#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_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_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_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
PERM1	84808	bcgsc.ca	37	1	915350	915350	+	Missense_Mutation	SNP	G	G	A			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.chr1:915350G>A	ENST00000341290.2	-	3	753	c.718C>T	c.(718-720)Cct>Tct	p.P240S	C1orf170_ENST00000433179.2_Missense_Mutation_p.P260S			Q5SV97	PERM1_HUMAN		354					regulation of transcription, DNA-templated (GO:0006355)|response to muscle activity (GO:0014850)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCCCTGTCAGGTTGCGGCTCA	0.587																																					.		.											.	C1orf170-68	0			.						.																																			SO:0001583	missense	84808	.			TGTCAGGTTGCGG																												ENST00000341290.2:c.718C>T	1.37:g.915350G>A	ENSP00000343864:p.Pro240Ser	559	3		279	12	.	0	0	0	0	0	Q6ZVZ7|Q9BRF2|S5G239	RNA	SNP	ENST00000341290.2	37		.	.	.	.	.	.	.	.	.	.	.	13.11	2.140246	0.37825	.	.	ENSG00000187642	ENST00000433179;ENST00000341290	T;T	0.60797	0.16;0.16	3.95	-1.98	0.07480	.	0.799473	0.10565	N	0.659857	T	0.36026	0.0952	.	.	.	0.09310	N	1	B	0.25563	0.129	B	0.20767	0.031	T	0.17806	-1.0357	9	0.44086	T	0.13	.	1.7714	0.03012	0.2623:0.1366:0.4612:0.1399	.	260	Q5SV97	CA170_HUMAN	S	260;240	ENSP00000414022:P260S;ENSP00000343864:P240S	ENSP00000343864:P240S	P	-	1	0	C1orf170	905213	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-0.716000	0.04991	-0.618000	0.05656	-1.475000	0.01000	CCT	.		0.587	C1orf170-001	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000097943.2		
TNFRSF25	8718	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	6525618	6525618	+	Silent	SNP	C	C	T			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_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000348333.3_Silent_p.A14A|TNFRSF25_ENST00000351959.5_Silent_p.A14A|TNFRSF25_ENST00000351748.3_Silent_p.A14A|TNFRSF25_ENST00000377782.3_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						.						18.0	20.0	19.0					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		138	0		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	
KLHL21	9903	broad.mit.edu;bcgsc.ca	37	1	6659127	6659127	+	Silent	SNP	G	G	A	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	0.0	5008	,	,		18521	0.0		0.001	False		,,,				2504	0.0				p.N469N		.											.	KLHL21-514	0			c.C1407T						.	G		0,4406		0,0,2203	31.0	32.0	32.0		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		225	0		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	
SRM	6723	hgsc.bcm.edu	37	1	11119899	11119899	+	Silent	SNP	T	T	C	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	1.0	1.0	1.0	5008	,	,		7294	1.0		1.0	False		,,,				2504	1.0				p.S34S		.											.	SRM-90	0			c.A102G						.						8.0	10.0	10.0					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		0	0		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	
PRAMEF18	391003	broad.mit.edu	37	1	13474795	13474798	+	Frame_Shift_Del	DEL	CTTA	CTTA	-			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	863	2		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	
MFAP2	4237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	17302155	17302155	+	Silent	SNP	G	G	A	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_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Silent_p.N118N|MFAP2_ENST00000375534.3_Silent_p.N118N			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	110.0	92.0	98.0		354,354,357,357	-3.6	1.0	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		183	0		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	
IGSF21	84966	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	18691904	18691904	+	Missense_Mutation	SNP	C	C	T	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	0.0	5008	,	,		17365	0.0		0.0	False		,,,				2504	0.0				p.T243M		.											.	IGSF21-156	0			c.C728T						.	C	MET/THR	6,4400	12.9+/-30.5	0,6,2197	81.0	89.0	86.0		728	5.0	1.0	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	274	1		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	
EMC1	23065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	19545802	19545802	+	Nonsense_Mutation	SNP	G	G	A			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|EMC1_ENST00000375208.3_Nonsense_Mutation_p.R971*|EMC1_ENST00000375199.3_Nonsense_Mutation_p.R992*|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	993						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GTTCTTTATCGCCAGGCCCGA	0.507																																					p.R993X		.											.	.	0			c.C2977T						.						71.0	67.0	68.0					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*	105	0		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	
EPHB2	2048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	23222940	23222940	+	Silent	SNP	G	G	A			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_ENST00000374627.1_Silent_p.T573T|EPHB2_ENST00000374632.3_Silent_p.T579T|EPHB2_ENST00000465676.1_3'UTR|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						.						133.0	117.0	122.0					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		143	0		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	
FUCA1	2517	hgsc.bcm.edu	37	1	24194748	24194748	+	Missense_Mutation	SNP	G	G	C	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	.						3.0	6.0	5.0					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	0	0		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	
MYOM3	127294	broad.mit.edu	37	1	24407850	24407853	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			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_ENST00000329601.7_Frame_Shift_Del_p.FE792fs|MYOM3_ENST00000475306.1_5'Flank|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Frame_Shift_Del_p.FE793fs	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	504	0		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	
SEPN1	57190	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	26139207	26139207	+	Silent	SNP	C	C	T			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|SEPN1_ENST00000354177.4_Silent_p.F403F|RP1-317E23.6_ENST00000527604.1_5'Flank	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			.						.						41.0	45.0	43.0					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		90	0		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	
CATSPER4	378807	broad.mit.edu	37	1	26527381	26527381	+	Missense_Mutation	SNP	C	C	T			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						.						56.0	58.0	57.0					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	210	1		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	
KDF1	126695	bcgsc.ca	37	1	27277925	27277925	+	Missense_Mutation	SNP	G	G	A			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						.						37.0	38.0	38.0					1																	27277925		2203	4300	6503	SO:0001583	missense	126695	exon2			CCCTCCGAGGTCT																												ENST00000320567.5:c.947C>T	1.37:g.27277925G>A	ENSP00000319179:p.Ser316Leu	265	0		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		
RBBP4	5928	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	33134949	33134949	+	Silent	SNP	A	A	G			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_ENST00000373485.1_Silent_p.S293S|RBBP4_ENST00000414241.3_Silent_p.S292S|RBBP4_ENST00000458695.2_Silent_p.S258S|RBBP4_ENST00000544435.1_Silent_p.S41S	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						.						74.0	73.0	73.0					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		143	2		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	
DLGAP3	58512	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	35365799	35365799	+	Missense_Mutation	SNP	C	C	T	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	0.0	5008	,	,		17563	0.001		0.0	False		,,,				2504	0.0				p.G395S		.											.	DLGAP3-71	0			c.G1183A						.						100.0	99.0	99.0					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	125	0		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	
KIAA0754	643314	broad.mit.edu	37	1	39879079	39879079	+	Frame_Shift_Del	DEL	A	A	-			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_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_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	2.0	2.0	2.0		,,	-3.9	0.0	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	16	0		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	
BMP8B	656	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	40230376	40230376	+	Missense_Mutation	SNP	G	G	A			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						.						60.0	65.0	63.0					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	1460	0		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	
FOXJ3	22887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	42657281	42657281	+	Missense_Mutation	SNP	G	G	C			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_ENST00000372573.1_Missense_Mutation_p.S348R|FOXJ3_ENST00000361346.1_Missense_Mutation_p.S348R|FOXJ3_ENST00000361776.1_Missense_Mutation_p.S314R|FOXJ3_ENST00000545068.1_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						.						388.0	313.0	338.0					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	246	0		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	
LRRC41	10489	broad.mit.edu;bcgsc.ca	37	1	46751559	46751559	+	Missense_Mutation	SNP	G	G	A	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	34.0	35.0	35.0		970	3.0	1.0	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	84	0		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	
C1orf87	127795	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	60456488	60456488	+	Nonsense_Mutation	SNP	G	G	A			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_ENST00000395552.1_Nonsense_Mutation_p.R134*|C1orf87_ENST00000450089.2_Nonsense_Mutation_p.R271*|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						.						214.0	222.0	219.0					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*	125	1		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	
C1orf87	127795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	60463390	60463390	+	Missense_Mutation	SNP	C	C	G			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_ENST00000395552.1_Missense_Mutation_p.Q91H|C1orf87_ENST00000450089.2_Missense_Mutation_p.Q228H|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						.						116.0	113.0	114.0					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	125	0		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	
FOXD3	27022	hgsc.bcm.edu;broad.mit.edu	37	1	63789205	63789207	+	In_Frame_Del	DEL	AGA	AGA	-			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_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000426393.1_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	301	0		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		
SGIP1	84251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	67155933	67155933	+	Missense_Mutation	SNP	C	C	T			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_ENST00000237247.6_Missense_Mutation_p.R533W|SGIP1_ENST00000371039.1_Missense_Mutation_p.R303W|SGIP1_ENST00000371035.3_Missense_Mutation_p.R292W|SGIP1_ENST00000371036.3_Missense_Mutation_p.R302W	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						.						159.0	153.0	155.0					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	85	0		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	
SGIP1	84251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	67195022	67195022	+	Silent	SNP	G	G	A	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	AL354978.1_ENST00000408728.2_RNA|SGIP1_ENST00000237247.6_Silent_p.P637P|SGIP1_ENST00000371039.1_Silent_p.P409P|SGIP1_ENST00000435165.2_Silent_p.P111P|SGIP1_ENST00000371035.3_Silent_p.P396P|SGIP1_ENST00000371036.3_Silent_p.P408P	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	0.0	5008	,	,		19006	0.002		0.0	False		,,,				2504	0.0				p.P606P		.											.	SGIP1-93	0			c.G1818A						.	G		3,4403	6.2+/-15.9	0,3,2200	120.0	116.0	117.0		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		180	0		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	
SEP15	9403	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	87369102	87369102	+	Silent	SNP	C	C	T			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_ENST00000401030.3_Silent_p.S35S|SEP15_ENST00000370554.1_Silent_p.S35S|SEP15_ENST00000469566.1_5'UTR	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			.						.						38.0	35.0	36.0					1																	87369102		1871	4103	5974	SO:0001819	synonymous_variant	0	.			TGCCTCCGATGAA																												ENST00000331835.5:c.105G>A	1.37:g.87369102C>T		97	0		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		
RP5-1052I5.2	0	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	87599339	87599339	+	Missense_Mutation	SNP	G	G	A			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.chr1:87599339G>A	ENST00000370548.2	+	7	882	c.809G>A	c.(808-810)tGt>tAt	p.C270Y	HS2ST1_ENST00000356813.4_Missense_Mutation_p.C270Y|RP5-1052I5.1_ENST00000484933.2_lincRNA																							GGACCTATATGTGGCAGCAAG	0.463																																					.		.											.	.	0			.						.						50.0	45.0	46.0					1																	87599339		876	1991	2867	SO:0001583	missense	0	.			CTATATGTGGCAG																												ENST00000370548.2:c.809G>A	1.37:g.87599339G>A	ENSP00000359579:p.Cys270Tyr	205	1		144	124	.	0	0	0	1	1		RNA	SNP	ENST00000370548.2	37		.	.	.	.	.	.	.	.	.	.	G	8.114	0.779516	0.16120	.	.	ENSG00000153936	ENST00000370548;ENST00000356813	.	.	.	3.75	-5.03	0.02973	.	.	.	.	.	T	0.07863	0.0197	.	.	.	0.09310	N	1	B	0.16802	0.019	B	0.16722	0.016	T	0.37798	-0.9690	7	0.15952	T	0.53	.	10.8551	0.46794	0.2715:0.0:0.7285:0.0	.	270	Q7LGA3-2	.	Y	270	.	ENSP00000349268:C270Y	C	+	2	0	HS2ST1	87371927	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.497000	0.02289	-1.107000	0.03004	0.460000	0.39030	TGT	.		0.463	RP5-1052I5.2-001	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000457517.1		
PLPPR5	163404	broad.mit.edu	37	1	99470095	99470097	+	In_Frame_Del	DEL	AGA	AGA	-			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_ENST00000534652.1_5'Flank|LPPR5_ENST00000370188.3_In_Frame_Del_p.F44del|RP5-896L10.1_ENST00000425113.1_RNA	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	290	0		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		
KCNC4	3749	bcgsc.ca	37	1	110766454	110766454	+	Missense_Mutation	SNP	G	G	A	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_ENST00000438661.2_Missense_Mutation_p.R516Q|KCNC4_ENST00000412512.2_Intron	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	61.0	67.0	65.0		1547,1547	4.9	1.0	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	200	0		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	
OLFML3	56944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	114524270	114524270	+	Missense_Mutation	SNP	G	G	A			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_ENST00000491700.1_3'UTR|OLFML3_ENST00000369551.1_Missense_Mutation_p.R347H|OLFML3_ENST00000393300.2_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						.						56.0	57.0	57.0					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	120	0		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	
TSPAN2	10100	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	115615562	115615562	+	Missense_Mutation	SNP	A	A	G	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						.						129.0	116.0	120.0					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	127	2		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	
ADAMTSL4	54507	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		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.chr1:150530506delG	ENST00000369038.2	+	12	2464	c.2263delG	c.(2263-2265)gggfs	p.G758fs	ADAMTSL4_ENST00000271643.4_Frame_Shift_Del_p.G758fs|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2. {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)			GCAGGAATTTGGGGGGGGTGG	0.692																																					p.G755fs		.											.	ADAMTSL4-92	0			c.2263delG						.						41.0	49.0	46.0					1																	150530506		2147	4195	6342	SO:0001589	frameshift_variant	54507	exon14			GAATTTGGGGGGG	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.2263delG	1.37:g.150530506delG	ENSP00000358034:p.Gly758fs	40	0		52	14	NM_019032	0	0	0	0	0	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Frame_Shift_Del	DEL	ENST00000369038.2	37	CCDS955.1																																																																																			.		0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	
THEM4	117145	hgsc.bcm.edu	37	1	151881885	151881885	+	Missense_Mutation	SNP	A	A	C	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						.						1.0	1.0	1.0					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	0	0		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	
RPTN	126638	bcgsc.ca	37	1	152128212	152128212	+	Missense_Mutation	SNP	C	C	G	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		0.0219	False		,,,				2504	0.0123				p.D455H		.											.	RPTN-68	0			c.G1363C						.	C	HIS/ASP	22,3114		0,22,1546	792.0	699.0	727.0		1363	2.5	0.0	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	273	0		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	
LCE2B	26239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	152659333	152659333	+	Missense_Mutation	SNP	A	A	G			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						.						105.0	106.0	105.0					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	86	0		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	
HCN3	57657	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	155257602	155257602	+	Missense_Mutation	SNP	G	G	A			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						.						53.0	58.0	56.0					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	456	1		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	
GON4L	54856	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	155823172	155823172	+	Frame_Shift_Del	DEL	T	T	-			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_ENST00000361040.5_Frame_Shift_Del_p.M134fs|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Frame_Shift_Del_p.M134fs|GON4L_ENST00000271883.5_Frame_Shift_Del_p.M134fs	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						.						131.0	133.0	132.0					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	131	0		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	
MEF2D	4209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	156437983	156437983	+	Silent	SNP	C	C	T			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_ENST00000340875.5_Silent_p.A451A|MEF2D_ENST00000368240.2_Silent_p.A445A|MEF2D_ENST00000464356.2_Silent_p.A444A	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						.						37.0	45.0	42.0					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		40	0		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	
NES	10763	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	156640677	156640677	+	Silent	SNP	C	C	T			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						.						18.0	22.0	20.0					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		48	0		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	
HDGF	3068	bcgsc.ca	37	1	156713558	156713558	+	Missense_Mutation	SNP	G	G	A	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_ENST00000368206.5_Missense_Mutation_p.P217L|MRPL24_ENST00000368211.4_5'Flank|HDGF_ENST00000368209.5_Missense_Mutation_p.P194L|HDGF_ENST00000416666.2_Missense_Mutation_p.P169L|HDGF_ENST00000465180.1_5'UTR|MRPL24_ENST00000361531.2_5'Flank|HDGF_ENST00000537739.1_Missense_Mutation_p.P201L	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	36.0	38.0	37.0		650,581,602	1.7	1.0	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	52	0		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	
CD5L	922	bcgsc.ca;mdanderson.org	37	1	157805632	157805632	+	Silent	SNP	C	C	T			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						.						105.0	106.0	106.0					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		57	2		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	
NHLH1	4807	hgsc.bcm.edu	37	1	160340658	160340658	+	Missense_Mutation	SNP	G	G	A			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						.						6.0	9.0	8.0					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	2	0		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	
UCK2	7371	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	165865482	165865482	+	Missense_Mutation	SNP	C	C	A			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_ENST00000462329.1_3'UTR|UCK2_ENST00000469256.2_5'UTR|UCK2_ENST00000372212.4_Intron|RP11-525G13.2_ENST00000455257.2_RNA|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						.						216.0	202.0	207.0					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	190	0		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	
ILDR2	387597	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	166891885	166891885	+	Missense_Mutation	SNP	G	G	A			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_ENST00000529071.1_Missense_Mutation_p.R367C|ILDR2_ENST00000526687.1_Missense_Mutation_p.R278C|ILDR2_ENST00000469934.2_Missense_Mutation_p.R386C|ILDR2_ENST00000525740.1_Missense_Mutation_p.R259C|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						.						170.0	181.0	177.0					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	114	0		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	
SELP	6403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	169559391	169559391	+	Missense_Mutation	SNP	G	G	A			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_ENST00000367793.2_Missense_Mutation_p.P768S|SELP_ENST00000367792.2_Missense_Mutation_p.P646S|SELP_ENST00000367786.2_Missense_Mutation_p.P768S|SELP_ENST00000367788.2_Missense_Mutation_p.P768S|SELP_ENST00000367794.2_Missense_Mutation_p.P768S|SELP_ENST00000458599.2_Missense_Mutation_p.P646S|SELP_ENST00000367791.2_Missense_Mutation_p.P644S	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						.						103.0	99.0	100.0					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	63	0		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	
RASAL2	9462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	178412191	178412191	+	Missense_Mutation	SNP	C	C	T	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_ENST00000448150.3_Missense_Mutation_p.R419C|RASAL2_ENST00000367649.3_Missense_Mutation_p.R437C	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						.						111.0	108.0	109.0					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	145	0		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	
CACNA1E	777	broad.mit.edu	37	1	181702849	181702849	+	Silent	SNP	C	C	T	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_ENST00000526775.1_Silent_p.P1056P|CACNA1E_ENST00000367567.4_Silent_p.P682P|CACNA1E_ENST00000367570.1_Silent_p.P1075P|CACNA1E_ENST00000360108.3_Silent_p.P1056P|CACNA1E_ENST00000357570.5_Silent_p.P1026P|CACNA1E_ENST00000358338.5_Silent_p.P1007P	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	0.0029	5008	,	,		18392	0.0		0.0	False		,,,				2504	0.0				p.P1075P		.											.	CACNA1E-95	0			c.C3225T						.						38.0	44.0	42.0					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		436	0		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	
LGR6	59352	broad.mit.edu	37	1	202287206	202287206	+	Frame_Shift_Del	DEL	T	T	-	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						.						87.0	75.0	79.0					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	104	0		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	
PPFIA4	8497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	203025515	203025515	+	Silent	SNP	C	C	A			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_ENST00000295706.4_Silent_p.R201R|PPFIA4_ENST00000599966.1_Silent_p.R201R|PPFIA4_ENST00000367240.2_Silent_p.R686R|PPFIA4_ENST00000272198.6_Silent_p.R201R|PPFIA4_ENST00000414050.2_Silent_p.R414R			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						.						48.0	53.0	52.0					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		262	1		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	
KCNK2	3776	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	215408439	215408439	+	Missense_Mutation	SNP	C	C	T	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_ENST00000391895.2_Missense_Mutation_p.T407M|KCNK2_ENST00000391894.2_Missense_Mutation_p.T396M	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	0.0008	0.0	5008	,	,		21139	0.0		0.0	False		,,,				2504	0.0				p.T411M		.											.	KCNK2-90	0			c.C1232T						.						144.0	141.0	142.0					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	87	1		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	
ACBD3	64746	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	226342403	226342403	+	Silent	SNP	G	G	A	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	0.0008	0.0	5008	,	,		16500	0.0		0.0	False		,,,				2504	0.0				p.S345S		.											.	ACBD3-226	0			c.C1035T						.						186.0	167.0	173.0					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		194	0		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	
PARP1	142	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	226555191	226555191	+	Missense_Mutation	SNP	G	G	A			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						.						203.0	177.0	185.0					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	157	0		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	
OBSCN	84033	hgsc.bcm.edu	37	1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	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_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	5.0	6.0	6.0		13546,13546	-1.0	0.0	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	0	0		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	
OBSCN	84033	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	228509610	228509610	+	Missense_Mutation	SNP	C	C	T	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_ENST00000366709.4_Missense_Mutation_p.P2142L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5023L|OBSCN_ENST00000570156.2_Missense_Mutation_p.P5980L	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	0.0	5008	,	,		17596	0.0149		0.0	False		,,,				2504	0.002				p.P5980L		.											.	OBSCN-403	0			c.C17939T						.	C	LEU/PRO,LEU/PRO	2,3842		0,2,1920	24.0	27.0	26.0		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	68	1		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	
HIST3H3	8290	broad.mit.edu;bcgsc.ca	37	1	228612628	228612628	+	Silent	SNP	C	C	T			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						.						64.0	58.0	60.0					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		322	1		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	
URB2	9816	broad.mit.edu;bcgsc.ca	37	1	229768022	229768022	+	Missense_Mutation	SNP	C	C	A			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						.						74.0	76.0	75.0					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	222	1		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	
ARV1	64801	hgsc.bcm.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	A	-			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.chr1:231131567delA	ENST00000310256.2	+	4	567	c.510delA	c.(508-510)gcafs	p.A170fs	ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383																																					p.A170fs		.											.	ARV1-154	0			c.510delA						.						81.0	79.0	80.0					1																	231131567		2203	4300	6503	SO:0001589	frameshift_variant	64801	exon4			GACGGCAAAAAAA	AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.510delA	1.37:g.231131567delA	ENSP00000312458:p.Ala170fs	71	1		32	23	NM_022786	0	0	0	0	0	A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Frame_Shift_Del	DEL	ENST00000310256.2	37	CCDS1589.1																																																																																			.		0.383	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786	
SLC35F3	148641	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	234367444	234367444	+	Missense_Mutation	SNP	G	G	A			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						.						141.0	132.0	135.0					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	338	0		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	
FMN2	56776	hgsc.bcm.edu;bcgsc.ca	37	1	240370291	240370295	+	Frame_Shift_Del	DEL	AGGTT	AGGTT	-			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	197	1		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	
NET1	10276	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	5498113	5498113	+	Missense_Mutation	SNP	C	C	T	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	87.0	87.0	87.0		1261,1099	4.9	1.0	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	69	0		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	
TAF3	83860	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	8007680	8007682	+	In_Frame_Del	DEL	AGA	AGA	-			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	121	0		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	
OTUD1	220213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	23729556	23729556	+	Silent	SNP	G	G	C			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.chr10:23729556G>C	ENST00000376495.3	+	1	1359	c.1170G>C	c.(1168-1170)gtG>gtC	p.V390V		NM_001145373.2	NP_001138845.1	Q5VV17	OTUD1_HUMAN	OTU deubiquitinase 1	390	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K63-linked deubiquitination (GO:0070536)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TGCTGAATGTGAATATCCATT	0.557																																					p.V390V		.											.	OTUD1-433	0			c.G1170C						.						57.0	49.0	51.0					10																	23729556		692	1591	2283	SO:0001819	synonymous_variant	220213	exon1			GAATGTGAATATC	AK096389	CCDS44366.1	10p12.31	2014-02-24	2014-02-24		ENSG00000165312	ENSG00000165312		"""OTU domain containing"""	27346	protein-coding gene	gene with protein product		612022	"""OTU domain containing 1"""	OTDC1		23827681	Standard	NM_001145373		Approved	DUBA7	uc001irr.2	Q5VV17	OTTHUMG00000017819	ENST00000376495.3:c.1170G>C	10.37:g.23729556G>C		108	0		114	51	NM_001145373	0	0	4	12	8		Silent	SNP	ENST00000376495.3	37	CCDS44366.1																																																																																			.		0.557	OTUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047215.1	XM_166659	
ARHGAP21	57584	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	24873649	24873649	+	Missense_Mutation	SNP	G	G	A			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						.						65.0	64.0	64.0					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	196	0		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	
KIAA1462	57608	hgsc.bcm.edu;bcgsc.ca	37	10	30316849	30316852	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			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	190	1		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	
ERCC6	2074	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	50691492	50691492	+	Missense_Mutation	SNP	A	A	C			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						.						168.0	141.0	150.0					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	149	1		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	
SGMS1	259230	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	52103641	52103641	+	Silent	SNP	G	G	A			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_ENST00000429490.1_Intron|SGMS1_ENST00000492601.2_5'Flank|SGMS1_ENST00000361543.2_Silent_p.N78N	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						.						112.0	98.0	103.0					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		80	1		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	
PCDH15	65217	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	55581863	55581863	+	Missense_Mutation	SNP	G	G	T			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_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1877T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.P729T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1806T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1852T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1872T|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1835T	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						.						249.0	235.0	240.0					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	76	2		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	
IPMK	253430	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	59956132	59956132	+	Missense_Mutation	SNP	G	G	A	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	144.0	146.0	145.0		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	56	0		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	
ANK3	288	broad.mit.edu	37	10	61828580	61828580	+	Frame_Shift_Del	DEL	T	T	-			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_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4020					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGACTGCATCTTTTTTTCTTC	0.458																																					p.K4020fs		.											.	ANK3-107	0			c.12059delA						.						118.0	115.0	116.0					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	122	0		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	
HNRNPH3	3189	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	70105818	70105820	+	IGR	DEL	TTT	TTT	-			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		56	0		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																																																																																			.		0.340	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1		
TET1	80312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	70426853	70426853	+	Missense_Mutation	SNP	C	C	T			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						.						112.0	100.0	104.0					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	109	0		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	
NPFFR1	64106	hgsc.bcm.edu	37	10	72014863	72014863	+	Silent	SNP	G	G	A	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	3.0	5.0	4.0		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		0	0		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	
CDH23	64072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	73551036	73551036	+	Missense_Mutation	SNP	G	G	A	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	0.0	5008	,	,		18534	0.0		0.0	False		,,,				2504	0.0665				p.R2066Q		.											.	CDH23-563	0			c.G6197A						.	G	GLN/ARG	0,4364		0,0,2182	62.0	69.0	67.0		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	169	0		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	
CDH23	64072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	73560424	73560424	+	Missense_Mutation	SNP	G	G	A	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	62.0	65.0	64.0		674,674,7394	5.4	1.0	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	172	0		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	
SYNPO2L	79933	broad.mit.edu;bcgsc.ca	37	10	75414029	75414029	+	Missense_Mutation	SNP	G	G	A			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						.						82.0	71.0	74.0					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	136	3		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	
DLG5	9231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	79603319	79603319	+	Missense_Mutation	SNP	C	C	T			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						.						152.0	144.0	147.0					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	277	1		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		
GRID1	2894	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	87675969	87675969	+	Missense_Mutation	SNP	C	C	T			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						.						77.0	73.0	74.0					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	55	1		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	
GRID1	2894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	87898579	87898579	+	Silent	SNP	G	G	A			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						.						83.0	77.0	79.0					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		130	0		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	
TNKS2	80351	hgsc.bcm.edu	37	10	93601946	93601946	+	Frame_Shift_Del	DEL	A	A	-			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.chr10:93601946delA	ENST00000371627.4	+	16	2236	c.1857delA	c.(1855-1857)acafs	p.T619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CAGACCCTACAAAAAAAAACA	0.393																																					p.T619fs		.											.	TNKS2-541	1	Deletion - Frameshift(1)	large_intestine(1)	c.1857delA						.						66.0	69.0	68.0					10																	93601946		2203	4300	6503	SO:0001589	frameshift_variant	80351	exon16			CCCTACAAAAAAA	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1857delA	10.37:g.93601946delA	ENSP00000360689:p.Thr619fs	76	0		105	53	NM_025235	0	0	0	0	0	B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Del	DEL	ENST00000371627.4	37	CCDS7417.1																																																																																			.		0.393	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
HELLS	3070	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	96353307	96353307	+	Nonsense_Mutation	SNP	C	C	T			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*	RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Nonsense_Mutation_p.R577*|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Nonsense_Mutation_p.R721*	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						.						133.0	124.0	127.0					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*	134	1		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	
MORN4	118812	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	99376052	99376052	+	Missense_Mutation	SNP	C	C	T	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_ENST00000370649.3_Intron|MORN4_ENST00000478953.1_3'UTR|MORN4_ENST00000335628.3_Missense_Mutation_p.A195T|PI4K2A_ENST00000555577.1_Intron	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	0.0	5008	,	,		19909	0.0		0.0	False		,,,				2504	0.0				p.A137T		.											.	MORN4-90	0			c.G409A						.						61.0	58.0	59.0					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	91	1		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	
PI4K2A	55361	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	99426276	99426276	+	Missense_Mutation	SNP	C	C	G			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_ENST00000370649.3_Missense_Mutation_p.S359W|PI4K2A_ENST00000555577.1_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						.						71.0	69.0	69.0					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	56	0		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	
CNNM1	26507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	101124242	101124242	+	Silent	SNP	C	C	T	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_ENST00000446890.1_Silent_p.G628G|CNNM1_ENST00000370528.3_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	0.0	5008	,	,		19092	0.0		0.001	False		,,,				2504	0.0				p.G699G		.											.	CNNM1-68	0			c.C2097T						.	C		1,4405	2.1+/-5.4	0,1,2202	104.0	84.0	91.0		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		61	0		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	
FBXW4	6468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	103371420	103371420	+	Missense_Mutation	SNP	G	G	A	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	109.0	94.0	99.0		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	204	0		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	
C10orf76	79591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	103716388	103716388	+	Silent	SNP	G	G	A			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						.						117.0	118.0	118.0					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		150	0		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	
NFKB2	4791	hgsc.bcm.edu	37	10	104159196	104159196	+	Silent	SNP	A	A	G	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_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		0.999	False		,,,				2504	1.0				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	3.0	5.0	4.0		1269,1269,1269	-4.9	0.0	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		0	0		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		
PDCD11	22984	ucsc.edu;bcgsc.ca;mdanderson.org	37	10	105177645	105177645	+	Missense_Mutation	SNP	G	G	A	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						.						154.0	138.0	143.0					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	223	2		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		
COL17A1	1308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	105803593	105803593	+	Silent	SNP	G	G	A			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						.						131.0	122.0	125.0					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		189	0		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	
RBM20	282996	broad.mit.edu	37	10	112541584	112541584	+	Frame_Shift_Del	DEL	C	C	-			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.chr10:112541584delC	ENST00000369519.3	+	2	1275	c.1217delC	c.(1216-1218)gccfs	p.A406fs		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	406					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						CACGGTGTGGCCCCCCTCCAC	0.572																																					p.A406fs		.											.	.	0			c.1217delC						.						90.0	82.0	85.0					10																	112541584		692	1591	2283	SO:0001589	frameshift_variant	282996	exon2			GTGTGGCCCCCCT	BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.1217delC	10.37:g.112541584delC	ENSP00000358532:p.Ala406fs	209	0		269	10	NM_001134363	0	0	0	0	0	A6NIP5|B5A868|Q5JVI1	Frame_Shift_Del	DEL	ENST00000369519.3	37	CCDS44477.1																																																																																			.		0.572	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050339.2	NM_001134363	
ADRA2A	150	hgsc.bcm.edu;broad.mit.edu	37	10	112838325	112838327	+	In_Frame_Del	DEL	GGC	GGC	-			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	19	0		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	
VWA2	340706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	116049187	116049187	+	Silent	SNP	C	C	T			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						.						138.0	108.0	118.0					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		240	0		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	
SEC23IP	11196	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	121691801	121691803	+	In_Frame_Del	DEL	AAG	AAG	-			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_ENST00000543134.1_In_Frame_Del_p.E703del|SEC23IP_ENST00000475542.1_3'UTR	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	83	0		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		
C10orf85	404216	bcgsc.ca;mdanderson.org	37	10	122358921	122358921	+	3'UTR	SNP	G	G	A			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.chr10:122358921G>A	ENST00000369071.2	+	0	1201									chromosome 10 open reading frame 85																		cttactgagtgctcactctgt	0.557																																					.		.											.	.	0			.						.																																			SO:0001624	3_prime_UTR_variant	100847064	.			CTGAGTGCTCACT	AK094721		10q26.12	2013-09-20			ENSG00000177234	ENSG00000177234			31365	protein-coding gene	gene with protein product							Standard	NR_103717		Approved	FLJ37402, Em:AC023282.2		Q8N1V8	OTTHUMG00000019167	ENST00000369071.2:c.*712G>A	10.37:g.122358921G>A		105	0		140	57	.	0	0	0	0	0		RNA	SNP	ENST00000369071.2	37																																																																																				.		0.557	C10orf85-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050700.1		
FANK1	92565	hgsc.bcm.edu	37	10	127585221	127585221	+	Nonsense_Mutation	SNP	C	C	T	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_ENST00000449042.2_5'UTR|FANK1_ENST00000368695.1_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						.						8.0	12.0	11.0					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*	20	0		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	
KNDC1	85442	hgsc.bcm.edu	37	10	135000124	135000124	+	Silent	SNP	C	C	T	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_ENST00000368572.2_Silent_p.D424D|KNDC1_ENST00000368571.2_Silent_p.D359D			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	0.0008	0.0	5008	,	,		13936	0.0		0.0	False		,,,				2504	0.0				p.D424D		.											.	KNDC1-229	0			c.C1272T						.			0,4400		0,0,2200	31.0	38.0	36.0		1272	-8.0	0.0	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		1	0		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	
KNDC1	85442	hgsc.bcm.edu	37	10	135000148	135000148	+	Silent	SNP	T	T	C	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_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	26.0	32.0	30.0		1296	-4.2	0.0	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		2	0		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	
KNDC1	85442	hgsc.bcm.edu	37	10	135000159	135000159	+	Missense_Mutation	SNP	A	A	G	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_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	23.0	28.0	26.0		1307	-5.9	0.0	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	2	0		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	
PIDD1	55367	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	800997	800997	+	Missense_Mutation	SNP	G	G	A			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						.						36.0	29.0	31.0					11																	800997		2179	4290	6469	SO:0001583	missense	55367	exon10			AAGTGTGTGACCT																												ENST00000347755.5:c.1754C>T	11.37:g.800997G>A	ENSP00000337797:p.Thr585Ile	158	0		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		
