#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_dbSNP_AF	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CFAP74	85452	hgsc.bcm.edu	37	1	1905521	1905521	+	IGR	SNP	A	A	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:1905521A>T								TMEM52 (54809 upstream) : C1orf222 (14041 downstream)																							CTCTCTGCAGAGCTGCTCGGC	0.682																																					p.L206H		Atlas-SNP	.											.	KIAA1751	92	.	0			c.T617A						.						28.0	34.0	32.0					1																	1905521		2117	4228	6345	SO:0001628	intergenic_variant	85452	exon7			CTGCAGAGCTGCT																													chr1.hg19:g.1905521A>T		141.0	0.0		93.0	28.0	NM_001080484		Missense_Mutation	SNP		hg19		.	.	.	.	.	.	.	.	.	.	A	14.81	2.647806	0.47258	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.4	2.28	0.28536	.	0.103197	0.39615	N	0.001304	T	0.53302	0.1788	M	0.65975	2.015	0.09310	N	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.30822	-0.9965	9	0.36615	T	0.2	-10.6382	4.5666	0.12189	0.8503:0.0:0.1497:0.0	.	206;206	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	H	206	.	ENSP00000270720:L206H	L	-	2	0	C1orf222	1895381	0.953000	0.32496	0.116000	0.21606	0.002000	0.02628	2.174000	0.42482	1.507000	0.48752	0.383000	0.25322	CTC	.	.	0	0.682								
ID3	3399	hgsc.bcm.edu	37	1	23885468	23885468	+	Silent	SNP	T	T	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:23885468T>G	ENST00000374561.5	-	2	710	c.343A>C	c.(343-345)Agg>Cgg	p.R115R	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	115					central nervous system development (GO:0007417)|epithelial cell differentiation (GO:0030855)|heart development (GO:0007507)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|notochord development (GO:0030903)|odontogenesis (GO:0042476)|positive regulation of apoptotic process (GO:0043065)|regulation of cell cycle (GO:0051726)|regulation of DNA replication (GO:0006275)|response to wounding (GO:0009611)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CAAAAGCTCCTTTTGTCGTTG	0.552																																					p.R115R		Atlas-SNP	.											.	ID3	29	.	0			c.A343C						.						91.0	87.0	88.0					1																	23885468		2203	4300	6503	SO:0001819	synonymous_variant	3399	exon2			AGCTCCTTTTGTC	X69111	CCDS237.1	1p36.13-p36.12	2013-05-21			ENSG00000117318	ENSG00000117318		"""Basic helix-loop-helix proteins"""	5362	protein-coding gene	gene with protein product		600277				1628620	Standard	NM_002167		Approved	HEIR-1, bHLHb25	uc001bhh.4	Q02535	OTTHUMG00000003229	ENST00000374561.5:c.343A>C	chr1.hg19:g.23885468T>G		90.0	0.0		71.0	40.0	NM_002167	A8K1T8|O75641	Silent	SNP	ENST00000374561.5	hg19	CCDS237.1																																																																																			.	.		0.552	ID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008904.1	NM_002167	
PPP1R8	5511	hgsc.bcm.edu	37	1	28167686	28167686	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:28167686G>A	ENST00000311772.5	+	4	491	c.433G>A	c.(433-435)Gga>Aga	p.G145R	PPP1R8_ENST00000236412.7_Intron|PPP1R8_ENST00000373931.4_Missense_Mutation_p.G3R	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	145	Interaction with EED.				cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGATGGGTGGAGAGGATGA	0.507																																					p.G145R		Atlas-SNP	.											.	PPP1R8	17	.	0			c.G433A						.						145.0	129.0	135.0					1																	28167686		2203	4300	6503	SO:0001583	missense	5511	exon4			ATGGGTGGAGAGG	AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9296	protein-coding gene	gene with protein product	"""RNase E"", ""nuclear subunit of PP-1"", ""nuclear inhibitor of protein phosphatase-1"", ""activator of RNA decay"", ""protein phosphatase 1 regulatory subunit 8"""	602636	"""protein phosphatase 1, regulatory (inhibitor) subunit 8"""			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.433G>A	chr1.hg19:g.28167686G>A	ENSP00000311677:p.Gly145Arg	225.0	0.0		145.0	30.0	NM_014110	Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Missense_Mutation	SNP	ENST00000311772.5	hg19	CCDS311.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681565	0.47991	.	.	ENSG00000117751	ENST00000311772;ENST00000373931;ENST00000434313;ENST00000399118;ENST00000431586	T	0.41065	1.01	5.53	5.53	0.82687	.	0.053183	0.85682	D	0.000000	T	0.36853	0.0982	L	0.53249	1.67	0.32902	D	0.513253	B	0.31485	0.325	B	0.30029	0.11	T	0.45279	-0.9272	10	0.15952	T	0.53	-8.4208	13.713	0.62680	0.0737:0.0:0.9263:0.0	.	145	Q12972	PP1R8_HUMAN	R	145;3;145;3;3	ENSP00000311677:G145R	ENSP00000311677:G145R	G	+	1	0	PPP1R8	28040273	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.317000	0.51968	2.605000	0.88082	0.655000	0.94253	GGA	.	.		0.507	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010528.1	NM_014110	
PTGER3	5733	hgsc.bcm.edu	37	1	71513044	71513044	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:71513044C>A	ENST00000306666.5	-	1	427	c.217G>T	c.(217-219)Gtg>Ttg	p.V73L	PTGER3_ENST00000370931.3_Missense_Mutation_p.V73L|PTGER3_ENST00000460330.1_Missense_Mutation_p.V73L|PTGER3_ENST00000356595.4_Missense_Mutation_p.V73L|PTGER3_ENST00000351052.5_Missense_Mutation_p.V73L|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000414819.1_Missense_Mutation_p.V73L|PTGER3_ENST00000370924.4_Missense_Mutation_p.V73L|PTGER3_ENST00000354608.5_Missense_Mutation_p.V73L|PTGER3_ENST00000370932.2_Missense_Mutation_p.V73L	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	73					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CTGCGCGACACGAGCAGCATG	0.657																																					p.V73L		Atlas-SNP	.											.	PTGER3	246	.	0			c.G217T						.						34.0	38.0	36.0					1																	71513044		2202	4300	6502	SO:0001583	missense	5733	exon1			GCGACACGAGCAG	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.217G>T	chr1.hg19:g.71513044C>A	ENSP00000302313:p.Val73Leu	262.0	0.0		253.0	74.0	NM_001126044	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	hg19	CCDS657.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741675	0.49151	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.116319	0.56097	D	0.000023	T	0.21062	0.0507	N	0.04724	-0.175	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.992;0.999;0.999;0.999;0.99;0.995;0.996	D;P;D;D;D;P;D;D	0.71870	0.975;0.903;0.957;0.975;0.975;0.844;0.91;0.946	T	0.03728	-1.1009	10	0.02654	T	1	-32.3497	18.2589	0.90028	0.0:1.0:0.0:0.0	.	73;73;73;73;73;73;73;73	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	L	73	ENSP00000359969:V73L;ENSP00000359970:V73L;ENSP00000280208:V73L;ENSP00000418073:V73L;ENSP00000346624:V73L;ENSP00000349003:V73L;ENSP00000401423:V73L;ENSP00000302313:V73L;ENSP00000359962:V73L	ENSP00000302313:V73L	V	-	1	0	PTGER3	71285632	1.000000	0.71417	0.964000	0.40570	0.935000	0.57460	5.636000	0.67848	2.537000	0.85549	0.462000	0.41574	GTG	.	.		0.657	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957	
NEGR1	257194	hgsc.bcm.edu	37	1	72748049	72748049	+	Silent	SNP	C	C	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:72748049C>A	ENST00000357731.5	-	1	368	c.129G>T	c.(127-129)gcG>gcT	p.A43A	NEGR1_ENST00000434200.1_Silent_p.A41A	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	43	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TGTCCACGGCCGCCCAGGGGA	0.592																																					p.A43A		Atlas-SNP	.											.	NEGR1	60	.	0			c.G129T						.						81.0	82.0	81.0					1																	72748049		2203	4300	6503	SO:0001819	synonymous_variant	257194	exon1			CACGGCCGCCCAG	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.129G>T	chr1.hg19:g.72748049C>A		374.0	0.0		364.0	30.0	NM_173808	Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	hg19	CCDS661.1																																																																																			.	.		0.592	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808	
LPHN2	23266	hgsc.bcm.edu	37	1	82456669	82456669	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:82456669A>G	ENST00000370728.1	+	25	4865	c.4220A>G	c.(4219-4221)tAt>tGt	p.Y1407C	LPHN2_ENST00000271029.4_Missense_Mutation_p.Y1379C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y1422C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y1422C|LPHN2_ENST00000370721.1_Missense_Mutation_p.Y1332C|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y1409C|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y1379C|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y1409C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y1351C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y1364C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y1364C|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y1351C|LPHN2_ENST00000370713.1_3'UTR			O95490	LPHN2_HUMAN	latrophilin 2	1407					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		Gacatttactataaaagcatg	0.473																																					p.Y1351C		Atlas-SNP	.											.	LPHN2	464	.	0			c.A4052G						.						58.0	55.0	56.0					1																	82456669		2203	4300	6503	SO:0001583	missense	23266	exon20			TTTACTATAAAAG	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4220A>G	chr1.hg19:g.82456669A>G	ENSP00000359763:p.Tyr1407Cys	100.0	0.0		110.0	22.0	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.69|12.69	2.015065|2.015065	0.35511|0.35511	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.75050	.|-0.81;-0.83;-0.9;-0.85;-0.76;-0.71;-0.84;-0.84;-0.76;-0.71;-0.85;-0.9	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.067301	.|0.64402	.|D	.|0.000009	T|T	0.77638|0.77638	0.4160|0.4160	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	.|B;D	.|0.89917	.|0.05;1.0	.|B;D	.|0.87578	.|0.037;0.998	T|T	0.81441|0.81441	-0.0931|-0.0931	5|10	.|0.87932	.|D	.|0	.|.	15.909|15.909	0.79456|0.79456	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1351;331	.|O95490-2;B3KVU1	.|.;.	V|C	1299|1332;1407;1364;1379;1422;1409;1351;1351;1422;1409;1379;1364	.|ENSP00000359756:Y1332C;ENSP00000359763:Y1407C;ENSP00000359765:Y1364C;ENSP00000359762:Y1379C;ENSP00000359760:Y1422C;ENSP00000359758:Y1409C;ENSP00000353006:Y1351C;ENSP00000322270:Y1351C;ENSP00000359752:Y1422C;ENSP00000378344:Y1409C;ENSP00000271029:Y1379C;ENSP00000337306:Y1364C	.|ENSP00000271029:Y1379C	I|Y	+|+	1|2	0|0	LPHN2|LPHN2	82229257|82229257	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	8.730000|8.730000	0.91510|0.91510	2.155000|2.155000	0.67459|0.67459	0.459000|0.459000	0.35465|0.35465	ATA|TAT	.	.		0.473	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
ARHGAP29	9411	hgsc.bcm.edu	37	1	94639693	94639693	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:94639693A>C	ENST00000260526.6	-	23	3700	c.3518T>G	c.(3517-3519)aTc>aGc	p.I1173S	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1173					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GATACTGATGATGGGAGCATG	0.532																																					p.I1173S		Atlas-SNP	.											.	ARHGAP29	132	.	0			c.T3518G						.						84.0	72.0	76.0					1																	94639693		2203	4300	6503	SO:0001583	missense	9411	exon23			CTGATGATGGGAG		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3518T>G	chr1.hg19:g.94639693A>C	ENSP00000260526:p.Ile1173Ser	106.0	0.0		90.0	15.0	NM_004815	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	hg19	CCDS748.1	.	.	.	.	.	.	.	.	.	.	A	5.439	0.266072	0.10294	.	.	ENSG00000137962	ENST00000260526	T	0.20200	2.09	5.49	0.999	0.19862	.	1.794900	0.03253	N	0.182068	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.31110	-0.9955	10	0.10636	T	0.68	6.0451	5.5764	0.17225	0.1433:0.104:0.6262:0.1265	.	1173	Q52LW3	RHG29_HUMAN	S	1173	ENSP00000260526:I1173S	ENSP00000260526:I1173S	I	-	2	0	ARHGAP29	94412281	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.861000	0.27885	0.290000	0.22444	-0.220000	0.12472	ATC	.	.		0.532	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	
VAV3	10451	hgsc.bcm.edu	37	1	108322109	108322109	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:108322109T>C	ENST00000370056.4	-	3	601	c.327A>G	c.(325-327)atA>atG	p.I109M	VAV3_ENST00000527011.1_Missense_Mutation_p.I109M|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.I44M	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	109	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATAATGTTTCTATAACCTGAG	0.328																																					p.I109M		Atlas-SNP	.											.	VAV3	176	.	0			c.A327G						.						96.0	91.0	93.0					1																	108322109		2203	4300	6503	SO:0001583	missense	10451	exon3			TGTTTCTATAACC	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.327A>G	chr1.hg19:g.108322109T>C	ENSP00000359073:p.Ile109Met	142.0	0.0		152.0	21.0	NM_006113	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	hg19	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.03|14.03	2.415077|2.415077	0.42817|0.42817	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	T;T;T|.	0.42131|.	0.98;0.98;0.98|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Calponin homology domain (5);|.	0.100929|.	0.64402|.	D|.	0.000003|.	T|.	0.51584|.	0.1683|.	L|L	0.50993|0.50993	1.605|1.605	0.49582|0.49582	D|D	0.999808|0.999808	B;B;B|.	0.32203|.	0.011;0.005;0.36|.	B;B;P|.	0.54856|.	0.209;0.054;0.762|.	T|.	0.52366|.	-0.8585|.	10|.	0.49607|.	T|.	0.09|.	.|.	13.4171|13.4171	0.60974|0.60974	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	109;109;109|.	B7ZLR1;E9PQ97;Q9UKW4|.	.;.;VAV3_HUMAN|.	M|W	109;109;44|104	ENSP00000359073:I109M;ENSP00000432540:I109M;ENSP00000360912:I44M|.	ENSP00000359073:I109M|.	I|X	-|-	3|2	3|0	VAV3|VAV3	108123632|108123632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.878000|2.878000	0.48515|0.48515	2.137000|2.137000	0.66172|0.66172	0.528000|0.528000	0.53228|0.53228	ATA|TAG	.	.		0.328	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	
MOV10	4343	hgsc.bcm.edu	37	1	113237434	113237434	+	Silent	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:113237434G>A	ENST00000413052.2	+	10	1926	c.1536G>A	c.(1534-1536)acG>acA	p.T512T	RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369644.1_Silent_p.T456T|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Silent_p.T512T|MOV10_ENST00000357443.2_Silent_p.T512T	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	512					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ACATTGTTACGGGCACCACCC	0.577																																					p.T512T		Atlas-SNP	.											.	MOV10	74	.	0			c.G1536A						.						79.0	70.0	73.0					1																	113237434		2203	4300	6503	SO:0001819	synonymous_variant	4343	exon10			TGTTACGGGCACC	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1536G>A	chr1.hg19:g.113237434G>A		272.0	0.0		252.0	61.0	NM_020963	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	ENST00000413052.2	hg19	CCDS853.1																																																																																			.	.		0.577	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	
COPA	1314	hgsc.bcm.edu	37	1	160303442	160303442	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:160303442C>A	ENST00000241704.7	-	5	566	c.337G>T	c.(337-339)Gat>Tat	p.D113Y	COPA_ENST00000368069.3_Missense_Mutation_p.D113Y	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	113					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCTGATCATCGGAGGCACTC	0.408																																					p.D113Y		Atlas-SNP	.											.	COPA	181	.	0			c.G337T						.						70.0	71.0	71.0					1																	160303442		2203	4300	6503	SO:0001583	missense	1314	exon5			GATCATCGGAGGC	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.337G>T	chr1.hg19:g.160303442C>A	ENSP00000241704:p.Asp113Tyr	111.0	0.0		230.0	158.0	NM_001098398	Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	hg19	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833778	0.91036	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.60920	0.15;0.15	5.12	5.12	0.69794	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	0.61677	0.2366	L	0.35414	1.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66056	-0.6018	10	0.87932	D	0	-21.1402	17.2891	0.87150	0.0:1.0:0.0:0.0	.	113;113	P53621;P53621-2	COPA_HUMAN;.	Y	113	ENSP00000357048:D113Y;ENSP00000241704:D113Y	ENSP00000241704:D113Y	D	-	1	0	COPA	158570066	1.000000	0.71417	0.900000	0.35374	0.946000	0.59487	7.369000	0.79578	2.652000	0.90054	0.655000	0.94253	GAT	.	.		0.408	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	
C1orf112	55732	hgsc.bcm.edu	37	1	169773232	169773232	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:169773232A>T	ENST00000286031.6	+	6	1029	c.329A>T	c.(328-330)tAt>tTt	p.Y110F	C1orf112_ENST00000413811.2_Missense_Mutation_p.Y81F|C1orf112_ENST00000456684.1_Missense_Mutation_p.Y168F|C1orf112_ENST00000498289.1_Intron|C1orf112_ENST00000359326.4_Missense_Mutation_p.Y110F	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	110										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAATCTGTGTATTCTGGGTGT	0.363																																					p.Y110F		Atlas-SNP	.											.	C1orf112	74	.	0			c.A329T						.						117.0	112.0	114.0					1																	169773232		2203	4300	6503	SO:0001583	missense	55732	exon6			CTGTGTATTCTGG	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.329A>T	chr1.hg19:g.169773232A>T	ENSP00000286031:p.Tyr110Phe	139.0	0.0		224.0	18.0	NM_018186	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	hg19	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.956231	0.53293	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	T;T;T	0.75704	-0.96;-0.22;-0.96	5.41	4.29	0.51040	.	0.055611	0.85682	D	0.000000	T	0.80476	0.4630	M	0.78637	2.42	0.45295	D	0.998295	D;D;D;D	0.89917	0.998;1.0;1.0;0.998	D;D;D;D	0.87578	0.994;0.998;0.998;0.994	T	0.82851	-0.0253	10	0.87932	D	0	-18.6356	10.0819	0.42395	0.9204:0.0:0.0796:0.0	.	81;52;110;168	B4E0A9;B4DGF2;Q9NSG2;B4DRP7	.;.;CA112_HUMAN;.	F	81;110;168;110	ENSP00000352276:Y110F;ENSP00000415583:Y168F;ENSP00000286031:Y110F	ENSP00000286031:Y110F	Y	+	2	0	C1orf112	168039856	1.000000	0.71417	0.996000	0.52242	0.117000	0.20001	6.675000	0.74493	0.899000	0.36444	-0.326000	0.08463	TAT	.	.		0.363	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186	
ASTN1	460	hgsc.bcm.edu	37	1	176913059	176913059	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:176913059G>T	ENST00000367654.3	-	14	2580	c.2369C>A	c.(2368-2370)tCg>tAg	p.S790*	ASTN1_ENST00000361833.2_Nonsense_Mutation_p.S782*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.S782*|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.S782*	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	790					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTGGGCTCCGAGATCTCCTC	0.512																																					p.S782X		Atlas-SNP	.											ASTN1,colon,carcinoma,0,1	ASTN1	314	.	0			c.C2345A						.						108.0	95.0	99.0					1																	176913059		2203	4300	6503	SO:0001587	stop_gained	460	exon14			GGCTCCGAGATCT	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2369C>A	chr1.hg19:g.176913059G>T	ENSP00000356626:p.Ser790*	87.0	0.0		176.0	11.0	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Nonsense_Mutation	SNP	ENST00000367654.3	hg19		.	.	.	.	.	.	.	.	.	.	G	39	7.859027	0.98528	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8039	18.966	0.92697	0.0:0.0:1.0:0.0	.	.	.	.	X	782;782;790;782;782	.	ENSP00000354536:S782X	S	-	2	0	ASTN1	175179682	1.000000	0.71417	0.956000	0.39512	0.970000	0.65996	8.630000	0.90987	2.576000	0.86940	0.655000	0.94253	TCG	.	.		0.512	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
AXDND1	126859	hgsc.bcm.edu	37	1	179504037	179504037	+	Missense_Mutation	SNP	G	G	C	rs200097954|rs368406759|rs6425573	byFrequency	TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:179504037G>C	ENST00000367618.3	+	25	3358	c.2971G>C	c.(2971-2973)Gaa>Caa	p.E991Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						agaagaagaagaacaacaaga	0.318													G|||	14	0.00279553	0.0	0.0058	5008	,	,		17137	0.002		0.004	False		,,,				2504	0.0041				p.E991Q		Atlas-SNP	.											.	AXDND1	142	.	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	c.G2971C						.						49.0	51.0	50.0					1																	179504037		2152	4286	6438	SO:0001583	missense	126859	exon25			GAAGAAGAACAAC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2971G>C	chr1.hg19:g.179504037G>C	ENSP00000356590:p.Glu991Gln	413.0	0.0		733.0	97.0	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	hg19	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052898	0.19907	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.19105	2.17;2.17	4.89	-6.02	0.02192	.	0.508747	0.16499	N	0.211773	T	0.08980	0.0222	N	0.24115	0.695	0.09310	N	1	B;B	0.24186	0.099;0.099	B;B	0.10450	0.003;0.005	T	0.15838	-1.0423	10	0.28530	T	0.3	-2.8152	6.1976	0.20557	0.4456:0.3814:0.173:0.0	rs6425573	875;991	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	991;875;851	ENSP00000356590:E991Q;ENSP00000391716:E851Q	ENSP00000353471:E875Q	E	+	1	0	AXDND1	177770660	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.365000	0.20348	-1.164000	0.02790	-1.047000	0.02352	GAA	.	G|1.000;|0.000		0.318	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
HMCN1	83872	hgsc.bcm.edu	37	1	186045722	186045722	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:186045722T>C	ENST00000271588.4	+	54	8682	c.8453T>C	c.(8452-8454)cTg>cCg	p.L2818P	HMCN1_ENST00000367492.2_Missense_Mutation_p.L2818P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2818	Ig-like C2-type 26.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCCACCCTCTGACCTCAAGT	0.428																																					p.L2818P		Atlas-SNP	.											.	HMCN1	797	.	0			c.T8453C						.						107.0	96.0	100.0					1																	186045722		2203	4300	6503	SO:0001583	missense	83872	exon54			ACCCTCTGACCTC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8453T>C	chr1.hg19:g.186045722T>C	ENSP00000271588:p.Leu2818Pro	68.0	0.0		143.0	21.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277260	0.80580	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.72725	-0.68;-0.68	4.78	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.074796	0.56097	D	0.000039	D	0.84656	0.5520	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87385	0.2359	10	0.87932	D	0	.	14.6147	0.68539	0.0:0.0:0.0:1.0	.	2818	Q96RW7	HMCN1_HUMAN	P	2818	ENSP00000271588:L2818P;ENSP00000356462:L2818P	ENSP00000271588:L2818P	L	+	2	0	HMCN1	184312345	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.997000	0.88414	1.896000	0.54893	0.533000	0.62120	CTG	.	.		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	hgsc.bcm.edu	37	1	186135944	186135944	+	Silent	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:186135944T>C	ENST00000271588.4	+	100	15673	c.15444T>C	c.(15442-15444)atT>atC	p.I5148I	HMCN1_ENST00000367492.2_Silent_p.I5148I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5148	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGCAGATATTGATGAGTGTG	0.498																																					p.I5148I		Atlas-SNP	.											.	HMCN1	797	.	0			c.T15444C						.						171.0	139.0	150.0					1																	186135944		2203	4300	6503	SO:0001819	synonymous_variant	83872	exon100			AGATATTGATGAG	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15444T>C	chr1.hg19:g.186135944T>C		106.0	0.0		184.0	13.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	hg19	CCDS30956.1																																																																																			.	.		0.498	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