MUC5B	727897	bcgsc.ca	37	11	1271633	1271633	+	Missense_Mutation	SNP	C	C	A			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	MUC5B_ENST00000447027.1_Missense_Mutation_p.P4511Q|RP11-532E4.2_ENST00000532061.2_RNA	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						.						155.0	199.0	184.0					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	1117	7		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	
KRTAP5-5	439915	broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	1651190	1651190	+	Silent	SNP	C	C	T			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						.						17.0	27.0	24.0					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		36	2		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		
TH	7054	ucsc.edu;bcgsc.ca	37	11	2190951	2190951	+	Missense_Mutation	SNP	C	C	T	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	58.0	60.0	60.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	241,334,322	-1.8	0.0	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	317	3		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	
OR56A3	390083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	5969261	5969261	+	Missense_Mutation	SNP	G	G	T	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						.						200.0	195.0	197.0					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	96	0		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	
FAM160A2	84067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	6232915	6232915	+	Missense_Mutation	SNP	G	G	A	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	0.0014	5008	,	,		16333	0.0		0.0	False		,,,				2504	0.0				p.R928C		.											.	FAM160A2-92	0			c.C2782T						.	G	CYS/ARG,CYS/ARG	0,4402		0,0,2201	58.0	65.0	63.0		2740,2782	5.2	1.0	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	78	0		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	
ST5	6764	broad.mit.edu	37	11	8724250	8724250	+	Silent	SNP	C	C	T			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	ST5_ENST00000357665.1_Silent_p.R863R|ST5_ENST00000526757.1_Silent_p.R443R|ST5_ENST00000530438.1_Silent_p.R443R|ST5_ENST00000534278.1_Silent_p.R54R|ST5_ENST00000313726.6_Silent_p.R863R|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Silent_p.R335R|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						.						67.0	62.0	64.0					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		137	0		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	
TEAD1	7003	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	12923632	12923632	+	Frame_Shift_Del	DEL	A	A	-			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_ENST00000527636.1_Frame_Shift_Del_p.Q282fs|TEAD1_ENST00000334310.6_Intron|SCARNA16_ENST00000516520.1_RNA|TEAD1_ENST00000361905.4_Frame_Shift_Del_p.Q267fs|TEAD1_ENST00000361985.2_Frame_Shift_Del_p.Q282fs|TEAD1_ENST00000527575.1_Intron			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						.						190.0	182.0	184.0					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	183	0		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	
NAV2	89797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	19955447	19955447	+	Missense_Mutation	SNP	A	A	G			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_ENST00000540292.1_Missense_Mutation_p.K507E|NAV2_ENST00000360655.4_Missense_Mutation_p.K489E|NAV2_ENST00000527559.2_Missense_Mutation_p.K505E|NAV2_ENST00000349880.4_Missense_Mutation_p.K553E|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						.						73.0	79.0	77.0					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	32	0		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	
QSER1	79832	hgsc.bcm.edu;bcgsc.ca	37	11	32979554	32979554	+	Frame_Shift_Del	DEL	A	A	-			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						.						86.0	80.0	82.0					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	102	1		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	
TNKS1BP1	85456	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	57077118	57077119	+	Frame_Shift_Del	DEL	CT	CT	-			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	65	0		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	
FADS2	9415	hgsc.bcm.edu	37	11	61607885	61607887	+	In_Frame_Del	DEL	TCC	TCC	-			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_ENST00000522056.1_In_Frame_Del_p.L106del|FADS2_ENST00000257261.6_In_Frame_Del_p.L115del	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	292	1		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	
SLC22A24	283238	ucsc.edu;bcgsc.ca;mdanderson.org	37	11	62850786	62850786	+	Missense_Mutation	SNP	C	C	T	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	151.0	122.0	130.0		1214	1.9	0.0	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	175	2		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	
LGALS12	85329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	63276041	63276041	+	Missense_Mutation	SNP	C	C	T	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	0.0	5008	,	,		20398	0.0		0.0	False		,,,				2504	0.0				p.T51M		.											.	LGALS12-92	0			c.C152T						.	C	MET/THR,MET/THR,,,MET/THR	2,4400	4.2+/-10.8	0,2,2199	99.0	89.0	92.0		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	139	0		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	
TM7SF2	7108	hgsc.bcm.edu	37	11	64880090	64880090	+	Silent	SNP	G	G	C	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	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		0.999	False		,,,				2504	1.0				p.P52P		.											.	TM7SF2-91	0			c.G156C						.	C		2924,8		1458,8,0	2.0	2.0	2.0		156	-9.8	0.0	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		0	0		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	
LTBP3	4054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	65319519	65319519	+	Silent	SNP	G	G	A	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	0.0	5008	,	,		17924	0.0		0.001	False		,,,				2504	0.0				p.D485D		.											.	LTBP3-91	0			c.C1455T						.						116.0	126.0	123.0					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		185	1	1083	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	
RHOD	29984	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	66838933	66838933	+	Missense_Mutation	SNP	G	G	A			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						.						32.0	30.0	31.0					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	40	0		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	
IGHMBP2	3508	broad.mit.edu	37	11	68682296	68682296	+	Silent	SNP	G	G	A			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						.						88.0	89.0	89.0					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		126	1		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	
KCTD21	283219	ucsc.edu;bcgsc.ca	37	11	77885257	77885257	+	Missense_Mutation	SNP	G	G	T			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_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000528468.1_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						.						139.0	108.0	119.0					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	141	2		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	
PICALM	8301	broad.mit.edu	37	11	85694914	85694914	+	Missense_Mutation	SNP	G	G	T			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_ENST00000528398.1_Missense_Mutation_p.S403Y|PICALM_ENST00000532317.1_Missense_Mutation_p.S454Y|PICALM_ENST00000526033.1_Missense_Mutation_p.S497Y|PICALM_ENST00000356360.5_Missense_Mutation_p.S504Y			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						.						27.0	27.0	27.0					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	91	0		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	
FAT3	120114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	92616519	92616519	+	Silent	SNP	C	C	T			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_ENST00000409404.2_Silent_p.C4299C|FAT3_ENST00000525166.1_Silent_p.C4149C|FAT3_ENST00000533797.1_Silent_p.C634C|FAT3_ENST00000489716.1_3'UTR			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						.						26.0	29.0	28.0					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		138	0		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	
ATM	472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	108138056	108138056	+	Silent	SNP	C	C	T			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						.						90.0	87.0	88.0					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		129	0		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	
DIXDC1	85458	broad.mit.edu;bcgsc.ca	37	11	111865744	111865744	+	Splice_Site	SNP	C	C	T			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			.						.						131.0	126.0	127.0					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		104	0		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
C11orf57	55216	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	111953573	111953576	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			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_ENST00000393047.3_Frame_Shift_Del_p.KK253fs|C11orf57_ENST00000420986.2_Frame_Shift_Del_p.KK252fs|TIMM8B_ENST00000507614.1_5'Flank|C11orf57_ENST00000532163.1_Frame_Shift_Del_p.KK224fs	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	31	0		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	
TIMM8B	26521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	111956053	111956053	+	Missense_Mutation	SNP	C	C	T			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_ENST00000528182.1_5'Flank|SDHD_ENST00000525291.1_5'Flank|SDHD_ENST00000375549.3_5'Flank|SDHD_ENST00000528048.1_5'Flank|TIMM8B_ENST00000541231.1_Missense_Mutation_p.R88Q|TIMM8B_ENST00000507614.1_5'UTR|SDHD_ENST00000526592.1_5'Flank|SDHD_ENST00000532699.1_5'Flank|SDHD_ENST00000528021.1_5'Flank	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						.						116.0	96.0	103.0					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	148	1		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	
DSCAML1	57453	broad.mit.edu;bcgsc.ca	37	11	117303148	117303148	+	Missense_Mutation	SNP	G	G	A			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						.						210.0	152.0	172.0					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	225	0		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	
CD3D	915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	118210583	118210583	+	Missense_Mutation	SNP	C	C	T			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_ENST00000529594.1_Missense_Mutation_p.A32T|CD3D_ENST00000392884.2_Intron	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						.						81.0	64.0	70.0					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	235	0		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	
TRIM29	23650	broad.mit.edu;bcgsc.ca	37	11	119983148	119983148	+	Missense_Mutation	SNP	C	C	T			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_ENST00000541857.1_Missense_Mutation_p.G314R|TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000524816.3_Missense_Mutation_p.G147R|TRIM29_ENST00000528870.1_Missense_Mutation_p.G114R|TRIM29_ENST00000529044.1_Missense_Mutation_p.G320R	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						.						182.0	141.0	155.0					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	497	1		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	
GRIK4	2900	broad.mit.edu	37	11	120852883	120852883	+	Missense_Mutation	SNP	A	A	G			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						.						235.0	237.0	236.0					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	102	0		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	
VWF	7450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	6230433	6230433	+	Missense_Mutation	SNP	C	C	T			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_ENST00000545906.1_5'Flank|VWF_ENST00000572068.1_Missense_Mutation_p.V80I	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						.						82.0	71.0	75.0					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	225	0		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	
PLEKHG6	55200	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	6424203	6424203	+	Silent	SNP	G	G	A			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_ENST00000449001.2_Silent_p.R77R|PLEKHG6_ENST00000011684.7_Silent_p.R109R	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						.						102.0	88.0	93.0					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		148	1		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	
GPR162	27239	bcgsc.ca	37	12	6933232	6933232	+	Silent	SNP	G	G	A	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_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_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	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.001				p.A56A		.											.	GPR162-92	0			c.G168A						.	G	,	0,4406		0,0,2203	69.0	56.0	60.0		,168	-1.6	1.0	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		121	2		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	
YBX3	8531	hgsc.bcm.edu	37	12	10875525	10875525	+	Silent	SNP	G	G	A	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						.						2.0	3.0	3.0					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		0	0		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	
KIAA1467	57613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	13229066	13229066	+	Missense_Mutation	SNP	C	C	T	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		0.0	False		,,,				2504	0.0				p.T544M		.											.	KIAA1467-92	0			c.C1631T						.	C	MET/THR	11,4395	17.9+/-39.9	0,11,2192	131.0	98.0	109.0		1631	4.7	1.0	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	174	0		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	
EPS8	2059	broad.mit.edu	37	12	15814975	15814975	+	Silent	SNP	G	G	A			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_ENST00000543612.1_Silent_p.R265R|EPS8_ENST00000540613.1_Silent_p.R5R|EPS8_ENST00000543523.1_Silent_p.R265R|EPS8_ENST00000542903.1_Silent_p.R5R	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						.						237.0	227.0	230.0					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		83	0		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		
TM7SF3	51768	bcgsc.ca	37	12	27152534	27152534	+	Missense_Mutation	SNP	A	A	G			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						.						157.0	137.0	144.0					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	157	1		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	
CCNT1	904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	49086936	49086936	+	Silent	SNP	A	A	G			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						.						128.0	119.0	122.0					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		149	0		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	
ADCY6	112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	49170332	49170332	+	Missense_Mutation	SNP	G	G	A			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						.						75.0	67.0	70.0					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	85	0		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	
FKBP11	51303	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	49318027	49318028	+	Frame_Shift_Del	DEL	CT	CT	-			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	FKBP11_ENST00000552878.1_Frame_Shift_Del_p.S99fs|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000444214.2_5'UTR|AC073610.5_ENST00000537495.1_Intron|FKBP11_ENST00000453172.2_Frame_Shift_Del_p.S99fs|RP11-302B13.5_ENST00000398092.4_Intron	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	121	0		158	69	NM_016594	0	0	0	0	0	B4DWB7	Frame_Shift_Del	DEL	ENST00000550765.1	37	CCDS8773.1																																																																																			.		0.530	FKBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408927.1	NM_016594	
ARF3	377	bcgsc.ca	37	12	49333524	49333524	+	Missense_Mutation	SNP	C	C	T			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_ENST00000541967.1_5'Flank|ARF3_ENST00000447318.2_Missense_Mutation_p.V63I|AC073610.5_ENST00000537495.1_5'Flank|ARF3_ENST00000541959.1_Missense_Mutation_p.V100I|RP11-302B13.5_ENST00000398092.4_Missense_Mutation_p.V100I	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						.						124.0	116.0	119.0					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	211	0		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	
C1QL4	338761	broad.mit.edu	37	12	49729769	49729769	+	Silent	SNP	G	G	A			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						.						37.0	40.0	39.0					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		123	0		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	
CSRNP2	81566	broad.mit.edu;bcgsc.ca	37	12	51457707	51457707	+	Missense_Mutation	SNP	A	A	G			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						.						100.0	109.0	106.0					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	96	0		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		
KRT71	112802	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	52946699	52946699	+	Missense_Mutation	SNP	G	G	A			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						.						57.0	67.0	63.0					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	70	1		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	
KRT76	51350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	53170942	53170942	+	Missense_Mutation	SNP	C	C	T			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						.						50.0	66.0	61.0					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	124	0		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	
SOAT2	8435	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	53497419	53497419	+	Missense_Mutation	SNP	C	C	T			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						.						12.0	14.0	14.0					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	40	0		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		
MAP3K12	7786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	53876621	53876621	+	Missense_Mutation	SNP	G	G	A			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						.						24.0	30.0	28.0					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	26	0		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	
ATF7	11016	bcgsc.ca	37	12	53946410	53946410	+	Silent	SNP	G	G	A	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_ENST00000328463.7_Silent_p.N20N|ATF7_ENST00000548118.2_Silent_p.N20N|ATF7_ENST00000456903.4_Silent_p.N20N|ATF7_ENST00000420353.2_Silent_p.N20N|RP11-793H13.10_ENST00000591834.1_Silent_p.N20N|ATF7_ENST00000415113.1_Silent_p.N20N|ATF7_ENST00000591397.1_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	109.0	103.0	105.0		60,60,60,60,60	0.4	1.0	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		80	2		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	
SMARCC2	6601	hgsc.bcm.edu;bcgsc.ca	37	12	56559113	56559113	+	Frame_Shift_Del	DEL	G	G	-			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.chr12:56559113delG	ENST00000267064.4	-	26	3214	c.3128delC	c.(3127-3129)cctfs	p.P1043fs	SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000394023.3_Frame_Shift_Del_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATGGGGTCCAGGGGGGGGAAC	0.577																																					p.P1074fs		.											.	SMARCC2-229	0			c.3221delC						.		,,	47,38,3933		0,0,47,2,34,1926	35.0	41.0	39.0		,,	4.5	1.0	12		38	49,80,7671		2,0,45,9,62,3782	no	codingComplex,codingComplex,codingComplex	SMARCC2	NM_139067.2,NM_003075.3,NM_001130420.1	,,	2,0,92,11,96,5708	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6538,2.1155,1.8108	,,	,,	56559113	96,118,11604	2116	4167	6283	SO:0001589	frameshift_variant	6601	exon27			GGTCCAGGGGGGG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3128delC	12.37:g.56559113delG	ENSP00000267064:p.Pro1043fs	41	0		36	16	NM_139067	0	0	0	0	0	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Del	DEL	ENST00000267064.4	37	CCDS8907.1																																																																																			.		0.577	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1		
NACA	4666	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	57113563	57113564	+	Frame_Shift_Del	DEL	AG	AG	-			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_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Frame_Shift_Del_p.L584fs|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_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	82	0		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	
TAC3	6866	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	57409529	57409530	+	Frame_Shift_Del	DEL	CT	CT	-			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	88	0		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	
KIF5A	3798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	57963112	57963112	+	Missense_Mutation	SNP	C	C	T			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						.						72.0	70.0	71.0					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	120	0		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	
SLC16A7	9194	broad.mit.edu	37	12	60173233	60173233	+	Missense_Mutation	SNP	A	A	G			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_ENST00000543448.1_Missense_Mutation_p.K305E|SLC16A7_ENST00000547379.1_Missense_Mutation_p.K404E|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						.						64.0	63.0	63.0					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	36	0		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	
BEST3	144453	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	70049362	70049362	+	Frame_Shift_Del	DEL	G	G	-			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						.						76.0	78.0	78.0					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	46	0		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	
NAV3	89795	broad.mit.edu	37	12	78400316	78400316	+	Missense_Mutation	SNP	G	G	A	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_ENST00000536525.2_Missense_Mutation_p.R333H|NAV3_ENST00000228327.6_Missense_Mutation_p.R333H|NAV3_ENST00000266692.7_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						.						58.0	61.0	60.0					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	174	1		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	
CEP290	80184	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	88508192	88508210	+	Splice_Site	DEL	CTTACATTAACTAGTCTTT	CTTACATTAACTAGTCTTT	-			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_ENST00000309041.7_Splice_Site_p.ERLVN682fs|CEP290_ENST00000397838.3_5'UTR	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		40	0		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
GNPTAB	79158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	102158675	102158675	+	Missense_Mutation	SNP	G	G	A			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						.						69.0	70.0	70.0					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	23	0		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		
IFT81	28981	bcgsc.ca	37	12	110630488	110630488	+	Nonsense_Mutation	SNP	C	C	T	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	79.0	77.0	77.0		1534,1534	3.9	1.0	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*	156	4		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	
ATP2A2	488	hgsc.bcm.edu;bcgsc.ca	37	12	110784062	110784064	+	In_Frame_Del	DEL	CTC	CTC	-			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_ENST00000395494.2_In_Frame_Del_p.S946del|ATP2A2_ENST00000308664.6_In_Frame_Del_p.S973del			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	200	0		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	
OAS3	4940	bcgsc.ca	37	12	113400607	113400607	+	Missense_Mutation	SNP	G	G	A	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	120.0	130.0	126.0		1984	-0.2	0.0	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	245	4		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		
MLEC	9761	hgsc.bcm.edu;bcgsc.ca	37	12	121132922	121132923	+	Frame_Shift_Del	DEL	TG	TG	-			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	119	1		61	49	NM_014730	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000228506.3	37	CCDS9206.1																																																																																			.		0.510	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730	
P2RX7	5027	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	121622497	121622497	+	Silent	SNP	C	C	A			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	RP11-340F14.5_ENST00000569999.1_RNA|P2RX7_ENST00000328963.5_Silent_p.S390S|P2RX7_ENST00000535250.1_Silent_p.S470S|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000541446.1_Silent_p.S271S	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						.						14.0	12.0	13.0					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		184	0		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	
KNTC1	9735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	123089580	123089580	+	Missense_Mutation	SNP	G	G	A	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_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR|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	0.0	5008	,	,		16438	0.001		0.0	False		,,,				2504	0.0				p.E1778K		.											.	KNTC1-543	0			c.G5332A						.						63.0	58.0	60.0					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	89	0		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		
ABCB9	23457	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	123466588	123466588	+	5'Flank	SNP	G	G	A	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				RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000439686.2_Missense_Mutation_p.R177H|ARL6IP4_ENST00000315580.5_Missense_Mutation_p.R308H|ARL6IP4_ENST00000453766.2_Missense_Mutation_p.R300H|ARL6IP4_ENST00000392435.2_Missense_Mutation_p.R289H|ARL6IP4_ENST00000454885.2_Missense_Mutation_p.R174H|ARL6IP4_ENST00000426960.2_Missense_Mutation_p.R166H|ARL6IP4_ENST00000412505.2_Missense_Mutation_p.R118H|ARL6IP4_ENST00000543566.1_Missense_Mutation_p.R289H|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	58.0	58.0	58.0		899,866,866,923	5.3	1.0	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	167	0		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	
RIMBP2	23504	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	130912861	130912861	+	Missense_Mutation	SNP	C	C	T			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						.						70.0	63.0	65.0					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	106	0		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	
EP400	57634	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	132504663	132504663	+	Silent	SNP	G	G	A	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_ENST00000389561.2_Silent_p.P1449P|EP400_ENST00000332482.4_Silent_p.P1412P|EP400_ENST00000389562.2_Silent_p.P1448P|EP400_ENST00000330386.6_Silent_p.P1449P			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	49.0	50.0	50.0		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		22	0		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	
ATP12A	479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	25262636	25262636	+	Silent	SNP	C	C	T	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	178.0	177.0	177.0		408,408	-5.7	0.0	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		62	0		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	
PABPC3	5042	ucsc.edu	37	13	25671755	25671755	+	Silent	SNP	G	G	A	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						.						96.0	87.0	90.0					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		154	3		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	
PABPC3	5042	ucsc.edu	37	13	25671786	25671786	+	Missense_Mutation	SNP	G	G	A	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						.						64.0	58.0	60.0					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	142	4		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	
AMER2	219287	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	25744555	25744555	+	Silent	SNP	G	G	A			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_ENST00000381853.3_Silent_p.P282P|AMER2_ENST00000357816.2_Silent_p.P282P|AMER2-AS1_ENST00000413501.1_lincRNA			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						.						31.0	36.0	34.0					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		118	1		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	
RASL11A	387496	broad.mit.edu;bcgsc.ca	37	13	27847563	27847563	+	Nonsense_Mutation	SNP	C	C	T			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						.						54.0	52.0	53.0					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*	245	0		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	
FREM2	341640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	39264775	39264775	+	Silent	SNP	G	G	T			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						.						89.0	83.0	85.0					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		40	0		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	
LHFP	10186	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	39952603	39952603	+	Missense_Mutation	SNP	C	C	T	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	79.0	72.0	74.0		446	4.1	1.0	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	80	0		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	
EBPL	84650	broad.mit.edu	37	13	50235138	50235138	+	Missense_Mutation	SNP	T	T	G			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_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378272.5_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						.						73.0	73.0	73.0					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	137	0		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	
PCDH8	5100	hgsc.bcm.edu	37	13	53420056	53420056	+	Missense_Mutation	SNP	G	G	A			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						.						2.0	3.0	3.0					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	0	0		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	
SCEL	8796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	78211275	78211275	+	Missense_Mutation	SNP	A	A	T			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						.						100.0	94.0	96.0					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	39	0		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	
ABCC4	10257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	95830011	95830011	+	Silent	SNP	G	G	A			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_ENST00000412704.1_Silent_p.D559D|ABCC4_ENST00000431522.1_Silent_p.D559D|ABCC4_ENST00000536256.1_Silent_p.D484D|ABCC4_ENST00000538287.1_3'UTR	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						.						144.0	123.0	131.0					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		172	0		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	
PCCA	5095	broad.mit.edu;bcgsc.ca	37	13	100925452	100925452	+	Frame_Shift_Del	DEL	T	T	-			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.chr13:100925452delT	ENST00000376285.1	+	12	955	c.917delT	c.(916-918)attfs	p.I306fs	PCCA_ENST00000376279.3_Frame_Shift_Del_p.I306fs|PCCA_ENST00000376286.4_Frame_Shift_Del_p.I280fs	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	306	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ATATGTAGCATTTTTTTGGAT	0.378																																					p.I306fs		.											.	PCCA-227	0			c.917delT						.						64.0	66.0	65.0					13																	100925452		2203	4300	6503	SO:0001589	frameshift_variant	5095	exon12			GTAGCATTTTTTT	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.917delT	13.37:g.100925452delT	ENSP00000365462:p.Ile306fs	66	0		56	9	NM_001178004	0	0	0	0	0	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Frame_Shift_Del	DEL	ENST00000376285.1	37	CCDS9496.2																																																																																			.		0.378	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		
COL4A1	1282	hgsc.bcm.edu;broad.mit.edu	37	13	110804812	110804812	+	Silent	SNP	C	C	T	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	45.0	39.0	41.0		4797	-11.0	0.0	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		142	0		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		
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			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.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																					p.L91L		.											.	UPF3A-91	8	Substitution - coding silent(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	c.C271T						.						4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110	exon2			CGCCCGCTGCCAG	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T		30	0		51	5	NM_080687	0	0	13	13	0	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	CCDS9543.1																																																																																			.		0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2		
OR4Q3	441669	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	20216029	20216029	+	Missense_Mutation	SNP	C	C	T			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						.						92.0	95.0	94.0					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	508	0		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		
OR4K2	390431	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	20345046	20345046	+	Missense_Mutation	SNP	C	C	T	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	312.0	312.0	312.0		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	254	0		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		
CMA1	1215	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	24976583	24976583	+	Missense_Mutation	SNP	G	G	A	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	0.0	5008	,	,		19023	0.001		0.0	False		,,,				2504	0.0041				p.T63M		.											.	CMA1-90	0			c.C188T						.	G	MET/THR	0,4406		0,0,2203	132.0	126.0	128.0		188	5.0	1.0	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	109	1		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		
MIS18BP1	55320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	45675328	45675328	+	Missense_Mutation	SNP	T	T	A			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						.						64.0	63.0	63.0					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	242	1		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		
DNAAF2	55172	hgsc.bcm.edu	37	14	50100683	50100683	+	Silent	SNP	C	C	G	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						.						1.0	1.0	1.0					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		0	0		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		
ELMSAN1	91748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	74193665	74193665	+	Missense_Mutation	SNP	C	C	T			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						.						48.0	43.0	45.0					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	283	0		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	
VSX2	338917	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	74711911	74711911	+	Missense_Mutation	SNP	T	T	G			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						.						76.0	64.0	68.0					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	142	0		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	
TDP1	55775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	90450919	90450919	+	Missense_Mutation	SNP	C	C	T			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_ENST00000357382.3_Missense_Mutation_p.S76L|TDP1_ENST00000555880.1_Missense_Mutation_p.S315L	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						.						168.0	161.0	163.0					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	52	0		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	
DYNC1H1	1778	bcgsc.ca	37	14	102508056	102508056	+	Missense_Mutation	SNP	C	C	A	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	59.0	61.0	60.0		12087	4.6	1.0	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	143	1		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	
TDRD9	122402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	104481118	104481118	+	Silent	SNP	T	T	C			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						.						152.0	151.0	151.0					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		57	0		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	
KIF26A	26153	hgsc.bcm.edu	37	14	104644099	104644099	+	Silent	SNP	T	T	C	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	3.0	4.0	4.0		4974	-0.8	1.0	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		0	0		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		
AHNAK2	113146	ucsc.edu;bcgsc.ca	37	14	105409902	105409902	+	Silent	SNP	C	C	T	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	223.0	217.0	219.0		11886	-4.2	0.0	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		355	3		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	
OR4M2	390538	bcgsc.ca	37	15	22369046	22369046	+	Silent	SNP	C	C	T			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						.						364.0	303.0	324.0					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		1141	2		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		
MAGEL2	54551	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	23890894	23890894	+	Frame_Shift_Del	DEL	G	G	-			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.chr15:23890894delG	ENST00000532292.1	-	1	281	c.187delC	c.(187-189)cagfs	p.Q64fs		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)		TGGGCCTGCTGGGGGGGTAGC	0.701																																					p.Q666fs		.											.	.	0			c.1996delC						.			11,3519		2,7,1756						3.7	1.0			7	24,7612		2,20,3796	no	frameshift	MAGEL2	NM_019066.4		4,27,5552	A1A1,A1R,RR		0.3143,0.3116,0.3135				35,11131				SO:0001589	frameshift_variant	54551	exon1			CCTGCTGGGGGGG	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.187delC	15.37:g.23890894delG	ENSP00000433433:p.Gln64fs	5	0		31	29	NM_019066	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000532292.1	37																																																																																				.		0.701	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066	
MTMR10	54893	broad.mit.edu	37	15	31269078	31269078	+	Silent	SNP	G	G	A			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_ENST00000314404.8_5'Flank|MTMR10_ENST00000425768.1_Silent_p.L68L|MTMR10_ENST00000563714.1_5'UTR	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						.						121.0	122.0	121.0					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		129	0		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	
FMN1	342184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	33358991	33358991	+	Intron	SNP	C	C	T			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_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Silent_p.S365S|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)		CTCTCCTGGGCGACTCAGGGT	0.582																																					p.S365S		.											.	FMN1-23	0			c.G1095A						.						78.0	80.0	79.0					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		124	0		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	
PLA2G4B	100137049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	42137956	42137956	+	Missense_Mutation	SNP	G	G	A	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	JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R724H|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R724H|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R724H|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R493H			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	0.0	5008	,	,		17007	0.0		0.001	False		,,,				2504	0.0				p.R724H		.											.	JMJD7-PLA2G4B-135	0			c.G2171A						.	G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	51.0	52.0	52.0		1478,2171,2171	5.1	1.0	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	65	0		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	
SCG3	29106	broad.mit.edu	37	15	52011690	52011690	+	Silent	SNP	C	C	T			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						.						59.0	58.0	58.0					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		75	0		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	
LACTB	114294	hgsc.bcm.edu	37	15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	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	4.0	4.0	4.0		13,13	3.1	1.0	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	0	0		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	
DENND4A	10260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	65995235	65995235	+	Silent	SNP	C	C	T			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						.						209.0	196.0	200.0					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		67	0		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	
CLK3	1198	bcgsc.ca	37	15	74921337	74921337	+	Silent	SNP	C	C	T	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	0.0008	0.0	5008	,	,		19490	0.0		0.0	False		,,,				2504	0.0				p.D568D	Ovarian(133;694 1754 28950 29027 31859)	.											.	CLK3-358	0			c.C1704T						.						74.0	76.0	75.0					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		127	1		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		
FBXO22	26263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	76225297	76225297	+	Missense_Mutation	SNP	G	G	A			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						.						194.0	193.0	194.0					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	98	0		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	
C15orf40	123207	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	83679055	83679055	+	Missense_Mutation	SNP	C	C	T			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						.						225.0	198.0	207.0					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	262	0		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	
ALPK3	57538	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	85360157	85360157	+	Missense_Mutation	SNP	C	C	T			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						.						72.0	63.0	66.0					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	212	0		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	
POLG	5428	broad.mit.edu	37	15	89876828	89876830	+	In_Frame_Del	DEL	TGC	TGC	-	rs527965158|rs587781117|rs573261648|rs369920352	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.chr15:89876828_89876830delTGC	ENST00000268124.5	-	2	489_491	c.156_158delGCA	c.(154-159)cagcaa>caa	p.52_53QQ>Q	RP11-217B1.2_ENST00000569473.1_RNA|RP11-217B1.2_ENST00000562356.1_RNA|POLG_ENST00000525806.1_5'Flank|POLG_ENST00000442287.2_In_Frame_Del_p.52_53QQ>Q	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	52	Poly-Gln.				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)			aggctgctgttgctgctgctgct	0.69								DNA polymerases (catalytic subunits)																													p.52_53del	Colon(73;648 1203 11348 18386 27782)	.											.	POLG-228	0			c.156_158del						.																																			SO:0001651	inframe_deletion	5428	exon2			TGCTGTTGCTGCT	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.156_158delGCA	15.37:g.89876837_89876839delTGC	ENSP00000268124:p.Gln55del	8	0		20	13	NM_002693	0	0	0	0	0	Q8NFM2|Q92515	In_Frame_Del	DEL	ENST00000268124.5	37	CCDS10350.1																																																																																			.		0.690	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693	
HDDC3	374659	bcgsc.ca	37	15	91475059	91475060	+	Frame_Shift_Del	DEL	AG	AG	-	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	HDDC3_ENST00000330334.3_Frame_Shift_Del_p.L95fs|AC068831.3_ENST00000448987.1_RNA|HDDC3_ENST00000559898.1_Frame_Shift_Del_p.L95fs|UNC45A_ENST00000394275.2_Intron|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	1.0			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	60	0	1282	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	
ARRDC4	91947	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	98513945	98513945	+	Missense_Mutation	SNP	G	G	A	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	0.0	5008	,	,		17799	0.0		0.0	False		,,,				2504	0.0061				p.R391Q		.											.	ARRDC4-90	0			c.G1172A						.						104.0	89.0	94.0					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	91	0		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	
ADAMTS17	170691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	100594247	100594247	+	Missense_Mutation	SNP	G	G	A	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	0.0	5008	,	,		17330	0.0		0.003	False		,,,				2504	0.0				p.S717L		.											.	ADAMTS17-228	1	Substitution - Missense(1)	large_intestine(1)	c.C2150T						.	G	LEU/SER	0,4406		0,0,2203	106.0	111.0	109.0		2150	5.0	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	65	0		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	
OR4F15	390649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	102358851	102358851	+	Silent	SNP	C	C	T			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						.						237.0	220.0	226.0					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		247	0		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	
ITFG3	83986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	314146	314146	+	Silent	SNP	C	C	T			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_ENST00000301678.3_Silent_p.H440H|ITFG3_ENST00000600536.1_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						.						13.0	18.0	16.0					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		36	0		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	