KIF14	9928	hgsc.bcm.edu	37	1	200558357	200558357	+	Silent	SNP	C	C	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:200558357C>T	ENST00000367350.4	-	18	3540	c.3102G>A	c.(3100-3102)ttG>ttA	p.L1034L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1034	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTTTTGTAGCCAATGTTTCCA	0.333																																					p.L1034L		Atlas-SNP	.											.	KIF14	156	.	0			c.G3102A						.						149.0	143.0	145.0					1																	200558357		2202	4300	6502	SO:0001819	synonymous_variant	9928	exon18			TGTAGCCAATGTT	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3102G>A	chr1.hg19:g.200558357C>T		74.0	0.0		126.0	9.0	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	ENST00000367350.4	hg19	CCDS30963.1																																																																																			.	.		0.333	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
ADIPOR1	51094	hgsc.bcm.edu	37	1	202920181	202920181	+	Silent	SNP	T	T	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:202920181T>A	ENST00000340990.5	-	2	316	c.18A>T	c.(16-18)ggA>ggT	p.G6G	ADIPOR1_ENST00000436244.1_Silent_p.G6G|ADIPOR1_ENST00000367254.3_Silent_p.G6G	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	6					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCACCACAGATCCTTTGTGGG	0.582																																					p.G6G		Atlas-SNP	.											.	ADIPOR1	32	.	0			c.A18T						.						97.0	89.0	91.0					1																	202920181		2203	4300	6503	SO:0001819	synonymous_variant	51094	exon2			CACAGATCCTTTG		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.18A>T	chr1.hg19:g.202920181T>A		92.0	0.0		159.0	11.0	NM_015999	B3KMB0|Q53HS7|Q53YY6|Q9Y360	Silent	SNP	ENST00000340990.5	hg19	CCDS1430.1																																																																																			.	.		0.582	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999	
TMEM81	388730	hgsc.bcm.edu	37	1	205053415	205053415	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:205053415T>A	ENST00000367167.3	-	1	230	c.34A>T	c.(34-36)Agc>Tgc	p.S12C		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	12						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			AACCCCAGGCTCCCAAGGACA	0.502																																					p.S12C		Atlas-SNP	.											TMEM81,right_upper_lobe,carcinoma,+2,1	TMEM81	23	.	0			c.A34T						.						78.0	77.0	77.0					1																	205053415		2203	4300	6503	SO:0001583	missense	388730	exon1			CCAGGCTCCCAAG	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.34A>T	chr1.hg19:g.205053415T>A	ENSP00000356135:p.Ser12Cys	190.0	0.0		336.0	21.0	NM_203376	Q6UVZ4	Missense_Mutation	SNP	ENST00000367167.3	hg19	CCDS1450.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.656407	0.67586	.	.	ENSG00000174529	ENST00000367167	T	0.33438	1.41	5.31	4.18	0.49190	.	0.355168	0.26400	N	0.024586	T	0.37598	0.1009	M	0.63428	1.95	0.09310	N	1	D	0.54964	0.969	P	0.50378	0.639	T	0.25117	-1.0141	10	0.56958	D	0.05	-6.0078	7.9779	0.30166	0.0:0.1652:0.0:0.8348	.	12	Q6P7N7	TMM81_HUMAN	C	12	ENSP00000356135:S12C	ENSP00000356135:S12C	S	-	1	0	TMEM81	203320038	0.000000	0.05858	0.048000	0.18961	0.411000	0.31082	0.767000	0.26575	0.973000	0.38340	0.455000	0.32223	AGC	.	.		0.502	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376	
CR1L	1379	hgsc.bcm.edu	37	1	207870917	207870917	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:207870917G>C	ENST00000508064.2	+	6	992	c.932G>C	c.(931-933)gGg>gCg	p.G311A	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	311	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTTCACCCGGGCAGGAAGTG	0.552																																					p.G311A		Atlas-SNP	.											.	CR1L	97	.	0			c.G932C						.						151.0	149.0	150.0					1																	207870917		1896	4113	6009	SO:0001583	missense	1379	exon6			CACCCGGGCAGGA	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.932G>C	chr1.hg19:g.207870917G>C	ENSP00000421736:p.Gly311Ala	435.0	0.0		744.0	48.0	NM_175710	Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	hg19	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	12.21	1.868234	0.32977	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.72394	-0.65	2.53	0.426	0.16479	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.84669	0.5523	M	0.93241	3.395	0.09310	N	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.71407	-0.4602	9	0.72032	D	0.01	.	5.1339	0.14924	0.3183:0.0:0.6817:0.0	.	311	Q2VPA4	CR1L_HUMAN	A	311	ENSP00000421736:G311A	ENSP00000434864:G255A	G	+	2	0	CR1L	205937540	0.010000	0.17322	0.000000	0.03702	0.004000	0.04260	1.115000	0.31209	-0.026000	0.13895	0.298000	0.19748	GGG	.	.		0.552	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735	
VASH2	79805	hgsc.bcm.edu	37	1	213125028	213125028	+	Silent	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:213125028G>A	ENST00000517399.1	+	1	144	c.144G>A	c.(142-144)ctG>ctA	p.L48L	VASH2_ENST00000366964.3_5'UTR|VASH2_ENST00000271776.4_Intron|VASH2_ENST00000366968.4_5'UTR|VASH2_ENST00000366966.2_5'UTR|VASH2_ENST00000366965.2_Silent_p.L48L|VASH2_ENST00000366967.2_Intron			Q86V25	VASH2_HUMAN	vasohibin 2	48					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		GCGGGGTGCTGTTCCACGTCA	0.672																																					p.L48L		Atlas-SNP	.											.	VASH2	55	.	0			c.G144A						.						43.0	39.0	40.0					1																	213125028		2198	4297	6495	SO:0001819	synonymous_variant	79805	exon2			GGTGCTGTTCCAC	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.144G>A	chr1.hg19:g.213125028G>A		108.0	0.0		170.0	62.0	NM_024749	B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Silent	SNP	ENST00000517399.1	hg19	CCDS1511.1																																																																																			.	.		0.672	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1	NM_024749	
BPNT1	10380	hgsc.bcm.edu	37	1	220232311	220232311	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:220232311T>G	ENST00000469520.2	-	10	1251	c.802A>C	c.(802-804)Aat>Cat	p.N268H	BPNT1_ENST00000414869.2_Missense_Mutation_p.N232H|BPNT1_ENST00000354807.3_Missense_Mutation_p.N283H|BPNT1_ENST00000322067.7_Missense_Mutation_p.N268H|BPNT1_ENST00000544404.1_Missense_Mutation_p.N213H			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	268					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TGAAGAACATTCCCATGGATA	0.398																																					p.N268H		Atlas-SNP	.											.	BPNT1	29	.	0			c.A802C						.						154.0	143.0	146.0					1																	220232311		1918	4147	6065	SO:0001583	missense	10380	exon9			GAACATTCCCATG	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.802A>C	chr1.hg19:g.220232311T>G	ENSP00000446828:p.Asn268His	91.0	0.0		153.0	21.0	NM_006085	A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	hg19	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.396540	0.62177	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.28	5.28	0.74379	.	0.086318	0.85682	D	0.000000	D	0.90167	0.6927	M	0.75777	2.31	0.80722	D	1	P;D;P	0.89917	0.526;1.0;0.48	B;D;B	0.71414	0.412;0.973;0.154	D	0.90618	0.4557	10	0.51188	T	0.08	.	15.5126	0.75795	0.0:0.0:0.0:1.0	.	232;283;268	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	H	268;268;283;268;213;232	ENSP00000318852:N268H;ENSP00000446828:N268H;ENSP00000346862:N283H;ENSP00000444398:N213H;ENSP00000410348:N232H	ENSP00000307087:N268H	N	-	1	0	BPNT1	218298934	1.000000	0.71417	0.980000	0.43619	0.802000	0.45316	7.901000	0.87382	2.136000	0.66102	0.454000	0.30748	AAT	.	.		0.398	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085	
HLX	3142	hgsc.bcm.edu	37	1	221057792	221057792	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:221057792A>G	ENST00000366903.6	+	4	2714	c.1213A>G	c.(1213-1215)Aca>Gca	p.T405A	HLX_ENST00000549319.1_Missense_Mutation_p.T191A	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	405	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GCACCAAACAACAGTTATTAA	0.637																																					p.T405A		Atlas-SNP	.											.	HLX	67	.	0			c.A1213G						.						65.0	56.0	59.0					1																	221057792		2203	4300	6503	SO:0001583	missense	3142	exon4			CAAACAACAGTTA	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1213A>G	chr1.hg19:g.221057792A>G	ENSP00000355870:p.Thr405Ala	167.0	0.0		336.0	69.0	NM_021958	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	hg19	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.521063	0.44866	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;T;T	0.89415	-2.51;0.57;3.33	5.03	2.65	0.31530	.	0.244651	0.26058	N	0.026596	T	0.77883	0.4197	N	0.19112	0.55	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.63444	-0.6636	10	0.33940	T	0.23	-14.4255	7.1511	0.25612	0.8149:0.0:0.1851:0.0	.	405	Q14774	HLX_HUMAN	A	405;138;191	ENSP00000355870:T405A;ENSP00000408248:T138A;ENSP00000449882:T191A	ENSP00000355870:T405A	T	+	1	0	HLX	219124415	0.432000	0.25554	0.230000	0.23976	0.903000	0.53119	3.721000	0.54941	0.327000	0.23409	-0.441000	0.05720	ACA	.	.		0.637	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958	
DISC1	27185	hgsc.bcm.edu	37	1	231829938	231829938	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:231829938A>G	ENST00000602281.1	+	2	487	c.434A>G	c.(433-435)cAa>cGa	p.Q145R	DISC1_ENST00000366636.4_Missense_Mutation_p.Q145R|DISC1_ENST00000366633.3_Missense_Mutation_p.Q145R|DISC1_ENST00000317586.4_Missense_Mutation_p.Q145R|DISC1_ENST00000537876.1_Missense_Mutation_p.Q145R|DISC1_ENST00000439617.2_Missense_Mutation_p.Q145R|DISC1_ENST00000366637.3_5'UTR|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000539444.1_Missense_Mutation_p.Q145R|DISC1_ENST00000535983.1_Missense_Mutation_p.Q145R	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	145	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGGTGGCAGCAAGAGTTTGCA	0.627																																					p.Q145R		Atlas-SNP	.											.	DISC1	207	.	0			c.A434G						.						43.0	43.0	43.0					1																	231829938		2203	4300	6503	SO:0001583	missense	27185	exon2			GGCAGCAAGAGTT	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.434A>G	chr1.hg19:g.231829938A>G	ENSP00000473425:p.Gln145Arg	51.0	0.0		81.0	11.0	NM_001164541	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	hg19	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.186019	0.38609	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.65	-0.984	0.10259	.	0.928727	0.09182	N	0.837308	T	0.28599	0.0708	L	0.27053	0.805	0.09310	N	1	B;P;P;P;P;P;P;P;P;P;B;D;P;P;P;P;D;P;P;P;B	0.56035	0.037;0.902;0.902;0.902;0.902;0.902;0.902;0.902;0.902;0.902;0.1;0.974;0.949;0.902;0.763;0.763;0.974;0.763;0.763;0.902;0.1	B;P;B;P;B;B;P;P;B;P;B;P;P;P;B;B;P;B;B;B;B	0.53954	0.012;0.52;0.342;0.602;0.311;0.415;0.52;0.52;0.311;0.52;0.038;0.738;0.738;0.52;0.311;0.311;0.738;0.311;0.311;0.442;0.038	T	0.20273	-1.0280	10	0.59425	D	0.04	-1.9438	4.9586	0.14054	0.6538:0.1714:0.1749:0.0	.	145;145;145;145;145;145;145;145;145;145;145;145;145;145;145;145;145;145;145;145;145	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	R	145	ENSP00000403888:Q145R;ENSP00000320784:Q145R;ENSP00000355596:Q145R;ENSP00000443996:Q145R;ENSP00000440909:Q145R;ENSP00000355593:Q145R;ENSP00000440953:Q145R;ENSP00000295051:Q145R;ENSP00000441193:Q145R	ENSP00000295051:Q145R	Q	+	2	0	DISC1	229896561	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.159000	0.10056	-0.162000	0.10964	0.533000	0.62120	CAA	.	.		0.627	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662	
C1orf101	257044	hgsc.bcm.edu	37	1	244643048	244643048	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:244643048A>T	ENST00000366534.4	+	5	342	c.288A>T	c.(286-288)gaA>gaT	p.E96D	C1orf101_ENST00000366533.4_Missense_Mutation_p.E96D|C1orf101_ENST00000366531.3_De_novo_Start_InFrame|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	96						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TATTTGTGGAAAGTTCTCATA	0.299																																					p.E96D		Atlas-SNP	.											.	C1orf101	158	.	0			c.A288T						.						155.0	156.0	156.0					1																	244643048		2201	4295	6496	SO:0001583	missense	257044	exon5			TGTGGAAAGTTCT	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.288A>T	chr1.hg19:g.244643048A>T	ENSP00000355492:p.Glu96Asp	100.0	0.0		190.0	39.0	NM_173807	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	hg19	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	A	0.197	-1.047931	0.01981	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042	T;T;T	0.27402	1.68;1.68;1.67	4.27	-8.54	0.00912	.	0.895811	0.09385	N	0.809415	T	0.06142	0.0159	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.14896	-1.0456	10	0.11794	T	0.64	.	2.9625	0.05897	0.4949:0.1186:0.0814:0.3051	.	86;96;96	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	D	96;96;96;86	ENSP00000355492:E96D;ENSP00000355491:E96D;ENSP00000395796:E86D	ENSP00000355491:E96D	E	+	3	2	C1orf101	242709671	0.000000	0.05858	0.000000	0.03702	0.289000	0.27227	-2.113000	0.01331	-3.502000	0.00151	-0.223000	0.12442	GAA	.	.		0.299	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807	
OR2G6	391211	hgsc.bcm.edu	37	1	248685500	248685500	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:248685500A>C	ENST00000343414.4	+	1	585	c.553A>C	c.(553-555)Atc>Ctc	p.I185L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCAGTGCTCATCAAACTGGC	0.507																																					p.I185L		Atlas-SNP	.											.	OR2G6	124	.	0			c.A553C						.						122.0	117.0	119.0					1																	248685500		2203	4300	6503	SO:0001583	missense	391211	exon1			GTGCTCATCAAAC		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.553A>C	chr1.hg19:g.248685500A>C	ENSP00000341291:p.Ile185Leu	145.0	0.0		254.0	19.0	NM_001013355	B2RP33	Missense_Mutation	SNP	ENST00000343414.4	hg19	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	2.466	-0.323102	0.05350	.	.	ENSG00000188558	ENST00000343414	T	0.00012	9.3	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	U	0.000414	T	0.00039	0.0001	N	0.04820	-0.15	0.09310	N	1	B	0.23316	0.083	B	0.27262	0.078	T	0.05954	-1.0854	10	0.05833	T	0.94	.	6.998	0.24793	0.766:0.2339:0.0:0.0	.	185	Q5TZ20	OR2G6_HUMAN	L	185	ENSP00000341291:I185L	ENSP00000341291:I185L	I	+	1	0	OR2G6	246752123	0.000000	0.05858	0.989000	0.46669	0.927000	0.56198	-0.367000	0.07553	1.523000	0.49018	0.329000	0.21502	ATC	.	.		0.507	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842	
NT5C1B	93034	hgsc.bcm.edu	37	2	18757614	18757614	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr2:18757614A>C	ENST00000359846.2	-	9	1422	c.1345T>G	c.(1345-1347)Ttt>Gtt	p.F449V	NT5C1B_ENST00000600945.1_Missense_Mutation_p.F449V|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.F449V|NT5C1B_ENST00000304081.4_Missense_Mutation_p.F389V	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	449					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCTCCATCAAACATTGTCGCA	0.413																																					p.F466V		Atlas-SNP	.											.	NT5C1B	72	.	0			c.T1396G						.						92.0	85.0	87.0					2																	18757614		2203	4300	6503	SO:0001583	missense	93034	exon9			CATCAAACATTGT	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1345T>G	chr2.hg19:g.18757614A>C	ENSP00000352904:p.Phe449Val	358.0	0.0		368.0	66.0	NM_001199087	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	hg19	CCDS33150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.5|20.5	4.002318|4.002318	0.74932|0.74932	.|.	.|.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013|ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846|ENST00000418427	D|.	0.89196|.	-2.48|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.349704|.	0.37053|.	N|.	0.002264|.	T|T	0.63224|0.63224	0.2493|0.2493	L|L	0.48260|0.48260	1.515|1.515	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P;P;P;P;P;P|.	0.48764|.	0.866;0.866;0.866;0.741;0.892;0.837;0.866;0.915|.	P;P;P;P;P;P;P;P|.	0.50896|.	0.593;0.593;0.593;0.491;0.575;0.457;0.593;0.653|.	T|T	0.60510|0.60510	-0.7249|-0.7249	10|5	0.41790|.	T|.	0.15|.	-19.8052|-19.8052	15.7698|15.7698	0.78157|0.78157	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	432;466;389;432;391;389;449;449|.	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4|.	.;.;.;.;.;.;5NT1B_HUMAN;.|.	V|G	449;391;389;449|103	ENSP00000412639:F391V|.	ENSP00000305979:F389V|.	F|V	-|-	1|2	0|0	NT5C1B-RDH14;NT5C1B|NT5C1B	18621095|18621095	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.729000|0.729000	0.41735|0.41735	9.265000|9.265000	0.95647|0.95647	2.189000|2.189000	0.69895|0.69895	0.533000|0.533000	0.62120|0.62120	TTT|GTT	.	.		0.413	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1		
PUS10	150962	hgsc.bcm.edu	37	2	61236071	61236071	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr2:61236071T>C	ENST00000316752.6	-	3	467	c.206A>G	c.(205-207)aAg>aGg	p.K69R	PUS10_ENST00000407787.1_Missense_Mutation_p.K69R	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	69					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TCGAATTTTCTTGGGAGGTGG	0.368																																					p.K69R		Atlas-SNP	.											.	PUS10	49	.	0			c.A206G						.						67.0	65.0	66.0					2																	61236071		2203	4299	6502	SO:0001583	missense	150962	exon3			ATTTTCTTGGGAG	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.206A>G	chr2.hg19:g.61236071T>C	ENSP00000326003:p.Lys69Arg	134.0	0.0		110.0	21.0	NM_144709	Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	hg19	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.387402	0.82902	.	.	ENSG00000162927	ENST00000316752;ENST00000407787;ENST00000421319	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.79458	0.4449	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79638	-0.1720	9	0.35671	T	0.21	-14.273	13.7534	0.62921	0.0:0.0:0.0:1.0	.	69	Q3MIT2	PUS10_HUMAN	R	69	.	ENSP00000326003:K69R	K	-	2	0	PUS10	61089575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.968000	0.63728	2.142000	0.66516	0.477000	0.44152	AAG	.	.		0.368	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709	
CCT4	10575	hgsc.bcm.edu	37	2	62107502	62107502	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr2:62107502T>C	ENST00000394440.3	-	4	594	c.298A>G	c.(298-300)Ata>Gta	p.I100V	CCT4_ENST00000544185.1_Intron|CCT4_ENST00000544079.1_Missense_Mutation_p.I70V|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Missense_Mutation_p.I44V	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	100					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			CCTGCTTCTATATCTTGAGCC	0.428																																					p.I100V		Atlas-SNP	.											.	CCT4	38	.	0			c.A298G						.						135.0	137.0	137.0					2																	62107502		2203	4300	6503	SO:0001583	missense	10575	exon4			CTTCTATATCTTG		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.298A>G	chr2.hg19:g.62107502T>C	ENSP00000377958:p.Ile100Val	87.0	0.0		84.0	16.0	NM_006430	B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	hg19	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	T	5.831	0.337646	0.11013	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000538252	T;T;T	0.78246	-1.16;-1.16;-1.16	5.65	4.5	0.54988	Chaperonin TCP-1, conserved site (1);	0.045054	0.85682	D	0.000000	T	0.54191	0.1843	N	0.05351	-0.065	0.80722	D	1	B;B	0.18013	0.025;0.014	B;B	0.19946	0.023;0.027	T	0.50092	-0.8868	10	0.02654	T	1	-17.0132	11.3032	0.49318	0.0:0.0719:0.0:0.9281	.	70;100	F5H5W3;P50991	.;TCPD_HUMAN	V	100;70;44	ENSP00000377958:I100V;ENSP00000443061:I70V;ENSP00000442174:I44V	ENSP00000377958:I100V	I	-	1	0	CCT4	61961006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.145000	0.58065	0.978000	0.38470	0.533000	0.62120	ATA	.	.		0.428	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2		
RIF1	55183	hgsc.bcm.edu	37	2	152267846	152267846	+	Silent	SNP	T	T	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr2:152267846T>G	ENST00000243326.5	+	2	660	c.177T>G	c.(175-177)gtT>gtG	p.V59V	RIF1_ENST00000453091.2_Silent_p.V59V|RIF1_ENST00000433166.2_Silent_p.V59V|RIF1_ENST00000444746.2_Silent_p.V59V|RIF1_ENST00000428287.2_Silent_p.V59V|RIF1_ENST00000430328.2_Silent_p.V59V			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGTACAAAGTTTTAAAGGTAT	0.308																																					p.V59V		Atlas-SNP	.											.	RIF1	244	.	0			c.T177G						.						77.0	85.0	82.0					2																	152267846		2203	4300	6503	SO:0001819	synonymous_variant	55183	exon3			CAAAGTTTTAAAG	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.177T>G	chr2.hg19:g.152267846T>G		714.0	0.0		786.0	92.0	NM_018151	A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	hg19	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	T	1.485	-0.556207	0.03967	.	.	ENSG00000080345	ENST00000414861	.	.	.	4.93	1.05	0.20165	.	.	.	.	.	T	0.26195	0.0639	.	.	.	0.31836	N	0.624086	.	.	.	.	.	.	T	0.32640	-0.9899	4	.	.	.	-2.0877	0.2974	0.00267	0.2341:0.2015:0.147:0.4174	.	.	.	.	V	51	.	.	F	+	1	0	RIF1	151976092	0.916000	0.31088	0.836000	0.33094	0.198000	0.23893	-0.246000	0.08878	0.747000	0.32809	0.460000	0.39030	TTT	.	.		0.308	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
KLHL23	151230	hgsc.bcm.edu	37	2	170597991	170597991	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr2:170597991A>G	ENST00000392647.2	+	3	1554	c.1310A>G	c.(1309-1311)cAg>cGg	p.Q437R	KLHL23_ENST00000272797.4_Missense_Mutation_p.Q437R|KLHL23_ENST00000602521.1_5'UTR	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	437										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GACAAAGTTCAGAGCTACAAT	0.443																																					p.Q437R		Atlas-SNP	.											.	KLHL23	52	.	0			c.A1310G						.						166.0	141.0	150.0					2																	170597991		2203	4300	6503	SO:0001583	missense	151230	exon3			AAGTTCAGAGCTA	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1310A>G	chr2.hg19:g.170597991A>G	ENSP00000376419:p.Gln437Arg	139.0	0.0		143.0	14.0	NM_144711	Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	hg19	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.926576	0.92319	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.77750	-1.12;-1.12;-1.12	5.77	5.77	0.91146	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.89911	0.6852	M	0.89095	3.005	0.29060	N	0.883976	D	0.89917	1.0	D	0.87578	0.998	D	0.91760	0.5419	9	0.87932	D	0	.	16.0977	0.81139	1.0:0.0:0.0:0.0	.	437	Q8NBE8	KLH23_HUMAN	R	437;437;258	ENSP00000272797:Q437R;ENSP00000376419:Q437R;ENSP00000394732:Q258R	ENSP00000272797:Q437R	Q	+	2	0	KLHL23	170306237	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.339000	0.96797	2.216000	0.71823	0.528000	0.53228	CAG	.	.		0.443	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711	
TTN	7273	hgsc.bcm.edu	37	2	179574355	179574355	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr2:179574355T>C	ENST00000591111.1	-	97	27964	c.27740A>G	c.(27739-27741)tAc>tGc	p.Y9247C	TTN_ENST00000342992.6_Missense_Mutation_p.Y8320C|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y9564C|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13370	Ig-like 75.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCATGTGTACAAACCAGC	0.438																																					p.Y9564C		Atlas-SNP	.											.	TTN	18412	.	0			c.A28691G						.						164.0	168.0	166.0					2																	179574355		2059	4198	6257	SO:0001583	missense	7273	exon99			CATGTGTACAAAC	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.27740A>G	chr2.hg19:g.179574355T>C	ENSP00000465570:p.Tyr9247Cys	121.0	0.0		148.0	25.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	T	14.36	2.513640	0.44763	.	.	ENSG00000155657	ENST00000342992	T	0.79554	-1.28	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93582	0.7951	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95688	0.8738	9	0.87932	D	0	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	9247	Q8WZ42	TITIN_HUMAN	C	8320	ENSP00000343764:Y8320C	ENSP00000343764:Y8320C	Y	-	2	0	TTN	179282600	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	TAC	.	.		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DNAH7	56171	hgsc.bcm.edu	37	2	196636398	196636398	+	Nonsense_Mutation	SNP	G	G	A	rs57513754		TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr2:196636398G>A	ENST00000312428.6	-	61	11519	c.11419C>T	c.(11419-11421)Caa>Taa	p.Q3807*	DNAH7_ENST00000409063.1_Nonsense_Mutation_p.Q290*	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3807					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTGCTTTTTGAATATTTACG	0.338																																					p.Q3807X		Atlas-SNP	.											.	DNAH7	512	.	0			c.C11419T						.						175.0	155.0	161.0					2																	196636398		1838	4102	5940	SO:0001587	stop_gained	56171	exon61			CTTTTTGAATATT	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11419C>T	chr2.hg19:g.196636398G>A	ENSP00000311273:p.Gln3807*	112.0	0.0		107.0	45.0	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	hg19	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	36	5.771063	0.96914	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	18.2425	0.89971	0.0:0.0:1.0:0.0	.	.	.	.	X	3807;290	.	ENSP00000311273:Q3807X	Q	-	1	0	DNAH7	196344643	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	6.695000	0.74593	2.630000	0.89119	0.655000	0.94253	CAA	.	.		0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
RUFY4	285180	hgsc.bcm.edu	37	2	218939937	218939937	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr2:218939937A>G	ENST00000344321.7	+	9	1240	c.722A>G	c.(721-723)cAa>cGa	p.Q241R	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.Q261R|RUFY4_ENST00000463872.1_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	241							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGTCCCAGCAACAAAGGCAT	0.527																																					p.Q241R		Atlas-SNP	.											.	RUFY4	59	.	0			c.A722G						.						23.0	25.0	25.0					2																	218939937		1928	4147	6075	SO:0001583	missense	285180	exon9			CCCAGCAACAAAG	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.722A>G	chr2.hg19:g.218939937A>G	ENSP00000345900:p.Gln241Arg	311.0	0.0		341.0	77.0	NM_198483	Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	hg19		.	.	.	.	.	.	.	.	.	.	A	10.10	1.256792	0.22965	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.44482	1.53;0.92	4.37	-2.51	0.06365	.	0.869159	0.09610	N	0.779036	T	0.21962	0.0529	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.25363	-1.0134	10	0.19147	T	0.46	-0.0885	1.2137	0.01910	0.2746:0.369:0.2093:0.1472	.	241	Q6ZNE9	RUFY4_HUMAN	R	241;261	ENSP00000345900:Q241R;ENSP00000363270:Q261R	ENSP00000345900:Q241R	Q	+	2	0	RUFY4	218648182	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.074000	0.11450	-0.046000	0.13446	0.383000	0.25322	CAA	.	.		0.527	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483	
ACSL3	2181	hgsc.bcm.edu	37	2	223781203	223781203	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr2:223781203A>G	ENST00000357430.3	+	5	1076	c.545A>G	c.(544-546)tAt>tGt	p.Y182C	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.Y182C	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	182					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TGTTTTATGTATAATTTTCAG	0.378			T	ETV1	prostate																																p.Y182C		Atlas-SNP	.		Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	.	ACSL3	107	.	0			c.A545G						.						135.0	130.0	132.0					2																	223781203		2203	4300	6503	SO:0001583	missense	2181	exon4			TTATGTATAATTT	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.545A>G	chr2.hg19:g.223781203A>G	ENSP00000350012:p.Tyr182Cys	107.0	0.0		126.0	46.0	NM_203372	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	hg19	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276933	0.40294	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.40476	1.03;1.03;1.03	5.07	5.07	0.68467	AMP-dependent synthetase/ligase (1);	0.125773	0.56097	D	0.000030	T	0.48554	0.1506	M	0.87758	2.905	0.58432	D	0.999993	B	0.12630	0.006	B	0.18263	0.021	T	0.54050	-0.8351	10	0.62326	D	0.03	-16.2479	9.9807	0.41811	0.9131:0.0:0.0869:0.0	.	182	O95573	ACSL3_HUMAN	C	182;182;30	ENSP00000350012:Y182C;ENSP00000375918:Y182C;ENSP00000441643:Y30C	ENSP00000350012:Y182C	Y	+	2	0	ACSL3	223489447	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.206000	0.65192	2.031000	0.59945	0.533000	0.62120	TAT	.	.		0.378	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457	
SPHKAP	80309	hgsc.bcm.edu	37	2	228883428	228883428	+	Missense_Mutation	SNP	T	T	A	rs34143542		TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr2:228883428T>A	ENST00000392056.3	-	7	2188	c.2142A>T	c.(2140-2142)ttA>ttT	p.L714F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L714F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	714						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATATCACATCTAAAAGCAGTT	0.408																																					p.L714F		Atlas-SNP	.											.	SPHKAP	750	.	0			c.A2142T						.						201.0	181.0	188.0					2																	228883428		2203	4300	6503	SO:0001583	missense	80309	exon7			CACATCTAAAAGC		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2142A>T	chr2.hg19:g.228883428T>A	ENSP00000375909:p.Leu714Phe	87.0	0.0		84.0	26.0	NM_030623	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	hg19	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.461283	0.01062	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.37915	1.17;1.17	5.62	0.707	0.18139	.	0.139121	0.64402	N	0.000003	T	0.05273	0.0140	N	0.00142	-2.005	0.20307	N	0.999917	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.37549	-0.9701	10	0.02654	T	1	.	2.9806	0.05952	0.3523:0.0:0.332:0.3157	.	714;714	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	F	714	ENSP00000375909:L714F;ENSP00000339886:L714F	ENSP00000339886:L714F	L	-	3	2	SPHKAP	228591672	1.000000	0.71417	0.854000	0.33618	0.456000	0.32438	1.968000	0.40500	0.119000	0.18210	-0.795000	0.03280	TTA	.	.		0.408	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
MYEOV2	150678	hgsc.bcm.edu	37	2	241066176	241066176	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr2:241066176T>G	ENST00000307266.3	-	5	562	c.563A>C	c.(562-564)aAg>aCg	p.K188T		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GGATTGGTTCTTCCGTAAACT	0.478																																					p.K188T		Atlas-SNP	.											.	MYEOV2	20	.	0			c.A563C						.						251.0	247.0	248.0					2																	241066176		2203	4300	6503	SO:0001583	missense	150678	exon5			TGGTTCTTCCGTA	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.563A>C	chr2.hg19:g.241066176T>G	ENSP00000304147:p.Lys188Thr	159.0	0.0		146.0	17.0	NM_138336	Q8N110	Missense_Mutation	SNP	ENST00000307266.3	hg19	CCDS2532.1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.685673	0.29962	.	.	ENSG00000172428	ENST00000307266	.	.	.	1.78	-0.741	0.11112	.	.	.	.	.	T	0.46619	0.1402	.	.	.	0.09310	N	1	D	0.55172	0.97	P	0.55713	0.782	T	0.36456	-0.9747	7	0.87932	D	0	.	4.2445	0.10665	0.0:0.407:0.0:0.593	.	188	Q8WXC6-1	.	T	188	.	ENSP00000304147:K188T	K	-	2	0	MYEOV2	240714849	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	-0.140000	0.10342	-0.181000	0.10619	0.338000	0.21704	AAG	.	.		0.478	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336	
TTC21A	199223	hgsc.bcm.edu	37	3	39152495	39152495	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr3:39152495G>C	ENST00000431162.2	+	4	556	c.422G>C	c.(421-423)aGa>aCa	p.R141T	GORASP1_ENST00000319283.3_5'Flank|TTC21A_ENST00000301819.6_Missense_Mutation_p.R141T|TTC21A_ENST00000440121.1_Missense_Mutation_p.R141T			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	141										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAGATTTCTAGAGGCTTCAGA	0.522																																					p.R141T		Atlas-SNP	.											.	TTC21A	96	.	0			c.G422C						.						67.0	69.0	68.0					3																	39152495		1958	4165	6123	SO:0001583	missense	199223	exon4			TTTCTAGAGGCTT	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.422G>C	chr3.hg19:g.39152495G>C	ENSP00000398211:p.Arg141Thr	70.0	0.0		86.0	11.0	NM_001105513	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	hg19	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	1.264	-0.615034	0.03663	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.63096	0.01;0.01;-0.02	5.74	-5.88	0.02290	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	1.902520	0.02061	N	0.050794	T	0.43831	0.1265	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.001	T	0.21008	-1.0258	10	0.31617	T	0.26	1.7895	6.615	0.22773	0.6378:0.1018:0.1573:0.1031	.	141;141;141;141;141	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	T	141	ENSP00000301819:R141T;ENSP00000398211:R141T;ENSP00000410882:R141T	ENSP00000301819:R141T	R	+	2	0	TTC21A	39127499	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.095000	0.11077	-1.530000	0.01751	-0.140000	0.14226	AGA	.	.		0.522	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755	
CTNNB1	1499	hgsc.bcm.edu	37	3	41274911	41274911	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr3:41274911T>A	ENST00000349496.5	+	8	1441	c.1161T>A	c.(1159-1161)aaT>aaA	p.N387K	CTNNB1_ENST00000396183.3_Missense_Mutation_p.N387K|CTNNB1_ENST00000396185.3_Missense_Mutation_p.N387K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.N380K|CTNNB1_ENST00000405570.1_Missense_Mutation_p.N387K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	387					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.N387K(4)	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)		CTCTCAGGAATCTTTCAGATG	0.393		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.N387K	Colon(6;3 56 14213 18255)	Atlas-SNP	.		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	CTNNB1,NS,carcinoma,0,5	CTNNB1	4904	.	4	Substitution - Missense(4)	large_intestine(1)|prostate(1)|liver(1)|kidney(1)	c.T1161A						.						102.0	93.0	96.0					3																	41274911		2203	4300	6503	SO:0001583	missense	1499	exon8	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	CAGGAATCTTTCA	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.1161T>A	chr3.hg19:g.41274911T>A	ENSP00000344456:p.Asn387Lys	141.0	1.0		153.0	19.0	NM_001098209	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	hg19	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.832364	0.71258	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	5.72	1.33	0.21861	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90263	0.6955	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.88091	0.2813	10	0.54805	T	0.06	-10.1444	8.463	0.32938	0.0:0.3714:0.0:0.6286	.	315;387	B4DSW9;P35222	.;CTNB1_HUMAN	K	387;387;387;380;387	ENSP00000385604:N387K;ENSP00000379486:N387K;ENSP00000344456:N387K;ENSP00000411226:N380K;ENSP00000379488:N387K	ENSP00000344456:N387K	N	+	3	2	CTNNB1	41249915	0.995000	0.38212	0.998000	0.56505	0.998000	0.95712	0.358000	0.20216	0.227000	0.20999	0.533000	0.62120	AAT	.	.		0.393	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
DZIP3	9666	hgsc.bcm.edu	37	3	108380762	108380762	+	Silent	SNP	T	T	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr3:108380762T>A	ENST00000361582.3	+	20	2468	c.2238T>A	c.(2236-2238)acT>acA	p.T746T	DZIP3_ENST00000463306.1_Silent_p.T746T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	746					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATGGAGAAACTGAAAAGGAAA	0.348																																					p.T746T		Atlas-SNP	.											.	DZIP3	111	.	0			c.T2238A						.						105.0	106.0	106.0					3																	108380762		2203	4300	6503	SO:0001819	synonymous_variant	9666	exon20			AGAAACTGAAAAG	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2238T>A	chr3.hg19:g.108380762T>A		428.0	1.0		425.0	163.0	NM_014648	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	hg19	CCDS2952.1																																																																																			.	.		0.348	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	
LSAMP	4045	hgsc.bcm.edu	37	3	115529252	115529252	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr3:115529252G>A	ENST00000490035.2	-	7	1428	c.929C>T	c.(928-930)tCg>tTg	p.S310L	LSAMP_ENST00000539563.1_Missense_Mutation_p.S330L	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	310					cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TCCTCTCACCGACCCAGGTCC	0.463																																					p.S310L		Atlas-SNP	.											LSAMP,NS,carcinoma,0,1	LSAMP	62	.	0			c.C929T						.						44.0	44.0	44.0					3																	115529252		2203	4300	6503	SO:0001583	missense	4045	exon7			CTCACCGACCCAG	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.929C>T	chr3.hg19:g.115529252G>A	ENSP00000419000:p.Ser310Leu	252.0	1.0		252.0	59.0	NM_002338	Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	hg19	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334713	0.60853	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.58506	0.4;0.67;0.33	6.06	6.06	0.98353	.	0.168326	0.39615	N	0.001308	T	0.42337	0.1198	N	0.08118	0	0.36650	D	0.877368	B;B	0.27140	0.021;0.169	B;B	0.17433	0.005;0.018	T	0.48433	-0.9036	10	0.72032	D	0.01	0.2826	20.6243	0.99512	0.0:0.0:1.0:0.0	.	310;310	B2RCU8;Q13449	.;LSAMP_HUMAN	L	317;310;330	ENSP00000328455:S317L;ENSP00000419000:S310L;ENSP00000443429:S330L	ENSP00000328455:S317L	S	-	2	0	LSAMP	117011942	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.385000	0.73182	2.879000	0.98667	0.650000	0.86243	TCG	.	.		0.463	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338	
COL6A5	256076	hgsc.bcm.edu	37	3	130110508	130110508	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr3:130110508A>C	ENST00000432398.2	+	7	3397	c.2903A>C	c.(2902-2904)aAa>aCa	p.K968T	COL6A5_ENST00000265379.6_Missense_Mutation_p.K968T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	968	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCAGGGAATAAAAACAATACT	0.393																																					p.K968T		Atlas-SNP	.											.	COL6A5	205	.	0			c.A2903C						.						45.0	36.0	39.0					3																	130110508		692	1591	2283	SO:0001583	missense	256076	exon7			GGAATAAAAACAA	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2903A>C	chr3.hg19:g.130110508A>C	ENSP00000390895:p.Lys968Thr	555.0	0.0		572.0	71.0	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	hg19		.	.	.	.	.	.	.	.	.	.	A	7.396	0.631799	0.14322	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.77750	-1.12;-1.12	5.71	4.56	0.56223	.	.	.	.	.	T	0.66694	0.2815	L	0.35542	1.07	0.09310	N	1	B	0.32918	0.39	B	0.34824	0.19	T	0.56469	-0.7974	9	0.36615	T	0.2	.	6.954	0.24560	0.7735:0.1495:0.077:0.0	.	968	A8TX70-2	.	T	968	ENSP00000390895:K968T;ENSP00000265379:K968T	ENSP00000265379:K968T	K	+	2	0	COL6A5	131593198	0.000000	0.05858	0.025000	0.17156	0.017000	0.09413	0.712000	0.25779	1.002000	0.39104	0.528000	0.53228	AAA	.	.		0.393	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
PIK3CB	5291	hgsc.bcm.edu	37	3	138478168	138478168	+	Silent	SNP	T	T	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr3:138478168T>G	ENST00000477593.1	-	2	91	c.18A>C	c.(16-18)atA>atC	p.I6I	PIK3CB_ENST00000289153.2_Silent_p.I6I			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	6					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CAGGAGGCATTATGAAACTGA	0.428																																					p.I6I		Atlas-SNP	.											.	PIK3CB	103	.	0			c.A18C						.						86.0	82.0	83.0					3																	138478168		2203	4300	6503	SO:0001819	synonymous_variant	5291	exon1			AGGCATTATGAAA		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.18A>C	chr3.hg19:g.138478168T>G		391.0	0.0		353.0	47.0	NM_006219	D3DNF0|Q24JU2	Silent	SNP	ENST00000477593.1	hg19	CCDS3104.1																																																																																			.	.		0.428	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1		
TRIM42	287015	hgsc.bcm.edu	37	3	140401718	140401718	+	Silent	SNP	C	C	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr3:140401718C>A	ENST00000286349.3	+	2	947	c.756C>A	c.(754-756)atC>atA	p.I252I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	252						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						AGCGCTGCATCACCTGCCGCC	0.622																																					p.I252I		Atlas-SNP	.											.	TRIM42	143	.	0			c.C756A						.						93.0	85.0	87.0					3																	140401718		2203	4300	6503	SO:0001819	synonymous_variant	287015	exon2			CTGCATCACCTGC	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.756C>A	chr3.hg19:g.140401718C>A		83.0	0.0		74.0	17.0	NM_152616	A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	hg19	CCDS3113.1																																																																																			.	.		0.622	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616	
KPNA4	3840	hgsc.bcm.edu	37	3	160233335	160233335	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr3:160233335T>C	ENST00000334256.4	-	12	1242	c.937A>G	c.(937-939)Act>Gct	p.T313A	SCARNA7_ENST00000458797.1_RNA	NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	313	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCAGTTCCAGTAACAATGTTG	0.388																																					p.T313A		Atlas-SNP	.											.	KPNA4	50	.	0			c.A937G						.						114.0	96.0	102.0					3																	160233335		2203	4300	6503	SO:0001583	missense	3840	exon12			TTCCAGTAACAAT	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.937A>G	chr3.hg19:g.160233335T>C	ENSP00000334373:p.Thr313Ala	271.0	0.0		258.0	95.0	NM_002268	A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	hg19	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.821722	0.90873	.	.	ENSG00000186432	ENST00000334256;ENST00000483437	T;T	0.29142	1.58;1.58	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60104	0.2243	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66320	-0.5953	10	0.87932	D	0	-5.4707	15.9896	0.80193	0.0:0.0:0.0:1.0	.	313	O00629	IMA4_HUMAN	A	313;18	ENSP00000334373:T313A;ENSP00000417172:T18A	ENSP00000334373:T313A	T	-	1	0	KPNA4	161716029	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.886000	0.87288	2.238000	0.73509	0.533000	0.62120	ACT	.	.		0.388	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268	
WFS1	7466	hgsc.bcm.edu	37	4	6303155	6303155	+	Missense_Mutation	SNP	G	G	A	rs201993978		TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr4:6303155G>A	ENST00000226760.1	+	8	1803	c.1633G>A	c.(1633-1635)Gtg>Atg	p.V545M	WFS1_ENST00000503569.1_Missense_Mutation_p.V545M	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	545					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGAGCTCTCCGTGGTCATCCT	0.612																																					p.V545M		Atlas-SNP	.											.	WFS1	71	.	0			c.G1633A						.						98.0	100.0	99.0					4																	6303155		2203	4300	6503	SO:0001583	missense	7466	exon8			CTCTCCGTGGTCA	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1633G>A	chr4.hg19:g.6303155G>A	ENSP00000226760:p.Val545Met	62.0	0.0		80.0	23.0	NM_001145853	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	hg19	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.516793	0.44763	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.84298	-1.83;-1.83	5.05	5.05	0.67936	.	0.140397	0.48767	D	0.000177	D	0.88347	0.6412	M	0.64997	1.995	0.49051	D	0.999749	D	0.63046	0.992	P	0.51945	0.685	D	0.89996	0.4111	10	0.87932	D	0	-22.9394	17.407	0.87476	0.0:0.0:1.0:0.0	.	545	O76024	WFS1_HUMAN	M	545	ENSP00000423337:V545M;ENSP00000226760:V545M	ENSP00000226760:V545M	V	+	1	0	WFS1	6354056	1.000000	0.71417	0.958000	0.39756	0.925000	0.55904	3.157000	0.50716	2.350000	0.79820	0.561000	0.74099	GTG	.	.		0.612	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1		
CPEB2	132864	hgsc.bcm.edu	37	4	15010011	15010011	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr4:15010011A>G	ENST00000507071.1	+	3	770	c.683A>G	c.(682-684)gAt>gGt	p.D228G	CPEB2_ENST00000382401.3_Intron|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000345451.3_Intron|CPEB2_ENST00000442003.2_Intron|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.D228G|CPEB2_ENST00000382395.3_Intron|CPEB2_ENST00000538197.1_Missense_Mutation_p.D665G|CPEB2_ENST00000541112.1_Missense_Mutation_p.D665G			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	228					cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TCACTCCAAGATAGTTGGTGC	0.423																																					p.D665G		Atlas-SNP	.											.	CPEB2	77	.	0			c.A1994G						.						81.0	75.0	77.0					4																	15010011		2203	4300	6503	SO:0001583	missense	132864	exon3			TCCAAGATAGTTG	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.683A>G	chr4.hg19:g.15010011A>G	ENSP00000424084:p.Asp228Gly	128.0	0.0		92.0	10.0	NM_001177382	E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	ENST00000507071.1	hg19		.	.	.	.	.	.	.	.	.	.	A	16.08	3.022779	0.54683	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000507071;ENST00000259997;ENST00000382391	T;T;T;T	0.52526	0.71;0.66;0.81;0.78	5.54	5.54	0.83059	.	0.406139	0.28052	N	0.016783	T	0.46268	0.1384	N	0.08118	0	0.80722	D	1	P;P	0.52577	0.954;0.924	D;P	0.67900	0.954;0.9	T	0.49960	-0.8883	10	0.36615	T	0.2	-18.8579	12.3385	0.55081	1.0:0.0:0.0:0.0	.	665;228	F5H160;Q7Z5Q1	.;CPEB2_HUMAN	G	665;665;228;228;207	ENSP00000443985:D665G;ENSP00000437884:D665G;ENSP00000424084:D228G;ENSP00000259997:D228G	ENSP00000259997:D228G	D	+	2	0	CPEB2	14619109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.243000	0.58721	2.223000	0.72356	0.460000	0.39030	GAT	.	.		0.423	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607	
SPATA18	132671	hgsc.bcm.edu	37	4	52928483	52928483	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr4:52928483A>G	ENST00000295213.4	+	4	781	c.407A>G	c.(406-408)aAc>aGc	p.N136S	SPATA18_ENST00000419395.2_Missense_Mutation_p.N136S|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	136					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGTCAATGCAACCAGGTTCAA	0.388																																					p.N136S		Atlas-SNP	.											.	SPATA18	222	.	0			c.A407G						.						87.0	88.0	88.0					4																	52928483		2203	4300	6503	SO:0001583	missense	132671	exon4			AATGCAACCAGGT	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.407A>G	chr4.hg19:g.52928483A>G	ENSP00000295213:p.Asn136Ser	132.0	0.0		136.0	13.0	NM_145263	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	hg19	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	A	3.682	-0.065392	0.07273	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	D;D	0.87729	-2.29;-2.29	5.05	1.28	0.21552	.	0.454305	0.27336	N	0.019834	T	0.73305	0.3570	L	0.31664	0.95	0.29843	N	0.829081	B;B;B	0.17667	0.002;0.002;0.023	B;B;B	0.12156	0.005;0.003;0.007	T	0.56998	-0.7886	10	0.17832	T	0.49	-20.2316	3.541	0.07811	0.5675:0.2121:0.2203:0.0	.	136;136;136	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	S	136	ENSP00000295213:N136S;ENSP00000415309:N136S	ENSP00000295213:N136S	N	+	2	0	SPATA18	52623240	0.956000	0.32656	0.989000	0.46669	0.250000	0.25880	0.254000	0.18314	0.389000	0.25086	-0.400000	0.06385	AAC	.	.		0.388	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263	