JMJD8	339123	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	732820	732820	+	Missense_Mutation	SNP	C	C	T	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_ENST00000454700.1_Missense_Mutation_p.V297I|JMJD8_ENST00000562111.1_Missense_Mutation_p.V212I|JMJD8_ENST00000412368.2_Missense_Mutation_p.V278I|JMJD8_ENST00000562824.1_Missense_Mutation_p.V227I|JMJD8_ENST00000609261.1_Missense_Mutation_p.V257I			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	0.0029	5008	,	,		19417	0.003		0.0	False		,,,				2504	0.0				p.V278I		.											.	JMJD8-67	0			c.G832A						.						45.0	52.0	49.0					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	238	2		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	
UBE2I	7329	bcgsc.ca	37	16	1364365	1364365	+	Silent	SNP	A	A	G	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_ENST00000397514.3_Silent_p.P46P|UBE2I_ENST00000402301.1_Silent_p.P46P|UBE2I_ENST00000397515.2_Silent_p.P46P|UBE2I_ENST00000325437.5_Silent_p.P46P|UBE2I_ENST00000403747.2_Silent_p.P46P|UBE2I_ENST00000406620.1_Silent_p.P46P|UBE2I_ENST00000566587.1_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	67.0	65.0	66.0		138,138,138,138	-4.0	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		175	1		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	
RNF151	146310	hgsc.bcm.edu	37	16	2018635	2018635	+	Silent	SNP	C	C	A			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_ENST00000569210.2_3'UTR|RNF151_ENST00000321392.3_Silent_p.T148T	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						.						4.0	5.0	5.0					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		4	0		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	
PRSS41	360226	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	2854956	2854956	+	RNA	SNP	G	G	C			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.chr16:2854956G>C	ENST00000399677.1	+	0	780							Q7RTY9	PRS41_HUMAN	protease, serine, 41							anchored component of membrane (GO:0031225)|intracellular organelle (GO:0043229)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)										AGGATGGACTGTGGTATCAGG	0.597																																					p.L260L		.											.	.	0			c.G780C						.						210.0	175.0	186.0					16																	2854956		692	1591	2283			360226	exon5			TGGACTGTGGTAT			16p13.3	2014-04-01			ENSG00000215148	ENSG00000215148		"""Serine peptidases / Serine peptidases"""	30715	other	unknown	"""testis serine protease 1"""					12838346	Standard	NM_001135086		Approved	TESSP1	uc010uwi.2	Q7RTY9	OTTHUMG00000128932		16.37:g.2854956G>C		445	0		229	174	NM_001135086	0	0	0	0	0		Silent	SNP	ENST00000399677.1	37																																																																																				.		0.597	PRSS41-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000436450.1	NM_183379	
PKMYT1	9088	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	3024609	3024609	+	Silent	SNP	G	G	A	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_ENST00000574730.1_Silent_p.H238H|PKMYT1_ENST00000440027.2_Silent_p.H307H|PKMYT1_ENST00000431515.2_Silent_p.H307H|PKMYT1_ENST00000573944.1_Silent_p.H298H|PKMYT1_ENST00000574385.1_Silent_p.H298H	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	16.0	14.0	14.0		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		277	1		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	
ZNF263	10127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	3340332	3340332	+	Missense_Mutation	SNP	G	G	T			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						.						71.0	69.0	70.0					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	95	0		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		
TVP23A	780776	hgsc.bcm.edu	37	16	10867203	10867203	+	Frame_Shift_Del	DEL	A	A	-			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.chr16:10867203delA	ENST00000299866.8	-	5	711	c.420delT	c.(418-420)tttfs	p.F140fs	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	140						integral component of membrane (GO:0016021)											ATAAGGTGCTAAAAAAAAACA	0.443																																					p.F140fs		.											.	.	0			c.420delT						.						74.0	75.0	74.0					16																	10867203		1880	4107	5987	SO:0001589	frameshift_variant	780776	exon5			GGTGCTAAAAAAA		CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member A"""	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.420delT	16.37:g.10867203delA	ENSP00000299866:p.Phe140fs	114	1		68	50	NM_001079512	0	0	0	0	0	B2RUV4|B7ZW18	Frame_Shift_Del	DEL	ENST00000299866.8	37	CCDS45408.1																																																																																			.		0.443	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436680.1	NM_001079512	
ERCC4	2072	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	14041727	14041727	+	Silent	SNP	G	G	A			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						.						124.0	119.0	121.0					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		76	0		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	
RRN3	54700	broad.mit.edu	37	16	15168670	15168670	+	Missense_Mutation	SNP	G	G	T			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.chr16:15168670G>T	ENST00000198767.6	-	11	990	c.907C>A	c.(907-909)Ctc>Atc	p.L303I	PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000563559.1_Missense_Mutation_p.L303I|RRN3_ENST00000540462.1_Missense_Mutation_p.L121I|RRN3_ENST00000429751.2_Missense_Mutation_p.L273I|RRN3_ENST00000327307.7_Missense_Mutation_p.L270I	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	303					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						ATCTGGTCGAGCCGTTCAGGA	0.413																																					p.L303I		.											.	RRN3-91	0			c.C907A						.						113.0	84.0	94.0					16																	15168670		2197	4300	6497	SO:0001583	missense	54700	exon11			GGTCGAGCCGTTC	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.907C>A	16.37:g.15168670G>T	ENSP00000198767:p.Leu303Ile	87	1		59	6	NM_018427	0	0	8	8	0	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	7.146	0.582795	0.13749	.	.	ENSG00000085721	ENST00000198767;ENST00000429751;ENST00000327307;ENST00000540462	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.52	4.51	0.55191	.	0.660421	0.13888	N	0.355828	T	0.28433	0.0703	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14012	0.004;0.005;0.009	B;B;B	0.12156	0.003;0.007;0.007	T	0.06935	-1.0799	10	0.36615	T	0.2	.	10.7149	0.46006	0.0:0.0:0.628:0.372	.	273;204;303	F5H148;B4DZL9;Q9NYV6	.;.;RRN3_HUMAN	I	303;273;270;121	ENSP00000198767:L303I;ENSP00000402027:L273I;ENSP00000318484:L270I;ENSP00000437963:L121I	ENSP00000198767:L303I	L	-	1	0	RRN3	15076171	0.000000	0.05858	0.041000	0.18516	0.004000	0.04260	0.777000	0.26718	2.586000	0.87340	0.561000	0.74099	CTC	.		0.413	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427	
ABCC1	4363	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	16184382	16184382	+	Missense_Mutation	SNP	G	G	A	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_ENST00000346370.5_Missense_Mutation_p.A805T|ABCC1_ENST00000349029.5_Missense_Mutation_p.A746T|ABCC1_ENST00000399408.2_Missense_Mutation_p.A861T|ABCC1_ENST00000345148.5_Missense_Mutation_p.A861T|ABCC1_ENST00000351154.5_Missense_Mutation_p.A802T	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	0.0008	0.0	5008	,	,		17381	0.0		0.0	False		,,,				2504	0.0				p.A861T		.											.	ABCC1-94	0			c.G2581A						.						32.0	35.0	34.0					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	130	0		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	
COG7	91949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	23415033	23415033	+	Silent	SNP	C	C	T			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						.						91.0	82.0	85.0					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		191	0		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		
TAOK2	9344	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	29997670	29997670	+	Missense_Mutation	SNP	C	C	T			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_ENST00000279394.3_Missense_Mutation_p.R693W|TAOK2_ENST00000416441.2_Missense_Mutation_p.R520W|TAOK2_ENST00000543033.1_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						.						40.0	40.0	40.0					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	30	0		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	
PRR14	78994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	30664048	30664048	+	Missense_Mutation	SNP	G	G	A			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						.						100.0	90.0	93.0					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	242	0		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	
RNF40	9810	broad.mit.edu;bcgsc.ca	37	16	30780607	30780607	+	Missense_Mutation	SNP	A	A	G			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_ENST00000357890.5_Missense_Mutation_p.D683G|RNF40_ENST00000402121.3_Missense_Mutation_p.D475G|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						.						133.0	135.0	134.0					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	334	0		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	
ZNF646	9726	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	31091261	31091261	+	Missense_Mutation	SNP	G	G	A			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						.						33.0	38.0	36.0					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	218	1		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	
ARMC5	79798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	31473937	31473937	+	Missense_Mutation	SNP	C	C	T	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_ENST00000457010.2_Missense_Mutation_p.R357C|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Missense_Mutation_p.R452C|ARMC5_ENST00000268314.4_Missense_Mutation_p.R357C|ARMC5_ENST00000538189.1_Missense_Mutation_p.R389C			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	0.0	5008	,	,		17770	0.0		0.0	False		,,,				2504	0.001				p.R357C		.											.	ARMC5-24	0			c.C1069T						.		CYS/ARG,CYS/ARG	1,4015		0,1,2007	43.0	49.0	47.0		1069,1069	1.5	1.0	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	67	0		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	
PHKB	5257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	47697593	47697593	+	Missense_Mutation	SNP	G	G	A	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_ENST00000455779.1_Missense_Mutation_p.V755I|PHKB_ENST00000299167.8_Missense_Mutation_p.V762I|PHKB_ENST00000566044.1_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	0.0014	5008	,	,		17538	0.0		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	208.0	188.0	194.0		2284,2263	3.8	1.0	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	68	0		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		
NKD1	85407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	50667165	50667165	+	Missense_Mutation	SNP	C	C	T			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						.						110.0	108.0	109.0					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	312	1		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		
DOK4	55715	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	57507532	57507532	+	Silent	SNP	G	G	A			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_ENST00000566936.1_Silent_p.S285S|DOK4_ENST00000569548.1_Silent_p.S285S|DOK4_ENST00000561918.1_5'Flank	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						.						139.0	128.0	131.0					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		224	0		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		
CDH8	1006	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	61761065	61761065	+	Missense_Mutation	SNP	T	T	C			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						.						187.0	171.0	176.0					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	161	1		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	
LRRC36	55282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	67380244	67380244	+	Missense_Mutation	SNP	C	C	T	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_ENST00000563189.1_5'Flank|LRRC36_ENST00000541146.1_5'Flank|LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000290940.7_5'Flank|LRRC36_ENST00000435835.3_5'Flank	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	0.0008	0.0	5008	,	,		20003	0.0		0.0	False		,,,				2504	0.0				p.P95L		.											.	LRRC36-90	0			c.C284T						.						120.0	118.0	119.0					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	110	0		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	
C16orf86	388284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	67701268	67701268	+	Missense_Mutation	SNP	C	C	T			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	C16orf86_ENST00000602974.1_Intron|ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000602644.1_5'Flank	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						.						21.0	27.0	25.0					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	193	1		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	
CENPT	80152	broad.mit.edu	37	16	67859858	67859858	+	IGR	SNP	G	G	T			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_ENST00000388833.3_Missense_Mutation_p.K287N|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.K341N|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.K272N	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						.						56.0	47.0	50.0					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		126	0		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	
VPS4A	27183	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	69352767	69352767	+	Missense_Mutation	SNP	G	G	A			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	RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.V153M|COG8_ENST00000564419.1_5'Flank	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						.						121.0	136.0	132.0					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	64	0		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	
MLYCD	23417	hgsc.bcm.edu	37	16	83933193	83933193	+	Silent	SNP	C	C	T	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	0.0				p.D148D		.											.	MLYCD-90	0			c.C444T						.	C		252,2956		9,234,1361	6.0	7.0	7.0		444	2.6	1.0	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		0	0		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	
MBTPS1	8720	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	84092913	84092913	+	Missense_Mutation	SNP	G	G	A			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						.						76.0	73.0	74.0					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	155	0		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	
IL17C	27189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	88706470	88706470	+	Missense_Mutation	SNP	G	G	A	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	0.0014	5008	,	,		17095	0.0		0.0	False		,,,				2504	0.0				p.R195H		.											.	IL17C-90	0			c.G584A						.	G	HIS/ARG	0,3882		0,0,1941	43.0	49.0	47.0		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	115	0		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	
APRT	353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	88873021	88873021	+	IGR	SNP	C	C	T			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						.						15.0	18.0	17.0					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		99	0		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	
CPNE7	27132	broad.mit.edu;bcgsc.ca	37	16	89661966	89661966	+	Silent	SNP	G	G	A			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_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Silent_p.A498A	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						.						42.0	41.0	41.0					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		71	0		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		
DEF8	54849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	90021667	90021667	+	Missense_Mutation	SNP	G	G	A			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_ENST00000569453.1_Missense_Mutation_p.R72H|DEF8_ENST00000570182.1_Missense_Mutation_p.R72H|DEF8_ENST00000567874.1_Missense_Mutation_p.R12H|DEF8_ENST00000563594.1_Missense_Mutation_p.R72H|DEF8_ENST00000418391.2_Missense_Mutation_p.R72H|DEF8_ENST00000563795.1_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						.						84.0	80.0	81.0					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	189	0		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	
ZZEF1	23140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	3954155	3954155	+	Missense_Mutation	SNP	G	G	A			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						.						64.0	59.0	61.0					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	110	0		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	
ANKFY1	51479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	4071191	4071191	+	Missense_Mutation	SNP	C	C	T			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	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.R1132H|ANKFY1_ENST00000570535.1_Missense_Mutation_p.R1173H	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						.						61.0	66.0	64.0					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	70	0		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	
SPNS3	201305	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	4348462	4348462	+	Splice_Site	SNP	G	G	C	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						.						102.0	86.0	92.0					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		176	1		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
NLRP1	22861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	5436698	5436698	+	Missense_Mutation	SNP	G	G	A			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_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.A1020V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A990V|NLRP1_ENST00000345221.3_Missense_Mutation_p.A1020V|NLRP1_ENST00000354411.3_Missense_Mutation_p.A990V|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						.						54.0	50.0	51.0					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	33	0		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	
KIAA0753	9851	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	6502594	6502594	+	Missense_Mutation	SNP	G	G	A			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_ENST00000575027.1_5'UTR|KIAA0753_ENST00000572370.1_Missense_Mutation_p.S413L|RNA5SP435_ENST00000364044.1_RNA|KIAA0753_ENST00000542606.1_Missense_Mutation_p.S413L|KIAA0753_ENST00000589033.1_Missense_Mutation_p.S168L	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						.						97.0	94.0	95.0					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	111	0		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	
DVL2	1856	broad.mit.edu	37	17	7132483	7132483	+	Missense_Mutation	SNP	G	G	A	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_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Missense_Mutation_p.R304C	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	64.0	63.0	63.0		928	5.3	1.0	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	141	0		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	
NEURL4	84461	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	7224496	7224496	+	Missense_Mutation	SNP	A	A	G			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	NEURL4_ENST00000574120.1_5'Flank|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.S1075P|NEURL4_ENST00000315614.7_Missense_Mutation_p.S1097P	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						.						62.0	67.0	65.0					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	229	0		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	
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	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_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_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		.						132.0	118.0	123.0					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*	188	0		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	
KDM6B	23135	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	7752034	7752034	+	Missense_Mutation	SNP	G	G	A	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	45.0	49.0	47.0		2428	4.5	1.0	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	105	0		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	
MPRIP	23164	hgsc.bcm.edu;bcgsc.ca	37	17	17046886	17046886	+	Frame_Shift_Del	DEL	C	C	-			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_ENST00000395811.5_Frame_Shift_Del_p.A351fs|MPRIP_ENST00000444976.1_Intron			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						.						54.0	48.0	50.0					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	97	1		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	
MYO15A	51168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	18054476	18054476	+	Missense_Mutation	SNP	C	C	T			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						.						103.0	116.0	112.0					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	92	0		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	
FLII	2314	broad.mit.edu	37	17	18152474	18152474	+	Missense_Mutation	SNP	G	G	T			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_ENST00000579294.1_Missense_Mutation_p.P623H|FLII_ENST00000545457.2_Missense_Mutation_p.P579H|FLII_ENST00000379450.4_Missense_Mutation_p.P548H|FLII_ENST00000578558.1_Missense_Mutation_p.P633H	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						.						133.0	123.0	127.0					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	122	0		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	
SLC13A2	9058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	26800779	26800779	+	Missense_Mutation	SNP	G	G	A			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_ENST00000537681.1_5'UTR|SLC13A2_ENST00000545060.1_Missense_Mutation_p.V17M|SLC13A2_ENST00000444914.3_Missense_Mutation_p.V17M	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						.						108.0	75.0	86.0					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	161	0		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	
SPAG5	10615	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	26919548	26919548	+	Silent	SNP	G	G	A			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						.						129.0	118.0	122.0					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		119	0		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	
EFCAB5	374786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	28405430	28405430	+	Missense_Mutation	SNP	C	C	T	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_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R855W	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	0.0	5008	,	,		18814	0.0		0.0	False		,,,				2504	0.001				p.R979W		.											.	EFCAB5-70	0			c.C2935T						.	C	TRP/ARG	0,3856		0,0,1928	83.0	83.0	83.0		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	192	0		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	
ATAD5	79915	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	29204542	29204542	+	Missense_Mutation	SNP	C	C	T			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						.						77.0	86.0	83.0					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	170	2		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	
RFFL	117584	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	33338994	33338994	+	Missense_Mutation	SNP	C	C	T			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_ENST00000268850.7_Missense_Mutation_p.R326Q|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.R271Q|RFFL_ENST00000413582.2_Missense_Mutation_p.R354Q|RFFL_ENST00000584655.1_Missense_Mutation_p.R326Q|RFFL_ENST00000394597.2_Missense_Mutation_p.R362Q|RFFL_ENST00000447669.2_Missense_Mutation_p.R362Q|RFFL_ENST00000415395.2_Missense_Mutation_p.R362Q|RP5-837J1.2_ENST00000578488.1_RNA|RFFL_ENST00000378516.2_Missense_Mutation_p.R354Q					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						.						107.0	91.0	96.0					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	152	1		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	
ACACA	31	bcgsc.ca	37	17	35581989	35581989	+	Missense_Mutation	SNP	C	C	T			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_ENST00000360679.3_Missense_Mutation_p.R1038H|ACACA_ENST00000335166.5_Missense_Mutation_p.R1018H|ACACA_ENST00000353139.5_Missense_Mutation_p.R1133H	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						.						106.0	97.0	100.0					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	283	2		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	
ARHGAP23	57636	hgsc.bcm.edu	37	17	36666551	36666551	+	Silent	SNP	T	T	C	rs62074752	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.chr17:36666551T>C	ENST00000431231.2	+	24	3887	c.3819T>C	c.(3817-3819)gaT>gaC	p.D1273D	ARHGAP23_ENST00000443378.1_Silent_p.D1179D	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	1273					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						GGGCGGGGGATGAGGCGGACG	0.746													C|||	4194	0.83746	0.792	0.8617	5008	,	,		5789	0.9365		0.7883	False		,,,				2504	0.8303				p.D1273D		.											.	ARHGAP23-205	0			c.T3819C						.						2.0	3.0	3.0					17																	36666551		517	1330	1847	SO:0001819	synonymous_variant	57636	exon24			GGGGGATGAGGCG	AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.3819T>C	17.37:g.36666551T>C		0	0		7	7	NM_001199417	0	0	0	1	1		Silent	SNP	ENST00000431231.2	37	CCDS56027.1																																																																																			C|0.823;G|0.000;T|0.177		0.746	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441789.1	XM_290799	
GSDMA	284110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	38130530	38130530	+	Silent	SNP	C	C	T	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	0.0	5008	,	,		17337	0.0		0.0	False		,,,				2504	0.001				p.D252D		.											.	GSDMA-90	0			c.C756T						.						38.0	36.0	37.0					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		114	0		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	
TNS4	84951	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	38633890	38633890	+	Missense_Mutation	SNP	G	G	T			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						.						125.0	99.0	108.0					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	156	0		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	
KRT33B	3884	broad.mit.edu	37	17	39521763	39521763	+	Missense_Mutation	SNP	C	C	T			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						.						62.0	61.0	61.0					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	224	0		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	
MLX	6945	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	40720854	40720856	+	Splice_Site	DEL	GAT	GAT	-			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		304	0		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
WNT3	7473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	44846089	44846089	+	Nonsense_Mutation	SNP	C	C	T			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						.						83.0	85.0	85.0					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*	201	1		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	
BZRAP1	9256	broad.mit.edu	37	17	56388998	56388998	+	Silent	SNP	G	G	T	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_ENST00000268893.6_Silent_p.I945I|BZRAP1_ENST00000355701.3_Silent_p.I1005I			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						.						79.0	69.0	72.0					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		194	0		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	
CLTC	1213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	57754463	57754463	+	Missense_Mutation	SNP	G	G	A	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_ENST00000393043.1_Missense_Mutation_p.V904I|CLTC_ENST00000579456.1_Intron	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	119.0	118.0	118.0		2710	5.7	1.0	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	142	1		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	
KCNH6	81033	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	61621675	61621675	+	Frame_Shift_Del	DEL	C	C	-			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						.						41.0	45.0	43.0					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	120	0		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	
DDX42	11325	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	61895428	61895428	+	Silent	SNP	C	C	T	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_ENST00000582985.1_Intron|DDX42_ENST00000389924.2_Silent_p.S829S|DDX42_ENST00000359353.5_Silent_p.S710S	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	59.0	56.0	57.0		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		85	0		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	
TEX2	55852	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	62271012	62271012	+	Nonsense_Mutation	SNP	G	G	A	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						.						144.0	141.0	142.0					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*	168	1		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	
ARSG	22901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	66391298	66391298	+	Silent	SNP	C	C	T	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	0.0	5008	,	,		20367	0.0		0.0	False		,,,				2504	0.001				p.S392S		.											.	ARSG-91	0			c.C1176T						.						144.0	114.0	124.0					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		168	0		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	
ABCA9	10350	bcgsc.ca	37	17	67028260	67028260	+	Silent	SNP	T	T	C	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	82.0	75.0	78.0		1434	3.8	1.0	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		123	1		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	
ABCA6	23460	hgsc.bcm.edu;bcgsc.ca	37	17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-			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						.						75.0	81.0	79.0					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	202	1		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	
CPSF4L	642843	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	71257098	71257098	+	Missense_Mutation	SNP	A	A	G			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.chr17:71257098A>G	ENST00000344935.4	-	2	189	c.128T>C	c.(127-129)tTc>tCc	p.F43S	CPSF4L_ENST00000397671.1_5'UTR	NM_001129885.1	NP_001123357.1	A6NMK7	CPS4L_HUMAN	cleavage and polyadenylation specific factor 4-like	43							metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|prostate(1)	2						TTTAGTGAAGAAGTTGCACAC	0.587																																					p.F43S		.											.	CPSF4L-68	0			c.T128C						.						88.0	84.0	85.0					17																	71257098		692	1591	2283	SO:0001583	missense	642843	exon2			GTGAAGAAGTTGC		CCDS45768.1	17q25.1	2010-07-06			ENSG00000187959	ENSG00000187959			33632	protein-coding gene	gene with protein product							Standard	NM_001129885		Approved		uc010dfk.1	A6NMK7	OTTHUMG00000132640	ENST00000344935.4:c.128T>C	17.37:g.71257098A>G	ENSP00000343900:p.Phe43Ser	104	0		41	35	NM_001129885	0	0	0	0	0	A8MU95|B2RXI9	Missense_Mutation	SNP	ENST00000344935.4	37	CCDS45768.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.411707	0.42817	.	.	ENSG00000187959	ENST00000344935	T	0.52983	0.64	4.1	3.02	0.34903	Zinc finger, CCCH-type (2);	.	.	.	.	T	0.48909	0.1526	M	0.82716	2.605	0.80722	D	1	P	0.38048	0.616	B	0.37780	0.258	T	0.49826	-0.8898	9	0.56958	D	0.05	.	7.6119	0.28135	0.8968:0.0:0.1032:0.0	.	43	A6NMK7	CPS4L_HUMAN	S	43	ENSP00000343900:F43S	ENSP00000343900:F43S	F	-	2	0	CPSF4L	68768693	1.000000	0.71417	0.779000	0.31741	0.431000	0.31685	4.143000	0.58051	0.650000	0.30769	-0.388000	0.06559	TTC	.		0.587	CPSF4L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441896.1	NM_001129885	
GRIN2C	2905	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	72838754	72838754	+	Silent	SNP	G	G	A			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						.						8.0	11.0	10.0					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		82	0		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		
TRIM65	201292	broad.mit.edu	37	17	73888574	73888574	+	Missense_Mutation	SNP	G	G	T			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						.						29.0	32.0	31.0					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	133	0		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	
DNAH17	8632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	76424720	76424720	+	Silent	SNP	G	G	A	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_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.N4152N	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	106.0	92.0	97.0		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		226	0		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	
SGSH	6448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	78188920	78188920	+	Silent	SNP	G	G	A			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_ENST00000534910.1_Intron|SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Missense_Mutation_p.T101M	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						.						77.0	62.0	67.0					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		58	0		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	
BAHCC1	57597	bcgsc.ca	37	17	79424537	79424537	+	Silent	SNP	C	C	T	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	17.0	24.0	21.0		4789	3.9	1.0	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		122	1		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			
BAHCC1	57597	broad.mit.edu;bcgsc.ca	37	17	79424588	79424590	+	In_Frame_Del	DEL	AAG	AAG	-	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	101	0		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			
LAMA1	284217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	6997824	6997824	+	Missense_Mutation	SNP	C	C	T	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	212.0	193.0	199.0		4723	1.6	0.0	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	117	0		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	
PIEZO2	63895	broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	10672692	10672692	+	Silent	SNP	G	G	A	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_ENST00000302079.6_Silent_p.G2604G|PIEZO2_ENST00000538948.1_Silent_p.G624G|PIEZO2_ENST00000580640.1_Silent_p.G2692G|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Silent_p.G459G	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	0.0	5008	,	,		18529	0.0		0.001	False		,,,				2504	0.0				p.G2667G		.											.	.	0			c.C8001T						.	G		2,4404	4.2+/-10.8	0,2,2201	104.0	99.0	101.0		8001	4.0	1.0	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		78	1		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	
CDH2	1000	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	25582999	25582999	+	Missense_Mutation	SNP	C	C	A	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						.						248.0	206.0	220.0					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	271	1		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	
CCDC178	374864	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	30672841	30672841	+	Missense_Mutation	SNP	G	G	A	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_ENST00000579947.1_Missense_Mutation_p.R758C|CCDC178_ENST00000581852.1_Intron|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.R720C|CCDC178_ENST00000583930.1_Missense_Mutation_p.R758C|CCDC178_ENST00000402325.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.R758C|CCDC178_ENST00000403303.1_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	41.0	43.0	42.0		2272,2158	5.0	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	89	0		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	
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	31250678	31250678	+	Missense_Mutation	SNP	G	G	A			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						.						76.0	79.0	78.0					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	141	1		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		
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	18	31324011	31324011	+	Missense_Mutation	SNP	C	C	G	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						.						120.0	123.0	122.0					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	150	0	823	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		
SLC14A1	6563	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	18	43319234	43319234	+	Missense_Mutation	SNP	G	G	A	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_ENST00000586213.1_RNA|SLC14A1_ENST00000535474.1_Missense_Mutation_p.C125Y|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591541.1_5'Flank|SLC14A1_ENST00000589700.1_Intron|SLC14A1_ENST00000502059.2_Missense_Mutation_p.C149Y|SLC14A1_ENST00000415427.3_Missense_Mutation_p.C313Y|SLC14A1_ENST00000586142.1_Missense_Mutation_p.C257Y|SLC14A1_ENST00000402943.2_Missense_Mutation_p.C152Y	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						.						103.0	92.0	96.0					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	145	0		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	
LOXHD1	125336	broad.mit.edu;bcgsc.ca	37	18	44159642	44159642	+	Missense_Mutation	SNP	C	C	T			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.chr18:44159642C>T	ENST00000398722.4	-	6	925	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	LOXHD1_ENST00000441551.2_Missense_Mutation_p.R587Q|LOXHD1_ENST00000536736.1_Missense_Mutation_p.R587Q			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	309	PLAT 3. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						GTAGAGCAGCCGTTCCCCCGT	0.532																																					p.R587Q		.											.	.	0			c.G1760A						.						243.0	226.0	231.0					18																	44159642		692	1591	2283	SO:0001583	missense	125336	exon13			AGCAGCCGTTCCC	AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.926G>A	18.37:g.44159642C>T	ENSP00000381707:p.Arg309Gln	393	2		256	10	NM_144612	0	0	0	0	0	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	ENST00000398722.4	37		.	.	.	.	.	.	.	.	.	.	C	18.41	3.618452	0.66787	.	.	ENSG00000167210	ENST00000398722;ENST00000536736;ENST00000335730	T;T	0.23147	1.92;1.92	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.57213	-0.7850	10	0.35671	T	0.21	.	18.7535	0.91823	0.0:1.0:0.0:0.0	.	587;309	F5GZB4;Q8IVV2-2	.;.	Q	309;587;309	ENSP00000381707:R309Q;ENSP00000444586:R587Q	ENSP00000338222:R309Q	R	-	2	0	LOXHD1	42413640	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.831000	0.75324	2.596000	0.87737	0.462000	0.41574	CGG	.		0.532	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_144612	
LOXHD1	125336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	44181267	44181267	+	Silent	SNP	G	G	A			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.chr18:44181267G>A	ENST00000398722.4	-	1	212	c.213C>T	c.(211-213)atC>atT	p.I71I	LOXHD1_ENST00000441551.2_Silent_p.I349I|LOXHD1_ENST00000536736.1_Silent_p.I349I			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	71	PLAT 1. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						CAGCCAGCTCGATGTGGAAGA	0.577																																					p.I349I		.											.	.	0			c.C1047T						.						77.0	67.0	70.0					18																	44181267		692	1591	2283	SO:0001819	synonymous_variant	125336	exon8			CAGCTCGATGTGG	AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.213C>T	18.37:g.44181267G>A		117	0		91	51	NM_144612	0	0	0	0	0	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Silent	SNP	ENST00000398722.4	37		.	.	.	.	.	.	.	.	.	.	G	10.79	1.448615	0.26074	.	.	ENSG00000167210	ENST00000441551	.	.	.	5.56	-4.19	0.03835	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.383	0.04358	0.4717:0.1143:0.2417:0.1723	.	.	.	.	X	330	.	.	R	-	1	2	LOXHD1	42435265	0.000000	0.05858	0.935000	0.37517	0.987000	0.75469	-1.585000	0.02112	-0.781000	0.04548	-0.310000	0.09108	CGA	.		0.577	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_144612	
CXXC1	30827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	47809921	47809921	+	Missense_Mutation	SNP	G	G	A			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_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.T513M|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000349085.2_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_ENST00000269468.5_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000382948.5_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						.						79.0	59.0	66.0					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	267	1		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	
NEDD4L	23327	broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	56063446	56063446	+	Missense_Mutation	SNP	G	G	A			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_ENST00000431212.2_Missense_Mutation_p.R837Q|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R894Q|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R950Q|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R854Q|RP11-845C23.3_ENST00000590318.1_RNA|NEDD4L_ENST00000456986.1_Missense_Mutation_p.R837Q|NEDD4L_ENST00000589054.1_Missense_Mutation_p.R89Q|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R817Q|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R930Q|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R818Q|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R817Q|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R938Q	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						.						107.0	92.0	97.0					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	74	1		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		
TNFRSF11A	8792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	60017106	60017106	+	Silent	SNP	G	G	A			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						.						192.0	182.0	185.0					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		105	0		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		
SERPINB2	5055	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	61564454	61564454	+	Splice_Site	SNP	G	G	A			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_ENST00000457692.1_Splice_Site|SERPINB2_ENST00000482254.1_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						.						99.0	100.0	100.0					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		43	0		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
ZNF407	55628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	72347651	72347651	+	Missense_Mutation	SNP	G	G	A			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_ENST00000309902.6_Missense_Mutation_p.R1559H|ZNF407_ENST00000582337.1_Missense_Mutation_p.R1559H|ZNF407_ENST00000577538.1_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						.						79.0	84.0	82.0					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	110	0		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	
ARID3A	1820	hgsc.bcm.edu	37	19	929753	929753	+	Silent	SNP	A	A	G	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	4.0	5.0	5.0		225	-6.8	0.0	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		0	0		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	
ATP8B3	148229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	1796766	1796766	+	Missense_Mutation	SNP	C	C	T			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						.						28.0	35.0	32.0					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	46	0		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	
NCLN	56926	broad.mit.edu	37	19	3198895	3198895	+	Splice_Site	SNP	C	C	T			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						.						82.0	62.0	69.0					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		120	0		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
TBXA2R	6915	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	3595765	3595765	+	Missense_Mutation	SNP	C	C	T			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_ENST00000411851.3_Missense_Mutation_p.R318H|TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000589966.1_Silent_p.A188A	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						.						15.0	20.0	18.0					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	76	0		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		
PLIN3	10226	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	4839518	4839518	+	Missense_Mutation	SNP	G	G	A			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	PLIN3_ENST00000585479.1_Missense_Mutation_p.R330W|PLIN3_ENST00000592528.1_Missense_Mutation_p.R319W|CTC-518P12.6_ENST00000591657.1_RNA	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						.						29.0	25.0	26.0					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	132	1		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	
PTPRS	5802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	5244045	5244045	+	Silent	SNP	G	G	A			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_ENST00000353284.2_Silent_p.N466N|PTPRS_ENST00000357368.4_Silent_p.N479N|PTPRS_ENST00000262963.6_Silent_p.N475N|PTPRS_ENST00000588012.1_Silent_p.N466N|PTPRS_ENST00000592099.1_Silent_p.N466N|PTPRS_ENST00000348075.2_Silent_p.N466N|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000372412.4_Silent_p.N480N			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						.						104.0	86.0	92.0					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		46	0		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		
ARHGEF18	23370	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	7529570	7529576	+	Splice_Site	DEL	GCAGGTG	GCAGGTG	-			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		142	0		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