AASDH	132949	hgsc.bcm.edu	37	4	57250358	57250358	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr4:57250358C>G	ENST00000205214.6	-	2	288	c.108G>C	c.(106-108)aaG>aaC	p.K36N	AASDH_ENST00000602986.1_5'UTR|AASDH_ENST00000513376.1_Intron|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000451613.1_Missense_Mutation_p.K36N|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000502617.1_Missense_Mutation_p.K36N	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	36					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TAACCACAGTCTTGTAGGTGT	0.418																																					p.K36N		Atlas-SNP	.											.	AASDH	101	.	0			c.G108C						.						116.0	108.0	110.0					4																	57250358		2203	4300	6503	SO:0001583	missense	132949	exon2			CACAGTCTTGTAG	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.108G>C	chr4.hg19:g.57250358C>G	ENSP00000205214:p.Lys36Asn	319.0	0.0		298.0	42.0	NM_181806	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	hg19	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	9.580	1.123219	0.20959	.	.	ENSG00000157426	ENST00000205214;ENST00000451613;ENST00000502617	T;T;T	0.41758	0.99;0.99;0.99	5.92	2.22	0.28083	AMP-dependent synthetase/ligase (1);	0.828892	0.11719	N	0.536144	T	0.36524	0.0970	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.43352	0.804;0.551;0.804;0.734	P;B;B;P	0.45406	0.463;0.397;0.369;0.479	T	0.17258	-1.0375	10	0.30078	T	0.28	-0.4739	2.4899	0.04607	0.1199:0.4994:0.1168:0.2639	.	36;36;36;36	Q4L235-4;B4E2K0;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	N	36	ENSP00000205214:K36N;ENSP00000409656:K36N;ENSP00000421171:K36N	ENSP00000205214:K36N	K	-	3	2	AASDH	56945115	0.000000	0.05858	0.077000	0.20336	0.314000	0.28054	-1.302000	0.02746	0.398000	0.25338	-0.142000	0.14014	AAG	.	.		0.418	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	
TNIP3	79931	hgsc.bcm.edu	37	4	122078298	122078298	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr4:122078298T>A	ENST00000509841.1	-	7	623	c.545A>T	c.(544-546)gAg>gTg	p.E182V	TNIP3_ENST00000454328.1_Missense_Mutation_p.E105V|TNIP3_ENST00000057513.3_Missense_Mutation_p.E105V|TNIP3_ENST00000507879.1_Missense_Mutation_p.E175V	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CCTGTCGTCCTCTCTCTGCCT	0.637																																					p.E182V		Atlas-SNP	.											.	TNIP3	58	.	0			c.A545T						.						171.0	191.0	184.0					4																	122078298		2203	4300	6503	SO:0001583	missense	79931	exon7			TCGTCCTCTCTCT	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.545A>T	chr4.hg19:g.122078298T>A	ENSP00000426613:p.Glu182Val	75.0	0.0		85.0	18.0	NM_001244764		Missense_Mutation	SNP	ENST00000509841.1	hg19	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	T	7.750	0.703039	0.15172	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	0.69	0.69	0.18039	.	0.515844	0.18289	N	0.145765	T	0.64327	0.2588	M	0.70275	2.135	0.09310	N	1	P;P;B	0.47106	0.89;0.557;0.091	P;B;B	0.49332	0.607;0.125;0.027	T	0.57487	-0.7803	9	0.87932	D	0	0.0309	.	.	.	.	175;105;105	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	V	105;105;175;182	ENSP00000057513:E105V;ENSP00000411817:E105V;ENSP00000427106:E175V;ENSP00000426613:E182V	ENSP00000057513:E105V	E	-	2	0	TNIP3	122297748	0.002000	0.14202	0.034000	0.17996	0.025000	0.11179	0.286000	0.18902	0.531000	0.28639	0.164000	0.16699	GAG	.	.		0.637	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873	
FGA	2243	hgsc.bcm.edu	37	4	155510651	155510651	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr4:155510651C>T	ENST00000302053.3	-	2	196	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	FGA_ENST00000403106.3_Missense_Mutation_p.V40M	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	40					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TGTCTTTCCACAACCCTTGGG	0.498																																					p.V40M	NSCLC(143;340 1922 20892 22370 48145)	Atlas-SNP	.											.	FGA	179	.	0			c.G118A						.						156.0	147.0	150.0					4																	155510651		2203	4300	6503	SO:0001583	missense	2243	exon2			TTTCCACAACCCT		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.118G>A	chr4.hg19:g.155510651C>T	ENSP00000306361:p.Val40Met	71.0	0.0		70.0	26.0	NM_000508	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	hg19	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567440	0.45694	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	T;T	0.62639	0.01;2.48	5.58	1.92	0.25849	.	0.728598	0.13820	N	0.360495	T	0.53658	0.1810	L	0.53249	1.67	0.09310	N	0.999998	B;P;B	0.37207	0.068;0.587;0.451	B;B;B	0.38156	0.022;0.266;0.112	T	0.45600	-0.9250	10	0.49607	T	0.09	.	5.6402	0.17559	0.0:0.4921:0.2463:0.2617	.	40;40;40	A8K3E4;P02671-2;P02671	.;.;FIBA_HUMAN	M	40	ENSP00000306361:V40M;ENSP00000385981:V40M	ENSP00000306361:V40M	V	-	1	0	FGA	155730101	0.000000	0.05858	0.002000	0.10522	0.206000	0.24218	-0.762000	0.04745	0.306000	0.22856	0.650000	0.86243	GTG	.	.		0.498	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
GPR98	84059	hgsc.bcm.edu	37	5	89947508	89947508	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr5:89947508T>C	ENST00000405460.2	+	18	3473	c.3377T>C	c.(3376-3378)aTa>aCa	p.I1126T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1126	Calx-beta 9. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGGAGCCCATAGACAAAGCA	0.333																																					p.I1126T		Atlas-SNP	.											.	GPR98	605	.	0			c.T3377C						.						96.0	90.0	92.0					5																	89947508		1828	4083	5911	SO:0001583	missense	84059	exon18			AGCCCATAGACAA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3377T>C	chr5.hg19:g.89947508T>C	ENSP00000384582:p.Ile1126Thr	166.0	0.0		239.0	18.0	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582427	0.28180	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.26660	1.72	5.49	4.32	0.51571	.	0.457911	0.26510	N	0.023977	T	0.14614	0.0353	N	0.13098	0.295	0.28203	N	0.92725	B	0.15719	0.014	B	0.12837	0.008	T	0.13124	-1.0521	10	0.37606	T	0.19	.	9.0048	0.36104	0.0:0.2035:0.0:0.7965	.	1126	Q8WXG9	GPR98_HUMAN	T	1126	ENSP00000384582:I1126T	ENSP00000296619:I1126T	I	+	2	0	GPR98	89983264	0.952000	0.32445	0.998000	0.56505	0.962000	0.63368	1.743000	0.38258	0.916000	0.36871	0.482000	0.46254	ATA	.	.		0.333	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
APC	324	hgsc.bcm.edu	37	5	112175181	112175181	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr5:112175181A>G	ENST00000457016.1	+	16	4270	c.3890A>G	c.(3889-3891)gAt>gGt	p.D1297G	APC_ENST00000508376.2_Missense_Mutation_p.D1297G|APC_ENST00000257430.4_Missense_Mutation_p.D1297G|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1297	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.T1293fs*2(1)|p.D1297A(1)|p.D1297fs*3(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGGAAGCAGATTCTGCTAAT	0.398		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.D1297G	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	Atlas-SNP	.	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,NS,carcinoma,0,1	APC	4158	.	5	Deletion - Frameshift(3)|Substitution - Missense(1)|Unknown(1)	large_intestine(3)|soft_tissue(1)|skin(1)	c.A3890G						.						55.0	57.0	56.0					5																	112175181		2202	4300	6502	SO:0001583	missense	324	exon17	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	AAGCAGATTCTGC	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3890A>G	chr5.hg19:g.112175181A>G	ENSP00000413133:p.Asp1297Gly	217.0	0.0		469.0	42.0	NM_001127510	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	hg19	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	9.925	1.213292	0.22289	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.92048	-2.67;-2.67;-2.67;-2.96	5.73	4.54	0.55810	.	0.571888	0.19199	N	0.120224	D	0.84483	0.5482	N	0.19112	0.55	0.39800	D	0.97255	B;B	0.14805	0.011;0.011	B;B	0.15870	0.007;0.014	T	0.77643	-0.2511	9	.	.	.	-4.19	11.6759	0.51430	0.8577:0.0:0.0:0.1423	.	1299;1297	Q4LE70;P25054	.;APC_HUMAN	G	1297	ENSP00000413133:D1297G;ENSP00000257430:D1297G;ENSP00000427089:D1297G;ENSP00000423828:D1297G	.	D	+	2	0	APC	112203080	0.996000	0.38824	0.972000	0.41901	0.997000	0.91878	3.430000	0.52807	1.057000	0.40506	0.533000	0.62120	GAT	.	.		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
CXCL14	9547	hgsc.bcm.edu	37	5	134914200	134914200	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr5:134914200G>A	ENST00000337225.5	-	2	594	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	CTC-321K16.1_ENST00000514446.1_RNA|CTC-321K16.1_ENST00000509372.1_RNA|CXCL14_ENST00000512158.1_Missense_Mutation_p.P32S	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	44					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inner ear development (GO:0048839)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	chemokine activity (GO:0008009)			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGATCTTGGGTCCCTTCCGG	0.592																																					p.P44S		Atlas-SNP	.											.	CXCL14	13	.	0			c.C130T						.						139.0	131.0	134.0					5																	134914200		2203	4300	6503	SO:0001583	missense	9547	exon2			TCTTGGGTCCCTT	AF073957	CCDS4188.1	5q31	2010-04-30	2002-08-22	2002-08-23	ENSG00000145824	ENSG00000145824			10640	protein-coding gene	gene with protein product	"""breast and kidney"""	604186	"""small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK)"""	SCYB14		10049774	Standard	NM_004887		Approved	BRAK, NJAC, bolekine, Kec, MIP-2g, BMAC, KS1	uc003lay.3	O95715	OTTHUMG00000129139	ENST00000337225.5:c.130C>T	chr5.hg19:g.134914200G>A	ENSP00000337065:p.Pro44Ser	98.0	0.0		141.0	14.0	NM_004887	B3KQU8|Q6UW97|Q86U69|Q9BTR1|Q9NS21	Missense_Mutation	SNP	ENST00000337225.5	hg19	CCDS4188.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971161	0.92919	.	.	ENSG00000145824	ENST00000337225;ENST00000512158	T;T	0.04194	3.68;3.68	5.12	5.12	0.69794	Chemokine interleukin-8-like domain (2);	0.000000	0.85682	D	0.000000	T	0.18257	0.0438	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00154	-1.1981	10	0.72032	D	0.01	6.3574	16.7212	0.85410	0.0:0.0:1.0:0.0	.	44	O95715	CXL14_HUMAN	S	44;32	ENSP00000337065:P44S;ENSP00000423783:P32S	ENSP00000337065:P44S	P	-	1	0	CXCL14	134942099	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.488000	0.90458	2.380000	0.81148	0.591000	0.81541	CCC	.	.		0.592	CXCL14-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_004887	
PCDHGB1	56104	hgsc.bcm.edu	37	5	140730572	140730572	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr5:140730572C>G	ENST00000523390.1	+	1	745	c.745C>G	c.(745-747)Caa>Gaa	p.Q249E	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	249	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTAGCCTCCAAGAAAACGT	0.552																																					p.Q249E		Atlas-SNP	.											.	PCDHGB1	198	.	0			c.C745G						.						89.0	94.0	93.0					5																	140730572		2005	4179	6184	SO:0001583	missense	56104	exon1			AGCCTCCAAGAAA	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.745C>G	chr5.hg19:g.140730572C>G	ENSP00000429273:p.Gln249Glu	179.0	0.0		251.0	51.0	NM_018922	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	hg19	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	3.055	-0.194541	0.06259	.	.	ENSG00000254221	ENST00000523390	T	0.01685	4.69	5.58	3.66	0.41972	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01061	0.0035	N	0.02266	-0.62	0.09310	N	1	B;B	0.32101	0.356;0.271	B;B	0.33121	0.098;0.158	T	0.52593	-0.8555	9	0.34782	T	0.22	.	9.154	0.36980	0.462:0.4167:0.1212:0.0	.	249;249	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	E	249	ENSP00000429273:Q249E	ENSP00000429273:Q249E	Q	+	1	0	PCDHGB1	140710756	0.000000	0.05858	0.835000	0.33067	0.677000	0.39632	-1.989000	0.01480	1.464000	0.47987	0.563000	0.77884	CAA	.	.		0.552	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922	
DOCK2	1794	hgsc.bcm.edu	37	5	169502981	169502981	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr5:169502981C>T	ENST00000256935.8	+	47	4839	c.4759C>T	c.(4759-4761)Cat>Tat	p.H1587Y	DOCK2_ENST00000540750.1_Missense_Mutation_p.H648Y|DOCK2_ENST00000520908.1_Missense_Mutation_p.H1079Y|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1587	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATTAAGATCCATGAGAAAAG	0.532																																					p.H1587Y		Atlas-SNP	.											.	DOCK2	389	.	0			c.C4759T						.						155.0	159.0	157.0					5																	169502981		2203	4300	6503	SO:0001583	missense	1794	exon47			AAGATCCATGAGA	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4759C>T	chr5.hg19:g.169502981C>T	ENSP00000256935:p.His1587Tyr	131.0	0.0		223.0	35.0	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	hg19	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079518	0.94050	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.19938	2.11;2.11;2.11	5.18	5.18	0.71444	Cytochrome c domain (1);	0.057139	0.64402	D	0.000001	T	0.58104	0.2099	H	0.94620	3.56	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.973	P;D;P	0.64144	0.872;0.922;0.845	T	0.70963	-0.4729	10	0.62326	D	0.03	.	19.1283	0.93394	0.0:1.0:0.0:0.0	.	1079;143;1587	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	Y	1587;1079;648	ENSP00000256935:H1587Y;ENSP00000429283:H1079Y;ENSP00000438827:H648Y	ENSP00000256935:H1587Y	H	+	1	0	DOCK2	169435559	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.726000	0.84824	2.598000	0.87819	0.650000	0.86243	CAT	.	.		0.532	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
PPP1R10	5514	hgsc.bcm.edu	37	6	30569817	30569817	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr6:30569817T>A	ENST00000376511.2	-	19	3161	c.2609A>T	c.(2608-2610)cAt>cTt	p.H870L		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	870	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCGATGGTCATGGCCTCGGTG	0.677																																					p.H870L		Atlas-SNP	.											.	PPP1R10	60	.	0			c.A2609T						.						35.0	37.0	37.0					6																	30569817		1508	2707	4215	SO:0001583	missense	5514	exon19			TGGTCATGGCCTC	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2609A>T	chr6.hg19:g.30569817T>A	ENSP00000365694:p.His870Leu	102.0	0.0		137.0	20.0	NM_002714	O00405	Missense_Mutation	SNP	ENST00000376511.2	hg19	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	t	11.62	1.693019	0.30052	.	.	ENSG00000204569	ENST00000376511	T	0.48836	0.8	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000003	T	0.11367	0.0277	N	0.08118	0	0.29280	N	0.870096	B	0.14438	0.01	B	0.06405	0.002	T	0.11591	-1.0581	10	0.21014	T	0.42	-11.0005	11.9651	0.53029	0.0:0.0:0.0:1.0	.	870	Q96QC0	PP1RA_HUMAN	L	870	ENSP00000365694:H870L	ENSP00000365694:H870L	H	-	2	0	PPP1R10	30677796	0.998000	0.40836	0.998000	0.56505	0.983000	0.72400	1.724000	0.38064	1.986000	0.57962	0.398000	0.26397	CAT	.	.		0.677	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714	
TFEB	7942	hgsc.bcm.edu	37	6	41653841	41653841	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr6:41653841C>A	ENST00000230323.4	-	9	1239	c.938G>T	c.(937-939)tGg>tTg	p.W313L	TFEB_ENST00000373033.1_Missense_Mutation_p.W313L|AL035588.1_ENST00000597468.1_5'Flank|TFEB_ENST00000403298.4_Missense_Mutation_p.W313L|TFEB_ENST00000358871.2_Missense_Mutation_p.W327L|TFEB_ENST00000420312.1_Missense_Mutation_p.W228L	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	313	Leucine-zipper.				autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GATACGGAGCCAGAGCTGCTT	0.547			T	ALPHA	renal (childhood epithelioid)																																p.W327L		Atlas-SNP	.		Dom	yes		6	6p21	7942	transcription factor EB		"""E,M"""	.	TFEB	37	.	0			c.G980T						.						126.0	108.0	114.0					6																	41653841		2203	4300	6503	SO:0001583	missense	7942	exon8			CGGAGCCAGAGCT	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.938G>T	chr6.hg19:g.41653841C>A	ENSP00000230323:p.Trp313Leu	110.0	0.0		110.0	31.0	NM_001167827	Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	ENST00000230323.4	hg19	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	C	1.979	-0.434656	0.04669	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033	T;T;T;T;T;T;T	0.18657	2.2;2.2;2.23;2.22;2.23;2.2;2.23	4.91	3.05	0.35203	.	0.384607	0.28612	N	0.014736	T	0.01870	0.0059	N	0.01424	-0.875	0.35608	D	0.808435	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.001;0.002	T	0.44406	-0.9330	10	0.02654	T	1	-5.9744	13.2521	0.60057	0.5892:0.4108:0.0:0.0	.	327;313;228	B0QYS6;P19484;P19484-2	.;TFEB_HUMAN;.	L	171;399;313;327;313;228;313	ENSP00000383998:W171L;ENSP00000343948:W399L;ENSP00000230323:W313L;ENSP00000351742:W327L;ENSP00000384203:W313L;ENSP00000412551:W228L;ENSP00000362124:W313L	ENSP00000230323:W313L	W	-	2	0	TFEB	41761819	0.991000	0.36638	1.000000	0.80357	0.988000	0.76386	1.270000	0.33086	0.411000	0.25702	0.655000	0.94253	TGG	.	.		0.547	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3		
PRPH2	5961	hgsc.bcm.edu	37	6	42689615	42689615	+	Missense_Mutation	SNP	T	T	C	rs61755785		TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr6:42689615T>C	ENST00000230381.5	-	1	697	c.458A>G	c.(457-459)aAg>aGg	p.K153R		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	153			K -> R (in RP7).|Missing (in RP7).		cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GATGGTCTTCTTCATGAAACA	0.542																																					p.K153R		Atlas-SNP	.											.	PRPH2	47	.	0			c.A458G	GRCh37	CM941208	PRPH2	M	rs61755785	.						116.0	103.0	108.0					6																	42689615		2203	4300	6503	SO:0001583	missense	5961	exon1			GTCTTCTTCATGA		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.458A>G	chr6.hg19:g.42689615T>C	ENSP00000230381:p.Lys153Arg	105.0	0.0		132.0	16.0	NM_000322	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	hg19	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	T	32	5.118863	0.94385	.	.	ENSG00000112619	ENST00000230381	T	0.80123	-1.34	5.78	5.78	0.91487	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.88529	0.6461	M	0.81614	2.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89834	0.3998	10	0.66056	D	0.02	.	16.3979	0.83621	0.0:0.0:0.0:1.0	rs61755785	153	P23942	PRPH2_HUMAN	R	153	ENSP00000230381:K153R	ENSP00000230381:K153R	K	-	2	0	PRPH2	42797593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.927000	0.87577	2.333000	0.79357	0.533000	0.62120	AAG	.	.		0.542	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322	
CRIP3	401262	hgsc.bcm.edu	37	6	43276057	43276057	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr6:43276057G>T	ENST00000274990.4	-	2	138	c.134C>A	c.(133-135)gCa>gAa	p.A45E	CRIP3_ENST00000372569.3_Missense_Mutation_p.A45E|ZNF318_ENST00000607252.1_5'UTR			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	45	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TCTTACCTCTGCATGCCCGCC	0.627																																					p.A45E		Atlas-SNP	.											.	CRIP3	30	.	0			c.C134A						.						63.0	53.0	56.0					6																	43276057		2203	4300	6503	SO:0001583	missense	401262	exon2			ACCTCTGCATGCC	AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.134C>A	chr6.hg19:g.43276057G>T	ENSP00000274990:p.Ala45Glu	76.0	0.0		85.0	7.0	NM_206922	A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Missense_Mutation	SNP	ENST00000274990.4	hg19		.	.	.	.	.	.	.	.	.	.	G	27.6	4.847003	0.91277	.	.	ENSG00000146215	ENST00000372569;ENST00000274990	D;D	0.87809	-2.3;-2.3	5.15	5.15	0.70609	Zinc finger, LIM-type (4);	0.067071	0.56097	D	0.000024	D	0.93785	0.8013	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.93	D	0.94474	0.7687	10	0.87932	D	0	-15.5663	16.1532	0.81636	0.0:0.0:1.0:0.0	.	45;45	Q6Q6R5;Q6Q6R5-3	CRIP3_HUMAN;.	E	45	ENSP00000361650:A45E;ENSP00000274990:A45E	ENSP00000274990:A45E	A	-	2	0	CRIP3	43384035	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	8.794000	0.91867	2.664000	0.90586	0.561000	0.74099	GCA	.	.		0.627	CRIP3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000313968.1		
CD2AP	23607	hgsc.bcm.edu	37	6	47548615	47548615	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr6:47548615C>A	ENST00000359314.5	+	10	1480	c.1024C>A	c.(1024-1026)Cca>Aca	p.P342T		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	342	Pro-rich.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAAGAAACCACCACCTCCTGC	0.294																																					p.P342T		Atlas-SNP	.											.	CD2AP	43	.	0			c.C1024A						.						87.0	89.0	88.0					6																	47548615		2203	4298	6501	SO:0001583	missense	23607	exon10			AAACCACCACCTC	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1024C>A	chr6.hg19:g.47548615C>A	ENSP00000352264:p.Pro342Thr	436.0	0.0		442.0	47.0	NM_012120	A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	hg19	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607229	0.66558	.	.	ENSG00000198087	ENST00000359314	T	0.30448	1.53	5.42	4.55	0.56014	Src homology-3 domain (1);	0.098253	0.39146	U	0.001458	T	0.46483	0.1395	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.49476	-0.8936	10	0.34782	T	0.22	-3.8459	12.965	0.58480	0.0:0.9212:0.0:0.0788	.	342	Q9Y5K6	CD2AP_HUMAN	T	342	ENSP00000352264:P342T	ENSP00000352264:P342T	P	+	1	0	CD2AP	47656574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.258000	0.65479	1.428000	0.47296	0.650000	0.86243	CCA	.	.		0.294	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2		
RAB23	51715	hgsc.bcm.edu	37	6	57059644	57059644	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr6:57059644T>A	ENST00000317483.3	-	5	1024	c.405A>T	c.(403-405)gaA>gaT	p.E135D	RAB23_ENST00000468148.1_Missense_Mutation_p.E135D	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	135					autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GTGCCTCAGCTTCCTCACTGC	0.308																																					p.E135D		Atlas-SNP	.											.	RAB23	22	.	0			c.A405T						.						76.0	71.0	72.0					6																	57059644		2202	4295	6497	SO:0001583	missense	51715	exon5			CTCAGCTTCCTCA	AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"""RAB, member RAS oncogene"""	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.405A>T	chr6.hg19:g.57059644T>A	ENSP00000320413:p.Glu135Asp	203.0	0.0		220.0	68.0	NM_016277	B2R9I5|Q68DJ6|Q8NI06|Q9P023	Missense_Mutation	SNP	ENST00000317483.3	hg19	CCDS4962.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.439709	0.63067	.	.	ENSG00000112210	ENST00000317483;ENST00000468148	T;T	0.79033	-1.23;-1.23	5.89	2.16	0.27623	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	L	0.53780	1.695	0.54753	D	0.999988	B	0.28291	0.206	B	0.31337	0.128	T	0.52426	-0.8577	10	0.37606	T	0.19	-2.4056	9.4955	0.38986	0.0:0.2903:0.0:0.7097	.	135	Q9ULC3	RAB23_HUMAN	D	135	ENSP00000320413:E135D;ENSP00000417610:E135D	ENSP00000320413:E135D	E	-	3	2	RAB23	57167603	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.910000	0.28571	0.138000	0.18790	0.528000	0.53228	GAA	.	.		0.308	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1		
USP45	85015	hgsc.bcm.edu	37	6	99885203	99885203	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr6:99885203C>G	ENST00000327681.6	-	17	2765	c.2233G>C	c.(2233-2235)Ggc>Cgc	p.G745R	USP45_ENST00000539675.1_Missense_Mutation_p.G38R|USP45_ENST00000392738.2_Missense_Mutation_p.G425R|USP45_ENST00000369233.2_Missense_Mutation_p.G697R|USP45_ENST00000500704.2_Missense_Mutation_p.G745R	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	745	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GTGTAGTGGCCTTCTCTCATC	0.393																																					p.G745R		Atlas-SNP	.											.	USP45	56	.	0			c.G2233C						.						118.0	107.0	111.0					6																	99885203		2203	4300	6503	SO:0001583	missense	85015	exon17			AGTGGCCTTCTCT	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2233G>C	chr6.hg19:g.99885203C>G	ENSP00000333376:p.Gly745Arg	113.0	0.0		157.0	64.0	NM_001080481	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	hg19	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014970	0.75161	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000539675;ENST00000369233	D;T;T;D;D	0.85629	-2.01;0.42;0.42;-2.01;-2.01	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.95449	0.8522	H	0.97265	3.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96629	0.9465	10	0.87932	D	0	.	19.7072	0.96079	0.0:1.0:0.0:0.0	.	745;425	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	R	425;745;745;38;697	ENSP00000376495:G425R;ENSP00000424372:G745R;ENSP00000333376:G745R;ENSP00000439569:G38R;ENSP00000358236:G697R	ENSP00000333376:G745R	G	-	1	0	USP45	99991924	1.000000	0.71417	0.999000	0.59377	0.134000	0.20937	7.329000	0.79170	2.662000	0.90505	0.591000	0.81541	GGC	.	.		0.393	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929	