FBN3	84467	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	8203066	8203066	+	Missense_Mutation	SNP	G	G	A	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_ENST00000270509.2_Missense_Mutation_p.A387V|FBN3_ENST00000601739.1_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	0.0008	0.0	5008	,	,		16552	0.0		0.001	False		,,,				2504	0.0				p.A387V		.											.	FBN3-100	0			c.C1160T						.	G	VAL/ALA	0,4396		0,0,2198	18.0	22.0	21.0		1160	2.2	0.0	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	90	1		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	
KANK3	256949	hgsc.bcm.edu	37	19	8399709	8399709	+	Silent	SNP	C	C	A	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						.						1.0	1.0	1.0					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		0	0		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	
RAB11B	9230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	8464942	8464942	+	Splice_Site	SNP	C	C	T			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						.						46.0	44.0	45.0					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		92	0		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
PIN1	5300	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9959811	9959811	+	Missense_Mutation	SNP	C	C	T	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	AC008752.3_ENST00000582439.1_RNA|PIN1_ENST00000588695.1_Missense_Mutation_p.T143M|PIN1_ENST00000380889.6_3'UTR	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						.						55.0	50.0	51.0					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	54	0		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		
COL5A3	50509	broad.mit.edu	37	19	10088375	10088375	+	Silent	SNP	G	G	T			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.chr19:10088375G>T	ENST00000264828.3	-	42	3106	c.3021C>A	c.(3019-3021)ggC>ggA	p.G1007G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1007	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)			CACCAGGGGAGCCCTGAGAAC	0.572																																					p.G1007G		.											.	COL5A3-99	0			c.C3021A						.																																			SO:0001819	synonymous_variant	50509	exon42			AGGGGAGCCCTGA	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.3021C>A	19.37:g.10088375G>T		63	1		136	12	NM_015719	0	0	0	0	0	Q9NZQ6	Silent	SNP	ENST00000264828.3	37	CCDS12222.1																																																																																			.		0.572	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
TYK2	7297	hgsc.bcm.edu;bcgsc.ca	37	19	10479028	10479028	+	Frame_Shift_Del	DEL	G	G	-			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_ENST00000529370.1_Frame_Shift_Del_p.P87fs|TYK2_ENST00000264818.6_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						.						144.0	130.0	135.0					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	285	2		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		
ILF3	3609	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	10798173	10798173	+	Silent	SNP	C	C	T			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_ENST00000588657.1_Silent_p.H741H|ILF3_ENST00000449870.1_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						.						31.0	32.0	32.0					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		166	0		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		
LDLR	3949	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	11218155	11218155	+	Missense_Mutation	SNP	G	G	T			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_ENST00000558013.1_Missense_Mutation_p.C302F|LDLR_ENST00000535915.1_Missense_Mutation_p.C261F|LDLR_ENST00000545707.1_Missense_Mutation_p.C175F|LDLR_ENST00000557933.1_Missense_Mutation_p.C302F|LDLR_ENST00000455727.2_Missense_Mutation_p.C134F	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		.						123.0	104.0	110.0					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	253	0		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		
ZNF563	147837	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	12429665	12429665	+	Missense_Mutation	SNP	G	G	A	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						.						190.0	181.0	184.0					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	148	0		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	
ASNA1	439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	12858083	12858083	+	Missense_Mutation	SNP	G	G	A			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						.						62.0	55.0	58.0					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	119	0		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	
HOOK2	29911	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	12881872	12881872	+	Missense_Mutation	SNP	C	C	A			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_ENST00000264827.5_Missense_Mutation_p.R259M|HOOK2_ENST00000589965.1_Intron	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						.						16.0	20.0	19.0					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	118	0		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	
MAST1	22983	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	12980051	12980051	+	Missense_Mutation	SNP	G	G	A			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						.						71.0	60.0	64.0					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	162	1		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	
KLF1	10661	broad.mit.edu	37	19	12995769	12995769	+	Missense_Mutation	SNP	C	C	T			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						.						47.0	51.0	50.0					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	119	0		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	
FARSA	2193	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	13035057	13035057	+	Silent	SNP	G	G	A			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						.						75.0	78.0	77.0					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		105	1		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	
TECR	9524	bcgsc.ca;mdanderson.org	37	19	14640387	14640387	+	5'UTR	SNP	G	G	A			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.chr19:14640387G>A	ENST00000215567.5	+	0	16				TECR_ENST00000596073.1_5'Flank|DNAJB1_ENST00000396969.4_5'Flank|TECR_ENST00000436007.2_5'Flank|TECR_ENST00000600083.1_5'Flank|MIR639_ENST00000384974.1_RNA	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase						cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|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 endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						CTGGAGGGGCGGGGCGGACGC	0.706																																					.		.											.	.	0			.						.						9.0	12.0	11.0					19																	14640387		1543	3555	5098	SO:0001623	5_prime_UTR_variant	693224	.			AGGGGCGGGGCGG	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.-122G>A	19.37:g.14640387G>A		29	0		168	63	.	0	0	1	2	1	B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	RNA	SNP	ENST00000215567.5	37	CCDS12313.1																																																																																			.		0.706	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501	
CCDC105	126402	hgsc.bcm.edu	37	19	15133926	15133926	+	Missense_Mutation	SNP	C	C	A	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	7.0	9.0	8.0		1495	-6.6	0.0	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	1	0		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	
NOTCH3	4854	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	15292567	15292567	+	Missense_Mutation	SNP	A	A	G			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						.						36.0	31.0	33.0					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	83	0		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	
BRD4	23476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	15355539	15355539	+	Silent	SNP	G	G	A	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						.						146.0	142.0	143.0					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		123	0		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	
CYP4F8	11283	broad.mit.edu;bcgsc.ca	37	19	15740063	15740063	+	RNA	SNP	G	G	A			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			.						.						54.0	52.0	53.0					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		216	0		361	12	.	0	0	1	1	0		RNA	SNP	ENST00000441682.2	37																																																																																				.		0.642	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253	
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			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.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																					p.335_336del		.											.	CHERP-92	0			c.1005_1007del						.																																			SO:0001651	inframe_deletion	10523	exon8			TGCTGTTGCTGCT	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del	125	0		227	7	NM_006387	0	0	0	0	0		In_Frame_Del	DEL	ENST00000198939.6	37																																																																																				.		0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387	
MAP1S	55201	hgsc.bcm.edu	37	19	17837425	17837425	+	Missense_Mutation	SNP	C	C	G	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	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	5.0	5.0	5.0		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	3	0		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	
JAK3	3718	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	17945987	17945987	+	Missense_Mutation	SNP	C	C	T			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_ENST00000458235.1_Missense_Mutation_p.R651Q|JAK3_ENST00000534444.1_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						.						33.0	36.0	35.0					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	85	0		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	
CRTC1	23373	broad.mit.edu	37	19	18887993	18887993	+	Frame_Shift_Del	DEL	C	C	-			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.chr19:18887993delC	ENST00000321949.8	+	14	1732	c.1706delC	c.(1705-1707)tccfs	p.S569fs	CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S528fs|CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S327fs|CRTC1_ENST00000338797.6_Frame_Shift_Del_p.S585fs	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACAGGAGAGTCCCCCCCCAGC	0.637																																					p.S585fs		.											.	CRTC1-1361	2	Deletion - Frameshift(2)	large_intestine(2)	c.1754delC						.		,	36,4218		5,26,2096	32.0	37.0	35.0		,	3.8	1.0	19		34	39,8205		5,29,4088	no	frameshift,frameshift	CRTC1	NM_015321.2,NM_001098482.1	,	10,55,6184	A1A1,A1R,RR		0.4731,0.8463,0.6001	,	,	18887993	75,12423	2201	4298	6499	SO:0001589	frameshift_variant	23373	exon15			GAGAGTCCCCCCC	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.1706delC	19.37:g.18887993delC	ENSP00000323332:p.Ser569fs	20	0		15	5	NM_001098482	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000321949.8	37	CCDS32963.1																																																																																			.		0.637	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021	
ATP13A1	57130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	19770410	19770410	+	Splice_Site	SNP	T	T	G			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						.						54.0	59.0	57.0					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		94	0		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
PLEKHF1	79156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	30165469	30165469	+	Silent	SNP	G	G	A	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						.						16.0	15.0	16.0					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		35	0		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	
TSHZ3	57616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	31769263	31769263	+	Missense_Mutation	SNP	G	G	A	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	0.0	5008	,	,		19637	0.0		0.001	False		,,,				2504	0.0				p.A479V		.											.	TSHZ3-232	0			c.C1436T						.						181.0	182.0	182.0					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	107	0		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	
DMKN	93099	ucsc.edu;bcgsc.ca	37	19	35991471	35991471	+	Silent	SNP	C	C	T			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_ENST00000429837.1_Silent_p.A376A|DMKN_ENST00000414866.2_Silent_p.A130A|DMKN_ENST00000443640.1_Silent_p.A180A|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000408915.2_Silent_p.A31A|DMKN_ENST00000492341.2_Silent_p.A64A|DMKN_ENST00000602781.1_Silent_p.A130A|DMKN_ENST00000472252.2_Silent_p.A64A|DMKN_ENST00000419602.1_Silent_p.A406A|DMKN_ENST00000467637.1_Silent_p.A142A|DMKN_ENST00000402589.2_Silent_p.A130A|DMKN_ENST00000480502.1_Silent_p.A111A|DMKN_ENST00000436012.1_Silent_p.A113A	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						.						79.0	52.0	61.0					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		126	2		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	
KMT2B	9757	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	36218685	36218686	+	Frame_Shift_Del	DEL	TG	TG	-			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	259	0		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	
KMT2B	9757	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	36229230	36229230	+	Silent	SNP	C	C	T			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						.						77.0	85.0	82.0					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		161	2		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	
KIRREL2	84063	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	36357214	36357214	+	Frame_Shift_Del	DEL	C	C	-			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	KIRREL2_ENST00000592409.1_Frame_Shift_Del_p.V614fs|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000347900.6_Intron|APLP1_ENST00000221891.4_5'Flank|APLP1_ENST00000537454.2_5'Flank	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						.						86.0	88.0	88.0					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	31	0		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	
ZNF793	390927	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	38028650	38028650	+	Missense_Mutation	SNP	G	G	C			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_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000542455.1_Missense_Mutation_p.E364Q|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						.						65.0	73.0	70.0					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	66	0		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	
SPINT2	10653	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38780794	38780794	+	Missense_Mutation	SNP	C	C	T			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_ENST00000587090.1_Missense_Mutation_p.R93C|SPINT2_ENST00000454580.3_Missense_Mutation_p.R86C|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						.						77.0	71.0	73.0					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	198	0		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		
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	39018344	39018344	+	Missense_Mutation	SNP	C	C	T			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	AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000355481.4_Missense_Mutation_p.R3577C|RYR1_ENST00000360985.3_Missense_Mutation_p.R3582C			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						.						41.0	43.0	42.0					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	237	1		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		
PLEKHG2	64857	hgsc.bcm.edu;bcgsc.ca	37	19	39905656	39905656	+	Frame_Shift_Del	DEL	C	C	-			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_ENST00000378550.1_Frame_Shift_Del_p.S45fs|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000425673.1_Frame_Shift_Del_p.S45fs|PLEKHG2_ENST00000409797.2_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						.						9.0	9.0	9.0					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	195	0		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	
FCGBP	8857	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	40368454	40368454	+	Silent	SNP	C	C	T			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						.						108.0	105.0	106.0					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		360	0		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	
PSMC4	5704	bcgsc.ca	37	19	40486359	40486359	+	Missense_Mutation	SNP	A	A	T			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						.						96.0	101.0	99.0					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	72	2		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	
LTBP4	8425	broad.mit.edu	37	19	41119074	41119074	+	Silent	SNP	G	G	T			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.chr19:41119074G>T	ENST00000308370.7	+	19	2604	c.2604G>T	c.(2602-2604)gcG>gcT	p.A868A	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Silent_p.A801A|LTBP4_ENST00000204005.9_Silent_p.A831A|LTBP4_ENST00000545697.1_Silent_p.A321A|LTBP4_ENST00000243562.9_5'Flank	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	868	Cys-rich.|EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)	p.A868A(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTACCGGGCGCCGTCGGGTC	0.692																																					.		.											.	LTBP4-93	1	Substitution - coding silent(1)	prostate(1)	.						.						14.0	15.0	14.0					19																	41119074		1885	4101	5986	SO:0001819	synonymous_variant	8425	.			CCGGGCGCCGTCG	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.2604G>T	19.37:g.41119074G>T		9	0		60	11	.	0	1	6	7	0	O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37																																																																																				.		0.692	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573	
LTBP4	8425	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	41132999	41132999	+	Missense_Mutation	SNP	C	C	T	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_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.P1368S|LTBP4_ENST00000204005.9_Missense_Mutation_p.P1398S|LTBP4_ENST00000545697.1_Missense_Mutation_p.P803S|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	34.0	41.0	39.0		4305,4104,4194	4.6	1.0	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	95	0		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	
ADCK4	79934	broad.mit.edu	37	19	41211038	41211038	+	Missense_Mutation	SNP	C	C	T			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	ADCK4_ENST00000243583.6_Missense_Mutation_p.R139H|RNU6-195P_ENST00000411352.1_RNA|ADCK4_ENST00000450541.1_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						.						35.0	33.0	34.0					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	189	0		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	
ITPKC	80271	broad.mit.edu;bcgsc.ca	37	19	41245300	41245300	+	Silent	SNP	C	C	T	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	50.0	40.0	44.0		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		274	0		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	
GRIK5	2901	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	42525580	42525580	+	Missense_Mutation	SNP	G	G	A			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_ENST00000593562.1_Missense_Mutation_p.R582C|GRIK5_ENST00000301218.4_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						.						35.0	29.0	31.0					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	61	0		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		
LIPE	3991	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	42914843	42914843	+	Silent	SNP	C	C	T			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_ENST00000602000.1_Intron|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_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						.						20.0	20.0	20.0					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		37	0		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	
PSG6	5675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	43411758	43411758	+	Missense_Mutation	SNP	G	G	A	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_ENST00000187910.2_Missense_Mutation_p.R319C|PSG6_ENST00000402603.4_Intron	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	0.0	5008	,	,		21082	0.0		0.001	False		,,,				2504	0.0				p.R319C		.											.	PSG6-92	0			c.C955T						.						154.0	137.0	143.0					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	137	0		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	
PVR	5817	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	45157249	45157249	+	Missense_Mutation	SNP	C	C	T	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_ENST00000344956.4_Missense_Mutation_p.R269C|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Missense_Mutation_p.R269C|PVR_ENST00000406449.4_Missense_Mutation_p.R269C	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						.						87.0	91.0	90.0					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	71	0		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	
ERCC2	2068	hgsc.bcm.edu	37	19	45867259	45867259	+	Missense_Mutation	SNP	C	C	T	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_ENST00000391940.4_Missense_Mutation_p.D288N|ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391944.3_Missense_Mutation_p.D234N|ERCC2_ENST00000485403.2_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	5.0	8.0	7.0		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	0	0		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	
GPR4	2828	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	46094248	46094248	+	Missense_Mutation	SNP	C	C	T			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						.						54.0	54.0	54.0					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	127	1		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	
DMWD	1762	hgsc.bcm.edu	37	19	46289542	46289544	+	In_Frame_Del	DEL	CTC	CTC	-			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	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_In_Frame_Del_p.E404del|DMWD_ENST00000601370.1_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	41	1		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	
STRN4	29888	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	47236402	47236402	+	Missense_Mutation	SNP	C	C	T			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	STRN4_ENST00000391910.3_Missense_Mutation_p.G211R|STRN4_ENST00000539396.1_Missense_Mutation_p.G92R|CTB-174O21.2_ENST00000600716.1_RNA	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						.						46.0	41.0	43.0					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	41	0		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		
ARHGAP35	2909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	47423998	47423998	+	Missense_Mutation	SNP	G	G	A	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	0.0	5008	,	,		19691	0.0		0.001	False		,,,				2504	0.0				p.R689Q		.											.	.	0			c.G2066A						.						27.0	27.0	27.0					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	64	0		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	
ZC3H4	23211	broad.mit.edu;bcgsc.ca	37	19	47597799	47597799	+	Silent	SNP	G	G	A			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						.						241.0	243.0	242.0					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		199	1		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		
FAM83E	54854	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	49107038	49107038	+	Frame_Shift_Del	DEL	G	G	-	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	0.0			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	71	0		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	
RASIP1	54922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	49238683	49238683	+	Missense_Mutation	SNP	G	G	A			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						.						12.0	11.0	11.0					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	50	0		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	
DHDH	27294	bcgsc.ca	37	19	49445795	49445795	+	Missense_Mutation	SNP	G	G	A	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	59.0	53.0	55.0		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	247	5		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	
TRPM4	54795	hgsc.bcm.edu	37	19	49699770	49699770	+	Missense_Mutation	SNP	C	C	T	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	0.0	5008	,	,		9864	0.0		0.0	False		,,,				2504	0.001				p.R762C		.											.	TRPM4-91	0			c.C2284T						.						5.0	6.0	6.0					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	0	0		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	
FUZ	80199	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	50311889	50311889	+	Silent	SNP	C	C	G	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_ENST00000533418.1_Silent_p.L250L|FUZ_ENST00000445575.2_Silent_p.L300L|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000534008.1_5'Flank|FUZ_ENST00000528094.1_Silent_p.L264L	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						.						48.0	44.0	45.0					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		83	0		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	
PNKP	11284	broad.mit.edu	37	19	50370408	50370408	+	Silent	SNP	T	T	C			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_ENST00000596014.1_Silent_p.G18G|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.G18G|PNKP_ENST00000600573.1_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						.						13.0	16.0	15.0					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		39	1		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	
ZNF845	91664	broad.mit.edu	37	19	53856028	53856028	+	Silent	SNP	C	C	T			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						.						97.0	95.0	95.0					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		70	0		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	
LILRB4	11006	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	55177714	55177714	+	Missense_Mutation	SNP	C	C	T	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_ENST00000430952.2_Missense_Mutation_p.R300C|LILRB4_ENST00000391734.3_Missense_Mutation_p.R300C|LILRB4_ENST00000270452.2_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	0.0	5008	,	,		14724	0.0		0.008	False		,,,				2504	0.0				p.R300C		.											.	LILRB4-93	0			c.C898T						.	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	66.0	63.0	64.0		898,898	-0.5	0.0	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	140	0		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		
NLRP2	55655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	55494012	55494012	+	Missense_Mutation	SNP	G	G	A	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_ENST00000538819.1_Missense_Mutation_p.V292I|NLRP2_ENST00000391721.4_Missense_Mutation_p.V292I|NLRP2_ENST00000263437.6_Missense_Mutation_p.V313I|NLRP2_ENST00000427260.2_Missense_Mutation_p.V293I|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	0.0	5008	,	,		17190	0.0		0.0	False		,,,				2504	0.001				p.V316I		.											.	NLRP2-120	0			c.G946A						.						46.0	43.0	44.0					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	88	0		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	
TNNT1	7138	broad.mit.edu	37	19	55656925	55656925	+	Missense_Mutation	SNP	G	G	A	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_ENST00000592920.1_5'UTR|TNNT1_ENST00000587758.1_Missense_Mutation_p.R28C|TNNT1_ENST00000291901.8_Missense_Mutation_p.R39C|TNNT1_ENST00000587465.2_De_novo_Start_OutOfFrame|TNNT1_ENST00000536926.1_Intron|TNNT1_ENST00000585321.2_De_novo_Start_OutOfFrame|TNNT1_ENST00000356783.5_Missense_Mutation_p.R28C|TNNT1_ENST00000588426.1_Intron	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						.						161.0	168.0	165.0					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	35	0		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	
CCDC106	29903	broad.mit.edu	37	19	56162847	56162847	+	Missense_Mutation	SNP	G	G	A			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	CCDC106_ENST00000308964.3_Missense_Mutation_p.R171Q|CCDC106_ENST00000588740.1_Missense_Mutation_p.R171Q|CCDC106_ENST00000591578.1_Missense_Mutation_p.R171Q|CCDC106_ENST00000591241.1_Missense_Mutation_p.R136Q|U2AF2_ENST00000450554.2_5'Flank			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						.						23.0	19.0	20.0					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	195	0		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	
ZNF470	388566	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	57088962	57088964	+	In_Frame_Del	DEL	TAT	TAT	-			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_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_In_Frame_Del_p.Y390del	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	0.0			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	104	0		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	
PEG3	5178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	57328441	57328441	+	Missense_Mutation	SNP	A	A	G			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|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.C331R|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.C333R|PEG3_ENST00000423103.2_Missense_Mutation_p.C457R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron	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						.						204.0	177.0	186.0					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	321	1		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		
ZNF419	79744	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	58002904	58002904	+	Silent	SNP	C	C	T	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_ENST00000354197.4_Silent_p.D34D|ZNF419_ENST00000518999.1_Silent_p.D47D|ZNF419_ENST00000520540.1_Silent_p.D34D|ZNF419_ENST00000426954.2_Silent_p.D34D|ZNF419_ENST00000424930.2_Silent_p.D47D|ZNF419_ENST00000442920.2_Silent_p.D33D|ZNF419_ENST00000415379.2_Silent_p.D33D|ZNF419_ENST00000347466.6_Silent_p.D47D|AC003005.4_ENST00000601674.1_Silent_p.D33D			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	0.0	5008	,	,		19039	0.0		0.0	False		,,,				2504	0.001				p.D47D		.											.	ZNF419-90	0			c.C141T						.						147.0	141.0	143.0					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		268	0		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	
ZNF814	730051	ucsc.edu	37	19	58385033	58385033	+	Silent	SNP	A	A	G			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_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_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						.						99.0	79.0	85.0					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		88	0		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	
ZSCAN22	342945	bcgsc.ca	37	19	58846516	58846516	+	Silent	SNP	C	C	T			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						.						27.0	28.0	27.0					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		164	3		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	
ZBTB45	84878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	59028363	59028363	+	Silent	SNP	G	G	A			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_ENST00000600990.1_Silent_p.G226G|ZBTB45_ENST00000354590.3_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						.						184.0	191.0	188.0					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		158	0	1035	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	
TPO	7173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	1520736	1520736	+	Missense_Mutation	SNP	C	C	T			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_ENST00000337415.3_Missense_Mutation_p.S867L|TPO_ENST00000346956.3_Missense_Mutation_p.S823L|TPO_ENST00000329066.4_Missense_Mutation_p.S867L|TPO_ENST00000382201.3_Missense_Mutation_p.S810L|TPO_ENST00000349624.3_Missense_Mutation_p.S694L|TPO_ENST00000382198.1_Missense_Mutation_p.S694L|TPO_ENST00000497517.2_3'UTR	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						.						78.0	69.0	72.0					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	122	1		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	
LPIN1	23175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	11960588	11960588	+	Missense_Mutation	SNP	G	G	A	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_ENST00000404113.2_Missense_Mutation_p.V322I|LPIN1_ENST00000396099.1_Missense_Mutation_p.V863I|LPIN1_ENST00000425416.2_Missense_Mutation_p.V827I|LPIN1_ENST00000449576.2_Missense_Mutation_p.V906I	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	0.0008	0.0	5008	,	,		19564	0.0		0.0	False		,,,				2504	0.0				p.V906I		.											.	LPIN1-156	0			c.G2716A						.						123.0	114.0	117.0					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	134	1		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	
APOB	338	broad.mit.edu	37	2	21230766	21230766	+	Missense_Mutation	SNP	C	C	T			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						.						90.0	94.0	93.0					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	163	0		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		
EFR3B	22979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	25366724	25366724	+	Missense_Mutation	SNP	G	G	T			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.chr2:25366724G>T	ENST00000403714.3	+	18	2226	c.2043G>T	c.(2041-2043)caG>caT	p.Q681H	EFR3B_ENST00000402191.1_Missense_Mutation_p.Q646H|EFR3B_ENST00000405108.1_Missense_Mutation_p.Q533H|EFR3B_ENST00000401432.3_Missense_Mutation_p.Q681H	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	681										endometrium(1)	1						ACATTCCTCAGCTGACAGGTA	0.567																																					p.Q681H		.											.	.	0			c.G2043T						.						84.0	73.0	76.0					2																	25366724		692	1591	2283	SO:0001583	missense	22979	exon18			TCCTCAGCTGACA	AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.2043G>T	2.37:g.25366724G>T	ENSP00000384081:p.Gln681His	117	0		84	69	NM_014971	0	0	0	0	0	B7WPL8|Q86XU6	Missense_Mutation	SNP	ENST00000403714.3	37	CCDS46231.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030722	0.54790	.	.	ENSG00000084710	ENST00000401432;ENST00000403714;ENST00000402191;ENST00000545169;ENST00000405108;ENST00000264719	T;T;T;T;T	0.34859	1.34;1.42;1.42;1.42;1.38	4.84	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.71581	2.175	0.58432	D	0.999991	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.976	T	0.60485	-0.7254	10	0.52906	T	0.07	-32.4097	15.0493	0.71854	0.078:0.0:0.922:0.0	.	681;681	Q9Y2G0;Q9Y2G0-3	EFR3B_HUMAN;.	H	681;681;646;646;533;516	ENSP00000386082:Q681H;ENSP00000384081:Q681H;ENSP00000385832:Q646H;ENSP00000384454:Q533H;ENSP00000264719:Q516H	ENSP00000264719:Q516H	Q	+	3	2	EFR3B	25220228	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	4.460000	0.60108	0.666000	0.31087	-1.134000	0.01955	CAG	.		0.567	EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324808.1	NM_014971	
SLC30A6	55676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	32396391	32396391	+	Silent	SNP	C	C	T			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_ENST00000538303.1_Intron|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000379343.2_Silent_p.S13S|SLC30A6_ENST00000406369.1_Intron|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						.						107.0	106.0	107.0					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		165	0		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		
FEZ2	9637	hgsc.bcm.edu	37	2	36825137	36825137	+	Missense_Mutation	SNP	G	G	A	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						.						2.0	3.0	3.0					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	0	0		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		
SIX3	6496	hgsc.bcm.edu	37	2	45171842	45171842	+	Silent	SNP	A	A	G	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	18.0	19.0	19.0		942	1.0	1.0	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		0	0		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	
TMEM247	388946	ucsc.edu	37	2	46707808	46707808	+	Missense_Mutation	SNP	C	C	G	rs70940616|rs74318890		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.chr2:46707808C>G	ENST00000434431.1	+	2	382	c.382C>G	c.(382-384)Cag>Gag	p.Q128E		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	128						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GAACCAGCGGCAGCGGCAGCA	0.662																																					p.Q128E		.											.	.	0			c.C382G						.						30.0	40.0	37.0					2																	46707808		692	1591	2283	SO:0001583	missense	388946	exon2			CAGCGGCAGCGGC		CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	ENST00000434431.1:c.382C>G	2.37:g.46707808C>G	ENSP00000388684:p.Gln128Glu	214	4		259	33	NM_001145051	0	0	0	0	0		Missense_Mutation	SNP	ENST00000434431.1	37	CCDS56117.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447093	0.63178	.	.	ENSG00000187600	ENST00000434431	.	.	.	4.76	4.76	0.60689	.	0.000000	0.39475	N	0.001353	T	0.65606	0.2707	L	0.34521	1.04	.	.	.	D	0.56035	0.974	D	0.70487	0.969	T	0.71735	-0.4503	8	0.54805	T	0.06	-28.7409	14.7885	0.69821	0.0:1.0:0.0:0.0	.	128	A6NEH6	YB028_HUMAN	E	128	.	ENSP00000388684:Q128E	Q	+	1	0	AC018682.6	46561312	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	3.910000	0.56371	2.484000	0.83849	0.563000	0.77884	CAG	G|1.000;|0.000		0.662	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329726.1	NM_001145051	
MSH2	4436	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	47707899	47707900	+	Frame_Shift_Del	DEL	AG	AG	-	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_ENST00000543555.1_Frame_Shift_Del_p.E776fs|MSH2_ENST00000406134.1_Frame_Shift_Del_p.E842fs	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	155	0		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		
XPO1	7514	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	61729431	61729431	+	Missense_Mutation	SNP	C	C	T			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						.						55.0	55.0	55.0					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	111	0		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	
ARHGAP25	9938	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	69049670	69049670	+	Frame_Shift_Del	DEL	A	A	-			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_ENST00000479844.1_Frame_Shift_Del_p.K160fs|ARHGAP25_ENST00000409202.3_Frame_Shift_Del_p.K467fs|ARHGAP25_ENST00000467265.1_Frame_Shift_Del_p.K427fs|ARHGAP25_ENST00000409220.1_Frame_Shift_Del_p.K460fs|ARHGAP25_ENST00000409030.3_Frame_Shift_Del_p.K459fs	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						.						82.0	85.0	84.0					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	161	0		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	
STAMBP	10617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	74058012	74058012	+	Missense_Mutation	SNP	C	C	T			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_ENST00000536064.1_Missense_Mutation_p.P10L|STAMBP_ENST00000409707.1_Missense_Mutation_p.P10L|STAMBP_ENST00000339566.3_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						.						52.0	52.0	52.0					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	99	0		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	
LOXL3	84695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	74763595	74763595	+	Missense_Mutation	SNP	G	G	A			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_ENST00000409986.1_Missense_Mutation_p.R161C|LOXL3_ENST00000409549.1_Missense_Mutation_p.R306C	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						.						23.0	21.0	22.0					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	83	0		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	
GNLY	10578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	85922477	85922477	+	Silent	SNP	C	C	T	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	0.0	5008	,	,		19417	0.001		0.0	False		,,,				2504	0.0041				p.Y29Y		.											.	GNLY-90	0			c.C87T						.						86.0	70.0	75.0					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		196	0		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	
GNLY	10578	ucsc.edu;bcgsc.ca;mdanderson.org	37	2	85924745	85924745	+	Silent	SNP	C	C	T	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	84.0	76.0	79.0		372,327	-2.6	0.0	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		132	2		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	
POU3F3	5455	hgsc.bcm.edu	37	2	105472055	105472055	+	Silent	SNP	T	T	C	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						.						1.0	1.0	1.0					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		0	0		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		
RGPD3	653489	bcgsc.ca	37	2	107049414	107049414	+	Missense_Mutation	SNP	G	G	A	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						.						2.0	2.0	2.0					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	675	7		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	
RGPD3	653489	bcgsc.ca	37	2	107049425	107049425	+	Missense_Mutation	SNP	A	A	C			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.chr2:107049425A>C	ENST00000409886.3	-	17	2522	c.2435T>G	c.(2434-2436)cTg>cGg	p.L812R	RGPD3_ENST00000304514.7_Missense_Mutation_p.L812R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	812					protein targeting to Golgi (GO:0000042)			p.L812R(36)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AATCATTTTCAGTAAAGAATT	0.348																																					p.L812R		.											.	RGPD3-23	36	Substitution - Missense(36)	endometrium(36)	c.T2435G						.						3.0	4.0	3.0					2																	107049425		521	1257	1778	SO:0001583	missense	653489	exon17			ATTTTCAGTAAAG		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.2435T>G	2.37:g.107049425A>C	ENSP00000386588:p.Leu812Arg	658	8		554	84	NM_001144013	0	0	0	0	0	B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	4.464	0.086001	0.08583	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.25579	1.79;1.79	2.34	2.34	0.29019	.	.	.	.	.	T	0.43478	0.1249	M	0.66939	2.045	0.30318	N	0.787868	D	0.64830	0.994	D	0.77557	0.99	T	0.31280	-0.9949	9	0.33940	T	0.23	-3.3039	8.2338	0.31614	1.0:0.0:0.0:0.0	.	812	A6NKT7	RGPD3_HUMAN	R	812;570;812	ENSP00000386588:L812R;ENSP00000303659:L812R	ENSP00000303659:L812R	L	-	2	0	RGPD3	106415857	1.000000	0.71417	0.994000	0.49952	0.040000	0.13550	7.824000	0.86668	1.076000	0.40961	0.145000	0.16022	CTG	.		0.348	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931	
ST6GAL2	84620	broad.mit.edu	37	2	107459762	107459762	+	Silent	SNP	C	C	T			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						.						35.0	36.0	36.0					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		73	0		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	
GCC2	9648	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	109124031	109124031	+	Missense_Mutation	SNP	C	C	T			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						.						108.0	99.0	102.0					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	381	1		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	
EN1	2019	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	119600797	119600799	+	In_Frame_Del	DEL	TTC	TTC	-			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	1.0			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	52	0		30	19	NM_001426	0	0	0	0	0	Q4ZG44	In_Frame_Del	DEL	ENST00000295206.6	37	CCDS2123.1																																																																																			.		0.680	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3		
UGGT1	56886	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	128945079	128945079	+	Silent	SNP	G	G	A			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_ENST00000465836.1_3'UTR|UGGT1_ENST00000375990.3_Silent_p.P1487P	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						.						59.0	57.0	57.0					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		312	1		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	
SLC4A10	57282	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	162813676	162813676	+	Missense_Mutation	SNP	C	C	T			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_ENST00000415876.2_Missense_Mutation_p.R877W|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R877W|SLC4A10_ENST00000375514.5_Missense_Mutation_p.R888W|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R907W	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						.						66.0	67.0	67.0					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	116	0		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	
KCNH7	90134	hgsc.bcm.edu;broad.mit.edu	37	2	163236465	163236465	+	Missense_Mutation	SNP	G	G	C			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						.						198.0	183.0	188.0					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	127	0		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	
MYO3B	140469	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	171509587	171509587	+	Frame_Shift_Del	DEL	T	T	-			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_ENST00000334231.6_Frame_Shift_Del_p.F1338fs|AC007277.3_ENST00000428156.1_RNA|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Del_p.F1302fs	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						.						145.0	140.0	141.0					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	122	0		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		
CDCA7	83879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	174228042	174228042	+	Missense_Mutation	SNP	G	G	A			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_ENST00000306721.3_Missense_Mutation_p.R158Q|CDCA7_ENST00000410019.3_Missense_Mutation_p.R37Q|CDCA7_ENST00000392567.2_Missense_Mutation_p.R79Q|CDCA7_ENST00000410101.3_Missense_Mutation_p.R114Q	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						.						67.0	72.0	70.0					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	337	0		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	