NMBR	4829	hgsc.bcm.edu	37	6	142396877	142396877	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr6:142396877G>A	ENST00000258042.1	-	3	1221	c.1081C>T	c.(1081-1083)Cgt>Tgt	p.R361C	NMBR_ENST00000480652.1_Intron	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	361					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GATGTCATACGCACCGCTGAA	0.473																																					p.R361C		Atlas-SNP	.											.	NMBR	62	.	0			c.C1081T						.						126.0	115.0	119.0					6																	142396877		2203	4300	6503	SO:0001583	missense	4829	exon3			TCATACGCACCGC		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.1081C>T	chr6.hg19:g.142396877G>A	ENSP00000258042:p.Arg361Cys	136.0	0.0		150.0	22.0	NM_002511	E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	hg19	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116013	0.37339	.	.	ENSG00000135577	ENST00000258042	T	0.69926	-0.44	5.28	3.31	0.37934	.	0.317119	0.34338	N	0.004056	T	0.43897	0.1268	L	0.41961	1.31	0.58432	D	0.999994	B	0.15930	0.015	B	0.13407	0.009	T	0.49624	-0.8920	10	0.46703	T	0.11	-1.0378	13.7386	0.62833	0.0:0.0:0.7121:0.2879	.	361	P28336	NMBR_HUMAN	C	361	ENSP00000258042:R361C	ENSP00000258042:R361C	R	-	1	0	NMBR	142438570	1.000000	0.71417	0.836000	0.33094	0.908000	0.53690	3.094000	0.50227	1.293000	0.44690	0.655000	0.94253	CGT	.	.		0.473	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1		
ADAP1	11033	hgsc.bcm.edu	37	7	959636	959636	+	Silent	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:959636G>A	ENST00000265846.5	-	4	576	c.357C>T	c.(355-357)atC>atT	p.I119I	ADAP1_ENST00000449296.2_Silent_p.I47I|ADAP1_ENST00000463358.1_5'UTR|ADAP1_ENST00000539900.1_Silent_p.I130I	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	119	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						TCTCCGGGTAGATGAACTCCT	0.677																																					p.I119I		Atlas-SNP	.											.	ADAP1	23	.	0			c.C357T						.						39.0	36.0	37.0					7																	959636		2200	4297	6497	SO:0001819	synonymous_variant	11033	exon4			CGGGTAGATGAAC	AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16486	protein-coding gene	gene with protein product		608114	"""centaurin, alpha 1"""	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.357C>T	chr7.hg19:g.959636G>A		24.0	0.0		37.0	13.0	NM_006869	A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Silent	SNP	ENST00000265846.5	hg19	CCDS5318.1	.	.	.	.	.	.	.	.	.	.	G	0.972	-0.699933	0.03279	.	.	ENSG00000105963	ENST00000446141;ENST00000437486;ENST00000453823	.	.	.	4.53	-7.15	0.01521	.	.	.	.	.	T	0.19287	0.0463	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.31447	-0.9943	4	.	.	.	-4.6985	5.5999	0.17347	0.1558:0.5072:0.2331:0.1038	.	.	.	.	F	102;53;62	.	.	S	-	2	0	ADAP1	926162	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.117000	0.10708	-1.009000	0.03400	0.549000	0.68633	TCT	.	.		0.677	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869	
ZNF680	340252	hgsc.bcm.edu	37	7	63982713	63982713	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:63982713T>G	ENST00000309683.6	-	4	570	c.419A>C	c.(418-420)aAt>aCt	p.N140T	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GTTAAGTTCATTATAACCTTC	0.308																																					p.N140T		Atlas-SNP	.											.	ZNF680	58	.	0			c.A419C						.						58.0	61.0	60.0					7																	63982713		2203	4291	6494	SO:0001583	missense	340252	exon4			AGTTCATTATAAC	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.419A>C	chr7.hg19:g.63982713T>G	ENSP00000309330:p.Asn140Thr	190.0	0.0		213.0	47.0	NM_178558	B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	hg19	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	t	6.507	0.461751	0.12342	.	.	ENSG00000173041	ENST00000309683	T	0.04917	3.53	1.09	1.09	0.20402	.	.	.	.	.	T	0.09202	0.0227	M	0.80028	2.48	0.09310	N	1	B	0.30914	0.3	B	0.29077	0.098	T	0.24941	-1.0146	9	0.62326	D	0.03	.	4.2287	0.10592	0.0:0.0:0.0:1.0	.	140	Q8NEM1	ZN680_HUMAN	T	140	ENSP00000309330:N140T	ENSP00000309330:N140T	N	-	2	0	ZNF680	63620148	0.000000	0.05858	0.068000	0.19968	0.064000	0.16182	0.197000	0.17197	0.413000	0.25759	0.402000	0.26972	AAT	.	.		0.308	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558	
RHBDD2	57414	hgsc.bcm.edu	37	7	75511209	75511209	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:75511209A>G	ENST00000006777.6	+	2	376	c.241A>G	c.(241-243)Atc>Gtc	p.I81V	RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_5'Flank	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	81						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						CTGCGGCGCTATCATCATCTG	0.557																																					p.I81V		Atlas-SNP	.											.	RHBDD2	49	.	0			c.A241G						.						113.0	120.0	118.0					7																	75511209		2066	4215	6281	SO:0001583	missense	57414	exon2			GGCGCTATCATCA	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.241A>G	chr7.hg19:g.75511209A>G	ENSP00000006777:p.Ile81Val	123.0	0.0		135.0	27.0	NM_001040456	Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Missense_Mutation	SNP	ENST00000006777.6	hg19	CCDS43602.1	.	.	.	.	.	.	.	.	.	.	A	7.510	0.654450	0.14580	.	.	ENSG00000005486	ENST00000006777;ENST00000413229	T	0.13538	2.58	5.5	-3.23	0.05109	Peptidase S54, rhomboid domain (1);	0.877863	0.10021	N	0.725943	T	0.04634	0.0126	N	0.03608	-0.345	0.27211	N	0.959908	B	0.02656	0.0	B	0.06405	0.002	T	0.45948	-0.9226	10	0.15952	T	0.53	-9.5901	7.6913	0.28569	0.1651:0.4177:0.4171:0.0	.	81	Q6NTF9	RHBD2_HUMAN	V	81;126	ENSP00000006777:I81V	ENSP00000006777:I81V	I	+	1	0	RHBDD2	75349145	0.000000	0.05858	0.031000	0.17742	0.787000	0.44495	-0.513000	0.06305	-0.476000	0.06842	-0.371000	0.07208	ATC	.	.		0.557	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684	
PHTF2	57157	hgsc.bcm.edu	37	7	77549626	77549626	+	Silent	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:77549626A>G	ENST00000248550.7	+	9	883	c.807A>G	c.(805-807)aaA>aaG	p.K269K	PHTF2_ENST00000450574.1_Silent_p.K235K|PHTF2_ENST00000422959.2_Silent_p.K235K|PHTF2_ENST00000416283.2_Silent_p.K235K|PHTF2_ENST00000275575.7_Silent_p.K231K|PHTF2_ENST00000424760.1_Silent_p.K231K|PHTF2_ENST00000307305.8_Silent_p.K231K|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000415251.2_Silent_p.K231K			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CAATTGATAAATCAACTGAAA	0.323																																					p.K235K		Atlas-SNP	.											.	PHTF2	104	.	0			c.A705G						.						50.0	47.0	48.0					7																	77549626		1827	4077	5904	SO:0001819	synonymous_variant	57157	exon8			TGATAAATCAACT	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.807A>G	chr7.hg19:g.77549626A>G		101.0	0.0		118.0	25.0	NM_001127359	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	hg19																																																																																				.	.		0.323	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432	
CD36	948	hgsc.bcm.edu	37	7	80276132	80276132	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:80276132C>G	ENST00000435819.1	+	6	760	c.76C>G	c.(76-78)Cta>Gta	p.L26V	CD36_ENST00000309881.7_Missense_Mutation_p.L26V|CD36_ENST00000441109.2_3'UTR|CD36_ENST00000538969.1_Missense_Mutation_p.L26V|CD36_ENST00000447544.2_Missense_Mutation_p.L26V|CD36_ENST00000433696.2_Missense_Mutation_p.L26V|CD36_ENST00000534394.1_Intron|CD36_ENST00000544133.1_Missense_Mutation_p.L26V|CD36_ENST00000394788.3_Missense_Mutation_p.L26V|CD36_ENST00000432207.1_Missense_Mutation_p.L26V			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	26					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGGAGGTATTCTAATGCCAGT	0.438																																					p.L26V		Atlas-SNP	.											CD36_ENST00000447544,colon,carcinoma,0,4	CD36	185	.	0			c.C76G						.						197.0	182.0	187.0					7																	80276132		2203	4300	6503	SO:0001583	missense	948	exon1			GGTATTCTAATGC	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.76C>G	chr7.hg19:g.80276132C>G	ENSP00000399421:p.Leu26Val	174.0	0.0		164.0	27.0	NM_001127444	D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	hg19	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888412	0.72524	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000438020;ENST00000436384;ENST00000428497;ENST00000482059;ENST00000394788;ENST00000447544;ENST00000426978;ENST00000432207;ENST00000413265;ENST00000419819;ENST00000538969;ENST00000544133;ENST00000433696	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.82472	0.5044	M	0.66297	2.02	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.82018	-0.0665	9	.	.	.	-13.3208	16.194	0.82011	0.0:1.0:0.0:0.0	.	26	P16671	CD36_HUMAN	V	26	ENSP00000399421:L26V;ENSP00000308165:L26V;ENSP00000410371:L26V;ENSP00000398760:L26V;ENSP00000409762:L26V;ENSP00000433659:L26V;ENSP00000378268:L26V;ENSP00000415743:L26V;ENSP00000416388:L26V;ENSP00000411411:L26V;ENSP00000407690:L26V;ENSP00000392298:L26V;ENSP00000439543:L26V;ENSP00000441956:L26V;ENSP00000401863:L26V	.	L	+	1	2	CD36	80114068	0.995000	0.38212	0.747000	0.31113	0.830000	0.47004	2.939000	0.48995	2.552000	0.86080	0.655000	0.94253	CTA	.	.		0.438	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547	
PCLO	27445	hgsc.bcm.edu	37	7	82584346	82584346	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:82584346T>C	ENST00000333891.9	-	5	6260	c.5923A>G	c.(5923-5925)Aca>Gca	p.T1975A	PCLO_ENST00000423517.2_Missense_Mutation_p.T1975A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTGCCTTGTTAGCAGACTG	0.363																																					p.T1975A		Atlas-SNP	.											.	PCLO	1506	.	0			c.A5923G						.						116.0	119.0	118.0					7																	82584346		1877	4102	5979	SO:0001583	missense	27445	exon5			GCCTTGTTAGCAG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5923A>G	chr7.hg19:g.82584346T>C	ENSP00000334319:p.Thr1975Ala	136.0	0.0		155.0	31.0	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	2.254	-0.370838	0.05034	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15718	2.4;2.4	5.57	-0.861	0.10676	.	.	.	.	.	T	0.09642	0.0237	N	0.16478	0.41	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.006	T	0.31833	-0.9929	9	0.87932	D	0	.	6.0348	0.19702	0.0:0.2705:0.1251:0.6044	.	1975;1975	Q9Y6V0-5;Q9Y6V0-6	.;.	A	1906;1975;1975	ENSP00000334319:T1975A;ENSP00000388393:T1975A	ENSP00000334319:T1975A	T	-	1	0	PCLO	82422282	0.000000	0.05858	0.025000	0.17156	0.559000	0.35586	-0.151000	0.10175	-0.140000	0.11394	0.533000	0.62120	ACA	.	.		0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	hgsc.bcm.edu	37	7	82584348	82584348	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:82584348A>G	ENST00000333891.9	-	5	6258	c.5921T>C	c.(5920-5922)cTa>cCa	p.L1974P	PCLO_ENST00000423517.2_Missense_Mutation_p.L1974P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCCTTGTTAGCAGACTGCC	0.358																																					p.L1974P		Atlas-SNP	.											.	PCLO	1506	.	0			c.T5921C						.						115.0	117.0	117.0					7																	82584348		1877	4099	5976	SO:0001583	missense	27445	exon5			CTTGTTAGCAGAC	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5921T>C	chr7.hg19:g.82584348A>G	ENSP00000334319:p.Leu1974Pro	138.0	0.0		153.0	30.0	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	1.252	-0.618246	0.03663	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17213	2.29;2.29	5.57	4.34	0.51931	.	.	.	.	.	T	0.16300	0.0392	L	0.36672	1.1	0.09310	N	0.999999	P;P	0.48503	0.911;0.911	P;P	0.44811	0.461;0.461	T	0.11446	-1.0587	9	0.87932	D	0	.	7.4764	0.27378	0.8009:0.0:0.0712:0.1279	.	1974;1974	Q9Y6V0-5;Q9Y6V0-6	.;.	P	1905;1974;1974	ENSP00000334319:L1974P;ENSP00000388393:L1974P	ENSP00000334319:L1974P	L	-	2	0	PCLO	82422284	0.003000	0.15002	0.755000	0.31263	0.554000	0.35429	1.891000	0.39738	2.116000	0.64780	0.533000	0.62120	CTA	.	.		0.358	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
ADAM22	53616	hgsc.bcm.edu	37	7	87780310	87780310	+	Silent	SNP	T	T	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:87780310T>A	ENST00000265727.7	+	19	1660	c.1581T>A	c.(1579-1581)atT>atA	p.I527I	ADAM22_ENST00000398209.3_Silent_p.I527I|ADAM22_ENST00000398201.4_Silent_p.I527I|ADAM22_ENST00000398204.4_Silent_p.I527I|ADAM22_ENST00000315984.7_Silent_p.I527I			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	527	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CCCCTAATATTCATAAAATGG	0.338																																					p.I527I		Atlas-SNP	.											.	ADAM22	280	.	0			c.T1581A						.						198.0	184.0	188.0					7																	87780310		1836	4082	5918	SO:0001819	synonymous_variant	53616	exon19			TAATATTCATAAA	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1581T>A	chr7.hg19:g.87780310T>A		155.0	0.0		210.0	21.0	NM_021722	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	hg19	CCDS47637.1																																																																																			.	.		0.338	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	
RELN	5649	hgsc.bcm.edu	37	7	103155875	103155875	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:103155875G>C	ENST00000428762.1	-	50	8035	c.7876C>G	c.(7876-7878)Ctt>Gtt	p.L2626V	RELN_ENST00000424685.2_Missense_Mutation_p.L2626V|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.L2626V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2626					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAGGGAGAAGGATATTCACA	0.468																																					p.L2626V	NSCLC(146;835 1944 15585 22231 52158)	Atlas-SNP	.											.	RELN	593	.	0			c.C7876G						.						46.0	49.0	48.0					7																	103155875		2203	4300	6503	SO:0001583	missense	5649	exon50			GGAGAAGGATATT		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7876C>G	chr7.hg19:g.103155875G>C	ENSP00000392423:p.Leu2626Val	61.0	0.0		95.0	46.0	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783825	0.49891	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.24151	1.87;1.87;1.87	5.12	5.12	0.69794	Neuraminidase (2);	0.063695	0.64402	D	0.000005	T	0.24470	0.0593	L	0.36672	1.1	0.51012	D	0.999906	B;B	0.15473	0.013;0.004	B;B	0.24006	0.05;0.016	T	0.04090	-1.0978	10	0.21540	T	0.41	.	18.7499	0.91810	0.0:0.0:1.0:0.0	.	2626;2626	P78509-2;P78509	.;RELN_HUMAN	V	2626;2626;2626;143;2626	ENSP00000392423:L2626V;ENSP00000345694:L2626V;ENSP00000388446:L2626V	ENSP00000345694:L2626V	L	-	1	0	RELN	102943111	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.381000	0.79718	2.647000	0.89833	0.643000	0.83706	CTT	.	.		0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
ATXN7L1	222255	hgsc.bcm.edu	37	7	105260694	105260694	+	Silent	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:105260694G>A	ENST00000419735.3	-	9	1515	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	ATXN7L1_ENST00000388807.4_Silent_p.F48F|ATXN7L1_ENST00000477775.1_Silent_p.F366F|ATXN7L1_ENST00000472910.1_5'UTR	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	490										endometrium(1)|large_intestine(4)|lung(5)	10						AGTTTAGTGCGAATCGAAAAC	0.408																																					p.F490F		Atlas-SNP	.											ATXN7L1_ENST00000419735,NS,carcinoma,0,1	ATXN7L1	56	.	0			c.C1470T						.						164.0	126.0	138.0					7																	105260694		692	1591	2283	SO:0001819	synonymous_variant	222255	exon9			TAGTGCGAATCGA	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.1470C>T	chr7.hg19:g.105260694G>A		170.0	1.0		228.0	38.0	NM_020725	A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	ENST00000419735.3	hg19	CCDS47682.1																																																																																			.	.		0.408	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2		
GPR22	2845	hgsc.bcm.edu	37	7	107115516	107115516	+	Silent	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:107115516A>G	ENST00000304402.4	+	3	2354	c.1011A>G	c.(1009-1011)ttA>ttG	p.L337L	COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	337					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						CCACCATTTTATGTTTAGGCC	0.328																																					p.L337L		Atlas-SNP	.											.	GPR22	43	.	0			c.A1011G						.						92.0	95.0	94.0					7																	107115516		2203	4299	6502	SO:0001819	synonymous_variant	2845	exon3			CATTTTATGTTTA	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.1011A>G	chr7.hg19:g.107115516A>G		297.0	0.0		392.0	33.0	NM_005295	O14554	Silent	SNP	ENST00000304402.4	hg19	CCDS5744.1																																																																																			.	.		0.328	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1		
ZNF800	168850	hgsc.bcm.edu	37	7	127014269	127014269	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:127014269A>G	ENST00000393313.1	-	5	1712	c.1121T>C	c.(1120-1122)cTt>cCt	p.L374P	ZNF800_ENST00000393312.1_Missense_Mutation_p.L374P|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.L374P			Q2TB10	ZN800_HUMAN	zinc finger protein 800	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ATGTCTTTTAAGCATTATTTG	0.328																																					p.L374P		Atlas-SNP	.											.	ZNF800	78	.	0			c.T1121C						.						90.0	96.0	94.0					7																	127014269		2203	4299	6502	SO:0001583	missense	168850	exon5			CTTTTAAGCATTA	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1121T>C	chr7.hg19:g.127014269A>G	ENSP00000376989:p.Leu374Pro	119.0	0.0		140.0	32.0	NM_176814	Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	hg19	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.576874	0.45902	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.42900	0.96;0.96;0.96	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000001	T	0.49064	0.1535	N	0.19112	0.55	0.35601	D	0.807858	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53556	-0.8422	8	.	.	.	-0.3006	15.1137	0.72380	1.0:0.0:0.0:0.0	.	277;374	B7Z4V7;Q2TB10	.;ZN800_HUMAN	P	374	ENSP00000376989:L374P;ENSP00000265827:L374P;ENSP00000376988:L374P	.	L	-	2	0	ZNF800	126801505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.447000	0.90332	2.169000	0.68431	0.528000	0.53228	CTT	.	.		0.328	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814	
TRPV5	56302	hgsc.bcm.edu	37	7	142605697	142605697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:142605697C>A	ENST00000265310.1	-	15	2521	c.2173G>T	c.(2173-2175)Gag>Tag	p.E725*		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	725	Involved in Ca(2+)-dependent inactivation. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGGTAGACCTCCTCTCCATCC	0.557																																					p.E725X		Atlas-SNP	.											.	TRPV5	164	.	0			c.G2173T						.						114.0	108.0	110.0					7																	142605697		2203	4300	6503	SO:0001587	stop_gained	56302	exon15			AGACCTCCTCTCC	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.2173G>T	chr7.hg19:g.142605697C>A	ENSP00000265310:p.Glu725*	187.0	0.0		254.0	35.0	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Nonsense_Mutation	SNP	ENST00000265310.1	hg19	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139200	0.56936	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	.	.	.	4.99	4.99	0.66335	.	0.563480	0.18473	N	0.140160	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-21.222	15.5865	0.76489	0.0:1.0:0.0:0.0	.	.	.	.	X	725;670	.	ENSP00000265310:E725X	E	-	1	0	TRPV5	142315819	0.999000	0.42202	0.979000	0.43373	0.166000	0.22503	2.606000	0.46291	2.615000	0.88500	0.655000	0.94253	GAG	.	.		0.557	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
TRPV5	56302	hgsc.bcm.edu	37	7	142627485	142627485	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:142627485C>A	ENST00000265310.1	-	2	533	c.185G>T	c.(184-186)aGg>aTg	p.R62M	TRPV5_ENST00000442623.1_Missense_Mutation_p.R62M	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	62					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TAGAAGTTGCCTAAGAACAGA	0.512																																					p.R62M		Atlas-SNP	.											.	TRPV5	164	.	0			c.G185T						.						193.0	157.0	169.0					7																	142627485		2203	4300	6503	SO:0001583	missense	56302	exon2			AGTTGCCTAAGAA	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.185G>T	chr7.hg19:g.142627485C>A	ENSP00000265310:p.Arg62Met	115.0	0.0		176.0	27.0	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	hg19	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	4.871	0.161845	0.09287	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.66815	0.55;-0.23;-0.22	4.56	0.491	0.16867	Ankyrin repeat-containing domain (3);	0.510188	0.22932	N	0.053884	T	0.55386	0.1917	L	0.53729	1.69	0.09310	N	1	B;B	0.16802	0.004;0.019	B;B	0.19666	0.026;0.012	T	0.48163	-0.9059	10	0.46703	T	0.11	-11.3004	5.9427	0.19201	0.0:0.3648:0.1385:0.4967	.	62;62	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	M	62;56;62	ENSP00000265310:R62M;ENSP00000406361:R56M;ENSP00000406572:R62M	ENSP00000265310:R62M	R	-	2	0	TRPV5	142337607	1.000000	0.71417	0.009000	0.14445	0.477000	0.33069	0.903000	0.28475	-0.003000	0.14444	-0.253000	0.11424	AGG	.	.		0.512	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
MTUS1	57509	hgsc.bcm.edu	37	8	17612099	17612099	+	Silent	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr8:17612099G>A	ENST00000262102.6	-	2	1442	c.1218C>T	c.(1216-1218)ggC>ggT	p.G406G	MTUS1_ENST00000381862.3_Silent_p.G406G|MTUS1_ENST00000519263.1_Silent_p.G406G|MTUS1_ENST00000381869.3_Silent_p.G406G	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	406					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CAAATGACGAGCCCACCTTTT	0.443																																					p.G406G		Atlas-SNP	.											.	MTUS1	144	.	0			c.C1218T						.						77.0	73.0	74.0					8																	17612099		1874	4105	5979	SO:0001819	synonymous_variant	57509	exon2			TGACGAGCCCACC	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1218C>T	chr8.hg19:g.17612099G>A		104.0	0.0		85.0	51.0	NM_001001924	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	hg19	CCDS43717.1																																																																																			.	.		0.443	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
WRN	7486	hgsc.bcm.edu	37	8	30958398	30958398	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr8:30958398G>A	ENST00000298139.5	+	18	2264	c.2015G>A	c.(2014-2016)tGt>tAt	p.C672Y		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	672	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAGGCTCACTGTATTTCTGAG	0.418			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												p.C672Y	Ovarian(18;161 598 2706 14834 27543)	Atlas-SNP	.	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	.	WRN	116	.	0			c.G2015A						.						98.0	90.0	93.0					8																	30958398		2203	4300	6503	SO:0001583	missense	7486	exon18	Familial Cancer Database	WS, Adult Progeria	CTCACTGTATTTC		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2015G>A	chr8.hg19:g.30958398G>A	ENSP00000298139:p.Cys672Tyr	110.0	0.0		61.0	16.0	NM_000553	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	hg19	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388669	0.82902	.	.	ENSG00000165392	ENST00000298139	T	0.04862	3.54	5.74	5.74	0.90152	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64812	-0.6319	10	0.87932	D	0	-16.1922	19.5086	0.95132	0.0:0.0:1.0:0.0	.	82;672	Q59F09;Q14191	.;WRN_HUMAN	Y	672	ENSP00000298139:C672Y	ENSP00000298139:C672Y	C	+	2	0	WRN	31077940	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.345000	0.79337	2.711000	0.92665	0.591000	0.81541	TGT	.	.		0.418	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1		