TTN	7273	bcgsc.ca	37	2	179543217	179543217	+	Silent	SNP	C	C	T	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_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.E11278E|TTN_ENST00000342992.6_Silent_p.E10034E|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_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	36.0	33.0	34.0		,30102,,	1.4	1.0	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		115	0		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	
NAB1	4664	bcgsc.ca	37	2	191524587	191524587	+	Missense_Mutation	SNP	G	G	A			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_ENST00000545490.1_5'UTR|NAB1_ENST00000409581.1_Missense_Mutation_p.A229T|NAB1_ENST00000409641.1_Missense_Mutation_p.A229T|NAB1_ENST00000484774.1_3'UTR|NAB1_ENST00000357215.5_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						.						68.0	63.0	65.0					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	482	2		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	
CARF	79800	hgsc.bcm.edu	37	2	203817288	203817288	+	Missense_Mutation	SNP	G	G	A			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_ENST00000438828.2_Missense_Mutation_p.V105I|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545253.1_Missense_Mutation_p.V17I|CARF_ENST00000456821.2_Missense_Mutation_p.V93I|CARF_ENST00000444724.1_Missense_Mutation_p.V105I|CARF_ENST00000428585.1_Missense_Mutation_p.V29I|CARF_ENST00000434998.1_Missense_Mutation_p.V3I|CARF_ENST00000414439.1_Missense_Mutation_p.V3I|CARF_ENST00000545262.1_Missense_Mutation_p.V29I|CARF_ENST00000320443.8_Missense_Mutation_p.V105I|WDR12_ENST00000477723.1_Intron	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						.						137.0	121.0	126.0					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	55	0		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	
ABCA12	26154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	215820071	215820071	+	Missense_Mutation	SNP	G	G	A			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	ABCA12_ENST00000389661.4_Missense_Mutation_p.S1765F|AC072062.1_ENST00000607412.1_RNA	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						.						76.0	71.0	72.0					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	219	0		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	
CCDC108	255101	hgsc.bcm.edu;bcgsc.ca	37	2	219892999	219892999	+	Frame_Shift_Del	DEL	G	G	-	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_ENST00000453220.1_Frame_Shift_Del_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	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						.						85.0	89.0	87.0					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	141	1		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	
LRRFIP1	9208	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	238617211	238617211	+	Missense_Mutation	SNP	C	C	T			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						.						17.0	20.0	19.0					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	246	1		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	
GPC1	2817	broad.mit.edu;bcgsc.ca	37	2	241401648	241401648	+	Silent	SNP	G	G	A			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						.						18.0	22.0	21.0					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		177	0		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	
ZCCHC3	85364	hgsc.bcm.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs11468351|rs5839847|rs6147263	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	CGG	CGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccggcg>ccg	p.A159del		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	159	Poly-Ala.						poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768														4335	0.865615	0.8343	0.9395	5008	,	,		8937	0.8065		0.9423	False		,,,				2504	0.8374				p.154_155del		.											.	ZCCHC3-90	3	Deletion - In frame(3)	prostate(2)|large_intestine(1)	c.461_463del						.																																			SO:0001651	inframe_deletion	85364	exon1			ATGAGCCGGCGGC	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.461_463delCGG	20.37:g.278697_278699delCGG	ENSP00000371789:p.Ala159del	0	0		15	14	NM_033089	0	0	0	0	0	Q3B7J3|Q6NT79	In_Frame_Del	DEL	ENST00000382352.3	37	CCDS42844.1																																																																																			.		0.768	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1		
TCF15	6939	hgsc.bcm.edu	37	20	590456	590456	+	Silent	SNP	A	A	G	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	7.0	8.0	8.0		426	-9.0	0.0	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		0	0		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	
C20orf194	25943	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	3275220	3275220	+	Missense_Mutation	SNP	G	G	A			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_ENST00000498079.1_5'Flank|C20orf194_ENST00000453730.2_Missense_Mutation_p.R430W	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						.						66.0	65.0	65.0					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	75	0		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	
GFRA4	64096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	3640605	3640605	+	Missense_Mutation	SNP	C	C	T			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						.						25.0	26.0	26.0					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	60	0		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	
LOC149950	149950	broad.mit.edu;bcgsc.ca;mdanderson.org	37	20	31196470	31196470	+	Missense_Mutation	SNP	C	C	T			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.chr20:31196470C>T	ENST00000375670.1	+	3	621	c.389C>T	c.(388-390)gCa>gTa	p.A130V	RP11-410N8.4_ENST00000375671.3_Missense_Mutation_p.A130V																							cagctctgtgcagcctccctg	0.552																																					.		.											.	.	0			.						.																																			SO:0001583	missense	0	.			TCTGTGCAGCCTC																												ENST00000375670.1:c.389C>T	20.37:g.31196470C>T	ENSP00000364822:p.Ala130Val	23	0		38	14	.	0	0	0	0	0		RNA	SNP	ENST00000375670.1	37		.	.	.	.	.	.	.	.	.	.	C	8.207	0.799425	0.16397	.	.	ENSG00000204393	ENST00000375670;ENST00000375671	.	.	.	2.62	0.357	0.16079	.	.	.	.	.	T	0.28466	0.0704	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25398	-1.0133	7	0.87932	D	0	.	4.9112	0.13823	0.2544:0.5933:0.0:0.1523	.	130	Q5W150	YT011_HUMAN	V	130	.	ENSP00000364822:A130V	A	+	2	0	RP11-410N8.4	30660131	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.036000	0.12185	-0.195000	0.10382	-1.579000	0.00862	GCA	.		0.552	RP11-410N8.4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078639.1		
BPIFB4	149954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	31671498	31671498	+	Silent	SNP	G	G	A			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						.						32.0	35.0	34.0					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		153	0		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	
CEP250	11190	broad.mit.edu;bcgsc.ca	37	20	34092645	34092645	+	Missense_Mutation	SNP	C	C	T	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	56.0	60.0	58.0		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	179	2		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	
DLGAP4	22839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	35060497	35060497	+	Missense_Mutation	SNP	G	G	A	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_ENST00000339266.5_Missense_Mutation_p.R126H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R126H|DLGAP4_ENST00000373913.3_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	65.0	67.0	66.0		377	5.5	1.0	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	98	0		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	
PPP1R16B	26051	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	37546897	37546897	+	Missense_Mutation	SNP	C	C	T			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						.						156.0	151.0	153.0					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	171	0		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	
PLCG1	5335	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	39795024	39795024	+	Missense_Mutation	SNP	G	G	A			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						.						58.0	57.0	57.0					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	186	1		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	
JPH2	57158	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	42815069	42815069	+	Missense_Mutation	SNP	G	G	A			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						.						141.0	109.0	120.0					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	138	0		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		
TTPAL	79183	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	43118014	43118014	+	Silent	SNP	C	C	T	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_ENST00000372906.2_3'UTR|TTPAL_ENST00000262605.4_Silent_p.N287N	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	0.0	5008	,	,		18640	0.001		0.0	False		,,,				2504	0.0				p.N287N		.											.	TTPAL-153	0			c.C861T						.						77.0	72.0	74.0					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		214	0		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	
PABPC1L	80336	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	43559220	43559220	+	Silent	SNP	C	C	T			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_ENST00000490798.1_3'UTR|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000372824.1_5'Flank|PABPC1L_ENST00000372819.1_5'Flank|PABPC1L_ENST00000255136.3_Silent_p.Y364Y|PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000217075.2_5'Flank			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						.						187.0	179.0	181.0					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		148	1		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		
DNTTIP1	116092	hgsc.bcm.edu	37	20	44420682	44420682	+	Silent	SNP	T	T	C	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_ENST00000372632.2_5'Flank|WFDC3_ENST00000372630.2_5'Flank|WFDC3_ENST00000481847.1_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	4.0	6.0	5.0		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		0	0		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	
ELMO2	63916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	45023110	45023110	+	Silent	SNP	C	C	T			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_ENST00000372176.1_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000352077.2_Silent_p.P4P|ELMO2_ENST00000439931.2_Silent_p.P4P	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						.						118.0	92.0	101.0					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		250	0		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	
OCSTAMP	128506	broad.mit.edu;mdanderson.org	37	20	45170427	45170427	+	Missense_Mutation	SNP	C	C	T			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.chr20:45170427C>T	ENST00000279028.2	-	3	1200	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H		NM_080721.1	NP_542452.1	Q9BR26	OCSTP_HUMAN	osteoclast stimulatory transmembrane protein	396					cellular response to estrogen stimulus (GO:0071391)|cellular response to tumor necrosis factor (GO:0071356)|multinuclear osteoclast differentiation (GO:0072674)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of osteoclast proliferation (GO:0090290)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)	2						TGCGCGGGGACGCCGGGCGGG	0.746																																					p.R396H		.											.	.	0			c.G1187A						.						5.0	6.0	6.0					20																	45170427		681	1577	2258	SO:0001583	missense	128506	exon3			CGGGGACGCCGGG	AL034424	CCDS54468.1	20q13.12	2012-03-27	2012-03-27	2012-03-27	ENSG00000149635	ENSG00000149635			16116	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 123"""	C20orf123		18064667	Standard	NM_080721		Approved	dJ257E24.3	uc010zxu.2	Q9BR26	OTTHUMG00000032652	ENST00000279028.2:c.1187G>A	20.37:g.45170427C>T	ENSP00000279028:p.Arg396His	13	0		31	12	NM_080721	0	0	0	0	0		Missense_Mutation	SNP	ENST00000279028.2	37	CCDS54468.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639924	0.47153	.	.	ENSG00000149635	ENST00000279028	T	0.30714	1.52	4.95	-6.3	0.02007	Dendritic cell-specific transmembrane protein-like (1);	0.506859	0.19553	N	0.111521	T	0.15046	0.0363	L	0.27053	0.805	0.09310	N	1	B	0.26081	0.141	B	0.20184	0.028	T	0.10474	-1.0628	10	0.31617	T	0.26	-3.3115	10.0333	0.42114	0.0:0.1704:0.5361:0.2935	.	396	Q9BR26	CT123_HUMAN	H	396	ENSP00000279028:R396H	ENSP00000279028:R396H	R	-	2	0	C20orf123	44603834	0.000000	0.05858	0.002000	0.10522	0.308000	0.27856	0.257000	0.18369	-0.936000	0.03723	0.655000	0.94253	CGT	.		0.746	OCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079573.2	XM_496476	
SULF2	55959	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	46293982	46293982	+	Missense_Mutation	SNP	T	T	G			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_ENST00000484875.1_Missense_Mutation_p.K653T|SULF2_ENST00000361612.4_Missense_Mutation_p.K653T|SULF2_ENST00000467815.1_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						.						268.0	253.0	258.0					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	94	1		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	
SPATA2	9825	broad.mit.edu	37	20	48524772	48524772	+	Missense_Mutation	SNP	G	G	A			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						.						86.0	81.0	82.0					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	164	0		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	
BMP7	655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	55777574	55777574	+	Silent	SNP	C	C	T	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_ENST00000395864.3_Silent_p.P239P|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Silent_p.P239P	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	0.0	5008	,	,		16300	0.001		0.0	False		,,,				2504	0.0				p.P239P		.											.	BMP7-187	0			c.G717A						.	T		2,4404	4.2+/-10.8	0,2,2201	50.0	45.0	47.0		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		84	0		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		
RAE1	8480	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	55931510	55931510	+	Silent	SNP	C	C	T			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_ENST00000395840.2_Silent_p.C68C|RAE1_ENST00000371242.2_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						.						133.0	117.0	122.0					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		93	0		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		
CDH4	1002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	60499460	60499460	+	Missense_Mutation	SNP	C	C	T	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	115.0	89.0	98.0		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	208	0		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	
CDH4	1002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	60509119	60509119	+	Silent	SNP	C	C	T	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	0.0	5008	,	,		15024	0.0		0.0	False		,,,				2504	0.001				p.Y795Y		.											.	CDH4-282	0			c.C2385T						.						30.0	37.0	35.0					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		78	0		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	
LAMA5	3911	broad.mit.edu	37	20	60895706	60895706	+	Missense_Mutation	SNP	A	A	C			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.chr20:60895706A>C	ENST00000252999.3	-	50	6734	c.6668T>G	c.(6667-6669)cTg>cGg	p.L2223R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2223	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)	p.L2223R(1)		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)			GCGGGGGCCCAGGGGGCTCCG	0.706																																					p.L2223R		.											.	LAMA5-93	1	Substitution - Missense(1)	kidney(1)	c.T6668G						.																																			SO:0001583	missense	3911	exon50			GGGCCCAGGGGGC	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.6668T>G	20.37:g.60895706A>C	ENSP00000252999:p.Leu2223Arg	21	1		98	19	NM_005560	0	0	11	12	1	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	1.825	-0.471240	0.04445	.	.	ENSG00000130702	ENST00000252999	T	0.10860	2.83	4.01	-3.35	0.04928	Laminin I (1);	1.233460	0.05846	U	0.620293	T	0.06781	0.0173	L	0.29908	0.895	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.43278	-0.9401	10	0.13470	T	0.59	.	6.2822	0.21013	0.5127:0.1317:0.3557:0.0	.	2223	O15230	LAMA5_HUMAN	R	2223	ENSP00000252999:L2223R	ENSP00000252999:L2223R	L	-	2	0	LAMA5	60329101	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-2.320000	0.01119	-0.781000	0.04548	-0.402000	0.06365	CTG	.		0.706	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
OGFR	11054	broad.mit.edu	37	20	61443813	61443813	+	Silent	SNP	C	C	T			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						.						9.0	9.0	9.0					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		45	1		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		
OGFR	11054	hgsc.bcm.edu	37	20	61444633	61444633	+	Missense_Mutation	SNP	G	G	A	rs75570150		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.chr20:61444633G>A	ENST00000290291.6	+	7	1691	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	OGFR_ENST00000370461.1_Missense_Mutation_p.E504K	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	556	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)	p.E556K(1)		endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CGAGCCAGCCGAGAGCCCATC	0.756																																					p.E556K		.											.	OGFR-68	1	Substitution - Missense(1)	skin(1)	c.G1666A						.						6.0	11.0	9.0					20																	61444633		1936	3778	5714	SO:0001583	missense	11054	exon7			CCAGCCGAGAGCC	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.1666G>A	20.37:g.61444633G>A	ENSP00000290291:p.Glu556Lys	3	0		45	8	NM_007346	0	0	274	275	1	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	A	2.693	-0.272793	0.05716	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.52983	0.64;0.64	0.773	-1.55	0.08558	.	.	.	.	.	T	0.25195	0.0612	N	0.14661	0.345	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.04013	0.0;0.001;0.0	T	0.12785	-1.0534	9	0.34782	T	0.22	.	5.1465	0.14987	0.4456:0.0:0.5544:0.0	.	556;539;556	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	K	556;536;391;504	ENSP00000290291:E556K;ENSP00000359491:E504K	ENSP00000290291:E556K	E	+	1	0	OGFR	60915078	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.269000	0.00532	-0.808000	0.04387	-1.125000	0.01998	GAG	.		0.756	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1		
OGFR	11054	hgsc.bcm.edu	37	20	61444637	61444637	+	Missense_Mutation	SNP	G	G	C	rs78981100		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.chr20:61444637G>C	ENST00000290291.6	+	7	1695	c.1670G>C	c.(1669-1671)aGc>aCc	p.S557T	OGFR_ENST00000370461.1_Missense_Mutation_p.S505T	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	557	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)	p.S557T(3)		endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CCAGCCGAGAGCCCATCGGAG	0.746																																					p.S557T		.											.	OGFR-68	3	Substitution - Missense(3)	upper_aerodigestive_tract(1)|prostate(1)|skin(1)	c.G1670C						.						5.0	10.0	8.0					20																	61444637		1884	3696	5580	SO:0001583	missense	11054	exon7			CCGAGAGCCCATC	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.1670G>C	20.37:g.61444637G>C	ENSP00000290291:p.Ser557Thr	3	0		45	8	NM_007346	0	0	292	292	0	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	7.631	0.678796	0.14841	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.40225	1.04;1.04	0.773	0.773	0.18516	.	.	.	.	.	T	0.20373	0.0490	N	0.24115	0.695	0.09310	N	1	P;B;P	0.45594	0.862;0.386;0.862	B;B;B	0.38655	0.278;0.099;0.278	T	0.08868	-1.0701	9	0.09338	T	0.73	3.6159	4.5226	0.11966	0.2481:0.0:0.7519:0.0	.	557;540;557	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	T	557;537;392;505	ENSP00000290291:S557T;ENSP00000359491:S505T	ENSP00000290291:S557T	S	+	2	0	OGFR	60915082	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-1.934000	0.01552	0.687000	0.31509	0.185000	0.17295	AGC	.		0.746	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1		
SRMS	6725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	62172334	62172334	+	Missense_Mutation	SNP	G	G	A			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						.						45.0	51.0	49.0					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	19	0		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	
TNFRSF6B	8771	hgsc.bcm.edu;broad.mit.edu	37	20	62328346	62328346	+	Missense_Mutation	SNP	C	C	T			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|ARFRP1_ENST00000485858.1_5'Flank|RTEL1_ENST00000318100.4_Missense_Mutation_p.A1378V	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						.						23.0	25.0	24.0					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	23	0		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		
PWP2	5822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	45548439	45548439	+	Silent	SNP	G	G	A			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						.						52.0	38.0	43.0					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		154	0		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	
COL18A1	80781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	46931077	46931077	+	Missense_Mutation	SNP	C	C	T			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_ENST00000468508.1_5'Flank|COL18A1_ENST00000400337.2_Missense_Mutation_p.P1249L|COL18A1_ENST00000355480.5_Missense_Mutation_p.P1429L|SLC19A1_ENST00000567670.1_Intron			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						.						42.0	44.0	43.0					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	110	0		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		
SLC25A18	83733	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	18070754	18070754	+	Silent	SNP	C	C	T			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						.						224.0	181.0	195.0					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		301	0		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	
RTN4R	65078	ucsc.edu;bcgsc.ca	37	22	20230060	20230060	+	Missense_Mutation	SNP	C	C	T			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						.						80.0	80.0	80.0					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	153	2		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		
AIFM3	150209	broad.mit.edu	37	22	21332292	21332292	+	Missense_Mutation	SNP	A	A	G			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_ENST00000333607.6_Missense_Mutation_p.Q492R|AIFM3_ENST00000399163.2_Missense_Mutation_p.Q492R|AIFM3_ENST00000405089.1_Missense_Mutation_p.Q498R|AIFM3_ENST00000440238.2_Missense_Mutation_p.Q492R|AIFM3_ENST00000335375.5_Missense_Mutation_p.Q480R|AIFM3_ENST00000465606.1_3'UTR	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						.						98.0	65.0	76.0					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	189	1		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	
MYO18B	84700	broad.mit.edu	37	22	26422656	26422656	+	Missense_Mutation	SNP	C	C	T	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						.						24.0	26.0	26.0					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	103	0		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	
SLC5A4	6527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	32614516	32614516	+	Silent	SNP	G	G	A	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						.						95.0	72.0	80.0					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		119	0		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	
TOM1	10043	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	35734781	35734781	+	Splice_Site	SNP	G	G	A			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_ENST00000447733.1_Splice_Site_p.A375A|TOM1_ENST00000425375.1_Splice_Site_p.A363A|TOM1_ENST00000411850.1_Splice_Site_p.A408A|TOM1_ENST00000436462.2_Splice_Site_p.A370A|TOM1_ENST00000382034.5_3'UTR	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						.						19.0	17.0	18.0					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		33	0		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
FOXRED2	80020	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	36900582	36900582	+	Silent	SNP	G	G	T			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_ENST00000397223.4_Silent_p.T253T|FOXRED2_ENST00000216187.6_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						.						55.0	48.0	50.0					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		135	1		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	
TRIOBP	11078	hgsc.bcm.edu	37	22	38122462	38122462	+	Missense_Mutation	SNP	A	A	G	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	4.0	6.0	5.0		3899	3.9	1.0	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	0	0		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		
EIF3L	51386	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	38273801	38273801	+	Missense_Mutation	SNP	C	C	T			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						.						102.0	82.0	89.0					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	279	1		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	
MKL1	57591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	40803553	40803553	+	IGR	SNP	G	G	A	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_ENST00000248929.9_Missense_Mutation_p.R502H|SGSM3_ENST00000454798.2_Missense_Mutation_p.R435H	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						.						36.0	32.0	33.0					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		13	0		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	
EP300	2033	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	41572252	41572254	+	Splice_Site	DEL	TCT	TCT	-			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		98	0		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
TOB2	10766	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	41832698	41832698	+	Missense_Mutation	SNP	G	G	A	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		0.0	False		,,,				2504	0.0				p.R218C		.											.	TOB2-227	0			c.C652T						.	G	CYS/ARG	4,4400		0,4,2198	26.0	21.0	23.0		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	93	1		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	
PKDREJ	10343	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	46653903	46653903	+	Missense_Mutation	SNP	G	G	A			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						.						148.0	143.0	145.0					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	136	2		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	
CELSR1	9620	broad.mit.edu	37	22	46835126	46835126	+	Missense_Mutation	SNP	G	G	A	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	0.0	5008	,	,		17270	0.0		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	104.0	87.0	93.0		4366	2.9	1.0	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	198	1		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	
SBF1	6305	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	50899065	50899065	+	Missense_Mutation	SNP	C	C	T	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_ENST00000380817.3_Missense_Mutation_p.R1015Q|SBF1_ENST00000348911.6_Missense_Mutation_p.R1016Q			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	91.0	99.0	96.0		3044	4.5	1.0	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	167	1		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			
CHL1	10752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	447311	447311	+	Missense_Mutation	SNP	A	A	G			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						.						147.0	139.0	142.0					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	118	0		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	
IL17RE	132014	broad.mit.edu	37	3	9953188	9953190	+	In_Frame_Del	DEL	CTC	CTC	-	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_ENST00000295980.3_In_Frame_Del_p.S380del|IL17RE_ENST00000421412.1_In_Frame_Del_p.S413del|IL17RE_ENST00000454190.2_In_Frame_Del_p.S380del	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	262	0		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	
FANCD2	2177	bcgsc.ca	37	3	10108913	10108913	+	Missense_Mutation	SNP	G	G	T	rs80258959		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.chr3:10108913G>T	ENST00000419585.1	+	26	2567	c.2406G>T	c.(2404-2406)caG>caT	p.Q802H	FANCD2_ENST00000287647.3_Missense_Mutation_p.Q802H|FANCD2_ENST00000383807.1_Missense_Mutation_p.Q802H|FANCD2_ENST00000383806.1_Missense_Mutation_p.Q802H			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	802					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)	p.Q802H(2)		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)		CCTTCTGCCAGGAAACATCAC	0.378			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.Q802H		.	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	FANCD2-229	2	Substitution - Missense(2)	prostate(2)	c.G2406T						.						82.0	72.0	75.0					3																	10108913		2203	4300	6503	SO:0001583	missense	2177	exon26	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	CTGCCAGGAAACA	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.2406G>T	3.37:g.10108913G>T	ENSP00000398754:p.Gln802His	117	1		176	9	NM_001018115	0	0	7	7	0	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373535	0.61624	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.44	1.83	0.25207	.	0.551240	0.20789	N	0.085651	T	0.50240	0.1604	M	0.63428	1.95	0.30837	N	0.736052	P;P	0.50710	0.938;0.938	P;P	0.53988	0.739;0.739	T	0.53229	-0.8468	10	0.54805	T	0.06	.	3.6289	0.08124	0.3156:0.0:0.4962:0.1881	.	802;802	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	H	802	ENSP00000287647:Q802H;ENSP00000373318:Q802H;ENSP00000373317:Q802H;ENSP00000398754:Q802H	ENSP00000287647:Q802H	Q	+	3	2	FANCD2	10083913	0.804000	0.28969	0.409000	0.26459	0.904000	0.53231	1.055000	0.30467	0.519000	0.28406	0.585000	0.79938	CAG	G|0.990;T|0.010		0.378	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
IRAK2	3656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	10219666	10219666	+	Missense_Mutation	SNP	G	G	A			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						.						58.0	54.0	55.0					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	92	0		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		
TMEM40	55287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	12778317	12778317	+	Missense_Mutation	SNP	C	C	T	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_ENST00000435218.2_Missense_Mutation_p.V134I|TMEM40_ENST00000435575.1_Missense_Mutation_p.V88I|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000264728.8_Missense_Mutation_p.V164I	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	0.0	5008	,	,		16875	0.0		0.0	False		,,,				2504	0.001				p.V164I		.											.	TMEM40-90	0			c.G490A						.						163.0	154.0	158.0					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	398	0		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	
EFHB	151651	bcgsc.ca	37	3	19961331	19961331	+	Silent	SNP	T	T	C	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	84.0	94.0	90.0		990	1.3	0.0	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		120	0		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	
NEK10	152110	broad.mit.edu	37	3	27346443	27346443	+	Missense_Mutation	SNP	G	G	A			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						.						44.0	41.0	42.0					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	57	0		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	
CNOT10	25904	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	32774948	32774948	+	Frame_Shift_Del	DEL	A	A	-			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-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000538368.1_Frame_Shift_Del_p.K190fs|CNOT10_ENST00000454516.2_Frame_Shift_Del_p.K478fs|CNOT10_ENST00000331889.6_Frame_Shift_Del_p.K418fs	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						.						79.0	83.0	82.0					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	144	0		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	
LRRFIP2	9209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	37107722	37107722	+	Missense_Mutation	SNP	G	G	A	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_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.T520M|LRRFIP2_ENST00000396428.2_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	0.0	5008	,	,		20730	0.0		0.0	False		,,,				2504	0.0				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	186.0	166.0	173.0		,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	79	0		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	
ITGA9	3680	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	37514857	37514857	+	Missense_Mutation	SNP	G	G	A			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						.						54.0	55.0	54.0					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	184	2		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	
SCN5A	6331	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	38618243	38618243	+	Silent	SNP	G	G	A			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_ENST00000451551.2_Silent_p.S1086S|SCN5A_ENST00000423572.2_Silent_p.S1139S|SCN5A_ENST00000414099.2_Silent_p.S1140S|SCN5A_ENST00000455624.2_Silent_p.S1139S|SCN5A_ENST00000413689.1_Silent_p.S1140S|SCN5A_ENST00000443581.1_Silent_p.S1139S|SCN5A_ENST00000425664.1_Silent_p.S1140S|SCN5A_ENST00000450102.2_Silent_p.S1086S|SCN5A_ENST00000449557.2_Silent_p.S1086S			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						.						46.0	52.0	50.0					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		128	0		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	
CTNNB1	1499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	41266104	41266104	+	Missense_Mutation	SNP	G	G	A	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_ENST00000396183.3_Missense_Mutation_p.G34E|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27E|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34E|CTNNB1_ENST00000396185.3_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						.						93.0	78.0	83.0					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	210	0		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	
ZNF445	353274	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	44488379	44488379	+	Silent	SNP	C	C	T	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						.						83.0	81.0	81.0					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		113	1		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	
ALS2CL	259173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	46718502	46718502	+	Missense_Mutation	SNP	C	C	T	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_ENST00000383742.3_De_novo_Start_InFrame|ALS2CL_ENST00000415953.1_Missense_Mutation_p.V590M	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	0.0	5008	,	,		14431	0.001		0.0	False		,,,				2504	0.0				p.V590M		.											.	ALS2CL-155	0			c.G1768A						.						39.0	49.0	45.0					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	91	0		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	
SCAP	22937	broad.mit.edu	37	3	47461048	47461048	+	Frame_Shift_Del	DEL	G	G	-			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_ENST00000545718.1_Frame_Shift_Del_p.P178fs|SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Frame_Shift_Del_p.P315fs	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						.						58.0	61.0	60.0					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	212	0		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	
NME6	10201	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	48336637	48336637	+	Missense_Mutation	SNP	G	G	A			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_ENST00000426689.2_Missense_Mutation_p.R108C|NME6_ENST00000415053.1_Missense_Mutation_p.R108C|NME6_ENST00000421967.1_Missense_Mutation_p.R116C|NME6_ENST00000426723.1_Intron|NME6_ENST00000415644.1_Intron|NME6_ENST00000435684.1_Silent_p.H94H|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000442597.1_Missense_Mutation_p.R108C|NME6_ENST00000447314.1_Missense_Mutation_p.R63C|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000450160.1_Silent_p.H94H|NME6_ENST00000451657.1_Silent_p.H94H			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						.						89.0	79.0	82.0					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	236	0		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	
CELSR3	1951	broad.mit.edu;bcgsc.ca	37	3	48693263	48693263	+	Silent	SNP	G	G	A			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						.						32.0	33.0	33.0					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		187	1		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	
GMPPB	29925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	49760038	49760038	+	Missense_Mutation	SNP	C	C	A			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	AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Missense_Mutation_p.Q184H|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308388.6_Missense_Mutation_p.Q184H			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						.						97.0	88.0	91.0					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	225	0		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	
RBM6	10180	broad.mit.edu	37	3	50097175	50097175	+	Nonsense_Mutation	SNP	C	C	T			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_ENST00000442092.1_Nonsense_Mutation_p.R220*|RBM6_ENST00000443081.1_Nonsense_Mutation_p.R610*|RBM6_ENST00000422955.1_Nonsense_Mutation_p.R220*|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Nonsense_Mutation_p.R84*	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						.						113.0	107.0	109.0					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*	191	0		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	
SEMA3B	7869	broad.mit.edu	37	3	50310793	50310795	+	RNA	DEL	CTT	CTT	-	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		529	0	968	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	
TLR9	54106	broad.mit.edu	37	3	52257538	52257538	+	Missense_Mutation	SNP	C	C	T			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						.						44.0	38.0	40.0					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	212	0		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		
STAB1	23166	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52550142	52550142	+	Silent	SNP	G	G	A			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						.						32.0	31.0	31.0					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		106	1		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	
STAB1	23166	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52554026	52554026	+	Missense_Mutation	SNP	G	G	C			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						.						49.0	50.0	50.0					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	237	2		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	
PBRM1	55193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	52584594	52584594	+	Silent	SNP	T	T	A			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	PBRM1_ENST00000409114.3_Silent_p.P1543P|PBRM1_ENST00000337303.4_Silent_p.P1473P|PBRM1_ENST00000409767.1_Silent_p.P1488P|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Silent_p.P1500P|RNU6-856P_ENST00000516959.1_RNA|PBRM1_ENST00000356770.4_Silent_p.P1493P|PBRM1_ENST00000394830.3_Silent_p.P1473P|PBRM1_ENST00000409057.1_Silent_p.P1525P			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						.						84.0	87.0	86.0					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		51	0		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	
ITIH1	3697	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	52821065	52821065	+	Missense_Mutation	SNP	G	G	T			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_ENST00000540715.1_Missense_Mutation_p.G471V|ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000542827.1_Missense_Mutation_p.G613V	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						.						91.0	88.0	89.0					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	276	1		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	
ITIH4	3700	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52847474	52847474	+	Missense_Mutation	SNP	G	G	A	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	ITIH4_ENST00000485816.1_Missense_Mutation_p.P924L|ITIH4_ENST00000406595.1_Missense_Mutation_p.P889L|ITIH4_ENST00000346281.5_Missense_Mutation_p.P903L|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	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	0.0008	0.0	5008	,	,		17127	0.0		0.0	False		,,,				2504	0.0				p.P919L		.											.	ITIH4-46	0			c.C2756T						.	G	LEU/PRO,LEU/PRO	5,4401	9.9+/-24.2	0,5,2198	65.0	74.0	71.0		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	179	1		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	
ACTR8	93973	broad.mit.edu;bcgsc.ca	37	3	53911367	53911367	+	Silent	SNP	G	G	A			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_ENST00000482349.1_Silent_p.I75I|ACTR8_ENST00000231909.7_5'Flank	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						.						57.0	61.0	60.0					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		177	0		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	
DNASE1L3	1776	ucsc.edu;bcgsc.ca	37	3	58196552	58196552	+	Missense_Mutation	SNP	C	C	T			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_ENST00000486455.1_Missense_Mutation_p.V28I|DNASE1L3_ENST00000483681.1_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						.						208.0	185.0	192.0					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	275	2		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	
FEZF2	55079	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	62355881	62355881	+	Silent	SNP	G	G	A			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	FEZF2_ENST00000486811.1_Silent_p.C419C|PTPRG-AS1_ENST00000490916.1_RNA|FEZF2_ENST00000475839.1_Silent_p.C419C|PTPRG-AS1_ENST00000495542.1_RNA	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						.						256.0	233.0	240.0					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		367	0		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	
MAGI1	9223	hgsc.bcm.edu;bcgsc.ca	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-	rs139764373		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:65372850_65372851delTC	ENST00000330909.8	-	15	2466_2467	c.2467_2468delGA	c.(2467-2469)gaafs	p.E823fs	MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000402939.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4. {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)		GGAATTGATTTCTCTCTCTCTC	0.401																																					p.823_823del		.											.	MAGI1-661	0			c.2467_2468del						.																																			SO:0001589	frameshift_variant	9223	exon15			TTGATTTCTCTCT	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	ENST00000330909.8:c.2467_2468delGA	3.37:g.65372860_65372861delTC	ENSP00000331157:p.Glu823fs	87	1		147	62	NM_015520	0	0	0	0	0	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	ENST00000330909.8	37	CCDS33781.1																																																																																			.		0.401	MAGI1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349127.2	NM_004742	
LRIG1	26018	hgsc.bcm.edu	37	3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C	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	3.0	4.0	4.0		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	0	0		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	
LRIG1	26018	hgsc.bcm.edu	37	3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C	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	3.0	4.0	4.0		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	0	0		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	
FOXP1	27086	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	71027087	71027087	+	Frame_Shift_Del	DEL	G	G	-	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_ENST00000491238.1_Frame_Shift_Del_p.L416fs|FOXP1_ENST00000498215.1_Frame_Shift_Del_p.L414fs|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.L414fs|FOXP1_ENST00000475937.1_Frame_Shift_Del_p.L414fs|FOXP1_ENST00000484350.1_Frame_Shift_Del_p.L338fs|FOXP1_ENST00000468577.1_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						.						125.0	129.0	128.0					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	72	0		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	
ROBO2	6092	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	77623681	77623681	+	Missense_Mutation	SNP	A	A	G			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						.						107.0	95.0	99.0					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	152	0		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	
GABRR3	200959	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	97744481	97744481	+	RNA	SNP	C	C	T	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	0.0008	0.0	5008	,	,		17079	0.001		0.001	False		,,,				2504	0.0				.		.											.	GABRR3-68	0			.						.	C		1,3675		0,1,1837	167.0	156.0	160.0		168	-4.8	0.0	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		97	0		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		
TFG	10342	bcgsc.ca	37	3	100451359	100451359	+	Silent	SNP	G	G	T			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_ENST00000490574.1_Silent_p.V141V|TFG_ENST00000476228.1_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						.						91.0	91.0	91.0					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		114	0		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	
MYH15	22989	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	108219012	108219012	+	Frame_Shift_Del	DEL	G	G	-			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						.						92.0	94.0	93.0					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	91	0		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	
TMPRSS7	344805	broad.mit.edu	37	3	111766778	111766778	+	Missense_Mutation	SNP	A	A	T			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						.						94.0	96.0	95.0					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	186	2		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	
DRD3	1814	broad.mit.edu	37	3	113890760	113890760	+	Missense_Mutation	SNP	C	C	A	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_ENST00000467632.1_Missense_Mutation_p.R27L|DRD3_ENST00000295881.7_Missense_Mutation_p.R27L|DRD3_ENST00000383673.2_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						.						44.0	39.0	40.0					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	158	0		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	
POPDC2	64091	broad.mit.edu	37	3	119379040	119379040	+	Silent	SNP	A	A	G			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_ENST00000493094.1_Silent_p.I77I|POPDC2_ENST00000468801.1_Silent_p.I77I|POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000538678.1_Silent_p.I77I	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						.						128.0	111.0	117.0					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		238	0		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	
KALRN	8997	broad.mit.edu	37	3	124175505	124175505	+	Missense_Mutation	SNP	C	C	T			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_ENST00000360013.3_Missense_Mutation_p.R1260W|KALRN_ENST00000460856.1_Missense_Mutation_p.R1251W	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						.						94.0	95.0	95.0					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	306	0		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	
CHST13	166012	hgsc.bcm.edu	37	3	126261180	126261180	+	Missense_Mutation	SNP	A	A	G			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						.						8.0	8.0	8.0					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	0	0		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	
PLXNA1	5361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	126726724	126726724	+	Missense_Mutation	SNP	G	G	A	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	80.0	70.0	74.0		2080	1.6	1.0	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	192	0		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	
PLXNA1	5361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	126752807	126752807	+	Missense_Mutation	SNP	C	C	T			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_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1857W	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						.						24.0	25.0	25.0					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	266	0		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	
MRPL3	11222	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	131219274	131219274	+	Splice_Site	SNP	C	C	T			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_ENST00000425847.2_Splice_Site_p.Q150Q|MRPL3_ENST00000506946.1_5'UTR	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						.						146.0	113.0	124.0					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		91	0		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
EPHB1	2047	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	134911554	134911554	+	Silent	SNP	C	C	T			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						.						107.0	108.0	108.0					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		337	1		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	
PRR23B	389151	hgsc.bcm.edu	37	3	138739402	138739402	+	Silent	SNP	G	G	A			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						.						3.0	4.0	3.0					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		0	0		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	
TRIM42	287015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	140407267	140407267	+	Silent	SNP	C	C	T	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						.						89.0	89.0	89.0					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		140	0		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	
ANKUB1	389161	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	149485286	149485286	+	Missense_Mutation	SNP	T	T	G			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.chr3:149485286T>G	ENST00000383050.3	-	5	1619	c.1163A>C	c.(1162-1164)aAa>aCa	p.K388T	ANKUB1_ENST00000446160.1_Missense_Mutation_p.K388T|ANKUB1_ENST00000462519.2_Missense_Mutation_p.K388T			A6NFN9	ANKUB_HUMAN	ankyrin repeat and ubiquitin domain containing 1	388										breast(1)|kidney(1)|lung(1)|skin(1)	4						ATTGACAGGTTTGCTGCTTGC	0.448																																					p.K388T		.											.	.	0			c.A1163C						.						180.0	128.0	144.0					3																	149485286		692	1591	2283	SO:0001583	missense	389161	exon5			ACAGGTTTGCTGC	AK027233		3q25.1	2013-01-11	2011-05-10	2011-05-10	ENSG00000206199	ENSG00000206199		"""Ankyrin repeat domain containing"""	29642	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 16"""	C3orf16			Standard	NM_001144960		Approved		uc003exl.3	A6NFN9	OTTHUMG00000159615	ENST00000383050.3:c.1163A>C	3.37:g.149485286T>G	ENSP00000372522:p.Lys388Thr	131	0		190	14	NM_001144960	0	0	0	0	0	B4E2N8	Missense_Mutation	SNP	ENST00000383050.3	37		.	.	.	.	.	.	.	.	.	.	T	13.83	2.355340	0.41700	.	.	ENSG00000206199	ENST00000446160;ENST00000383050;ENST00000462519	T;T;T	0.27890	1.7;1.64;1.66	5.6	-2.31	0.06765	.	.	.	.	.	T	0.17831	0.0428	N	0.22421	0.69	0.09310	N	1	B;B	0.23735	0.09;0.015	B;B	0.20384	0.029;0.018	T	0.24584	-1.0156	9	0.66056	D	0.02	.	6.7268	0.23361	0.0:0.3453:0.1228:0.5319	.	388;388	A6NFN9;E9PHT4	ANKUB_HUMAN;.	T	388	ENSP00000387907:K388T;ENSP00000372522:K388T;ENSP00000417635:K388T	ENSP00000372522:K388T	K	-	2	0	ANKUB1	150967976	0.002000	0.14202	0.002000	0.10522	0.005000	0.04900	-0.048000	0.11944	-0.403000	0.07622	0.482000	0.46254	AAA	.		0.448	ANKUB1-201	KNOWN	basic	protein_coding	protein_coding		NM_001144960	
GPR87	53836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	151011993	151011993	+	Silent	SNP	C	C	T			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_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_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						.						155.0	157.0	156.0					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		276	1		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		
ARHGEF26	26084	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	153970947	153970947	+	Silent	SNP	C	C	T			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						.						58.0	61.0	60.0					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		349	1	1759	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	
SI	6476	broad.mit.edu	37	3	164712168	164712168	+	Missense_Mutation	SNP	T	T	C			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						.						104.0	109.0	107.0					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	236	0		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	
LRRC34	151827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	169511575	169511575	+	Missense_Mutation	SNP	C	C	T			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_ENST00000522830.1_Missense_Mutation_p.V354M|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000446859.1_Missense_Mutation_p.V415M|LRRC34_ENST00000522526.2_Missense_Mutation_p.V383M|LRRC34_ENST00000524327.1_5'Flank|RP11-362K14.7_ENST00000602913.1_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						.						92.0	88.0	89.0					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	108	0		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	
PRKCI	5584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	169985778	169985778	+	Missense_Mutation	SNP	G	G	A			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						.						63.0	58.0	60.0					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	56	0		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	
FNDC3B	64778	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	172070715	172070715	+	Silent	SNP	T	T	C			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_ENST00000415807.2_Silent_p.P879P|FNDC3B_ENST00000416957.1_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						.						113.0	94.0	101.0					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		133	2		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	
USP13	8975	bcgsc.ca	37	3	179437819	179437819	+	Silent	SNP	T	T	C			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_ENST00000496897.1_Silent_p.H234H|USP13_ENST00000482333.1_3'UTR	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						.						199.0	175.0	183.0					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		70	1		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		
ABCC5	10057	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	183732094	183732094	+	Silent	SNP	C	C	T			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_ENST00000392579.2_Silent_p.T29T|ABCC5_ENST00000265586.6_Silent_p.T29T|ABCC5_ENST00000382494.2_Silent_p.T29T|ABCC5-AS1_ENST00000422946.1_RNA|ABCC5_ENST00000427120.2_Silent_p.T29T|ABCC5_ENST00000446941.2_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						.						138.0	121.0	127.0					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		93	0		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	
ECE2	9718	broad.mit.edu	37	3	183994339	183994339	+	Intron	DEL	C	C	-			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|ECE2_ENST00000359140.4_Intron|EIF2B5_ENST00000444495.1_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						.						16.0	20.0	19.0					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		147	0		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	
EIF4G1	1981	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	184042024	184042025	+	Frame_Shift_Del	DEL	TG	TG	-			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_ENST00000392537.2_Frame_Shift_Del_p.V750fs|EIF4G1_ENST00000434061.2_Frame_Shift_Del_p.V642fs|EIF4G1_ENST00000414031.1_Frame_Shift_Del_p.V797fs|EIF4G1_ENST00000319274.6_Frame_Shift_Del_p.V837fs|EIF4G1_ENST00000352767.3_Frame_Shift_Del_p.V844fs|EIF4G1_ENST00000342981.4_Frame_Shift_Del_p.V838fs|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000435046.2_Frame_Shift_Del_p.V641fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Frame_Shift_Del_p.V674fs|EIF4G1_ENST00000382330.3_Frame_Shift_Del_p.V844fs|EIF4G1_ENST00000411531.1_Frame_Shift_Del_p.V798fs|EIF4G1_ENST00000424196.1_Frame_Shift_Del_p.V844fs|EIF4G1_ENST00000427845.1_Frame_Shift_Del_p.V751fs|EIF4G1_ENST00000350481.5_Frame_Shift_Del_p.V673fs	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	298	0		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																																																																																			.		0.460	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
EPHB3	2049	ucsc.edu;bcgsc.ca	37	3	184290407	184290407	+	Missense_Mutation	SNP	G	G	A	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	68.0	63.0	64.0		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	249	3		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	
EPHB3	2049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	184297350	184297350	+	Silent	SNP	C	C	T			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						.						77.0	72.0	73.0					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		390	0		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	
FETUB	26998	hgsc.bcm.edu;broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			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.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcafs	p.S143fs	FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143					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)		CAACAGTTTCAAAAAAAAAGA	0.418																																					p.S143fs		.											.	FETUB-92	0			c.429delA						.						91.0	87.0	89.0					3																	186362544		2203	4300	6503	SO:0001589	frameshift_variant	26998	exon4			AGTTTCAAAAAAA	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.429delA	3.37:g.186362544delA	ENSP00000265029:p.Ser143fs	49	0		60	29	NM_014375	0	0	0	0	0	B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Del	DEL	ENST00000265029.3	37	CCDS3279.1																																																																																			.		0.418	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375	
LRRC15	131578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	194080702	194080702	+	Silent	SNP	G	G	A	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	0.0014	5008	,	,		19579	0.0		0.0	False		,,,				2504	0.0				p.D363D		.											.	LRRC15-71	0			c.C1089T						.	G	,	0,4406		0,0,2203	63.0	61.0	62.0		1089,1071	-4.5	0.0	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		231	0		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		
APOD	347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	195306326	195306326	+	Missense_Mutation	SNP	T	T	G			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						.						30.0	32.0	31.0					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	56	0		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	
MUC20	200958	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	195453329	195453329	+	Nonsense_Mutation	SNP	C	C	T	rs73203946	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.chr3:195453329C>T	ENST00000447234.2	+	2	1981	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*	MUC20_ENST00000445522.2_Nonsense_Mutation_p.R584*|MUC20_ENST00000320736.6_Nonsense_Mutation_p.R448*|MUC20_ENST00000436408.1_Nonsense_Mutation_p.R619*	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	619	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)		p.R619*(2)|p.R430*(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAACAGCAGCCGAGGGACGAA	0.622																																					p.R448X		.											.	.	3	Substitution - Nonsense(3)	lung(2)|upper_aerodigestive_tract(1)	c.C1342T						.						78.0	89.0	86.0					3																	195453329		2100	4225	6325	SO:0001587	stop_gained	200958	exon3			AGCAGCCGAGGGA	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.1855C>T	3.37:g.195453329C>T	ENSP00000414350:p.Arg619*	575	0		682	162	NM_152673	0	0	32	41	9	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Nonsense_Mutation	SNP	ENST00000447234.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.315824|6.315824	0.97467|0.97467	.|.	.|.	ENSG00000176945|ENSG00000176945	ENST00000423938|ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	.|.	.|.	.|.	4.83|4.83	-0.468|-0.468	0.12146|0.12146	.|.	.|2.446820	.|0.01784	.|N	.|0.031899	T|.	0.07234|.	0.0183|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30297|.	-0.9983|.	3|.	.|0.02654	.|T	.|1	4.3371|4.3371	0.8336|0.8336	0.01135|0.01135	0.3206:0.3364:0.1565:0.1865|0.3206:0.3364:0.1565:0.1865	.|.	.|.	.|.	.|.	L|X	30|430;619;448;619;584	.|.	.|ENSP00000325431:R448X	P|R	+|+	2|1	0|2	MUC20|MUC20	196939000|196939000	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	-0.013000|-0.013000	0.12678|0.12678	0.057000|0.057000	0.16193|0.16193	0.655000|0.655000	0.94253|0.94253	CCG|CGA	C|0.967;A|0.033		0.622	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673	
MUC4	4585	ucsc.edu;bcgsc.ca	37	3	195516022	195516022	+	Missense_Mutation	SNP	G	G	A	rs148722108	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.chr3:195516022G>A	ENST00000463781.3	-	2	2888	c.2429C>T	c.(2428-2430)gCg>gTg	p.A810V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A810V|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	815	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGCCACTCGCCCCGGATGA	0.582													.|||	6	0.00119808	0.0008	0.0	5008	,	,		19600	0.005		0.0	False		,,,				2504	0.0				p.A810V		.											.	MUC4-90	0			c.C2429T						.		VAL/ALA,,	1,4353		0,1,2176	95.0	107.0	103.0		2429,,	-0.2	0.0	3	dbSNP_134	103	0,8540		0,0,4270	no	missense,intron,intron	MUC4	NM_018406.6,NM_004532.5,NM_138297.4	64,,	0,1,6446	AA,AG,GG		0.0,0.023,0.0078	possibly-damaging,,	810/5413,,	195516022	1,12893	2177	4270	6447	SO:0001583	missense	4585	exon2			CCACTCGCCCCGG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2429C>T	3.37:g.195516022G>A	ENSP00000417498:p.Ala810Val	193	2		213	84	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	ENST00000463781.3	37	CCDS54700.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	-	7.699	0.692601	0.15039	2.3E-4	0.0	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.49432	0.78;0.8	2.85	-0.222	0.13122	.	1.571850	0.04015	N	0.298919	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	P;P	0.52316	0.952;0.672	B;B	0.38327	0.271;0.042	T	0.07888	-1.0749	10	0.32370	T	0.25	.	1.5622	0.02597	0.1296:0.2106:0.4442:0.2156	.	810;815	E7ESK3;Q99102	.;MUC4_HUMAN	V	810;810;784	ENSP00000417498:A810V;ENSP00000420243:A810V	ENSP00000376209:A784V	A	-	2	0	MUC4	197000417	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.691000	0.25467	-0.056000	0.13221	0.627000	0.83407	GCG	G|0.999;A|0.001		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	195516579	195516579	+	Silent	SNP	T	T	C			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.chr3:195516579T>C	ENST00000463781.3	-	2	2331	c.1872A>G	c.(1870-1872)acA>acG	p.T624T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T624T|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	629					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)		GAGAGGTGCTTGTGGAATGTA	0.498																																					p.T624T		.											.	MUC4-90	0			c.A1872G						.						428.0	423.0	425.0					3																	195516579		2069	4225	6294	SO:0001819	synonymous_variant	4585	exon2			GGTGCTTGTGGAA	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1872A>G	3.37:g.195516579T>C		246	0		282	117	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	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																			.		0.498	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
LRCH3	84859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	197598289	197598289	+	Nonsense_Mutation	SNP	C	C	T			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_ENST00000334859.4_Nonsense_Mutation_p.R696*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R644*|LRCH3_ENST00000441090.2_Nonsense_Mutation_p.R542*|LRCH3_ENST00000438796.2_Nonsense_Mutation_p.R696*|LRCH3_ENST00000536618.1_Nonsense_Mutation_p.R291*			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						.						297.0	271.0	279.0					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*	249	1		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	
LMLN	89782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	197702954	197702954	+	Nonsense_Mutation	SNP	C	C	T			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_ENST00000332636.5_Nonsense_Mutation_p.R83*|LMLN_ENST00000420910.2_Nonsense_Mutation_p.R135*	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						.						56.0	55.0	55.0					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*	119	0		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	
RGS12	6002	broad.mit.edu	37	4	3432439	3432439	+	Missense_Mutation	SNP	G	G	A			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						.						7.0	10.0	9.0					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	34	0		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	
HGFAC	3083	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	3444827	3444827	+	Missense_Mutation	SNP	C	C	T	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	0.0014	5008	,	,		14413	0.0		0.0	False		,,,				2504	0.0				p.R117C		.											.	HGFAC-514	0			c.C349T						.	C	CYS/ARG	2,4384		0,2,2191	17.0	22.0	21.0		349	2.3	1.0	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	26	0		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		
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs75328065|rs199840382|rs111245977|rs377667898|rs200554408|rs201436152	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.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727																																					p.104_106del		.											.	OTOP1-92	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	c.310_318del						.																																			SO:0001651	inframe_deletion	133060	exon1			CAGCATCCACAGC	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.310_318delCTGCTGTGG	4.37:g.4228274_4228282delCCACAGCAG	ENSP00000296358:p.Leu104_Trp106del	4	0		45	10	NM_177998	0	0	0	0	0	A1L476	In_Frame_Del	DEL	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.727	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
PSAPL1	768239	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	7436430	7436430	+	Silent	SNP	C	C	T			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.chr4:7436430C>T	ENST00000319098.4	-	1	270	c.177G>A	c.(175-177)gcG>gcA	p.A59A	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	59	Saposin A-type 1. {ECO:0000255|PROSITE- ProRule:PRU00414}.		A -> T (in dbSNP:rs56737582).		sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)		p.A59A(1)		lung(4)	4						GCAGAGACTTCGCGGTGGGTT	0.622																																					p.A59A		.											.	PSAPL1-68	1	Substitution - coding silent(1)	endometrium(1)	c.G177A						.						37.0	41.0	40.0					4																	7436430		2050	4198	6248	SO:0001819	synonymous_variant	768239	exon1			AGACTTCGCGGTG	DQ991252	CCDS47009.1	4p16.1	2010-03-12	2010-03-12			ENSG00000178597			33131	protein-coding gene	gene with protein product			"""prosaposin-like 1"""				Standard	NM_001085382		Approved		uc011bwj.2	Q6NUJ1		ENST00000319098.4:c.177G>A	4.37:g.7436430C>T		314	1		179	47	NM_001085382	0	0	3	4	1	A0A184|Q8N7T4	Silent	SNP	ENST00000319098.4	37	CCDS47009.1																																																																																			.		0.622	PSAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358859.1		
FAM184B	27146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	17711136	17711136	+	Silent	SNP	G	G	A			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.chr4:17711136G>A	ENST00000265018.3	-	2	485	c.273C>T	c.(271-273)tgC>tgT	p.C91C		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	91										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						CCTCCTCTGCGCAGCCCTGTT	0.667																																					p.C91C		.											.	FAM184B-23	0			c.C273T						.						10.0	11.0	11.0					4																	17711136		692	1591	2283	SO:0001819	synonymous_variant	27146	exon2			CTCTGCGCAGCCC		CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.273C>T	4.37:g.17711136G>A		91	0		66	50	NM_015688	0	0	0	0	0		Silent	SNP	ENST00000265018.3	37	CCDS47033.1																																																																																			.		0.667	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360137.1	NM_015688	
ARAP2	116984	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	36069850	36069851	+	Frame_Shift_Del	DEL	TT	TT	-			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	56	0		38	34	NM_015230	0	0	0	0	0	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Frame_Shift_Del	DEL	ENST00000303965.4	37	CCDS3441.1																																																																																			.		0.450	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
TMEM165	55858	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	56283354	56283354	+	Silent	SNP	T	T	C			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_ENST00000542052.1_Silent_p.P120P|TMEM165_ENST00000514904.1_3'UTR	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						.						87.0	87.0	87.0					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		100	0		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	
CXCL9	4283	broad.mit.edu	37	4	76924817	76924817	+	Frame_Shift_Del	DEL	T	T	-			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						.						160.0	149.0	153.0					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	24	0		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		
FRAS1	80144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	78987147	78987147	+	Missense_Mutation	SNP	G	G	A			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						.						235.0	217.0	223.0					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	95	0		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		
BMP3	651	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	81967503	81967503	+	Frame_Shift_Del	DEL	A	A	-			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						.						44.0	50.0	48.0					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	108	0		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		
BMP3	651	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	4	81967507	81967507	+	Missense_Mutation	SNP	A	A	T			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						.						44.0	50.0	48.0					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	103	0		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		
METAP1	23173	bcgsc.ca	37	4	99982342	99982342	+	Silent	SNP	T	T	G			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						.						175.0	178.0	177.0					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		180	4		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	
ADH7	131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	100349278	100349278	+	Missense_Mutation	SNP	G	G	A			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_ENST00000476959.1_Missense_Mutation_p.R125C|ADH7_ENST00000482593.1_Missense_Mutation_p.R48C|ADH7_ENST00000437033.2_Missense_Mutation_p.R105C	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						.						146.0	146.0	146.0					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	157	0		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	
DDIT4L	115265	bcgsc.ca	37	4	101108877	101108877	+	Missense_Mutation	SNP	T	T	C	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	RP11-15B17.1_ENST00000515026.1_RNA|RP11-588P8.1_ENST00000515782.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	180					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)		p.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		0.0885	False		,,,				2504	0.1063				p.K180R		.											.	DDIT4L-91	1	Substitution - Missense(1)	pancreas(1)	c.A539G						.						58.0	64.0	62.0					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	146	1		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	
TET2	54790	broad.mit.edu;bcgsc.ca	37	4	106196951	106196951	+	Missense_Mutation	SNP	A	A	G	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_ENST00000513237.1_Missense_Mutation_p.I1783V|TET2_ENST00000380013.4_Missense_Mutation_p.I1762V|TET2_ENST00000545826.1_3'UTR			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	19.0	16.0	17.0		5284	-10.3	0.0	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	83	0		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	
QRFPR	84109	hgsc.bcm.edu;bcgsc.ca	37	4	122301511	122301513	+	In_Frame_Del	DEL	AGA	AGA	-			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	142	1		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	
FBXW7	55294	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	153249473	153249473	+	Silent	SNP	A	A	G			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_ENST00000603841.1_Silent_p.I435I|FBXW7_ENST00000263981.5_Silent_p.I355I|FBXW7_ENST00000296555.5_Silent_p.I317I|FBXW7_ENST00000603548.1_Silent_p.I435I|FBXW7_ENST00000393956.3_Silent_p.I259I	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						.						314.0	267.0	283.0					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		170	2		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		
FAM198B	51313	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	4	159092445	159092445	+	Missense_Mutation	SNP	C	C	G			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_ENST00000505532.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.S28T|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.S28T|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_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						.						40.0	41.0	40.0					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	138	0		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	
SNX25	83891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	186272686	186272686	+	Missense_Mutation	SNP	G	G	A			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_ENST00000512853.1_Intron|SNX25_ENST00000264694.8_Missense_Mutation_p.V633M			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						.						152.0	144.0	147.0					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	98	0		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	
FAT1	2195	broad.mit.edu	37	4	187539571	187539574	+	Frame_Shift_Del	DEL	ATCT	ATCT	-			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	193	0		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	
LRRC14B	389257	hgsc.bcm.edu;broad.mit.edu	37	5	192355	192355	+	Silent	SNP	C	C	A			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						.						10.0	13.0	12.0					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		13	0		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	
DAP	1611	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	10681252	10681252	+	Silent	SNP	C	C	T	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	56.0	48.0	51.0		225	-6.0	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		64	1		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	
IL7R	3575	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	35867541	35867541	+	Frame_Shift_Del	DEL	A	A	-			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.chr5:35867541delA	ENST00000303115.3	+	3	484	c.355delA	c.(355-357)aaafs	p.K120fs	IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000343305.4_Frame_Shift_Del_p.K120fs|IL7R_ENST00000511982.1_Frame_Shift_Del_p.K120fs|IL7R_ENST00000506850.1_Frame_Shift_Del_p.K120fs	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	120					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCTAACCTGCAAAAAAATAGA	0.358			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																														p.K119fs		.		Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	.	IL7R-157	0			c.355delA						.						81.0	82.0	82.0					5																	35867541		2203	4300	6503	SO:0001589	frameshift_variant	3575	exon3			ACCTGCAAAAAAA	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.355delA	5.37:g.35867541delA	ENSP00000306157:p.Lys120fs	37	0		70	20	NM_002185	0	0	0	0	0	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Frame_Shift_Del	DEL	ENST00000303115.3	37	CCDS3911.1																																																																																			.		0.358	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2		
DDX4	54514	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	55056049	55056049	+	Missense_Mutation	SNP	G	G	A			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_ENST00000353507.5_Missense_Mutation_p.R50Q|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000514278.2_Missense_Mutation_p.R50Q|DDX4_ENST00000354991.5_Missense_Mutation_p.R50Q	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						.						183.0	180.0	181.0					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	97	1		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	
DDX4	54514	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	55063742	55063742	+	Missense_Mutation	SNP	G	G	T			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	DDX4_ENST00000511853.1_Missense_Mutation_p.R24L|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000353507.5_Missense_Mutation_p.R123L|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000514278.2_Intron|DDX4_ENST00000354991.5_Missense_Mutation_p.R123L	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						.						83.0	83.0	83.0					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	173	1		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	
ERCC8	1161	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	60224762	60224765	+	Frame_Shift_Del	DEL	TTTA	TTTA	-			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	75	0		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	
BDP1	55814	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	70858262	70858262	+	Frame_Shift_Del	DEL	A	A	-			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						.						80.0	74.0	76.0					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	66	0		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	
NSA2	10412	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	74066537	74066539	+	In_Frame_Del	DEL	AAG	AAG	-	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						-1.0	1.0			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	392	0		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	
PDE8B	8622	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	76709039	76709039	+	Missense_Mutation	SNP	G	G	A			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_ENST00000346042.3_Missense_Mutation_p.A509T|PDE8B_ENST00000340978.3_Missense_Mutation_p.A559T|PDE8B_ENST00000505283.1_Missense_Mutation_p.A71T|PDE8B_ENST00000333194.4_Missense_Mutation_p.A551T|PDE8B_ENST00000342343.4_Missense_Mutation_p.A586T	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						.						206.0	189.0	195.0					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	161	1		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	
NR2F1	7025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	92929487	92929487	+	Missense_Mutation	SNP	G	G	A			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						.						132.0	122.0	126.0					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	332	1		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	
KIAA0825	285600	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	93807171	93807171	+	Splice_Site	DEL	T	T	-			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_ENST00000312498.7_Splice_Site_p.K574fs|KIAA0825_ENST00000427991.2_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						.						97.0	82.0	87.0					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		107	0		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
WDR36	134430	broad.mit.edu	37	5	110428267	110428267	+	Missense_Mutation	SNP	G	G	T			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	WDR36_ENST00000505303.1_Missense_Mutation_p.R38L|CTC-551A13.2_ENST00000507269.3_RNA|WDR36_ENST00000506538.2_Missense_Mutation_p.R94L			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						.						37.0	37.0	37.0					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	59	2		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	
SEMA6A	57556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	115813772	115813772	+	Silent	SNP	C	C	T			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_ENST00000282394.6_Silent_p.A34A|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.A502A|SEMA6A_ENST00000257414.8_Silent_p.A502A	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						.						137.0	133.0	134.0					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		207	0		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	
SEPT8	23176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	132097247	132097247	+	Missense_Mutation	SNP	G	G	A			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_ENST00000378699.2_Missense_Mutation_p.R229C|SEPT8_ENST00000458488.2_Missense_Mutation_p.R289C|SEPT8_ENST00000378701.1_Missense_Mutation_p.R287C|SEPT8_ENST00000296873.7_Missense_Mutation_p.R289C|SEPT8_ENST00000448933.1_Missense_Mutation_p.R229C|SEPT8_ENST00000378721.4_Missense_Mutation_p.R287C|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378706.1_Missense_Mutation_p.R289C	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						.						67.0	74.0	72.0					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	104	0		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	
SOWAHA	134548	hgsc.bcm.edu	37	5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	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	2.0	3.0	3.0		371	-0.3	0.0	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	0	0		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	
FSTL4	23105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	132569152	132569152	+	Silent	SNP	G	G	A	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	0.0	5008	,	,		19168	0.001		0.0	False		,,,				2504	0.0				p.S324S		.											.	FSTL4-91	0			c.C972T						.	A		0,4406		0,0,2203	176.0	156.0	163.0		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		276	1		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	
BRD8	10902	broad.mit.edu;bcgsc.ca	37	5	137502305	137502305	+	Missense_Mutation	SNP	G	G	T			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_ENST00000402931.1_Missense_Mutation_p.P300H|BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000455658.2_Missense_Mutation_p.P259H|BRD8_ENST00000230901.5_Missense_Mutation_p.P373H|BRD8_ENST00000411594.2_Intron	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						.						71.0	66.0	68.0					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	208	1		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	
KDM3B	51780	broad.mit.edu	37	5	137708468	137708468	+	Frame_Shift_Del	DEL	C	C	-			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						.						80.0	76.0	78.0					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	143	0		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	
EGR1	1958	broad.mit.edu	37	5	137803250	137803250	+	Missense_Mutation	SNP	G	G	A			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						.						81.0	82.0	81.0					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	188	0		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	
APBB3	10307	broad.mit.edu;bcgsc.ca	37	5	139939977	139939977	+	Missense_Mutation	SNP	C	C	T	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_ENST00000507279.1_5'Flank|SRA1_ENST00000336283.6_5'Flank|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_ENST00000358580.5_3'UTR|APBB3_ENST00000412920.3_Missense_Mutation_p.R380H	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	0.0008	0.0	5008	,	,		18428	0.0		0.0	False		,,,				2504	0.0				p.R389H		.											.	APBB3-92	0			c.G1166A						.						59.0	53.0	55.0					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	337	0		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	
PCDHA2	56146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140174695	140174695	+	Missense_Mutation	SNP	C	C	T			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	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A49V|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A49V|PCDHA1_ENST00000504120.2_Intron	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						.						44.0	53.0	50.0					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	46	0		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	
PCDHA12	56137	broad.mit.edu;bcgsc.ca	37	5	140256782	140256782	+	Silent	SNP	C	C	T			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	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_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						.						188.0	181.0	183.0					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		57	2		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	
PCDHB10	56126	broad.mit.edu	37	5	140573347	140573347	+	Missense_Mutation	SNP	G	G	A			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						.						85.0	85.0	85.0					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	155	0		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	
PCDHB10	56126	broad.mit.edu	37	5	140574170	140574175	+	In_Frame_Del	DEL	AGGCCG	AGGCCG	-	rs58244182|rs140613424|rs140393827	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.chr5:140574170_140574175delAGGCCG	ENST00000239446.4	+	1	2229_2234	c.2045_2050delAGGCCG	c.(2044-2052)caggccgag>cag	p.AE683del		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	683					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)			GCCCAGGCCCAGGCCGAGGCCGACTT	0.704														2124	0.424121	0.4372	0.4971	5008	,	,		11585	0.5347		0.3658	False		,,,				2504	0.3006				p.682_684del		.											.	PCDHB10-92	0			c.2045_2050del						.			851,2755		246,359,1198						2.2	0.0		dbSNP_129	38	1442,5672		362,718,2477	no	coding	PCDHB10	NM_018930.3		608,1077,3675	A1A1,A1R,RR		20.2699,23.5996,21.3899				2293,8427				SO:0001651	inframe_deletion	56126	exon1			AGGCCCAGGCCGA	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.2045_2050delAGGCCG	5.37:g.140574176_140574181delAGGCCG	ENSP00000239446:p.Ala683_Glu684del	13	0		92	20	NM_018930	0	0	0	0	0	Q96T99	In_Frame_Del	DEL	ENST00000239446.4	37	CCDS4252.1																																																																																			-|0.750;GGCCGA|0.250		0.704	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHGA3	56112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140725147	140725147	+	Missense_Mutation	SNP	C	C	T	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	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	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						.						83.0	93.0	90.0					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	340	0		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	
PCDHGA3	56112	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	140725295	140725295	+	Silent	SNP	C	C	T			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	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	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						.						113.0	124.0	120.0					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		190	0		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	
PCDHGA3	56112	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	140725299	140725299	+	Missense_Mutation	SNP	C	C	T	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	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	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	0.0008	0.0	5008	,	,		16066	0.0		0.001	False		,,,				2504	0.0				p.L567F		.											.	PCDHGA3-68	0			c.C1699T						.	C	,,PHE/LEU,PHE/LEU	0,4406		0,0,2203	110.0	121.0	117.0		,,1699,1699	-0.6	0.0	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	183	0		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	
PCDHGA12	26025	hgsc.bcm.edu	37	5	140812776	140812776	+	Intron	DEL	T	T	-			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.chr5:140812776delT	ENST00000252085.3	+	1	2566				PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCttctttcttttttttttt	0.413																																					p.L817fs		.											.	PCDHGA12-27	0			c.2450delT						.		,,,,,,,,,,,,,,,,,,,,	139,219,3894		0,0,139,2,215,1770	27.0	30.0	29.0		,,,,,,,,,,,,,,,,,,,,	-0.3	0.0	5		30	252,363,7627		2,1,247,1,360,3510	no	codingComplex,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron	PCDHGB4,PCDHGA8,PCDHGA12,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_032094.1,NM_032092.1,NM_032088.1,NM_018927.3,NM_018926.2,NM_018925.2,NM_018924.2,NM_018923.2,NM_018922.2,NM_018921.2,NM_018920.2,NM_018919.2,NM_018918.2,NM_018917.2,NM_018916.3,NM_018915.2,NM_018914.2,NM_018913.2,NM_018912.2,NM_003736.2,NM_003735.2	,,,,,,,,,,,,,,,,,,,,	2,1,386,3,575,5280	A1A1,A1A2,A1R,A2A2,A2R,RR		7.4618,8.4196,7.7877	,,,,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,,,,,,	140812776	391,582,11521	2201	4298	6499	SO:0001627	intron_variant	26025	exon1			TCTTTCTTTTTTT	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.2424+26T>-	5.37:g.140812776delT		51	4		70	34	NM_032094	0	0	0	0	0	O15100|Q6UW70|Q9Y5D7	Frame_Shift_Del	DEL	ENST00000252085.3	37	CCDS4260.1																																																																																			.		0.413	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
CYFIP2	26999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	156746911	156746911	+	Missense_Mutation	SNP	C	C	T			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_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R425W|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R304W|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R500W|CYFIP2_ENST00000347377.6_Missense_Mutation_p.R500W|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R174W|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R500W					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						.						146.0	153.0	151.0					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	197	0		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	
LCP2	3937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	169685169	169685169	+	Splice_Site	SNP	C	C	T			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						.						156.0	154.0	155.0					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		120	0		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
STC2	8614	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	172744904	172744904	+	Silent	SNP	G	G	A	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	81.0	86.0	84.0		855	-4.0	1.0	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		119	0		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	
KIAA1191	57179	hgsc.bcm.edu;bcgsc.ca	37	5	175775319	175775320	+	Frame_Shift_Del	DEL	CT	CT	-			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|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393725.2_Frame_Shift_Del_p.R148fs|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Frame_Shift_Del_p.R167fs	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	117	2		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																																																																																			.		0.490	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444	