KAT6A	7994	hgsc.bcm.edu	37	8	41905925	41905925	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr8:41905925C>A	ENST00000396930.3	-	3	1114	c.571G>T	c.(571-573)Gtg>Ttg	p.V191L	KAT6A_ENST00000265713.2_Missense_Mutation_p.V191L|KAT6A_ENST00000485568.1_Missense_Mutation_p.V191L|KAT6A_ENST00000406337.1_Missense_Mutation_p.V191L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	191	Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AGAAGGGACACTGGAGGTAAA	0.438																																					p.V191L		Atlas-SNP	.											.	.	.	.	0			c.G571T						.						92.0	90.0	91.0					8																	41905925		2203	4300	6503	SO:0001583	missense	7994	exon3			GGGACACTGGAGG	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.571G>T	chr8.hg19:g.41905925C>A	ENSP00000380136:p.Val191Leu	207.0	0.0		262.0	23.0	NM_001099412	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	hg19	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293843	0.40594	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84442	0.17;0.17;0.17;-1.85	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000010	D	0.90590	0.7050	M	0.63428	1.95	0.49687	D	0.99981	D;P	0.63880	0.993;0.894	P;B	0.60415	0.874;0.437	D	0.90878	0.4751	10	0.66056	D	0.02	-25.9317	19.6363	0.95735	0.0:1.0:0.0:0.0	.	191;191	A5PLL3;Q92794	.;KAT6A_HUMAN	L	191	ENSP00000265713:V191L;ENSP00000385888:V191L;ENSP00000380136:V191L;ENSP00000430606:V191L	ENSP00000265713:V191L	V	-	1	0	KAT6A	42025082	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.681000	0.68175	2.711000	0.92665	0.655000	0.94253	GTG	.	.		0.438	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
PRKDC	5591	hgsc.bcm.edu	37	8	48774689	48774689	+	Splice_Site	SNP	C	C	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr8:48774689C>A	ENST00000523565.1	-	44	5975		c.e44-1		PRKDC_ENST00000314191.2_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TAAGCAAGTTCTGTGAATACA	0.313								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)	Atlas-SNP	.											.	PRKDC	394	.	0			c.5919-1G>T						.						37.0	33.0	34.0					8																	48774689		1779	3994	5773	SO:0001630	splice_region_variant	5591	exon45			CAAGTTCTGTGAA		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.7534-1G>T	chr8.hg19:g.48774689C>A		99.0	0.0		114.0	12.0	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	ENST00000523565.1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.1	3.938988	0.73557	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.88	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0808	0.72113	0.0:0.9322:0.0:0.0678	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	48937242	1.000000	0.71417	0.993000	0.49108	0.923000	0.55619	5.282000	0.65615	1.497000	0.48584	0.655000	0.94253	.	.	.		0.313	PRKDC-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000377896.1	NM_001081640	Intron
CPQ	10404	hgsc.bcm.edu	37	8	97797311	97797311	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr8:97797311A>C	ENST00000220763.5	+	2	396	c.186A>C	c.(184-186)agA>agC	p.R62S		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	62					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										CCCAGAACAGATCCTATGAGC	0.423																																					p.R62S		Atlas-SNP	.											.	.	.	.	0			c.A186C						.						122.0	115.0	117.0					8																	97797311		2203	4300	6503	SO:0001583	missense	10404	exon2			GAACAGATCCTAT	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.186A>C	chr8.hg19:g.97797311A>C	ENSP00000220763:p.Arg62Ser	210.0	0.0		377.0	140.0	NM_016134	B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	hg19	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.411129	0.42817	.	.	ENSG00000104324	ENST00000220763;ENST00000519900;ENST00000517742;ENST00000519484;ENST00000521142	T;T	0.42131	0.98;0.99	5.28	0.0485	0.14285	.	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	L	0.41906	1.305	0.41131	D	0.985882	B;B	0.29612	0.138;0.251	B;B	0.24155	0.04;0.051	T	0.10636	-1.0621	10	0.12430	T	0.62	-7.4447	8.6913	0.34269	0.644:0.0:0.356:0.0	.	62;62	B5MDX4;Q9Y646	.;PGCP_HUMAN	S	62	ENSP00000220763:R62S;ENSP00000429146:R62S	ENSP00000220763:R62S	R	+	3	2	AC010859.1	97866487	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	1.675000	0.37555	-0.215000	0.10063	0.460000	0.39030	AGA	.	.		0.423	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134	
CPQ	10404	hgsc.bcm.edu	37	8	97797316	97797316	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr8:97797316A>G	ENST00000220763.5	+	2	401	c.191A>G	c.(190-192)tAt>tGt	p.Y64C		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	64					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										AACAGATCCTATGAGCGATTG	0.423																																					p.Y64C		Atlas-SNP	.											.	.	.	.	0			c.A191G						.						122.0	115.0	117.0					8																	97797316		2203	4300	6503	SO:0001583	missense	10404	exon2			GATCCTATGAGCG	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.191A>G	chr8.hg19:g.97797316A>G	ENSP00000220763:p.Tyr64Cys	215.0	0.0		386.0	146.0	NM_016134	B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	hg19	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.619699	0.66787	.	.	ENSG00000104324	ENST00000220763;ENST00000519900;ENST00000517742;ENST00000519484;ENST00000521142	T;T	0.61274	0.58;0.12	5.28	4.07	0.47477	.	0.073633	0.56097	D	0.000028	T	0.77232	0.4100	M	0.89414	3.03	0.47819	D	0.999528	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.959	T	0.81453	-0.0926	10	0.72032	D	0.01	-4.6186	11.5098	0.50486	0.866:0.0:0.0:0.134	.	64;64	B5MDX4;Q9Y646	.;PGCP_HUMAN	C	64	ENSP00000220763:Y64C;ENSP00000429146:Y64C	ENSP00000220763:Y64C	Y	+	2	0	AC010859.1	97866492	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.832000	0.75329	2.009000	0.58944	0.460000	0.39030	TAT	.	.		0.423	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134	
AK3	50808	hgsc.bcm.edu	37	9	4713077	4713077	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr9:4713077T>C	ENST00000381809.3	-	5	813	c.583A>G	c.(583-585)Aca>Gca	p.T195A	AK3_ENST00000447596.4_Missense_Mutation_p.T155A|AK3_ENST00000359883.2_Missense_Mutation_p.T125A	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	193					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	CCGGAGAATGTTTCCAGCACC	0.383																																					p.T195A		Atlas-SNP	.											.	AK3	16	.	0			c.A583G						.						116.0	110.0	112.0					9																	4713077		2203	4300	6503	SO:0001583	missense	50808	exon5			AGAATGTTTCCAG	BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"""adenylate kinase 6"", ""adenylate kinase 3 like 1"""	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.583A>G	chr9.hg19:g.4713077T>C	ENSP00000371230:p.Thr195Ala	67.0	0.0		66.0	25.0	NM_016282	B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	ENST00000381809.3	hg19	CCDS6455.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.638433	0.47153	.	.	ENSG00000147853	ENST00000381809;ENST00000359883;ENST00000474822;ENST00000447596	T;T;T	0.80480	1.02;-1.38;1.02	5.47	4.26	0.50523	.	0.197410	0.51477	D	0.000081	T	0.77191	0.4094	M	0.80183	2.485	0.48452	D	0.99965	B;B	0.22276	0.067;0.021	B;B	0.20577	0.03;0.009	T	0.69712	-0.5071	10	0.10902	T	0.67	-12.7637	10.0566	0.42248	0.2268:0.0:0.0:0.7732	.	155;195	E7ET30;Q9UIJ7	.;KAD3_HUMAN	A	195;125;125;155	ENSP00000371230:T195A;ENSP00000352948:T125A;ENSP00000413933:T155A	ENSP00000352948:T125A	T	-	1	0	AK3	4703077	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.749000	0.55150	2.078000	0.62432	0.533000	0.62120	ACA	.	.		0.383	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051585.1	NM_016282	
CNTLN	54875	hgsc.bcm.edu	37	9	17330664	17330664	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr9:17330664C>T	ENST00000380647.3	+	9	1460	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	CNTLN_ENST00000262360.5_Missense_Mutation_p.T459M|CNTLN_ENST00000425824.1_Missense_Mutation_p.T459M			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	459					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGCTTAGAAACGTTAATGGTT	0.294																																					p.T459M		Atlas-SNP	.											.	CNTLN	128	.	0			c.C1376T						.						125.0	122.0	123.0					9																	17330664		1807	4083	5890	SO:0001583	missense	54875	exon9			TAGAAACGTTAAT	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1376C>T	chr9.hg19:g.17330664C>T	ENSP00000370021:p.Thr459Met	452.0	0.0		421.0	83.0	NM_017738	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	hg19	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379723	0.24944	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.12465	2.68;2.68;2.68	4.85	3.88	0.44766	.	.	.	.	.	T	0.28566	0.0707	M	0.65975	2.015	0.26401	N	0.976419	D;D;D	0.89917	1.0;0.993;0.993	D;P;P	0.69824	0.966;0.834;0.742	T	0.19289	-1.0310	9	0.54805	T	0.06	.	3.707	0.08404	0.1498:0.5101:0.2493:0.0908	.	459;459;459	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	M	459	ENSP00000370021:T459M;ENSP00000392798:T459M;ENSP00000262360:T459M	ENSP00000262360:T459M	T	+	2	0	CNTLN	17320664	0.979000	0.34478	1.000000	0.80357	0.199000	0.23934	0.719000	0.25881	2.381000	0.81170	0.650000	0.86243	ACG	.	.		0.294	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738	
FAM154A	158297	hgsc.bcm.edu	37	9	18928249	18928249	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr9:18928249G>T	ENST00000380534.4	-	4	1505	c.1226C>A	c.(1225-1227)aCc>aAc	p.T409N	FAM154A_ENST00000542071.1_Missense_Mutation_p.T217N|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	409										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AAAGCTGATGGTGTAGGTGGT	0.527																																					p.T409N		Atlas-SNP	.											.	FAM154A	61	.	0			c.C1226A						.						112.0	92.0	99.0					9																	18928249		2203	4300	6503	SO:0001583	missense	158297	exon4			CTGATGGTGTAGG	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.1226C>A	chr9.hg19:g.18928249G>T	ENSP00000369907:p.Thr409Asn	107.0	0.0		121.0	48.0	NM_153707	Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	hg19	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	G	8.814	0.936051	0.18206	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.21543	2.8;2.0	4.79	1.65	0.23941	.	1.425010	0.04174	N	0.325248	T	0.17619	0.0423	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23726	-1.0180	10	0.33141	T	0.24	-0.4909	5.7627	0.18209	0.0818:0.1376:0.6394:0.1413	.	409	Q8IYX7	F154A_HUMAN	N	409;217	ENSP00000369907:T409N;ENSP00000438823:T217N	ENSP00000369907:T409N	T	-	2	0	FAM154A	18918249	0.711000	0.27906	0.468000	0.27192	0.916000	0.54674	0.994000	0.29693	0.693000	0.31634	0.650000	0.86243	ACC	.	.		0.527	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707	
PKN3	29941	hgsc.bcm.edu	37	9	131468992	131468992	+	Splice_Site	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr9:131468992G>A	ENST00000291906.4	+	4	805	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	138					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGCTCCATAGGAGAGGAAGCT	0.632																																					p.E138K		Atlas-SNP	.											.	PKN3	62	.	0			c.G412A						.						8.0	10.0	9.0					9																	131468992		2168	4250	6418	SO:0001630	splice_region_variant	29941	exon4			CCATAGGAGAGGA	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.412-1G>A	chr9.hg19:g.131468992G>A		57.0	0.0		61.0	11.0	NM_013355	Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	hg19	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407949	0.83340	.	.	ENSG00000160447	ENST00000291906	T	0.34275	1.37	5.02	5.02	0.67125	.	.	.	.	.	T	0.42223	0.1193	L	0.43152	1.355	0.80722	D	1	P;P	0.45283	0.855;0.645	P;P	0.49502	0.613;0.533	T	0.14172	-1.0482	8	.	.	.	.	16.8712	0.86041	0.0:0.0:1.0:0.0	.	138;138	Q05BU1;Q6P5Z2	.;PKN3_HUMAN	K	138	ENSP00000291906:E138K	.	E	+	1	0	PKN3	130508813	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	8.966000	0.93397	2.316000	0.78162	0.561000	0.74099	GAG	.	.		0.632	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355	Missense_Mutation
NUP214	8021	hgsc.bcm.edu	37	9	134004694	134004694	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr9:134004694A>G	ENST00000359428.5	+	4	566	c.422A>G	c.(421-423)tAt>tGt	p.Y141C	RNU6-881P_ENST00000516813.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.Y141C|NUP214_ENST00000411637.2_Missense_Mutation_p.Y141C			P35658	NU214_HUMAN	nucleoporin 214kDa	141	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCATTTGCCTATCATAAGCTT	0.378			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																p.Y141C	Pancreas(4;24 48 25510 30394 32571)	Atlas-SNP	.		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	.	NUP214	166	.	0			c.A422G						.						141.0	115.0	124.0					9																	134004694		2203	4300	6503	SO:0001583	missense	8021	exon4			TTGCCTATCATAA	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.422A>G	chr9.hg19:g.134004694A>G	ENSP00000352400:p.Tyr141Cys	130.0	0.0		141.0	42.0	NM_005085	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	hg19	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560333	0.65538	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000531584	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.34879	N	0.003603	D	0.88923	0.6569	L	0.44542	1.39	0.34622	D	0.718711	B;B	0.12013	0.005;0.005	B;B	0.11329	0.006;0.006	D	0.87452	0.2402	10	0.40728	T	0.16	-11.3553	8.266	0.31815	0.8464:0.0:0.1536:0.0	.	141;141	P35658-4;P35658	.;NU214_HUMAN	C	141;141;141;141;51	ENSP00000352400:Y141C;ENSP00000396576:Y141C;ENSP00000405014:Y141C;ENSP00000435874:Y51C	ENSP00000352400:Y141C	Y	+	2	0	NUP214	132994515	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	3.169000	0.50809	2.164000	0.68074	0.533000	0.62120	TAT	.	.		0.378	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085	
QSOX2	169714	hgsc.bcm.edu	37	9	139100947	139100947	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr9:139100947T>C	ENST00000358701.5	-	12	1761	c.1724A>G	c.(1723-1725)cAg>cGg	p.Q575R		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	575					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGAATCCCCCTGGTCTGCGGA	0.577																																					p.Q575R		Atlas-SNP	.											.	QSOX2	63	.	0			c.A1724G						.						90.0	87.0	88.0					9																	139100947		2203	4300	6503	SO:0001583	missense	169714	exon12			TCCCCCTGGTCTG	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1724A>G	chr9.hg19:g.139100947T>C	ENSP00000351536:p.Gln575Arg	97.0	0.0		85.0	19.0	NM_181701	A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	hg19	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	T	6.337	0.430270	0.12045	.	.	ENSG00000165661	ENST00000358701	T	0.05025	3.51	4.91	-9.82	0.00484	.	1.064250	0.07313	N	0.876153	T	0.02848	0.0085	L	0.28556	0.865	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.42103	-0.9471	10	0.09843	T	0.71	-0.0187	2.3547	0.04293	0.2344:0.0685:0.2239:0.4733	.	575	Q6ZRP7	QSOX2_HUMAN	R	575	ENSP00000351536:Q575R	ENSP00000351536:Q575R	Q	-	2	0	QSOX2	138240768	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.584000	0.05800	-2.488000	0.00518	-0.471000	0.05019	CAG	.	.		0.577	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701	
GRIN1	2902	hgsc.bcm.edu	37	9	140051158	140051158	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr9:140051158A>G	ENST00000371561.3	+	5	1806	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.M237V|GRIN1_ENST00000371560.3_Missense_Mutation_p.M258V|GRIN1_ENST00000371555.4_Missense_Mutation_p.M258V|GRIN1_ENST00000371546.4_Missense_Mutation_p.M258V|GRIN1_ENST00000371550.4_Missense_Mutation_p.M237V|GRIN1_ENST00000371553.3_Missense_Mutation_p.M258V|GRIN1_ENST00000315048.3_Missense_Mutation_p.M237V|GRIN1_ENST00000350902.5_Missense_Mutation_p.M237V	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	237					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCAGCCGCGATGCTGAACAT	0.697																																					p.M258V	NSCLC(113;717 1653 2089 20474 37618)	Atlas-SNP	.											.	GRIN1	51	.	0			c.A772G						.						32.0	26.0	28.0					9																	140051158		2186	4285	6471	SO:0001583	missense	2902	exon6			GCCGCGATGCTGA		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.709A>G	chr9.hg19:g.140051158A>G	ENSP00000360616:p.Met237Val	104.0	0.0		125.0	55.0	NM_001185091	A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	hg19	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	A	7.382	0.629043	0.14257	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	D;D;D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	4.29	3.15	0.36227	Extracellular ligand-binding receptor (1);	4.609150	0.00718	N	0.000874	T	0.63189	0.2490	N	0.01352	-0.895	0.33804	D	0.626977	B;B;B;B;B;B	0.15473	0.002;0.0;0.005;0.013;0.006;0.002	B;B;B;B;B;B	0.11329	0.005;0.001;0.004;0.006;0.006;0.002	T	0.59161	-0.7506	10	0.27785	T	0.31	.	8.0546	0.30598	0.8991:0.0:0.1009:0.0	.	258;258;237;237;237;237	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	V	237;237;237;237;258;258;258;237;258	ENSP00000360616:M237V;ENSP00000316696:M237V;ENSP00000316915:M237V;ENSP00000360605:M237V;ENSP00000360601:M258V;ENSP00000360610:M258V;ENSP00000360608:M258V;ENSP00000360614:M237V;ENSP00000360615:M258V	ENSP00000316696:M237V	M	+	1	0	GRIN1	139170979	0.899000	0.30636	0.998000	0.56505	0.748000	0.42578	1.347000	0.33975	1.567000	0.49668	0.402000	0.26972	ATG	.	.		0.697	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327	
KIN	22944	hgsc.bcm.edu	37	10	7822135	7822135	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr10:7822135T>C	ENST00000379562.4	-	4	307	c.260A>G	c.(259-261)aAa>aGa	p.K87R	KIN_ENST00000535925.1_Missense_Mutation_p.K87R|KIN_ENST00000543003.1_5'UTR	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GTGGACCCTTTTAGTGCCTGA	0.383																																					p.K87R		Atlas-SNP	.											.	KIN	39	.	0			c.A260G						.						265.0	234.0	245.0					10																	7822135		2203	4300	6503	SO:0001583	missense	22944	exon4			ACCCTTTTAGTGC	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.260A>G	chr10.hg19:g.7822135T>C	ENSP00000368881:p.Lys87Arg	176.0	0.0		174.0	53.0	NM_012311		Missense_Mutation	SNP	ENST00000379562.4	hg19	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.458275	0.43634	.	.	ENSG00000151657	ENST00000535925;ENST00000379562	.	.	.	5.92	4.8	0.61643	DNA/RNA-binding protein Kin17, conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	M	0.65677	2.01	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.01	T	0.55256	-0.8169	9	0.40728	T	0.16	-24.0763	10.504	0.44823	0.0:0.0728:0.0:0.9272	.	87;87	B4DX32;O60870	.;KIN17_HUMAN	R	87	.	ENSP00000368881:K87R	K	-	2	0	KIN	7862141	1.000000	0.71417	0.562000	0.28370	0.585000	0.36419	7.991000	0.88244	1.079000	0.41038	0.533000	0.62120	AAA	.	.		0.383	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311	
LDB1	8861	hgsc.bcm.edu	37	10	103870846	103870846	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr10:103870846G>A	ENST00000425280.1	-	4	571	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	LDB1_ENST00000361198.5_Missense_Mutation_p.R41W|LDB1_ENST00000490751.1_5'UTR	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	77					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TTCTGAAGCCGTTTGTTAAGC	0.532																																					p.R77W		Atlas-SNP	.											.	LDB1	61	.	0			c.C229T						.						155.0	156.0	156.0					10																	103870846		2203	4300	6503	SO:0001583	missense	8861	exon4			GAAGCCGTTTGTT	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.229C>T	chr10.hg19:g.103870846G>A	ENSP00000392466:p.Arg77Trp	85.0	0.0		55.0	14.0	NM_001113407	B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	hg19	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099104	0.76983	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.97	5.04	0.67666	.	0.052260	0.85682	N	0.000000	T	0.80711	0.4675	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	T	0.83045	-0.0155	9	0.87932	D	0	-0.2368	16.2964	0.82776	0.0:0.0:0.8671:0.1329	.	77;41	Q86U70;Q86U70-3	LDB1_HUMAN;.	W	41;77	.	ENSP00000354616:R41W	R	-	1	2	LDB1	103860836	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.304000	0.43655	2.838000	0.97847	0.561000	0.74099	CGG	.	.		0.532	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407	
CCDC172	374355	hgsc.bcm.edu	37	10	118084530	118084530	+	Silent	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr10:118084530T>C	ENST00000333254.3	+	2	258	c.7T>C	c.(7-9)Ttg>Ctg	p.L3L	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	3																	TGAGATGAGCTTGGAGTCCCT	0.498																																					p.L3L		Atlas-SNP	.											C10orf96,NS,carcinoma,0,1	.	.	.	0			c.T7C						.						105.0	106.0	106.0					10																	118084530		2203	4300	6503	SO:0001819	synonymous_variant	374355	exon2			ATGAGCTTGGAGT	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.7T>C	chr10.hg19:g.118084530T>C		75.0	0.0		45.0	11.0	NM_198515		Silent	SNP	ENST00000333254.3	hg19	CCDS31291.1																																																																																			.	.		0.498	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515	
MUC2	4583	hgsc.bcm.edu	37	11	1081111	1081111	+	Silent	SNP	C	C	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr11:1081111C>T	ENST00000441003.2	+	11	1434	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	MUC2_ENST00000359061.5_Silent_p.N469N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	469	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TACTGCTCAACGAGCTGCAGG	0.667																																					p.N469N		Atlas-SNP	.											.	MUC2	614	.	0			c.C1407T						.						37.0	43.0	41.0					11																	1081111		1993	4166	6159	SO:0001819	synonymous_variant	4583	exon11			GCTCAACGAGCTG	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1407C>T	chr11.hg19:g.1081111C>T		173.0	0.0		184.0	62.0	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	hg19																																																																																				.	.		0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
ZNF215	7762	hgsc.bcm.edu	37	11	6953723	6953723	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr11:6953723C>A	ENST00000278319.5	+	3	808	c.220C>A	c.(220-222)Ctt>Att	p.L74I	ZNF215_ENST00000529903.1_Missense_Mutation_p.L74I|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.L74I	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	74	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GGAGCTCTGTCTTCAATGGCT	0.473																																					p.L74I		Atlas-SNP	.											.	ZNF215	72	.	0			c.C220A						.						70.0	74.0	73.0					11																	6953723		2201	4296	6497	SO:0001583	missense	7762	exon3			CTCTGTCTTCAAT	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.220C>A	chr11.hg19:g.6953723C>A	ENSP00000278319:p.Leu74Ile	167.0	0.0		171.0	43.0	NM_013250	Q96C84	Missense_Mutation	SNP	ENST00000278319.5	hg19	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	9.811	1.183218	0.21870	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.05580	3.42;3.42;3.42	4.15	0.0388	0.14202	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.503504	0.14919	N	0.290787	T	0.08313	0.0207	M	0.76328	2.33	0.21105	N	0.999782	B;B;B	0.24426	0.103;0.103;0.013	B;B;B	0.22152	0.038;0.038;0.033	T	0.32877	-0.9890	10	0.23302	T	0.38	-1.3864	8.9087	0.35539	0.1583:0.3798:0.462:0.0	.	74;74;74	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	I	74	ENSP00000278319:L74I;ENSP00000393202:L74I;ENSP00000432306:L74I	ENSP00000278319:L74I	L	+	1	0	ZNF215	6910299	0.994000	0.37717	0.928000	0.36995	0.894000	0.52154	0.682000	0.25335	0.017000	0.15025	-0.961000	0.02630	CTT	.	.		0.473	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1		
SOX6	55553	hgsc.bcm.edu	37	11	16205478	16205478	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr11:16205478A>G	ENST00000352083.6	-	6	808	c.731T>C	c.(730-732)cTt>cCt	p.L244P	SOX6_ENST00000396356.3_Missense_Mutation_p.L244P|SOX6_ENST00000527619.1_Missense_Mutation_p.L247P|SOX6_ENST00000316399.6_Missense_Mutation_p.L244P|SOX6_ENST00000528252.1_Missense_Mutation_p.L244P|SOX6_ENST00000528429.1_Missense_Mutation_p.L244P			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	244	Gln-rich.				astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTGTTGCAGAAGTTGCTGCTG	0.378																																					p.L257P		Atlas-SNP	.											SOX6_ENST00000527619,NS,carcinoma,0,2	SOX6	149	.	0			c.T770C						.						167.0	154.0	159.0					11																	16205478		2200	4294	6494	SO:0001583	missense	55553	exon6			TGCAGAAGTTGCT	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.731T>C	chr11.hg19:g.16205478A>G	ENSP00000339876:p.Leu244Pro	103.0	0.0		74.0	10.0	NM_001145819	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	hg19		.	.	.	.	.	.	.	.	.	.	A	22.2	4.252963	0.80135	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98602	-5.02;-4.99;-5.02;-5.02;-5.02;-4.99	5.32	5.32	0.75619	.	0.129583	0.53938	D	0.000057	D	0.98751	0.9580	M	0.75085	2.285	0.80722	D	1	D;D;D	0.76494	0.973;0.966;0.999	P;P;D	0.83275	0.864;0.514;0.996	D	0.99869	1.1093	10	0.87932	D	0	.	15.2753	0.73737	1.0:0.0:0.0:0.0	.	244;244;247	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	P	244;244;244;244;247;244	ENSP00000324948:L244P;ENSP00000339876:L244P;ENSP00000379644:L244P;ENSP00000432134:L244P;ENSP00000434455:L247P;ENSP00000433233:L244P	ENSP00000324948:L244P	L	-	2	0	SOX6	16162054	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.605000	0.90883	2.015000	0.59207	0.374000	0.22700	CTT	.	.		0.378	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326	
MRGPRX2	117194	hgsc.bcm.edu	37	11	19077740	19077740	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr11:19077740G>C	ENST00000329773.2	-	2	297	c.210C>G	c.(208-210)agC>agG	p.S70R		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	70					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CCCCGGCCAGGCTGAGGACGT	0.542																																					p.S70R	GBM(198;1966 2199 4849 37227 49954)	Atlas-SNP	.											.	MRGPRX2	42	.	0			c.C210G						.						85.0	93.0	91.0					11																	19077740		2199	4293	6492	SO:0001583	missense	117194	exon2			GGCCAGGCTGAGG		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.210C>G	chr11.hg19:g.19077740G>C	ENSP00000333800:p.Ser70Arg	172.0	0.0		161.0	18.0	NM_054030	B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	hg19	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	14.85	2.659929	0.47572	.	.	ENSG00000183695	ENST00000329773	T	0.09445	2.98	5.14	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.239450	0.36703	N	0.002456	T	0.15435	0.0372	L	0.43923	1.385	0.26794	N	0.969346	P	0.47191	0.891	P	0.52424	0.698	T	0.02789	-1.1110	10	0.87932	D	0	.	7.5485	0.27781	0.2594:0.0:0.7406:0.0	.	70	Q96LB1	MRGX2_HUMAN	R	70	ENSP00000333800:S70R	ENSP00000333800:S70R	S	-	3	2	MRGPRX2	19034316	1.000000	0.71417	0.997000	0.53966	0.159000	0.22180	3.776000	0.55356	0.868000	0.35678	0.655000	0.94253	AGC	.	.		0.542	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030	
OR5AR1	219493	hgsc.bcm.edu	37	11	56431491	56431491	+	Silent	SNP	T	T	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr11:56431491T>A	ENST00000302969.2	+	1	354	c.330T>A	c.(328-330)gcT>gcA	p.A110A		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TTGTGGATGCTGAGTGCTATG	0.507																																					p.A110A		Atlas-SNP	.											.	OR5AR1	68	.	0			c.T330A						.						163.0	161.0	161.0					11																	56431491		2201	4296	6497	SO:0001819	synonymous_variant	219493	exon1			GGATGCTGAGTGC	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.330T>A	chr11.hg19:g.56431491T>A		101.0	0.0		89.0	16.0	NM_001004730	Q6IF61	Silent	SNP	ENST00000302969.2	hg19	CCDS31535.1																																																																																			.	.		0.507	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730	
TMEM132A	54972	hgsc.bcm.edu	37	11	60703453	60703453	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr11:60703453C>A	ENST00000453848.2	+	11	2304	c.2146C>A	c.(2146-2148)Cca>Aca	p.P716T	TMEM132A_ENST00000005286.4_Missense_Mutation_p.P717T			Q24JP5	T132A_HUMAN	transmembrane protein 132A	716	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGCCATCCTGCCAGCTGAGGA	0.692																																					p.P717T		Atlas-SNP	.											.	TMEM132A	135	.	0			c.C2149A						.						39.0	37.0	38.0					11																	60703453		2203	4298	6501	SO:0001583	missense	54972	exon11			ATCCTGCCAGCTG	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2146C>A	chr11.hg19:g.60703453C>A	ENSP00000405823:p.Pro716Thr	45.0	0.0		49.0	15.0	NM_017870	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	hg19	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	9.781	1.175292	0.21704	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286;ENST00000535480	T;T;T	0.22945	2.62;2.62;1.93	5.35	4.37	0.52481	.	0.426996	0.21729	N	0.069991	T	0.16557	0.0398	N	0.20530	0.585	0.33632	D	0.606229	B;B	0.32968	0.392;0.257	B;B	0.34093	0.172;0.175	T	0.16453	-1.0402	10	0.87932	D	0	.	8.6013	0.33747	0.1696:0.6665:0.1639:0.0	.	716;717	Q24JP5;Q24JP5-2	T132A_HUMAN;.	T	467;716;717;82	ENSP00000405823:P716T;ENSP00000005286:P717T;ENSP00000439716:P82T	ENSP00000005286:P717T	P	+	1	0	TMEM132A	60460029	0.939000	0.31865	1.000000	0.80357	0.767000	0.43475	1.250000	0.32850	2.677000	0.91161	0.561000	0.74099	CCA	.	.		0.692	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870	
TRIM49C	642612	hgsc.bcm.edu	37	11	89774410	89774410	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr11:89774410T>A	ENST00000448984.1	+	8	1380	c.1051T>A	c.(1051-1053)Tgg>Agg	p.W351R	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	351	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|lung(4)	8						AGGGGACTCCTGGAATTGGGC	0.438																																					p.W351R		Atlas-SNP	.											.	TRIM49C	48	.	0			c.T1051A						.																																			SO:0001583	missense	642612	exon8			GACTCCTGGAATT	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.1051T>A	chr11.hg19:g.89774410T>A	ENSP00000388299:p.Trp351Arg	137.0	0.0		134.0	36.0	NM_001195234	A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	hg19	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	T	9.531	1.110889	0.20714	.	.	ENSG00000204449	ENST00000448984	T	0.67865	-0.29	0.715	0.715	0.18186	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.65091	0.2658	L	0.28054	0.825	0.09310	N	1	D	0.57571	0.98	D	0.63381	0.914	T	0.54153	-0.8336	7	.	.	.	.	.	.	.	.	351	P0CI26	T49L2_HUMAN	R	351	ENSP00000388299:W351R	.	W	+	1	0	TRIM49L2	89414058	0.000000	0.05858	0.029000	0.17559	0.024000	0.10985	-1.157000	0.03157	0.560000	0.29169	0.254000	0.18369	TGG	.	.		0.438	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234	
DDI1	414301	hgsc.bcm.edu	37	11	103908514	103908514	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr11:103908514G>A	ENST00000302259.3	+	1	1207	c.964G>A	c.(964-966)Gag>Aag	p.E322K	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	322							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTCCATACTTGAGGATCAACC	0.448																																					p.E322K		Atlas-SNP	.											.	DDI1	222	.	0			c.G964A						.						136.0	127.0	130.0					11																	103908514		2202	4299	6501	SO:0001583	missense	414301	exon1			ATACTTGAGGATC		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.964G>A	chr11.hg19:g.103908514G>A	ENSP00000302805:p.Glu322Lys	117.0	0.0		120.0	37.0	NM_001001711	Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	hg19	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893254	0.33442	.	.	ENSG00000170967	ENST00000302259	T	0.50001	0.76	5.21	4.29	0.51040	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	M	0.81497	2.545	0.43058	D	0.994674	P	0.39326	0.668	B	0.37480	0.251	T	0.60915	-0.7168	10	0.56958	D	0.05	-13.2733	13.8723	0.63626	0.0:0.1541:0.8459:0.0	.	322	Q8WTU0	DDI1_HUMAN	K	322	ENSP00000302805:E322K	ENSP00000302805:E322K	E	+	1	0	DDI1	103413724	1.000000	0.71417	0.123000	0.21794	0.063000	0.16089	7.224000	0.78042	1.560000	0.49568	-0.175000	0.13238	GAG	.	.		0.448	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711	
C11orf63	79864	hgsc.bcm.edu	37	11	122774672	122774672	+	Silent	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr11:122774672T>C	ENST00000531316.1	+	2	476	c.384T>C	c.(382-384)taT>taC	p.Y128Y	C11orf63_ENST00000307257.6_Silent_p.Y128Y|C11orf63_ENST00000227349.2_Silent_p.Y128Y			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	128					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACCTCCGCTATGACCCGAACT	0.468																																					p.Y128Y		Atlas-SNP	.											.	C11orf63	116	.	0			c.T384C						.						147.0	166.0	159.0					11																	122774672		2202	4299	6501	SO:0001819	synonymous_variant	79864	exon3			CCGCTATGACCCG	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.384T>C	chr11.hg19:g.122774672T>C		156.0	0.0		168.0	20.0	NM_024806	A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	hg19	CCDS8438.1																																																																																			.	.		0.468	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806	
C11orf63	79864	hgsc.bcm.edu	37	11	122805414	122805414	+	Missense_Mutation	SNP	A	A	G	rs201888967		TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr11:122805414A>G	ENST00000531316.1	+	4	1357	c.1265A>G	c.(1264-1266)aAt>aGt	p.N422S	C11orf63_ENST00000227349.2_Missense_Mutation_p.N422S			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	422					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCCTCTAACAATGATGTACAA	0.418																																					p.N422S		Atlas-SNP	.											.	C11orf63	116	.	0			c.A1265G						.						77.0	75.0	76.0					11																	122805414		2202	4299	6501	SO:0001583	missense	79864	exon5			CTAACAATGATGT	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1265A>G	chr11.hg19:g.122805414A>G	ENSP00000431669:p.Asn422Ser	174.0	0.0		200.0	73.0	NM_024806	A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	hg19	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	A	6.911	0.537618	0.13188	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.23147	1.92;1.92	5.25	-1.33	0.09172	.	1.157030	0.06281	N	0.697381	T	0.14614	0.0353	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.31998	-0.9923	10	0.15499	T	0.54	0.0253	4.5599	0.12154	0.3803:0.3417:0.278:0.0	.	422	Q6NUN7	CK063_HUMAN	S	422	ENSP00000227349:N422S;ENSP00000431669:N422S	ENSP00000227349:N422S	N	+	2	0	C11orf63	122310624	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.472000	0.06623	-0.247000	0.09597	-0.334000	0.08254	AAT	.	.		0.418	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806	
WNK1	65125	hgsc.bcm.edu	37	12	992147	992147	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr12:992147A>T	ENST00000315939.6	+	15	4054	c.3411A>T	c.(3409-3411)ttA>ttT	p.L1137F	WNK1_ENST00000530271.2_Missense_Mutation_p.L1635F|WNK1_ENST00000537687.1_Missense_Mutation_p.L1397F|WNK1_ENST00000340908.4_Missense_Mutation_p.L730F|WNK1_ENST00000535572.1_Missense_Mutation_p.L890F	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1137					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AATGTCAATTAGAGACTCATA	0.358																																					p.L1397F	Colon(19;451 567 6672 12618 28860)	Atlas-SNP	.											.	WNK1	403	.	0			c.A4191T						.						118.0	124.0	122.0					12																	992147		2203	4300	6503	SO:0001583	missense	65125	exon15			TCAATTAGAGACT	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3411A>T	chr12.hg19:g.992147A>T	ENSP00000313059:p.Leu1137Phe	189.0	0.0		155.0	27.0	NM_001184985	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	hg19	CCDS8506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.47|18.47	3.630498|3.630498	0.67015|0.67015	.|.	.|.	ENSG00000060237|ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908|ENST00000544965	T;T;T;T;T|.	0.44482|.	0.92;0.92;0.92;0.92;0.92|.	6.02|6.02	-0.255|-0.255	0.12988|0.12988	.|.	0.000000|.	0.50627|.	D|.	0.000101|.	T|.	0.66694|.	0.2815|.	M|M	0.67700|0.67700	2.07|2.07	0.53005|0.53005	D|D	0.999964|0.999964	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.997|.	T|.	0.64533|.	-0.6385|.	10|.	0.87932|.	D|.	0|.	-11.2212|-11.2212	11.0923|11.0923	0.48123|0.48123	0.5138:0.0:0.4862:0.0|0.5138:0.0:0.4862:0.0	.|.	890;890;1137|.	Q9H4A3-2;F5GWT4;Q9H4A3|.	.;.;WNK1_HUMAN|.	F|X	890;1137;1397;310;1635;730|214	ENSP00000441972:L890F;ENSP00000313059:L1137F;ENSP00000444465:L1397F;ENSP00000433548:L1635F;ENSP00000341292:L730F|.	ENSP00000252477:L310F|.	L|R	+|+	3|1	2|2	WNK1|WNK1	862408|862408	0.983000|0.983000	0.35010|0.35010	0.943000|0.943000	0.38184|0.38184	0.998000|0.998000	0.95712|0.95712	0.362000|0.362000	0.20284|0.20284	0.150000|0.150000	0.19136|0.19136	0.528000|0.528000	0.53228|0.53228	TTA|AGA	.	.		0.358	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
RND1	27289	hgsc.bcm.edu	37	12	49258640	49258640	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr12:49258640G>A	ENST00000309739.5	-	2	264	c.134C>T	c.(133-135)aCc>aTc	p.T45I		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	45					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TTCGAACACGGTGGGCACATA	0.512																																					p.T45I		Atlas-SNP	.											.	RND1	26	.	0			c.C134T						.						186.0	163.0	171.0					12																	49258640		2203	4300	6503	SO:0001583	missense	27289	exon2			AACACGGTGGGCA	Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.134C>T	chr12.hg19:g.49258640G>A	ENSP00000308461:p.Thr45Ile	167.0	0.0		196.0	40.0	NM_014470	A8K9P7	Missense_Mutation	SNP	ENST00000309739.5	hg19	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986880	0.74589	.	.	ENSG00000172602	ENST00000309739	D	0.87887	-2.31	4.14	3.25	0.37280	Small GTP-binding protein domain (1);	0.053331	0.64402	N	0.000001	D	0.93979	0.8072	M	0.92923	3.36	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.93958	0.7238	10	0.87932	D	0	-8.559	9.9628	0.41706	0.1013:0.0:0.8987:0.0	.	45	Q92730	RND1_HUMAN	I	45	ENSP00000308461:T45I	ENSP00000308461:T45I	T	-	2	0	RND1	47544907	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.135000	0.94478	1.104000	0.41587	0.449000	0.29647	ACC	.	.		0.512	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	NM_014470	
GRIP1	23426	hgsc.bcm.edu	37	12	66786128	66786129	+	Missense_Mutation	DNP	TG	TG	GA			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr12:66786128_66786129TG>GA	ENST00000398016.3	-	18	2335_2336	c.2267_2268CA>TC	c.(2266-2268)tCA>tTC	p.S756F	GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000359742.4_Missense_Mutation_p.S808F|GRIP1_ENST00000286445.7_Missense_Mutation_p.S808F	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACCCATCCCATGAATCCACAGC	0.545																																					p.S756S|p.S756L		Atlas-SNP	.											.	GRIP1	106	.	0			c.A2268C|c.C2267T						.																																			SO:0001583	missense	23426	exon18			ATCCCATGAATCC|TCCCATGAATCCA	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2267_2268delinsGA	chr12.hg19:g.66786128_66786129delinsGA	ENSP00000381098:p.Ser756Phe	78.0|77.0	0.0		69.0|72.0	9.0|10.0	NM_001178074	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent|Missense_Mutation	SNP	ENST00000398016.3	hg19	CCDS41807.1																																																																																			.	.		0.545	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
CNOT2	4848	hgsc.bcm.edu	37	12	70729244	70729244	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr12:70729244G>T	ENST00000418359.3	+	9	1127	c.676G>T	c.(676-678)Gac>Tac	p.D226Y	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.D226Y|CNOT2_ENST00000551483.1_5'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	226					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GACAGGATTGGACCTTTCAGA	0.383																																					p.D226Y		Atlas-SNP	.											.	CNOT2	53	.	0			c.G676T						.						115.0	110.0	112.0					12																	70729244		2203	4300	6503	SO:0001583	missense	4848	exon9			GGATTGGACCTTT	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.676G>T	chr12.hg19:g.70729244G>T	ENSP00000412091:p.Asp226Tyr	129.0	0.0		143.0	52.0	NM_001199302	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	hg19	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223156	0.95139	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000552483;ENST00000548159;ENST00000551043;ENST00000550155	T;T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.83894	0.5353	M	0.75615	2.305	0.80722	D	1	D	0.61697	0.99	P	0.56216	0.794	D	0.85799	0.1372	10	0.87932	D	0	-7.5889	19.484	0.95022	0.0:0.0:1.0:0.0	.	226	Q9NZN8	CNOT2_HUMAN	Y	226;226;226;89;165;80;217;226;36	ENSP00000450318:D226Y;ENSP00000229195:D226Y;ENSP00000412091:D226Y;ENSP00000448490:D89Y;ENSP00000447497:D165Y;ENSP00000450077:D80Y;ENSP00000449659:D217Y;ENSP00000449260:D226Y;ENSP00000448499:D36Y	ENSP00000229195:D226Y	D	+	1	0	CNOT2	69015511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.777000	0.99008	2.669000	0.90835	0.650000	0.86243	GAC	.	.		0.383	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1		
PTPRQ	374462	hgsc.bcm.edu	37	12	81026036	81026036	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr12:81026036A>G	ENST00000266688.5	+	39	5740	c.5740A>G	c.(5740-5742)Att>Gtt	p.I1914V				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1960					regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						CCTTTCAATAATTCTCCTTGG	0.373																																					p.I1746V		Atlas-SNP	.											.	PTPRQ	119	.	0			c.A5236G						.						245.0	211.0	221.0					12																	81026036		692	1591	2283	SO:0001583	missense	374462	exon31			TCAATAATTCTCC	AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.5740A>G	chr12.hg19:g.81026036A>G	ENSP00000266688:p.Ile1914Val	117.0	0.0		122.0	26.0	NM_001145026		Missense_Mutation	SNP	ENST00000266688.5	hg19		.	.	.	.	.	.	.	.	.	.	A	3.228	-0.158011	0.06544	.	.	ENSG00000139304	ENST00000266688	T	0.34667	1.35	5.26	2.81	0.32909	.	.	.	.	.	T	0.22898	0.0553	.	.	.	0.22500	N	0.99904	B	0.06786	0.001	B	0.04013	0.001	T	0.16660	-1.0395	8	0.35671	T	0.21	.	5.7326	0.18049	0.7286:0.0:0.1402:0.1312	.	1960	Q9UMZ3	PTPRQ_HUMAN	V	1914	ENSP00000266688:I1914V	ENSP00000266688:I1914V	I	+	1	0	PTPRQ	79550167	1.000000	0.71417	0.757000	0.31301	0.841000	0.47740	3.005000	0.49521	0.809000	0.34255	0.397000	0.26171	ATT	.	.		0.373	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001145026	
TRPC4	7223	hgsc.bcm.edu	37	13	38237691	38237691	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr13:38237691A>G	ENST00000379705.3	-	6	2407	c.1550T>C	c.(1549-1551)tTg>tCg	p.L517S	TRPC4_ENST00000379681.3_Missense_Mutation_p.L517S|TRPC4_ENST00000379673.2_Missense_Mutation_p.L517S|TRPC4_ENST00000447043.1_Missense_Mutation_p.L517S|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.L517S|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.L344S|TRPC4_ENST00000338947.5_Missense_Mutation_p.L344S|TRPC4_ENST00000358477.2_Missense_Mutation_p.L517S			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	517					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TAGAAACTTCAAAATGTCCAG	0.398																																					p.L517S		Atlas-SNP	.											.	TRPC4	389	.	0			c.T1550C						.						85.0	83.0	83.0					13																	38237691		2203	4300	6503	SO:0001583	missense	7223	exon6			AACTTCAAAATGT	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1550T>C	chr13.hg19:g.38237691A>G	ENSP00000369027:p.Leu517Ser	174.0	0.0		147.0	38.0	NM_003306	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	hg19	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383135	0.82792	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	6.08	6.08	0.98989	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	M	0.71581	2.175	0.80722	D	1	P;D;D;D;P;P	0.76494	0.851;0.959;0.999;0.972;0.754;0.94	P;P;D;P;P;P	0.83275	0.55;0.835;0.996;0.891;0.55;0.897	D	0.99716	1.1008	10	0.51188	T	0.08	-15.3057	16.6438	0.85155	1.0:0.0:0.0:0.0	.	517;517;517;344;517;517	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	S	517;517;344;344;517;517;517;517	ENSP00000369027:L517S;ENSP00000369003:L517S;ENSP00000342580:L344S;ENSP00000369001:L344S;ENSP00000348025:L517S;ENSP00000351264:L517S;ENSP00000368995:L517S;ENSP00000414316:L517S	ENSP00000342580:L344S	L	-	2	0	TRPC4	37135691	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	TTG	.	.		0.398	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
IRS2	8660	hgsc.bcm.edu	37	13	110436754	110436754	+	Silent	SNP	C	C	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr13:110436754C>A	ENST00000375856.3	-	1	2161	c.1647G>T	c.(1645-1647)ctG>ctT	p.L549L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	549					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CACAGTGGCTCAGGGGCCTGT	0.716																																					p.L549L	Melanoma(100;613 2409 40847)	Atlas-SNP	.											.	IRS2	44	.	0			c.G1647T						.						12.0	16.0	15.0					13																	110436754		2141	4236	6377	SO:0001819	synonymous_variant	8660	exon1			GTGGCTCAGGGGC	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.1647G>T	chr13.hg19:g.110436754C>A		125.0	0.0		101.0	40.0	NM_003749	Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	hg19	CCDS9510.1																																																																																			.	.		0.716	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749	
ARHGEF40	55701	hgsc.bcm.edu	37	14	21544595	21544595	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr14:21544595C>T	ENST00000298694.4	+	6	1943	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P606S			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	606						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGCACTCATTCCTGCCTTGAG	0.597																																					p.P606S		Atlas-SNP	.											.	ARHGEF40	84	.	0			c.C1816T						.						70.0	61.0	64.0					14																	21544595		2203	4300	6503	SO:0001583	missense	55701	exon6			CTCATTCCTGCCT		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1816C>T	chr14.hg19:g.21544595C>T	ENSP00000298694:p.Pro606Ser	54.0	0.0		48.0	16.0	NM_018071	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	hg19	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	0.130	-1.114504	0.01799	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.01871	4.65;4.59	5.52	3.63	0.41609	.	0.141481	0.33040	N	0.005346	T	0.02083	0.0065	L	0.27053	0.805	0.25579	N	0.986817	B	0.20261	0.043	B	0.24974	0.057	T	0.45026	-0.9289	10	0.07030	T	0.85	.	13.7699	0.63018	0.2743:0.7257:0.0:0.0	.	606	Q8TER5	ARH40_HUMAN	S	606	ENSP00000298694:P606S;ENSP00000298693:P606S	ENSP00000298693:P606S	P	+	1	0	ARHGEF40	20614435	0.885000	0.30320	0.970000	0.41538	0.054000	0.15201	0.114000	0.15520	0.708000	0.31955	-1.367000	0.01198	CCT	.	.		0.597	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1		