RNF44	22838	broad.mit.edu;bcgsc.ca	37	5	175959061	175959061	+	Nonsense_Mutation	SNP	G	G	A	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	0.0	5008	,	,		12248	0.0		0.0	False		,,,				2504	0.001				p.R81X		.											.	RNF44-658	0			c.C241T						.						22.0	31.0	28.0					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*	107	0		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		
PROP1	5626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	177420005	177420005	+	Missense_Mutation	SNP	C	C	T			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						.						148.0	135.0	139.0					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	101	0		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	
ADAMTS2	9509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	178567010	178567010	+	Nonsense_Mutation	SNP	C	C	T			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						.						159.0	167.0	164.0					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*	187	0		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	
RIOK1	83732	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	7393387	7393387	+	Missense_Mutation	SNP	C	C	T			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						.						147.0	130.0	136.0					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	130	1		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	
NEDD9	4739	broad.mit.edu	37	6	11192636	11192636	+	Missense_Mutation	SNP	G	G	A			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	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.S202L	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						.						110.0	99.0	103.0					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	130	0		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	
HIVEP1	3096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	12162023	12162023	+	Missense_Mutation	SNP	G	G	A	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	0.0	5008	,	,		19043	0.0		0.0	False		,,,				2504	0.001				p.R2280H		.											.	HIVEP1-139	0			c.G6839A						.						89.0	92.0	91.0					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	183	0		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	
MYLIP	29116	broad.mit.edu	37	6	16145408	16145408	+	Nonsense_Mutation	SNP	C	C	T			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						.						72.0	74.0	73.0					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*	242	0		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	
ATXN1	6310	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	16306908	16306908	+	Silent	SNP	G	G	A			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						.						54.0	55.0	55.0					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		144	1		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	
ATXN1	6310	hgsc.bcm.edu	37	6	16327924	16327924	+	Missense_Mutation	SNP	C	C	A	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		0.0	False		,,,				2504	0.0				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	20	0		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	
PRL	5617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	22294740	22294740	+	Silent	SNP	G	G	T			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						.						43.0	41.0	42.0					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		314	0		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	
HFE	3077	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	26093089	26093089	+	Missense_Mutation	SNP	C	C	A			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_ENST00000352392.4_Intron|HFE_ENST00000349999.4_Missense_Mutation_p.Q177K|HFE_ENST00000336625.8_Missense_Mutation_p.Q159K|HFE_ENST00000461397.1_Missense_Mutation_p.Q251K|HFE_ENST00000309234.6_Missense_Mutation_p.Q265K|HFE_ENST00000488199.1_Missense_Mutation_p.Q163K|HFE_ENST00000397022.3_Missense_Mutation_p.Q242K|HFE_ENST00000470149.1_Missense_Mutation_p.Q262K|HFE_ENST00000317896.7_Missense_Mutation_p.Q173K|HFE_ENST00000353147.5_Missense_Mutation_p.Q85K	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						.						110.0	108.0	109.0					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	439	2		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		
BTN2A2	10385	hgsc.bcm.edu;bcgsc.ca	37	6	26384116	26384118	+	In_Frame_Del	DEL	CTT	CTT	-			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_ENST00000432533.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000352867.2_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	169	1		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		
BAG6	7917	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	31615616	31615617	+	Frame_Shift_Del	DEL	GA	GA	-	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_ENST00000375976.4_Intron|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000362049.6_Intron|BAG6_ENST00000211379.5_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	34	0		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	
VARS	7407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31747038	31747038	+	Silent	SNP	G	G	A			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	VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000375686.3_5'Flank|VWA7_ENST00000375688.4_5'Flank|Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000447450.1_5'Flank|VWA7_ENST00000467576.1_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						.						11.0	14.0	13.0					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		36	0		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	
EHMT2	10919	ucsc.edu;bcgsc.ca	37	6	31860337	31860337	+	Silent	SNP	T	T	C	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_ENST00000375528.4_Silent_p.S294S|EHMT2_ENST00000375530.4_Silent_p.S237S|EHMT2_ENST00000395728.3_Silent_p.S294S|EHMT2_ENST00000480912.1_5'UTR	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	40.0	43.0	42.0		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		95	1		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	
TNXB	7148	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	32037421	32037421	+	Silent	SNP	C	C	T			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						.						23.0	28.0	26.0					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		80	0		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	
ZBTB9	221504	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	33423520	33423522	+	In_Frame_Del	DEL	GAG	GAG	-			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	79	0		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	
ITPR3	3710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	33638975	33638975	+	Missense_Mutation	SNP	G	G	A			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						.						76.0	78.0	78.0					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	181	0		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	
BRPF3	27154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	36179103	36179103	+	Nonsense_Mutation	SNP	G	G	T			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_ENST00000443324.2_Intron|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534694.1_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						.						48.0	49.0	49.0					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*	77	0		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	
LRFN2	57497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	40400435	40400435	+	Missense_Mutation	SNP	C	C	T			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						.						65.0	60.0	62.0					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	77	0		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	
UBR2	23304	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	42627467	42627467	+	Missense_Mutation	SNP	G	G	A	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_ENST00000372901.1_Missense_Mutation_p.V1106I|UBR2_ENST00000372883.3_3'UTR	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	0.0	5008	,	,		17162	0.0		0.0	False		,,,				2504	0.0				p.V1106I		.											.	UBR2-94	0			c.G3316A						.	G	ILE/VAL	7,4399	12.9+/-30.5	0,7,2196	96.0	89.0	92.0		3316	4.7	1.0	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	142	0		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	
RRP36	88745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	42992729	42992729	+	Missense_Mutation	SNP	C	C	T			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						.						96.0	80.0	86.0					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	101	0		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	
TTBK1	84630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	43230559	43230559	+	Missense_Mutation	SNP	G	G	A			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						.						17.0	16.0	16.0					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	50	0		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		
ABCC10	89845	broad.mit.edu;bcgsc.ca	37	6	43415084	43415084	+	Missense_Mutation	SNP	G	G	A			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						.						69.0	67.0	68.0					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	91	1		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	
CAPN11	11131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	44144037	44144037	+	Silent	SNP	C	C	A			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						.						80.0	84.0	83.0					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		147	0		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		
TINAG	27283	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	54185431	54185431	+	Missense_Mutation	SNP	G	G	T			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_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Missense_Mutation_p.C133F|TINAG_ENST00000370864.3_Missense_Mutation_p.C119F	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						.						127.0	136.0	133.0					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	47	0		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	
PHF3	23469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	64395054	64395054	+	Silent	SNP	C	C	T			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_ENST00000509330.1_Silent_p.S477S|PHF3_ENST00000393387.1_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						.						45.0	49.0	48.0					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		187	1		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		
COL19A1	1310	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	70873275	70873275	+	Missense_Mutation	SNP	C	C	T			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						.						81.0	71.0	75.0					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	108	0		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		
ARMC2	84071	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	109249377	109249377	+	Silent	SNP	G	G	A			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						.						190.0	171.0	178.0					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		211	0		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	
SESN1	27244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	109308793	109308793	+	Missense_Mutation	SNP	G	G	A			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_ENST00000302071.2_Missense_Mutation_p.A412V|SESN1_ENST00000436639.2_Missense_Mutation_p.A537V	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						.						127.0	117.0	121.0					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	62	0		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	
GPR6	2830	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	110300812	110300812	+	Missense_Mutation	SNP	G	G	A			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						.						84.0	84.0	84.0					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	102	0		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		
TBC1D32	221322	broad.mit.edu;bcgsc.ca	37	6	121655474	121655474	+	Missense_Mutation	SNP	A	A	C			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						.						68.0	67.0	67.0					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	357	1		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	
MED23	9439	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	131944491	131944491	+	Splice_Site	SNP	C	C	A			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_ENST00000368053.4_Splice_Site_p.K132N|MED23_ENST00000539158.1_Splice_Site_p.K132N|MED23_ENST00000354577.4_Splice_Site_p.K132N|MED23_ENST00000403834.3_Splice_Site_p.K132N|MED23_ENST00000540546.1_Splice_Site_p.K132N|MED23_ENST00000368060.3_Splice_Site_p.K132N|MED23_ENST00000368058.1_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						.						63.0	68.0	67.0					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		30	0		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
TCF21	6943	broad.mit.edu;bcgsc.ca	37	6	134210849	134210849	+	Missense_Mutation	SNP	C	C	T			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_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T105I|RP3-323P13.2_ENST00000607573.1_RNA|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						.						77.0	78.0	78.0					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	192	1		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	
NHSL1	57224	broad.mit.edu;bcgsc.ca	37	6	138817392	138817392	+	Missense_Mutation	SNP	G	G	A			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.chr6:138817392G>A	ENST00000427025.2	-	2	947	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	NHSL1_ENST00000343505.5_Missense_Mutation_p.R59C|NHSL1_ENST00000479393.2_5'UTR	NM_020464.1	NP_065197.1	Q5SYE7	NHSL1_HUMAN	NHS-like 1	107										breast(2)|endometrium(4)|kidney(1)	7						TTGGCTTGGCGGTGCAGGTCC	0.527																																					p.R107C		.											.	NHSL1-68	0			c.C319T						.						103.0	103.0	103.0					6																	138817392		692	1591	2283	SO:0001583	missense	57224	exon2			CTTGGCGGTGCAG	AB037778	CCDS47487.1, CCDS55063.1	6q23.3	2009-02-18	2004-10-07	2004-10-07	ENSG00000135540	ENSG00000135540			21021	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 63"""	C6orf63			Standard	NM_001144060		Approved	bA43P8.1, KIAA1357	uc011edp.2	Q5SYE7	OTTHUMG00000016321	ENST00000427025.2:c.319C>T	6.37:g.138817392G>A	ENSP00000394546:p.Arg107Cys	129	0		95	6	NM_020464	0	0	0	0	0	Q3ZCS5|Q5SYE8|Q9P2J0	Missense_Mutation	SNP	ENST00000427025.2	37	CCDS55063.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378259	0.82682	.	.	ENSG00000135540	ENST00000427025;ENST00000343505;ENST00000342260;ENST00000533765	T;T	0.48522	0.81;1.47	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.66744	-0.5846	10	0.87932	D	0	-23.8336	14.2313	0.65895	0.0:0.0:0.7378:0.2622	.	59;59;107	E2QRJ1;Q5SYE7-2;Q5SYE7	.;.;NHSL1_HUMAN	C	107;59;45;60	ENSP00000394546:R107C;ENSP00000344672:R59C	ENSP00000344582:R45C	R	-	1	0	NHSL1	138859085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.201000	0.65163	2.868000	0.98415	0.637000	0.83480	CGC	.		0.527	NHSL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043700.2	XM_050421	
PLAGL1	5325	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	144269185	144269185	+	Missense_Mutation	SNP	C	C	T	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_ENST00000354765.2_Missense_Mutation_p.R30Q|PLAGL1_ENST00000416623.1_Missense_Mutation_p.R30Q|PLAGL1_ENST00000367572.1_Intron|PLAGL1_ENST00000437412.1_Intron|PLAGL1_ENST00000444202.1_Missense_Mutation_p.R30Q|PLAGL1_ENST00000367571.1_Missense_Mutation_p.R30Q|PLAGL1_ENST00000392307.1_Intron|PLAGL1_ENST00000429150.1_Missense_Mutation_p.R30Q|PLAGL1_ENST00000392309.1_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						.						80.0	66.0	70.0					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	310	1		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		
SNX9	51429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	158349722	158349722	+	Missense_Mutation	SNP	C	C	T			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						.						58.0	40.0	46.0					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	80	0		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		
FNDC1	84624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	159660704	159660704	+	Missense_Mutation	SNP	C	C	T			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						.						60.0	94.0	82.0					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	87	0		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	
SLC22A3	6581	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	160864677	160864677	+	Silent	SNP	G	G	A			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						.						114.0	104.0	108.0					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		55	0		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	
PLG	5340	broad.mit.edu;bcgsc.ca	37	6	161139344	161139344	+	Missense_Mutation	SNP	C	C	A			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						.						109.0	100.0	103.0					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	182	0		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	
PRR18	285800	hgsc.bcm.edu	37	6	166720806	166720806	+	Silent	SNP	G	G	C	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	7.0	7.0	7.0		825	2.4	1.0	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		0	0		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	
SMOC2	64094	hgsc.bcm.edu	37	6	168842113	168842113	+	Silent	SNP	T	T	G	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	2.0	3.0	3.0		63,63	-0.4	1.0	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		5	0		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		
CYP2W1	54905	hgsc.bcm.edu	37	7	1027032	1027032	+	Silent	SNP	C	C	G			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						.						11.0	13.0	13.0					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		7	0		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	
USP42	84132	hgsc.bcm.edu	37	7	6193521	6193521	+	Missense_Mutation	SNP	G	G	C	rs61729726	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.chr7:6193521G>C	ENST00000306177.5	+	15	2494	c.2336G>C	c.(2335-2337)cGc>cCc	p.R779P		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	779	Pro-rich.				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)		CCGCCGCCCCGCGATCCCGGC	0.756													C|||	2895	0.578075	0.8638	0.4121	5008	,	,		10724	0.7331		0.3082	False		,,,				2504	0.4274				p.R779P		.											.	USP42-659	0			c.G2336C						.	C	PRO/ARG	2157,1125		751,655,235	4.0	6.0	5.0		2336	2.6	0.0	7	dbSNP_129	5	1843,5693		290,1263,2215	no	missense	USP42	NM_032172.2	103	1041,1918,2450	CC,CG,GG		24.4559,34.2779,36.9754	benign	779/1317	6193521	4000,6818	1641	3768	5409	SO:0001583	missense	84132	exon15			CGCCCCGCGATCC	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.2336G>C	7.37:g.6193521G>C	ENSP00000301962:p.Arg779Pro	0	0		13	6	NM_032172	0	0	1	3	2	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	CCDS47535.1	1188	0.5439560439560439	401	0.8150406504065041	130	0.35911602209944754	440	0.7692307692307693	217	0.2862796833773087	C	10.95	1.494372	0.26774	0.657221	0.244559	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.14266	2.52;2.93	5.46	2.59	0.31030	.	0.841331	0.10600	N	0.655737	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	0.09164	-1.0687	9	0.28530	T	0.3	.	2.8136	0.05448	0.1458:0.5508:0.1414:0.162	rs61729726	779;779	Q9H9J4-2;Q9H9J4	.;UBP42_HUMAN	P	779;625	ENSP00000301962:R779P;ENSP00000408217:R625P	ENSP00000301962:R779P	R	+	2	0	USP42	6160046	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.469000	0.22067	0.265000	0.21872	-0.120000	0.15030	CGC	G|0.456;C|0.544		0.756	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526	
USP42	84132	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	6193968	6193968	+	Missense_Mutation	SNP	C	C	T			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.chr7:6193968C>T	ENST00000306177.5	+	15	2941	c.2783C>T	c.(2782-2784)gCg>gTg	p.A928V		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	928	Pro-rich.				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)		GAGGACGCCGCGGCGCCGAAA	0.716																																					p.A928V		.											.	USP42-659	0			c.C2783T						.						5.0	7.0	7.0					7																	6193968		1828	3904	5732	SO:0001583	missense	84132	exon15			ACGCCGCGGCGCC	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.2783C>T	7.37:g.6193968C>T	ENSP00000301962:p.Ala928Val	34	0		116	73	NM_032172	0	0	1	4	3	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	C	2.573	-0.299098	0.05532	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.43294	0.95;0.95	5.73	2.01	0.26516	.	1.186860	0.05942	N	0.637245	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	B;B;B	0.18863	0.025;0.031;0.018	B;B;B	0.15870	0.004;0.014;0.006	T	0.22695	-1.0209	10	0.27785	T	0.31	.	4.9801	0.14160	0.6661:0.1647:0.1691:0.0	.	824;928;928	A4D2N7;Q9H9J4-2;Q9H9J4	.;.;UBP42_HUMAN	V	928;774	ENSP00000301962:A928V;ENSP00000408217:A774V	ENSP00000301962:A928V	A	+	2	0	USP42	6160493	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.344000	0.07780	0.104000	0.17725	-0.467000	0.05162	GCG	.		0.716	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526	
GRID2IP	392862	broad.mit.edu;bcgsc.ca	37	7	6550278	6550278	+	Missense_Mutation	SNP	C	C	T			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.chr7:6550278C>T	ENST00000457091.2	-	10	1614	c.1615G>A	c.(1615-1617)Gac>Aac	p.D539N	GRID2IP_ENST00000452113.1_Missense_Mutation_p.D348N|GRID2IP_ENST00000435185.1_Missense_Mutation_p.D355N	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	539					long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						GACGTGCCGTCGCCTGCCTGG	0.627																																					p.D539N		.											.	.	0			c.G1615A						.						79.0	94.0	90.0					7																	6550278		692	1591	2283	SO:0001583	missense	392862	exon10			TGCCGTCGCCTGC		CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.1615G>A	7.37:g.6550278C>T	ENSP00000397351:p.Asp539Asn	75	2		81	38	NM_001145118	0	0	0	0	0		Missense_Mutation	SNP	ENST00000457091.2	37	CCDS47537.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242245	0.79912	.	.	ENSG00000215045	ENST00000452113;ENST00000435185;ENST00000457091	T;T;T	0.51817	0.69;0.69;0.69	4.87	4.87	0.63330	.	0.000000	0.64402	U	0.000001	T	0.65439	0.2691	L	0.59436	1.845	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.68659	-0.5350	10	0.87932	D	0	.	15.8949	0.79326	0.0:1.0:0.0:0.0	.	539	A4D2P6	GRD2I_HUMAN	N	348;355;539	ENSP00000397887:D348N;ENSP00000408364:D355N;ENSP00000397351:D539N	ENSP00000408364:D355N	D	-	1	0	GRID2IP	6516803	1.000000	0.71417	0.515000	0.27774	0.485000	0.33311	6.406000	0.73276	2.418000	0.82041	0.462000	0.41574	GAC	.		0.627	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340534.1	XM_294249	
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-	rs372591893	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.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)ggcdel	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					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)	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729														461	0.0920527	0.0098	0.1124	5008	,	,		5525	0.002		0.2664	False		,,,				2504	0.1022				p.165_165del		.											.	SP8-91	2	Deletion - In frame(2)	central_nervous_system(2)	c.493_495del						.		,	50,654		19,12,321					,	0.5	0.3			2	602,1424		217,168,628	no	coding,coding	SP8	NM_198956.2,NM_182700.4	,	236,180,949	A1A1,A1R,RR		29.7137,7.1023,23.8828	,	,		652,2078				SO:0001651	inframe_deletion	221833	exon2			GGAGGAGCCGCCG		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.439_441delGGC	7.37:g.20824950_20824952delGCC	ENSP00000354482:p.Gly147del	18	0		46	10	NM_182700	0	0	0	0	0	Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	37	CCDS5372.1																																																																																			.		0.729	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2		
HOXA3	3200	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	27147667	27147667	+	Frame_Shift_Del	DEL	C	C	-			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	HOXA3_ENST00000317201.2_Frame_Shift_Del_p.G400fs|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	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						.						27.0	31.0	29.0					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	23	0		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		
PRR15	222171	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	29606205	29606205	+	Missense_Mutation	SNP	G	G	A			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						.						7.0	9.0	9.0					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	57	0		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	
NOD1	10392	hgsc.bcm.edu;bcgsc.ca	37	7	30491510	30491510	+	Frame_Shift_Del	DEL	C	C	-			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						.						36.0	43.0	41.0					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	92	1		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		
MYO1G	64005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	45014805	45014805	+	Missense_Mutation	SNP	C	C	T			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						.						227.0	219.0	222.0					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	161	0		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		
TNS3	64759	broad.mit.edu	37	7	47331569	47331569	+	Silent	SNP	C	C	G			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_ENST00000355730.3_Silent_p.L1064L|TNS3_ENST00000311160.9_Silent_p.L1304L			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						.						74.0	75.0	75.0					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		67	0		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	
EGFR	1956	broad.mit.edu;bcgsc.ca	37	7	55273030	55273030	+	Missense_Mutation	SNP	C	C	T			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_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.A1065V	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						.						85.0	78.0	80.0					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	119	0		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	
MLXIPL	51085	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	73008706	73008709	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			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_ENST00000354613.1_Frame_Shift_Del_p.FE758fs|MLXIPL_ENST00000429400.2_Frame_Shift_Del_p.FE760fs|MLXIPL_ENST00000395189.1_Frame_Shift_Del_p.FE686fs|MLXIPL_ENST00000414749.2_Frame_Shift_Del_p.FE777fs|MLXIPL_ENST00000434326.1_Frame_Shift_Del_p.FE685fs	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	61	0		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	
GTF2IRD2B	389524	bcgsc.ca	37	7	74538966	74538966	+	Missense_Mutation	SNP	C	C	T	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	1243	1		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	
DTX2	113878	broad.mit.edu	37	7	76111983	76111983	+	Missense_Mutation	SNP	G	G	A			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_ENST00000430490.2_Missense_Mutation_p.V143M|DTX2_ENST00000307569.8_Missense_Mutation_p.V143M|DTX2_ENST00000446600.1_Missense_Mutation_p.V52M|DTX2_ENST00000413936.2_Missense_Mutation_p.V143M|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						.						49.0	42.0	44.0					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	362	0		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		
CCDC146	57639	broad.mit.edu	37	7	76888378	76888378	+	Frame_Shift_Del	DEL	A	A	-			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	CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	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						.						63.0	58.0	60.0					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	95	0		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	
KIAA1324L	222223	hgsc.bcm.edu;broad.mit.edu	37	7	86556094	86556096	+	In_Frame_Del	DEL	AAG	AAG	-			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_ENST00000444627.1_In_Frame_Del_p.S409del|KIAA1324L_ENST00000416314.1_In_Frame_Del_p.S242del|KIAA1324L_ENST00000297222.6_In_Frame_Del_p.S169del	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	86	0		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	
DBF4	10926	hgsc.bcm.edu	37	7	87514295	87514295	+	Splice_Site	SNP	G	G	A	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	0.0014	5008	,	,		19192	0.0		0.0	False		,,,				2504	0.0				p.R74Q		.											.	DBF4-253	0			c.G221A						.						30.0	32.0	31.0					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		43	0		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
ZNF804B	219578	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	88964603	88964603	+	Missense_Mutation	SNP	A	A	G			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						.						56.0	50.0	52.0					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	215	0		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	
AKAP9	10142	broad.mit.edu	37	7	91659279	91659279	+	Frame_Shift_Del	DEL	A	A	-			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						.						99.0	106.0	104.0					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	106	0		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	
AP4M1	9179	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	99701292	99701292	+	Missense_Mutation	SNP	G	G	A	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	AP4M1_ENST00000421755.1_Missense_Mutation_p.V174I|MCM7_ENST00000354230.3_5'Flank|MCM7_ENST00000303887.5_5'Flank|AP4M1_ENST00000422582.1_Missense_Mutation_p.V46I|MCM7_ENST00000343023.6_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	0.0	5008	,	,		17187	0.001		0.0	False		,,,				2504	0.001				p.V174I	Pancreas(174;1182 2812 29595 49511)	.											.	AP4M1-90	0			c.G520A						.						97.0	115.0	109.0					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	90	0		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	
NYAP1	222950	broad.mit.edu	37	7	100086933	100086933	+	Missense_Mutation	SNP	G	G	T			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_ENST00000423930.1_Missense_Mutation_p.C530F|NYAP1_ENST00000454988.1_Missense_Mutation_p.C473F	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						.						11.0	14.0	13.0					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	22	0		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	
AP1S1	1174	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	100802405	100802405	+	Frame_Shift_Del	DEL	G	G	-	rs571529719		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.chr7:100802405delG	ENST00000337619.5	+	4	475	c.357delG	c.(355-357)atgfs	p.M119fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					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)					AGTTTTTGATGGGGGGGGATG	0.562																																					p.M119fs		.											.	AP1S1-226	0			c.357delG						.						63.0	66.0	65.0					7																	100802405		2008	4168	6176	SO:0001589	frameshift_variant	1174	exon4			TTTGATGGGGGGG	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.357delG	7.37:g.100802405delG	ENSP00000336666:p.Met119fs	133	0		162	76	NM_001283	0	0	0	0	0	B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Del	DEL	ENST00000337619.5	37	CCDS47669.1																																																																																			.		0.562	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283	
PLOD3	8985	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	100853911	100853911	+	Missense_Mutation	SNP	G	G	A	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	91.0	78.0	82.0		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	114	0		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		
PRKRIP1	79706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	102038071	102038071	+	Missense_Mutation	SNP	A	A	G			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_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.K44R|PRKRIP1_ENST00000462601.1_Intron|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.K6R			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						.						113.0	103.0	106.0					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	138	0		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	
ALKBH4	54784	bcgsc.ca	37	7	102098305	102098305	+	Missense_Mutation	SNP	G	G	A			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						.						25.0	26.0	26.0					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	38	1		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	
PSMC2	5701	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	103006564	103006564	+	Frame_Shift_Del	DEL	A	A	-			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	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Frame_Shift_Del_p.T266fs|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Frame_Shift_Del_p.T129fs	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						.						116.0	126.0	122.0					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	52	0		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	
KMT2E	55904	ucsc.edu;bcgsc.ca	37	7	104717504	104717504	+	Missense_Mutation	SNP	A	A	G			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_ENST00000476671.1_Missense_Mutation_p.N288S|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.N288S|KMT2E_ENST00000334877.4_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						.						133.0	124.0	127.0					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	222	3		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		
SRPK2	6733	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	104767476	104767479	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			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	161	0		166	62	NM_182692	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000393651.3	37	CCDS34724.1																																																																																			.		0.480	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691	
BCAP29	55973	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	107253834	107253834	+	Missense_Mutation	SNP	C	C	T			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_ENST00000379119.2_Missense_Mutation_p.S216L|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379121.2_Missense_Mutation_p.S122L|BCAP29_ENST00000465919.1_Missense_Mutation_p.S122L|BCAP29_ENST00000379117.2_Missense_Mutation_p.S216L|BCAP29_ENST00000445771.2_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						.						80.0	80.0	80.0					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	208	1		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	
NRCAM	4897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	107820770	107820770	+	Silent	SNP	C	C	T			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_ENST00000379028.3_Silent_p.P916P|NRCAM_ENST00000379024.4_Silent_p.P897P|NRCAM_ENST00000413765.2_Silent_p.P897P|NRCAM_ENST00000351718.4_Silent_p.P900P|NRCAM_ENST00000379022.4_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						.						99.0	86.0	90.0					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		129	0		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	
WNT16	51384	broad.mit.edu;bcgsc.ca	37	7	120971850	120971850	+	Silent	SNP	C	C	T			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						.						57.0	56.0	56.0					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		175	0		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	
SMO	6608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	128843243	128843243	+	Missense_Mutation	SNP	G	G	A			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						.						15.0	13.0	14.0					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	79	0		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	
TMEM209	84928	broad.mit.edu;bcgsc.ca	37	7	129832631	129832631	+	Silent	SNP	C	C	T	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_ENST00000462753.1_Silent_p.P201P|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Silent_p.P201P	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	92.0	90.0	91.0		606	-11.3	0.0	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		149	0		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	
AKR1D1	6718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	137761290	137761290	+	Missense_Mutation	SNP	G	G	A	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_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Missense_Mutation_p.R9H|AKR1D1_ENST00000432161.1_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	0.0	5008	,	,		19933	0.001		0.0	False		,,,				2504	0.0				p.R9H		.											.	AKR1D1-91	0			c.G26A						.						200.0	158.0	172.0					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	148	0		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	
KDM7A	80853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	139796487	139796487	+	Missense_Mutation	SNP	T	T	A			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	Y_RNA_ENST00000515919.1_RNA|JHDM1D_ENST00000006967.5_Missense_Mutation_p.T748S	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						.						135.0	131.0	132.0					7																	139796487		1978	4163	6141	SO:0001583	missense	80853	exon17			AACACGTGGAATA																												ENST00000397560.2:c.2242A>T	7.37:g.139796487T>A	ENSP00000380692:p.Thr748Ser	155	0		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		
ZYX	7791	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	143087734	143087734	+	Missense_Mutation	SNP	G	G	A			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_ENST00000392910.2_Missense_Mutation_p.V403M|ZYX_ENST00000449423.2_Missense_Mutation_p.V473M	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						.						94.0	71.0	79.0					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	165	0		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	
OR2A14	135941	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	143826996	143826996	+	Missense_Mutation	SNP	G	G	A			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						.						116.0	122.0	120.0					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	187	1		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		
OR2A7	401427	hgsc.bcm.edu;broad.mit.edu	37	7	143955878	143955878	+	Missense_Mutation	SNP	G	G	T			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_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000487102.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000498397.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000478806.1_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						.						47.0	52.0	50.0					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	469	0		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		
NOBOX	135935	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	144096190	144096190	+	Frame_Shift_Del	DEL	G	G	-			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_ENST00000483238.1_Frame_Shift_Del_p.P409fs|NOBOX_ENST00000223140.5_Frame_Shift_Del_p.P324fs	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						.						12.0	13.0	13.0					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	69	0		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	
SSPO	23145	broad.mit.edu	37	7	149474770	149474770	+	RNA	SNP	G	G	A	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	21.0	26.0	24.0		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		37	0		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			
NOS3	4846	hgsc.bcm.edu;mdanderson.org	37	7	150706627	150706627	+	Silent	SNP	G	G	A	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	0.0	5008	,	,		9347	0.0		0.0	False		,,,				2504	0.001				p.A822A		.											.	NOS3-1011	0			c.G2466A						.						5.0	8.0	7.0					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		10	0		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	
ABCF2	10061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	150920935	150920935	+	Splice_Site	SNP	G	G	A	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_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Splice_Site_p.A184V	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	0.0008	0.0	5008	,	,		17793	0.0		0.0	False		,,,				2504	0.0				p.A184V		.											.	ABCF2-90	0			c.C551T						.	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	39.0	37.0	38.0		551,551	4.7	1.0	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		67	0		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
RNF32	140545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	156469120	156469120	+	Missense_Mutation	SNP	G	G	A	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_ENST00000317955.5_Missense_Mutation_p.R287H|RNF32_ENST00000343665.4_Missense_Mutation_p.R263H|RNF32_ENST00000432459.2_Missense_Mutation_p.R287H|RNF32_ENST00000392743.2_Missense_Mutation_p.R287H|RNF32_ENST00000311822.8_3'UTR			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	0.0	5008	,	,		13621	0.0		0.0	False		,,,				2504	0.001				p.R287H		.											.	RNF32-226	0			c.G860A						.						36.0	36.0	36.0					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	57	0		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	
ANGPT2	285	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	6371316	6371316	+	Missense_Mutation	SNP	G	G	A	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	ANGPT2_ENST00000523120.1_Missense_Mutation_p.S360L|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Missense_Mutation_p.S360L|ANGPT2_ENST00000338312.6_Missense_Mutation_p.S309L			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						.						102.0	105.0	104.0					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	86	0		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	
CLDN23	137075	hgsc.bcm.edu	37	8	8560536	8560536	+	Missense_Mutation	SNP	G	G	A	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	5.0	8.0	7.0		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	0	0		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	
PDLIM2	64236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	22447189	22447189	+	Missense_Mutation	SNP	G	G	A			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	PDLIM2_ENST00000265810.4_Missense_Mutation_p.R233Q|PDLIM2_ENST00000339162.7_Missense_Mutation_p.R233Q|PDLIM2_ENST00000397761.2_Missense_Mutation_p.R233Q|AC037459.4_ENST00000430850.2_Missense_Mutation_p.R27Q|PDLIM2_ENST00000409141.1_Missense_Mutation_p.R233Q|PDLIM2_ENST00000308354.7_Missense_Mutation_p.R483Q|PDLIM2_ENST00000409417.1_Missense_Mutation_p.R233Q|PDLIM2_ENST00000448520.1_3'UTR			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						.						19.0	20.0	20.0					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	295	2		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		
CDCA2	157313	bcgsc.ca	37	8	25365209	25365209	+	Silent	SNP	G	G	T			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_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.L994L	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						.						79.0	84.0	82.0					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		76	0		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	
CHRNA2	1135	bcgsc.ca	37	8	27328511	27328511	+	Missense_Mutation	SNP	G	G	A	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	78.0	69.0	72.0		65	-2.5	0.0	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	245	0		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		
UNC5D	137970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	35608159	35608159	+	Silent	SNP	G	G	A	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_ENST00000287272.2_Silent_p.A596A|UNC5D_ENST00000420357.1_Silent_p.A598A|UNC5D_ENST00000416672.1_Silent_p.A670A|UNC5D_ENST00000449677.1_Silent_p.A241A|UNC5D_ENST00000453357.2_Silent_p.A660A	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						.						248.0	208.0	222.0					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		248	0		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		
GPR124	25960	broad.mit.edu;bcgsc.ca	37	8	37702689	37702689	+	IGR	SNP	G	G	A			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_ENST00000520601.1_3'UTR|BRF2_ENST00000220659.6_Silent_p.Y193Y	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						.						76.0	77.0	77.0					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		234	1		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		
BAG4	9530	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	38067995	38067995	+	Frame_Shift_Del	DEL	A	A	-			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						.						28.0	32.0	31.0					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	74	0		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	
WHSC1L1	54904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	38162210	38162210	+	Missense_Mutation	SNP	C	C	T			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_ENST00000527502.1_Missense_Mutation_p.G836R|WHSC1L1_ENST00000433384.2_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						.						117.0	112.0	114.0					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	76	0		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	
HOOK3	84376	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	42823193	42823193	+	Missense_Mutation	SNP	G	G	C			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						.						63.0	66.0	65.0					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	258	0		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	
CHD7	55636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	61743055	61743055	+	Missense_Mutation	SNP	G	G	A	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		0.0	False		,,,				2504	0.0				p.G1233S		.											.	CHD7-141	0			c.G3697A						.	G	SER/GLY	28,3808		0,28,1890	115.0	110.0	112.0		3697	5.5	1.0	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	186	0		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	
BHLHE22	27319	hgsc.bcm.edu	37	8	65493532	65493532	+	Missense_Mutation	SNP	T	T	A	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	4.0	5.0	4.0		185	2.0	1.0	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	0	0		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	
TRIM55	84675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	67049359	67049359	+	Silent	SNP	C	C	T			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_ENST00000276573.7_Silent_p.L179L|TRIM55_ENST00000350034.4_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						.						100.0	84.0	89.0					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		127	0		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	
CA3	761	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	86354416	86354416	+	Missense_Mutation	SNP	C	C	T			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						.						107.0	102.0	104.0					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	91	0		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	
POP1	10940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	99146235	99146235	+	Missense_Mutation	SNP	C	C	T			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						.						176.0	173.0	174.0					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	124	0		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	
UBR5	51366	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	103289349	103289349	+	Frame_Shift_Del	DEL	T	T	-			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.chr8:103289349delT	ENST00000520539.1	-	45	6966	c.6360delA	c.(6358-6360)aaafs	p.K2120fs	UBR5_ENST00000220959.4_Frame_Shift_Del_p.K2120fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.K2114fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2120					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)	p.E2121fs*28(2)		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)			CTTCCCCTTCTTTTTTTTGCC	0.378																																					p.K2120fs	Ovarian(131;96 1741 5634 7352 27489)	.											.	UBR5-761	2	Deletion - Frameshift(2)	breast(1)|kidney(1)	c.6360delA						.						137.0	130.0	132.0					8																	103289349		2203	4300	6503	SO:0001589	frameshift_variant	51366	exon45			CCCTTCTTTTTTT	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.6360delA	8.37:g.103289349delT	ENSP00000429084:p.Lys2120fs	45	0		55	25	NM_015902	0	0	0	0	0	B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Del	DEL	ENST00000520539.1	37	CCDS34933.1																																																																																			.		0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
UBR5	51366	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	8	103297999	103297999	+	Silent	SNP	C	C	T			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						.						46.0	46.0	46.0					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		63	0		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	
ZFPM2	23414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	106813889	106813889	+	Nonsense_Mutation	SNP	C	C	T			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_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.R395*|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.R258*|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.R395*|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	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						.						92.0	94.0	93.0					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*	35	0		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		
TRPS1	7227	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	116616259	116616259	+	Missense_Mutation	SNP	T	T	C	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_ENST00000519674.1_Missense_Mutation_p.Y633C|TRPS1_ENST00000520276.1_Missense_Mutation_p.Y637C|TRPS1_ENST00000519076.1_Missense_Mutation_p.Y387C			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	0.0	5008	,	,		18208	0.0		0.0	False		,,,				2504	0.001				p.Y646C		.											.	TRPS1-229	0			c.A1937G						.						88.0	84.0	85.0					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	168	0		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	
COLEC10	10584	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	120101975	120101975	+	Missense_Mutation	SNP	C	C	T			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						.						128.0	110.0	116.0					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	212	0		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		
MAL2	114569	hgsc.bcm.edu	37	8	120220776	120220776	+	Splice_Site	DEL	G	G	-	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	1.0	1.0	1.0	5008	,	,		6681	1.0		1.0	False		,,,				2504	1.0				.		.											.	.	0			c.64+1G>-						.			1571,11		785,1,5	1.0	1.0	1.0			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		0	0		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
MTBP	27085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	121458716	121458716	+	Silent	SNP	T	T	C			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						.						146.0	147.0	147.0					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		55	0		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	
FER1L6	654463	ucsc.edu;bcgsc.ca	37	8	125015418	125015418	+	Missense_Mutation	SNP	A	A	G			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-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.N511D	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						.						118.0	106.0	109.0					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	343	2		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	
TG	7038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	133913766	133913766	+	Missense_Mutation	SNP	C	C	T	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	0.0	5008	,	,		14997	0.001		0.0	False		,,,				2504	0.0				p.T1201M		.											.	TG-145	0			c.C3602T						.						33.0	36.0	35.0					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	196	0		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	
FAM135B	51059	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	139164439	139164439	+	Missense_Mutation	SNP	C	C	T	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	41.0	45.0	43.0		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	72	1		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	
TRAPPC9	83696	broad.mit.edu;bcgsc.ca	37	8	140898200	140898200	+	Missense_Mutation	SNP	C	C	T			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_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R984H|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.R1091H	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						.						24.0	24.0	24.0					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	472	0		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	
CYP11B1	1584	broad.mit.edu	37	8	143960582	143960582	+	Silent	SNP	G	G	C			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						.						166.0	128.0	141.0					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		197	0		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		
GRINA	2907	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	145066998	145066998	+	Missense_Mutation	SNP	G	G	A	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	105.0	66.0	79.0		1105,1105	4.9	1.0	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	144	1		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	
ZNF251	90987	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	145947714	145947714	+	Missense_Mutation	SNP	C	C	T			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						.						70.0	80.0	77.0					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	97	1		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	
Unknown	0	bcgsc.ca	37	9	14909	14909	+	IGR	SNP	C	C	G			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						.						4.0	6.0	6.0					9																	14909		801	3300	4101	SO:0001628	intergenic_variant	100287171	exon11			GGGCCCCTCACCA																													9.37:g.14909C>G		611	1		457	40	NM_182905	0	0	230	230	0		Missense_Mutation	SNP		37																																																																																				.	0	0.637								
C9orf66	157983	hgsc.bcm.edu	37	9	214719	214719	+	Silent	SNP	C	C	T	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		0.0437	False		,,,				2504	0.0112				p.A226A		.											.	C9orf66-514	0			c.G678A						.	C		12,3136		0,12,1562	3.0	3.0	3.0		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		0	0		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	
SMARCA2	6595	hgsc.bcm.edu	37	9	2039777	2039791	+	In_Frame_Del	DEL	CAGCAGCAGCAGCAG	CAGCAGCAGCAGCAG	-	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_ENST00000491574.1_3'UTR|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000382194.1_In_Frame_Del_p.QQQQQ233del|SMARCA2_ENST00000357248.2_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	89	0		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	
RFX3	5991	broad.mit.edu;bcgsc.ca	37	9	3263055	3263055	+	Silent	SNP	A	A	C			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						.						151.0	128.0	136.0					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		206	0		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	
MPDZ	8777	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	13119542	13119542	+	Missense_Mutation	SNP	C	C	T	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_ENST00000536827.1_Missense_Mutation_p.V1747I|MPDZ_ENST00000541718.1_Missense_Mutation_p.V1780I|MPDZ_ENST00000538841.1_Missense_Mutation_p.V639I|MPDZ_ENST00000541093.1_Missense_Mutation_p.V14I|MPDZ_ENST00000546205.1_Missense_Mutation_p.V1794I|MPDZ_ENST00000381015.4_Missense_Mutation_p.V1780I|MPDZ_ENST00000447879.1_Missense_Mutation_p.V1747I|MPDZ_ENST00000381022.2_Missense_Mutation_p.V1780I	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	161.0	157.0	158.0		5338	6.0	1.0	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	117	1		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	
FOCAD	54914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	20881923	20881923	+	Missense_Mutation	SNP	C	C	T			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						.						86.0	97.0	93.0					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	58	0		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	
MTAP	4507	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	21854738	21854738	+	Missense_Mutation	SNP	C	C	T			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	MTAP_ENST00000380172.4_Missense_Mutation_p.R187C|MTAP_ENST00000580900.1_Missense_Mutation_p.R187C|RP11-145E5.5_ENST00000404796.2_Intron					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						.						77.0	76.0	76.0					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	142	3		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	
TUSC1	286319	hgsc.bcm.edu	37	9	25678122	25678122	+	Silent	SNP	G	G	C	rs72631814	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.chr9:25678122G>C	ENST00000358022.3	-	1	734	c.198C>G	c.(196-198)gcC>gcG	p.A66A		NM_001004125.2	NP_001004125.1	Q2TAM9	TUSC1_HUMAN	tumor suppressor candidate 1	66										kidney(1)	1	all_hematologic(1;0.197)	all_neural(3;5.42e-18)|Glioma(3;5.54e-17)		GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11)		CCGCCAGGTCGGCAAACCGCT	0.776													G|||	885	0.176717	0.1324	0.1772	5008	,	,		7019	0.1151		0.3002	False		,,,				2504	0.1728				p.A66A	Pancreas(19;648 672 25630 30820 31331)	.											.	TUSC1-90	0			c.C198G						.	G		389,3633		24,341,1646	6.0	6.0	6.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	198	0.6	1.0	9	dbSNP_130	6	1826,6086		225,1376,2355	no	coding-synonymous	TUSC1	NM_001004125.2		249,1717,4001	CC,CG,GG		23.0789,9.6718,18.5604		66/213	25678122	2215,9719	2011	3956	5967	SO:0001819	synonymous_variant	286319	exon1			CAGGTCGGCAAAC	AY168647	CCDS34999.1	9p21.2	2014-05-22			ENSG00000198680	ENSG00000198680			31010	protein-coding gene	gene with protein product		610529				15208665	Standard	NM_001004125		Approved	TSG-9	uc003zpx.3	Q2TAM9	OTTHUMG00000159591	ENST00000358022.3:c.198C>G	9.37:g.25678122G>C		0	0		33	16	NM_001004125	0	0	8	12	4	A0PJ78|Q67GI3|Q86SS1|Q8TAH8	Silent	SNP	ENST00000358022.3	37	CCDS34999.1																																																																																			G|0.807;C|0.193		0.776	TUSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356351.1	NM_001004125	
CAAP1	79886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	26842344	26842344	+	Silent	SNP	C	C	T			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						.						90.0	87.0	88.0					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		93	0		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	
SMU1	55234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	33056173	33056173	+	Missense_Mutation	SNP	C	C	T			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						.						95.0	82.0	86.0					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	71	0		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	
KIF24	347240	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	34306345	34306345	+	Missense_Mutation	SNP	G	G	A			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						.						199.0	194.0	196.0					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	86	0		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		
UNC13B	10497	broad.mit.edu	37	9	35399222	35399222	+	Missense_Mutation	SNP	C	C	T			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_ENST00000378496.4_Missense_Mutation_p.R1298C|UNC13B_ENST00000396787.1_Missense_Mutation_p.R1310C	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						.						215.0	185.0	195.0					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	393	1		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	
RUSC2	9853	hgsc.bcm.edu;bcgsc.ca	37	9	35560687	35560688	+	Frame_Shift_Del	DEL	CT	CT	-			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	53	1		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	
CEP78	84131	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	80854984	80854984	+	Missense_Mutation	SNP	G	G	A			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_ENST00000415759.2_Missense_Mutation_p.R100K|CEP78_ENST00000277082.5_Missense_Mutation_p.R100K|CEP78_ENST00000376598.2_Missense_Mutation_p.R100K|CEP78_ENST00000376597.4_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						.						120.0	106.0	110.0					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	91	0		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	
DAPK1	1612	broad.mit.edu;bcgsc.ca	37	9	90321154	90321154	+	Silent	SNP	G	G	A	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_ENST00000358077.5_Silent_p.A1056A|DAPK1_ENST00000491893.1_Silent_p.A990A|DAPK1_ENST00000469640.2_Silent_p.A1081A	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	0.0	5008	,	,		16512	0.0		0.0	False		,,,				2504	0.0				p.A1056A		.											.	DAPK1-359	0			c.G3168A						.	G		1,4113		0,1,2056	29.0	34.0	32.0		3168	2.9	1.0	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		160	0		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	
SPTLC1	10558	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	94794822	94794822	+	Silent	SNP	C	C	T			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						.						162.0	132.0	142.0					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		193	1		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	
PTCH1	5727	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	98231105	98231105	+	Frame_Shift_Del	DEL	G	G	-			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_ENST00000418258.1_Frame_Shift_Del_p.P575fs|PTCH1_ENST00000437951.1_Frame_Shift_Del_p.P660fs|PTCH1_ENST00000430669.2_Frame_Shift_Del_p.P660fs|PTCH1_ENST00000429896.2_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						.						99.0	110.0	106.0					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	176	0		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	
MSANTD3	91283	broad.mit.edu	37	9	103204598	103204598	+	Silent	SNP	G	G	A			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	TMEFF1_ENST00000334943.6_Silent_p.P13P|MSANTD3_ENST00000374885.1_Silent_p.P126P|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.G16R|MSANTD3_ENST00000489377.1_3'UTR	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						.						43.0	46.0	45.0					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		40	0		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	
FRRS1L	23732	broad.mit.edu	37	9	111909469	111909469	+	Splice_Site	SNP	T	T	C			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						.						120.0	110.0	114.0					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		123	0		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
MUSK	4593	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	113562990	113562990	+	Missense_Mutation	SNP	C	C	T			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						.						86.0	84.0	85.0					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	169	1		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			
ASTN2	23245	broad.mit.edu	37	9	119625887	119625887	+	Missense_Mutation	SNP	C	C	T			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_ENST00000373996.3_Missense_Mutation_p.R668Q|ASTN2_ENST00000361209.2_Missense_Mutation_p.R621Q|ASTN2_ENST00000361477.3_5'UTR			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						.						105.0	91.0	96.0					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	138	0		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	
BRINP1	1620	ucsc.edu;bcgsc.ca	37	9	121929614	121929614	+	Silent	SNP	C	C	T			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						.						161.0	150.0	154.0					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		228	3		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	
PSMD5	5711	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	123586958	123586958	+	Missense_Mutation	SNP	C	C	T	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	54.0	57.0	56.0		820	6.2	1.0	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	63	0		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	
DAB2IP	153090	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	124519406	124519406	+	Silent	SNP	C	C	T	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						.						161.0	123.0	136.0					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		330	1		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	
HSPA5	3309	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	127998973	127998973	+	Missense_Mutation	SNP	C	C	A			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						.						106.0	100.0	102.0					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	122	0		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		
TTC16	158248	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	130479967	130479967	+	Silent	SNP	C	C	T			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	TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000423807.1_5'Flank|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						.						68.0	64.0	66.0					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		190	1		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	
FPGS	2356	hgsc.bcm.edu	37	9	130565267	130565267	+	Missense_Mutation	SNP	A	A	G	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_ENST00000373225.3_5'Flank|FPGS_ENST00000460181.1_3'UTR|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	1.0	3.0	2.0		64	1.8	0.0	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	0	0		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		
PRRC2B	84726	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	134340407	134340407	+	Silent	SNP	C	C	A			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						.						50.0	59.0	56.0					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		265	0		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			
COL5A1	1289	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	137623934	137623934	+	Silent	SNP	C	C	T	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	0.0014	5008	,	,		16133	0.0		0.0	False		,,,				2504	0.0				p.G450G		.											.	COL5A1-524	0			c.C1350T						.						112.0	101.0	104.0					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		160	1		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	
COL5A1	1289	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	137716657	137716657	+	Missense_Mutation	SNP	G	G	A	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	37.0	37.0	37.0		4910	4.2	1.0	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	114	1		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	
RNF208	727800	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca|hgsc.bcm.edu;broad.mit.edu	37	9	140115250	140115251	+	Missense_Mutation	DNP	CG	CG	TA			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	21|18	0		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	
EXD3	54932	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	140243597	140243597	+	Missense_Mutation	SNP	G	G	T			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						.						17.0	23.0	21.0					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	56	1		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	
EXD3	54932	broad.mit.edu	37	9	140262422	140262422	+	Missense_Mutation	SNP	G	G	A	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_ENST00000342129.4_De_novo_Start_InFrame|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.T161M	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	0.0	5008	,	,		21168	0.0		0.0	False		,,,				2504	0.001				p.T161M		.											.	EXD3-90	0			c.C482T						.						38.0	39.0	39.0					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	119	0		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	
ARRDC1	92714	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	140508572	140508572	+	Missense_Mutation	SNP	G	G	A			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						.						125.0	117.0	120.0					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	156	0		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	
EHMT1	79813	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	140676778	140676778	+	Nonsense_Mutation	SNP	C	C	T			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_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Nonsense_Mutation_p.Q771*|EHMT1_ENST00000334856.6_Nonsense_Mutation_p.Q740*	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						.						51.0	40.0	44.0					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*	87	0		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	
ASMTL	8623	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	1546767	1546767	+	Missense_Mutation	SNP	C	C	T			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_ENST00000381333.4_Missense_Mutation_p.A237T|ASMTL_ENST00000534940.1_Missense_Mutation_p.A195T|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Missense_Mutation_p.A177T	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						.						51.0	68.0	62.0					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	25	0		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	
PNPLA4	8228	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	7890071	7890071	+	Silent	SNP	G	G	A			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						.						93.0	79.0	83.0					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		263	1		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	
KAL1	3730	broad.mit.edu;bcgsc.ca	37	X	8538724	8538724	+	Missense_Mutation	SNP	G	G	A			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						.						44.0	37.0	40.0					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	321	0		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	
KAL1	3730	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	8553424	8553424	+	Missense_Mutation	SNP	C	C	T			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						.						196.0	137.0	157.0					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	164	2		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	
MAP3K15	389840	broad.mit.edu	37	X	19390842	19390842	+	Missense_Mutation	SNP	C	C	T			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_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A845T	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						.						78.0	68.0	72.0					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	323	0	732	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	
MAGEB1	4112	broad.mit.edu	37	X	30268991	30268991	+	Silent	SNP	G	G	A			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_ENST00000397548.2_Silent_p.E127E|MAGEB1_ENST00000397550.1_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						.						59.0	46.0	50.0					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		189	0		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	
TSPAN7	7102	hgsc.bcm.edu;bcgsc.ca	37	X	38535027	38535027	+	Frame_Shift_Del	DEL	C	C	-			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_ENST00000545599.1_Frame_Shift_Del_p.I144fs|TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.I196fs|TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.I200fs|TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.I187fs|TSPAN7_ENST00000488893.1_3'UTR	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						.						73.0	58.0	63.0					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	206	1		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		
MED14	9282	broad.mit.edu;bcgsc.ca	37	X	40518765	40518765	+	Missense_Mutation	SNP	G	G	A			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						.						201.0	174.0	183.0					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	109	0		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	
USP9X	8239	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	41075161	41075161	+	Missense_Mutation	SNP	G	G	A			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						.						51.0	48.0	49.0					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	143	0		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	
SSX5	6758	ucsc.edu;bcgsc.ca	37	X	48053647	48053647	+	Silent	SNP	G	G	T			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_ENST00000347757.1_Silent_p.T66T|SSX5_ENST00000311798.1_Silent_p.T107T			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						.						130.0	116.0	121.0					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		1273	4		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	
KCND1	3750	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	48826543	48826543	+	Missense_Mutation	SNP	C	C	T			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						.						45.0	29.0	35.0					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	225	1		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	
SHROOM4	57477	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	50350688	50350690	+	In_Frame_Del	DEL	CCT	CCT	-			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	106	0		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	
HEPH	9843	broad.mit.edu;bcgsc.ca	37	X	65486456	65486456	+	Missense_Mutation	SNP	G	G	A			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_ENST00000519389.1_Missense_Mutation_p.R1194Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R1142Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R873Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R1143Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R951Q			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						.						243.0	166.0	192.0					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	327	0		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	
TEX11	56159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	69774510	69774510	+	Missense_Mutation	SNP	T	T	C			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_ENST00000374333.2_Missense_Mutation_p.T761A|TEX11_ENST00000374320.2_Missense_Mutation_p.T451A	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						.						80.0	67.0	71.0					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	246	0		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		
MED12	9968	ucsc.edu;bcgsc.ca	37	X	70356163	70356163	+	Silent	SNP	G	G	A			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						.						50.0	49.0	49.0					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		239	2		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	
CXCR3	2833	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	70836820	70836820	+	Missense_Mutation	SNP	C	C	T			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						.						25.0	27.0	27.0					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	198	0		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		
ZDHHC15	158866	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	74636938	74636938	+	Silent	SNP	G	G	A	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_ENST00000541184.1_Silent_p.N308N|ZDHHC15_ENST00000373361.3_3'UTR	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	0.0043	3775	,	,		15042	0.0		0.0	False		,,,				2504	0.0				p.N317N		.											.	ZDHHC15-132	0			c.C951T						.	A	,	1,3834		0,1,1631,571	283.0	225.0	244.0		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		200	0		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	
ATRX	546	hgsc.bcm.edu	37	X	76938582	76938585	+	Frame_Shift_Del	DEL	TGAT	TGAT	-			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	39	2		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	
ZNF711	7552	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	84510411	84510413	+	In_Frame_Del	DEL	ATC	ATC	-			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_ENST00000360700.4_In_Frame_Del_p.I77del|ZNF711_ENST00000542798.1_5'Flank|ZNF711_ENST00000276123.3_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	396	0		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	
PCDH11X	27328	hgsc.bcm.edu;bcgsc.ca	37	X	91132408	91132408	+	Missense_Mutation	SNP	C	C	T			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_ENST00000361724.1_Missense_Mutation_p.A390V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A390V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A390V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A390V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A390V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A390V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A390V|PCDH11X_ENST00000361655.2_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						.						99.0	86.0	90.0					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	413	2		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	
SRPX2	27286	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	99905848	99905848	+	Missense_Mutation	SNP	C	C	T			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						.						110.0	101.0	104.0					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	118	0		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	
RGAG1	57529	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	109695052	109695052	+	Missense_Mutation	SNP	G	G	C			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						.						195.0	203.0	200.0					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	177	0		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	
SLITRK4	139065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	142717897	142717897	+	Missense_Mutation	SNP	G	G	A			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_ENST00000338017.4_Missense_Mutation_p.P343L|SLITRK4_ENST00000356928.1_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						.						111.0	101.0	104.0					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	272	1		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	
FMR1NB	158521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	147090160	147090160	+	Missense_Mutation	SNP	G	G	T			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						.						216.0	160.0	179.0					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	129	0		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	
AFF2	2334	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	147733548	147733548	+	Frame_Shift_Del	DEL	A	A	-			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_ENST00000370457.5_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370458.1_Frame_Shift_Del_p.K27fs|AFF2_ENST00000342251.3_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						.						178.0	171.0	173.0					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	315	0		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	
MAGEA11	4110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	148797592	148797592	+	Missense_Mutation	SNP	C	C	T			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						.						45.0	43.0	44.0					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	301	0		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	
CD99L2	83692	broad.mit.edu	37	X	149999704	149999704	+	Splice_Site	SNP	G	G	A			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_ENST00000355149.3_Splice_Site_p.R44*|CD99L2_ENST00000466436.1_Splice_Site_p.Q44*|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Splice_Site_p.Q44*|CD99L2_ENST00000320893.6_Splice_Site_p.P44S	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						.						94.0	88.0	90.0					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		47	0		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
ATP2B3	492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	152815531	152815531	+	Missense_Mutation	SNP	G	G	A			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_ENST00000263519.4_Missense_Mutation_p.R537H|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R523H|ATP2B3_ENST00000370186.1_Missense_Mutation_p.R523H|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R523H|ATP2B3_ENST00000359149.3_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						.						45.0	34.0	38.0					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	151	0		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	
GDI1	2664	broad.mit.edu;bcgsc.ca	37	X	153669455	153669455	+	Silent	SNP	C	C	A	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						.						145.0	126.0	133.0					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		125	0		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	
MEN1	4221	hgsc.bcm.edu;broad.mit.edu	37	11	64572092	64572093	+	Frame_Shift_Ins	INS	-	-	G			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.chr11:64572092_64572093insG	ENST00000337652.1	-	10	2064_2065	c.1561_1562insC	c.(1561-1563)cggfs	p.R521fs	MEN1_ENST00000377321.1_Frame_Shift_Ins_p.R481fs|MEN1_ENST00000377326.3_Frame_Shift_Ins_p.R516fs|MEN1_ENST00000394376.1_Frame_Shift_Ins_p.R521fs|MEN1_ENST00000377316.2_Frame_Shift_Ins_p.R461fs|MEN1_ENST00000443283.1_Frame_Shift_Ins_p.R521fs|MAP4K2_ENST00000294066.2_5'Flank|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377313.1_Frame_Shift_Ins_p.R521fs|MEN1_ENST00000315422.4_Frame_Shift_Ins_p.R516fs|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000394374.2_Frame_Shift_Ins_p.R521fs|MEN1_ENST00000312049.6_Frame_Shift_Ins_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						AGGAGGCTTCCGGGGGGGTCCT	0.713			"""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.1562_1563insC	GRCh37	CD972318|CI972640|CM080439	MEN1	D|I|M		.																																			SO:0001589	frameshift_variant	4221	exon10	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	GGCTTCCGGGGGG	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.1562dupC	11.37:g.64572099_64572099dupG	ENSP00000337088:p.Arg521fs	13	0		33	16	NM_130803	0	0	0	0	0	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Frame_Shift_Ins	INS	ENST00000337652.1	37	CCDS8083.1																																																																																			.		0.713	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		
NEUROD4	58158	hgsc.bcm.edu;broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C	rs201995432		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.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)accfs	p.T302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465																																					p.T302fs		.											.	NEUROD4-94	0			c.904_905insC						.																																			SO:0001589	frameshift_variant	58158	exon2			GCTGGTACCCCCC	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.910dupC	12.37:g.55421133_55421133dupC	ENSP00000242994:p.Thr302fs	118	0		161	15	NM_021191	0	0	0	0	0	B2RAC9	Frame_Shift_Ins	INS	ENST00000242994.3	37	CCDS8886.1																																																																																			.		0.465	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1		
ZDHHC17	23390	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	77222254	77222255	+	Frame_Shift_Ins	INS	-	-	T			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	114	0		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	
ZFYVE19	84936	broad.mit.edu;bcgsc.ca	37	15	41106184	41106185	+	Frame_Shift_Ins	INS	-	-	C			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_ENST00000336455.5_Frame_Shift_Ins_p.LP408fs|ZFYVE19_ENST00000564258.1_Frame_Shift_Ins_p.LP243fs|ZFYVE19_ENST00000570108.1_Frame_Shift_Ins_p.LP395fs|ZFYVE19_ENST00000299173.10_Frame_Shift_Ins_p.LP350fs	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	156	0		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	
SIPA1L3	23094	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	38609984	38609985	+	Frame_Shift_Ins	INS	-	-	C			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	86	0		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	
PRR12	57479	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	50098807	50098808	+	Frame_Shift_Ins	INS	-	-	C			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.chr19:50098807_50098808insC	ENST00000418929.2	+	4	1227_1228	c.1215_1216insC	c.(1216-1218)cccfs	p.P406fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GTGCCACCAGGCCCCCCCCACC	0.688																																					p.R405fs		.											.	PRR12-70	0			c.1215_1216insC						.																																			SO:0001589	frameshift_variant	57479	exon4			CACCAGGCCCCCC	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.1223dupC	19.37:g.50098815_50098815dupC	ENSP00000394510:p.Pro406fs	43	0		56	18	NM_020719	0	0	0	0	0	E9PB06|Q8N4J6	Frame_Shift_Ins	INS	ENST00000418929.2	37	CCDS46143.1																																																																																			.		0.688	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719	
ASXL2	55252	hgsc.bcm.edu;bcgsc.ca	37	2	25966872	25966873	+	Frame_Shift_Ins	INS	-	-	G			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.chr2:25966872_25966873insG	ENST00000435504.4	-	13	2626_2627	c.2333_2334insC	c.(2332-2334)ccafs	p.P778fs	ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.P518fs|ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.P750fs|ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.P518fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	778					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)					TTGGAGGCACTGGGGGGGTTTG	0.554																																					p.P778fs		.											.	ASXL2-23	0			c.2334_2335insC						.																																			SO:0001589	frameshift_variant	55252	exon12			AGGCACTGGGGGG			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.2334dupC	2.37:g.25966879_25966879dupG	ENSP00000391447:p.Pro778fs	69	1		60	43	NM_018263	0	0	0	0	0	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Ins	INS	ENST00000435504.4	37																																																																																				.		0.554	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	
TNS1	7145	hgsc.bcm.edu	37	2	218712886	218712887	+	In_Frame_Ins	INS	-	-	GCT	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	35	0		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	
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs374776064|rs587611810|rs71199613	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.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	49	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						GGCAGGGGGCCGGGGCGCAGCA	0.688														1042	0.208067	0.1188	0.2522	5008	,	,		15055	0.1379		0.3231	False		,,,				2504	0.2515				p.P49delinsPSCCAP		.											.	KRTAP10-6-90	0			c.147_148insCAGCTGCTGCGCCCC						.																																			SO:0001652	inframe_insertion	386674	exon1			GGGGGCCGGGGCG	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.146_147insCAGCTGCTGCGCCCC	21.37:g.46012219_46012220insGGGGCGCAGCAGCTG	Exception_encountered	34	0		84	7	NM_198688	0	0	0	0	0		In_Frame_Ins	INS	ENST00000400368.1	37	CCDS42959.1																																																																																			.		0.688	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688	
FRAS1	80144	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	79366741	79366742	+	Frame_Shift_Ins	INS	-	-	A			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	125	0		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		
DAB2	1601	hgsc.bcm.edu;bcgsc.ca	37	5	39390566	39390567	+	Frame_Shift_Ins	INS	-	-	A	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_ENST00000545653.1_Frame_Shift_Ins_p.A148fs|DAB2_ENST00000509337.1_Frame_Shift_Ins_p.A148fs|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000339788.6_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	93	1		122	37	NM_001343	0	0	0	0	0	A6NES5|Q13598|Q9BTY0|Q9UK04	Frame_Shift_Ins	INS	ENST00000320816.6	37	CCDS34149.1																																																																																			.		0.450	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343	
PCDHA13	56136	broad.mit.edu	37	5	140263345	140263346	+	Frame_Shift_Ins	INS	-	-	G	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	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Frame_Shift_Ins_p.R498fs|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_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	96	0		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	
TRIM41	90933	hgsc.bcm.edu;bcgsc.ca	37	5	180651181	180651182	+	In_Frame_Ins	INS	-	-	GGA	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	CTC-338M12.7_ENST00000499096.2_RNA|MIR4638_ENST00000581158.1_RNA|TRIM41_ENST00000351937.5_In_Frame_Ins_p.66_67insE	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	161	0		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	
IQCE	23288	hgsc.bcm.edu;broad.mit.edu	37	7	2641074	2641075	+	Splice_Site	INS	-	-	A			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_ENST00000404984.1_Splice_Site|IQCE_ENST00000438376.2_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		52	0		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
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	-	CTC	rs67569765|rs148686669	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.chr7:72413723_72413724insCTC	ENST00000434423.2	+	11	3191_3192	c.3191_3192insCTC	c.(3190-3195)ttcttc>ttCTCcttc	p.1064_1065FF>FSF	POM121_ENST00000446813.1_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000257622.4_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000395270.1_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000358357.3_In_Frame_Ins_p.799_800FF>FSF			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1064	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663																																					p.F799delinsFS		.											.	POM121-226	0			c.2396_2397insCTC						.																																			SO:0001652	inframe_insertion	9883	exon11			CTGTCTTCTTCGG	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	Exception_encountered	7.37:g.72413723_72413724insCTC	ENSP00000405562:p.Phe1064_Phe1065insSer	119	0		282	9	NM_172020	0	0	0	0	0	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	In_Frame_Ins	INS	ENST00000434423.2	37																																																																																				.		0.663	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1		
ADAM28	10863	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	24167472	24167473	+	Frame_Shift_Ins	INS	-	-	A	rs570442888	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.chr8:24167472_24167473insA	ENST00000265769.4	+	3	326_327	c.216_217insA	c.(217-219)aaafs	p.K73fs	ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Frame_Shift_Ins_p.K73fs|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	73					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	2	0.000399361	0.0	0.0	5008	,	,		18919	0.0		0.0	False		,,,				2504	0.002				p.L72fs	NSCLC(193;488 2149 22258 34798 40734)	.											.	ADAM28-228	1	Insertion - Frameshift(1)	large_intestine(1)	c.216_217insA						.																																			SO:0001589	frameshift_variant	10863	exon3			TTATTTGAAAAAA	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.224dupA	8.37:g.24167480_24167480dupA	ENSP00000265769:p.Lys73fs	151	0		129	92	NM_021777	0	0	0	0	0	B2RMV5|Q9Y339|Q9Y3S0	Frame_Shift_Ins	INS	ENST00000265769.4	37	CCDS34865.1																																																																																			.		0.332	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
KNDC1	85442	hgsc.bcm.edu	37	10	135012429	135012430	+	Missense_Mutation	DNP	TT	TT	AC	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_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	2	0		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	