G2E3	55632	hgsc.bcm.edu	37	14	31058658	31058658	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr14:31058658A>G	ENST00000206595.6	+	4	359	c.205A>G	c.(205-207)Atc>Gtc	p.I69V	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Missense_Mutation_p.I23V|G2E3_ENST00000553504.1_Missense_Mutation_p.I99V	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	69					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AATAGAAGATATCAGGAAGGA	0.299																																					p.I69V		Atlas-SNP	.											.	G2E3	82	.	0			c.A205G						.						106.0	116.0	113.0					14																	31058658		2203	4296	6499	SO:0001583	missense	55632	exon4			GAAGATATCAGGA	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.205A>G	chr14.hg19:g.31058658A>G	ENSP00000206595:p.Ile69Val	157.0	0.0		157.0	27.0	NM_017769	Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	hg19	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315837	0.81469	.	.	ENSG00000092140	ENST00000206595;ENST00000550944;ENST00000438909;ENST00000553504;ENST00000554714;ENST00000547532;ENST00000555429	T;T;T;T;T;T;D	0.90844	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-2.74	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.91734	0.7386	N	0.25485	0.75	0.54753	D	0.999987	D;D	0.69078	0.972;0.997	P;D	0.80764	0.779;0.994	D	0.91895	0.5527	10	0.42905	T	0.14	-8.3866	15.4936	0.75632	1.0:0.0:0.0:0.0	.	23;69	B4DIF9;Q7L622	.;G2E3_HUMAN	V	69;69;23;99;69;69;69	ENSP00000206595:I69V;ENSP00000448745:I69V;ENSP00000391068:I23V;ENSP00000451653:I99V;ENSP00000451147:I69V;ENSP00000446615:I69V;ENSP00000452275:I69V	ENSP00000206595:I69V	I	+	1	0	G2E3	30128409	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.507000	0.81676	2.134000	0.65973	0.482000	0.46254	ATC	.	.		0.299	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769	
KIAA0391	9692	hgsc.bcm.edu	37	14	35649939	35649939	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr14:35649939C>G	ENST00000557565.1	+	5	1612	c.1231C>G	c.(1231-1233)Ctc>Gtc	p.L411V	KIAA0391_ENST00000605870.1_Missense_Mutation_p.L39V|KIAA0391_ENST00000603544.1_Missense_Mutation_p.L395V|KIAA0391_ENST00000321130.10_Missense_Mutation_p.L395V|KIAA0391_ENST00000250377.7_Missense_Mutation_p.L316V|KIAA0391_ENST00000604948.1_Missense_Mutation_p.L316V|KIAA0391_ENST00000534898.4_Missense_Mutation_p.L411V	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	411					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CATTGATGGTCTCAATGTTGC	0.303																																					p.L411V		Atlas-SNP	.											.	KIAA0391	35	.	0			c.C1231G						.						174.0	155.0	162.0					14																	35649939		2201	4300	6501	SO:0001583	missense	9692	exon5			GATGGTCTCAATG	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1231C>G	chr14.hg19:g.35649939C>G	ENSP00000454657:p.Leu411Val	91.0	0.0		88.0	15.0	NM_014672	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	hg19	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942081	0.73557	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121;ENST00000556912;ENST00000557404	T;T;T;T	0.55588	0.63;0.51;0.56;1.02	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.74981	0.3788	M	0.87180	2.865	0.51233	D	0.999916	D;D	0.63046	0.992;0.992	D;D	0.68192	0.956;0.956	T	0.78135	-0.2322	10	0.54805	T	0.06	-3.8909	15.0838	0.72135	0.0:1.0:0.0:0.0	.	395;411	O15091-2;O15091	.;MRRP3_HUMAN	V	316;316;395;411;395;39;39	ENSP00000250377:L316V;ENSP00000324697:L395V;ENSP00000440915:L411V;ENSP00000450898:L39V	ENSP00000250377:L316V	L	+	1	0	KIAA0391	34719690	0.995000	0.38212	0.996000	0.52242	0.975000	0.68041	4.078000	0.57606	2.630000	0.89119	0.655000	0.94253	CTC	.	.		0.303	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672	
NEMF	9147	hgsc.bcm.edu	37	14	50266232	50266232	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr14:50266232T>G	ENST00000298310.5	-	25	2875	c.2426A>C	c.(2425-2427)aAa>aCa	p.K809T	NEMF_ENST00000545773.1_Missense_Mutation_p.K767T|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.K788T			O60524	NEMF_HUMAN	nuclear export mediator factor	809					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GCTCTGTGATTTACTGTCACT	0.303																																					p.K809T		Atlas-SNP	.											.	NEMF	79	.	0			c.A2426C						.						91.0	99.0	96.0					14																	50266232		2203	4297	6500	SO:0001583	missense	9147	exon25			TGTGATTTACTGT	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2426A>C	chr14.hg19:g.50266232T>G	ENSP00000298310:p.Lys809Thr	312.0	0.0		297.0	46.0	NM_004713	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	hg19	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.470168	0.26423	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.49139	0.81;0.8;0.79;0.8	5.2	5.2	0.72013	.	0.123434	0.53938	D	0.000049	T	0.36580	0.0972	L	0.39245	1.2	0.80722	D	1	B;B;P;P	0.38335	0.43;0.266;0.528;0.627	B;B;B;B	0.35353	0.152;0.107;0.201;0.15	T	0.21109	-1.0255	10	0.37606	T	0.19	-7.2413	10.3455	0.43903	0.0:0.0797:0.0:0.9203	.	788;784;767;809	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	T	809;767;788;581;767	ENSP00000298310:K809T;ENSP00000438309:K767T;ENSP00000441016:K788T;ENSP00000452540:K767T	ENSP00000298310:K809T	K	-	2	0	NEMF	49335982	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.380000	0.59581	1.956000	0.56807	0.383000	0.25322	AAA	.	.		0.303	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	
SLC10A1	6554	hgsc.bcm.edu	37	14	70246027	70246027	+	Silent	SNP	A	A	T	rs375859965		TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr14:70246027A>T	ENST00000216540.4	-	3	751	c.618T>A	c.(616-618)tcT>tcA	p.S206S		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	206					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	CATTGATGGCAGAGAGAACTG	0.483																																					p.S206S		Atlas-SNP	.											.	SLC10A1	32	.	0			c.T618A						.						148.0	103.0	118.0					14																	70246027		2203	4300	6503	SO:0001819	synonymous_variant	6554	exon3			GATGGCAGAGAGA	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.618T>A	chr14.hg19:g.70246027A>T		118.0	0.0		101.0	28.0	NM_003049	B9EGB6|Q2TU29	Silent	SNP	ENST00000216540.4	hg19	CCDS9797.1																																																																																			.	.		0.483	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1		
RIN3	79890	hgsc.bcm.edu	37	14	93118677	93118677	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr14:93118677A>G	ENST00000216487.7	+	6	1442	c.1283A>G	c.(1282-1284)gAg>gGg	p.E428G	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	428	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E428G(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				ACGCCCCGGGAGAGCACGGAG	0.662																																					p.E428G		Atlas-SNP	.											RIN3,NS,carcinoma,0,1	RIN3	81	.	1	Substitution - Missense(1)	prostate(1)	c.A1283G						.						63.0	72.0	69.0					14																	93118677		2203	4300	6503	SO:0001583	missense	79890	exon6			CCCGGGAGAGCAC	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1283A>G	chr14.hg19:g.93118677A>G	ENSP00000216487:p.Glu428Gly	218.0	1.0		151.0	20.0	NM_024832	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	hg19	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	A	0.305	-0.971129	0.02232	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.06294	3.32	3.79	2.9	0.33743	.	1.489490	0.04233	N	0.335545	T	0.03348	0.0097	N	0.02011	-0.69	0.09310	N	0.999991	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.38672	-0.9650	10	0.29301	T	0.29	-6.1219	9.1654	0.37048	0.2456:0.0:0.7544:0.0	.	428;474;353;428	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	G	428;352	ENSP00000216487:E428G	ENSP00000216487:E428G	E	+	2	0	RIN3	92188430	0.018000	0.18449	0.038000	0.18304	0.003000	0.03518	0.422000	0.21296	0.731000	0.32448	-0.765000	0.03448	GAG	.	.		0.662	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1		
MGA	23269	hgsc.bcm.edu	37	15	42054035	42054035	+	Silent	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr15:42054035A>G	ENST00000570161.1	+	20	7497	c.7497A>G	c.(7495-7497)gtA>gtG	p.V2499V	MGA_ENST00000545763.1_Silent_p.V2290V|MGA_ENST00000219905.7_Silent_p.V2499V|MGA_ENST00000566586.1_Silent_p.V2290V|MGA_ENST00000389936.4_Silent_p.V2460V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACGGAAAGTATCGTCTCTTT	0.358																																					p.V2499V		Atlas-SNP	.											.	MGA	264	.	0			c.A7497G						.						40.0	34.0	36.0					15																	42054035		1832	4079	5911	SO:0001819	synonymous_variant	23269	exon21			GAAAGTATCGTCT	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7497A>G	chr15.hg19:g.42054035A>G		225.0	0.0		235.0	63.0	NM_001164273	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	hg19	CCDS55959.1																																																																																			.	.		0.358	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
LEO1	123169	hgsc.bcm.edu	37	15	52258161	52258161	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr15:52258161T>A	ENST00000299601.5	-	2	659	c.599A>T	c.(598-600)gAg>gTg	p.E200V	LEO1_ENST00000315141.5_Missense_Mutation_p.E200V	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	200	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CTGTTGTCTCTCATCATCGGA	0.433																																					p.E200V	Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	Atlas-SNP	.											.	LEO1	46	.	0			c.A599T						.						282.0	275.0	277.0					15																	52258161		2195	4293	6488	SO:0001583	missense	123169	exon2			TGTCTCTCATCAT	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.599A>T	chr15.hg19:g.52258161T>A	ENSP00000299601:p.Glu200Val	86.0	0.0		84.0	13.0	NM_138792	Q96N99	Missense_Mutation	SNP	ENST00000299601.5	hg19	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.796206	0.31777	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.13	5.13	0.70059	.	0.408874	0.24098	N	0.041567	T	0.48390	0.1497	N	0.19112	0.55	0.80722	D	1	P;B	0.35894	0.526;0.392	B;B	0.41571	0.36;0.27	T	0.47898	-0.9081	9	0.33940	T	0.23	.	14.9417	0.70997	0.0:0.0:0.0:1.0	.	200;200	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	V	200	.	ENSP00000299601:E200V	E	-	2	0	LEO1	50045453	1.000000	0.71417	0.472000	0.27241	0.204000	0.24138	4.208000	0.58486	1.938000	0.56188	0.533000	0.62120	GAG	.	.		0.433	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792	
LMAN1L	79748	hgsc.bcm.edu	37	15	75111586	75111586	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr15:75111586G>T	ENST00000309664.5	+	6	830	c.691G>T	c.(691-693)Gtc>Ttc	p.V231F	LMAN1L_ENST00000379709.3_Missense_Mutation_p.V231F|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	231	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTCTTTGGGGTCTCAGCAGC	0.562																																					p.V231F		Atlas-SNP	.											.	LMAN1L	43	.	0			c.G691T						.						165.0	164.0	164.0					15																	75111586		2197	4296	6493	SO:0001583	missense	79748	exon6			TTTGGGGTCTCAG	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.691G>T	chr15.hg19:g.75111586G>T	ENSP00000310431:p.Val231Phe	66.0	0.0		78.0	25.0	NM_021819	Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	hg19	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778183	0.49786	.	.	ENSG00000140506	ENST00000309664;ENST00000456603;ENST00000379709	T;T	0.65178	-0.14;-0.14	5.67	3.41	0.39046	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.366373	0.25720	N	0.028751	T	0.70544	0.3236	L	0.61218	1.895	0.44927	D	0.997949	D;D;D;D	0.63880	0.993;0.992;0.993;0.993	D;P;D;D	0.65874	0.919;0.868;0.939;0.919	T	0.67503	-0.5654	9	.	.	.	-26.1906	7.3317	0.26586	0.2438:0.0:0.7562:0.0	.	123;231;159;231	B4DGW5;Q9HAT1-3;B4DU67;Q9HAT1	.;.;.;LMA1L_HUMAN	F	231;123;231	ENSP00000310431:V231F;ENSP00000369031:V231F	.	V	+	1	0	LMAN1L	72898639	1.000000	0.71417	0.999000	0.59377	0.178000	0.23041	1.368000	0.34216	0.649000	0.30751	-0.218000	0.12543	GTC	.	.		0.562	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4		
CREBBP	1387	hgsc.bcm.edu	37	16	3843532	3843532	+	Silent	SNP	C	C	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr16:3843532C>T	ENST00000262367.5	-	4	1880	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q	CREBBP_ENST00000382070.3_Silent_p.Q357Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	357	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTAGAACCAGCTGCTGCTGTA	0.498			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.Q357Q		Atlas-SNP	.		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	CREBBP	546	.	0			c.G1071A						.						180.0	145.0	157.0					16																	3843532		2197	4300	6497	SO:0001819	synonymous_variant	1387	exon4			AACCAGCTGCTGC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1071G>A	chr16.hg19:g.3843532C>T		141.0	0.0		136.0	60.0	NM_001079846	D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	hg19	CCDS10509.1																																																																																			.	.		0.498	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
GSG1L	146395	hgsc.bcm.edu	37	16	27840137	27840137	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr16:27840137G>T	ENST00000447459.2	-	5	887	c.803C>A	c.(802-804)cCt>cAt	p.P268H	GSG1L_ENST00000380898.2_Missense_Mutation_p.P113H|GSG1L_ENST00000395724.3_Missense_Mutation_p.P217H|GSG1L_ENST00000569166.1_Missense_Mutation_p.P113H|GSG1L_ENST00000380897.3_Missense_Mutation_p.P113H	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	268					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GATGGCCTCAGGGTCTATGAA	0.607																																					p.P268H		Atlas-SNP	.											GSG1L_ENST00000447459,right_upper_lobe,carcinoma,0,2	GSG1L	82	.	0			c.C803A						.						99.0	82.0	88.0					16																	27840137		2197	4300	6497	SO:0001583	missense	146395	exon5			GCCTCAGGGTCTA	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.803C>A	chr16.hg19:g.27840137G>T	ENSP00000394954:p.Pro268His	111.0	1.0		96.0	33.0	NM_001109763	Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	hg19	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511930	0.44660	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.32515	1.46;1.45	5.24	5.24	0.73138	.	0.149703	0.44097	D	0.000485	T	0.23965	0.0580	L	0.31578	0.945	0.43559	D	0.995879	B;B;B	0.22003	0.063;0.013;0.027	B;B;B	0.17433	0.018;0.018;0.01	T	0.03231	-1.1058	10	0.44086	T	0.13	.	13.2596	0.60098	0.0:0.0:0.8405:0.1594	.	217;113;268	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	H	268;217;113;113	ENSP00000394954:P268H;ENSP00000379074:P217H	ENSP00000370282:P113H	P	-	2	0	GSG1L	27747638	1.000000	0.71417	0.972000	0.41901	0.992000	0.81027	3.185000	0.50934	2.455000	0.83008	0.650000	0.86243	CCT	.	.		0.607	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675	
IRX5	10265	hgsc.bcm.edu	37	16	54966798	54966798	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr16:54966798C>G	ENST00000394636.4	+	2	975	c.638C>G	c.(637-639)cCc>cGc	p.P213R	IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Missense_Mutation_p.P147R|IRX5_ENST00000320990.5_Missense_Mutation_p.P213R|CTD-3032H12.2_ENST00000560487.1_lincRNA			P78411	IRX5_HUMAN	iroquois homeobox 5	213					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						AAGGGCGACCCCGAGGGCCCC	0.652																																					p.P213R		Atlas-SNP	.											.	IRX5	41	.	0			c.C638G						.						65.0	83.0	77.0					16																	54966798		2198	4300	6498	SO:0001583	missense	10265	exon2			GCGACCCCGAGGG	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.638C>G	chr16.hg19:g.54966798C>G	ENSP00000378132:p.Pro213Arg	416.0	0.0		351.0	100.0	NM_001252197	H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	hg19	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	C	0.170	-1.072352	0.01918	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.58652	0.32;0.36	4.14	-1.35	0.09114	.	1.190180	0.06065	N	0.659125	T	0.24699	0.0599	N	0.01874	-0.695	0.20074	N	0.999933	B	0.02656	0.0	B	0.04013	0.001	T	0.13019	-1.0525	10	0.15952	T	0.53	-0.3635	3.3736	0.07229	0.2847:0.3803:0.0:0.335	.	213	P78411	IRX5_HUMAN	R	213	ENSP00000378132:P213R;ENSP00000316250:P213R	ENSP00000316250:P213R	P	+	2	0	IRX5	53524299	0.238000	0.23825	0.778000	0.31720	0.564000	0.35744	1.177000	0.31969	-0.117000	0.11872	0.655000	0.94253	CCC	.	.		0.652	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2		
KIFC3	3801	hgsc.bcm.edu	37	16	57805281	57805281	+	Silent	SNP	C	C	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr16:57805281C>T	ENST00000379655.4	-	6	851	c.594G>A	c.(592-594)ctG>ctA	p.L198L	KIFC3_ENST00000445690.2_Silent_p.L198L|KIFC3_ENST00000541240.1_Silent_p.L220L|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000562903.1_Silent_p.L59L|KIFC3_ENST00000465878.2_Silent_p.L59L|KIFC3_ENST00000543930.1_Silent_p.L59L|KIFC3_ENST00000539578.1_Silent_p.L140L|KIFC3_ENST00000540079.2_Silent_p.L96L|KIFC3_ENST00000421376.2_Silent_p.L59L	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	198					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCAGCTCTGACAGCATGCCTT	0.617																																					p.L198L		Atlas-SNP	.											.	KIFC3	55	.	0			c.G594A						.						136.0	128.0	131.0					16																	57805281		2198	4300	6498	SO:0001819	synonymous_variant	3801	exon6			CTCTGACAGCATG	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.594G>A	chr16.hg19:g.57805281C>T		114.0	0.0		110.0	28.0	NM_001130100	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	hg19	CCDS10789.2																																																																																			.	.		0.617	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550	
RABEP1	9135	hgsc.bcm.edu	37	17	5286425	5286425	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr17:5286425A>T	ENST00000546142.2	+	18	2683	c.2496A>T	c.(2494-2496)ttA>ttT	p.L832F	NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Missense_Mutation_p.L799F|RABEP1_ENST00000537505.1_Missense_Mutation_p.L789F|RABEP1_ENST00000262477.6_Missense_Mutation_p.L832F|RABEP1_ENST00000341923.6_Missense_Mutation_p.L799F			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	832					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGGTGCAGTTAGAGCGGATCC	0.463																																					p.L832F		Atlas-SNP	.											.	RABEP1	59	.	0			c.A2496T						.						68.0	73.0	71.0					17																	5286425		2141	4295	6436	SO:0001583	missense	9135	exon18			GCAGTTAGAGCGG	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2496A>T	chr17.hg19:g.5286425A>T	ENSP00000437701:p.Leu832Phe	95.0	0.0		113.0	30.0	NM_004703	B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	hg19	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961887	0.74016	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.77358	-0.74;-1.09;-0.74;-1.09;-0.75	4.45	-2.59	0.06209	.	0.000000	0.64402	D	0.000002	T	0.76528	0.4000	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.73547	-0.3948	10	0.59425	D	0.04	-8.2226	9.1802	0.37136	0.2322:0.1505:0.6173:0.0	.	789;832;799	F5H355;Q15276;Q15276-2	.;RABE1_HUMAN;.	F	832;799;832;799;789	ENSP00000262477:L832F;ENSP00000386150:L799F;ENSP00000437701:L832F;ENSP00000339569:L799F;ENSP00000445408:L789F	ENSP00000262477:L832F	L	+	3	2	RABEP1	5227149	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	1.431000	0.34925	-0.243000	0.09653	0.460000	0.39030	TTA	.	.		0.463	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703	
TNFRSF13B	23495	hgsc.bcm.edu	37	17	16842939	16842939	+	Silent	SNP	C	C	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr17:16842939C>A	ENST00000261652.2	-	5	816	c.804G>T	c.(802-804)ctG>ctT	p.L268L	TNFRSF13B_ENST00000583789.1_Silent_p.L222L|TNFRSF13B_ENST00000437538.2_Intron|TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000579315.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	268					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GGCAAGGCTGCAGGACTGTGG	0.662									IgA Deficiency, Selective																												p.L268L		Atlas-SNP	.											.	TNFRSF13B	34	.	0			c.G804T						.						48.0	45.0	46.0					17																	16842939		2203	4300	6503	SO:0001819	synonymous_variant	23495	exon5	Familial Cancer Database	IGAD1, IGAD2	AGGCTGCAGGACT	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.804G>T	chr17.hg19:g.16842939C>A		125.0	0.0		112.0	22.0	NM_012452	B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Silent	SNP	ENST00000261652.2	hg19	CCDS11181.1																																																																																			.	.		0.662	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2		
DHRS13	147015	hgsc.bcm.edu	37	17	27228310	27228310	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr17:27228310G>A	ENST00000378895.4	-	4	506	c.380C>T	c.(379-381)tCc>tTc	p.S127F	DHRS13_ENST00000426464.2_Missense_Mutation_p.S46F|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Missense_Mutation_p.S77F|RP11-20B24.4_ENST00000580603.1_RNA|RP11-20B24.4_ENST00000579187.1_RNA	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	127						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCGGCCACAGGAACTGATACC	0.572																																					p.S127F		Atlas-SNP	.											.	DHRS13	22	.	0			c.C380T						.						46.0	49.0	48.0					17																	27228310		2203	4300	6503	SO:0001583	missense	147015	exon4			CCACAGGAACTGA	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.380C>T	chr17.hg19:g.27228310G>A	ENSP00000368173:p.Ser127Phe	212.0	0.0		204.0	89.0	NM_144683	Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	hg19	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610844	0.66558	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	D;D;D	0.87966	-2.32;-2.32;-1.73	5.58	5.58	0.84498	NAD(P)-binding domain (1);	0.420407	0.25453	N	0.030580	T	0.82001	0.4942	N	0.04162	-0.26	0.41503	D	0.988297	D;D	0.71674	0.997;0.998	D;D	0.68943	0.931;0.961	T	0.77446	-0.2585	10	0.10111	T	0.7	.	10.8193	0.46595	0.0:0.14:0.7151:0.1449	.	46;127	B4DJC5;Q6UX07	.;DHR13_HUMAN	F	127;77;46	ENSP00000368173:S127F;ENSP00000378361:S77F;ENSP00000412826:S46F	ENSP00000368173:S127F	S	-	2	0	DHRS13	24252436	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.469000	0.45110	2.625000	0.88918	0.561000	0.74099	TCC	.	.		0.572	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683	
CACNB1	782	hgsc.bcm.edu	37	17	37331579	37331579	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr17:37331579T>C	ENST00000394303.3	-	14	1871	c.1664A>G	c.(1663-1665)tAt>tGt	p.Y555C	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	555					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCTTCCTCATAGTCTTCTTC	0.647											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y555C	Esophageal Squamous(5;100 366 38393 41452 45827)	Atlas-SNP	.											.	CACNB1	89	.	0			c.A1664G						.						143.0	160.0	155.0					17																	37331579		1895	4093	5988	SO:0001583	missense	782	exon14			TCCTCATAGTCTT		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1664A>G	chr17.hg19:g.37331579T>C	ENSP00000377840:p.Tyr555Cys	62.0	0.0	869	85.0	12.0	NM_000723	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	hg19	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011863	0.35511	.	.	ENSG00000067191	ENST00000539338;ENST00000394303	T	0.76578	-1.03	4.28	3.2	0.36748	.	0.890681	0.09973	N	0.731967	T	0.58552	0.2130	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51973	-0.8637	10	0.48119	T	0.1	-1.1945	7.4332	0.27139	0.0:0.1825:0.0:0.8175	.	555	Q02641	CACB1_HUMAN	C	505;555	ENSP00000377840:Y555C	ENSP00000377840:Y555C	Y	-	2	0	CACNB1	34585105	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.120000	0.57897	0.979000	0.38497	0.459000	0.35465	TAT	.	.		0.647	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3		
ERBB2	2064	hgsc.bcm.edu	37	17	37872630	37872630	+	Silent	SNP	C	C	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr17:37872630C>T	ENST00000269571.5	+	13	1749	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	ERBB2_ENST00000406381.2_Silent_p.N500N|ERBB2_ENST00000584601.1_Silent_p.N500N|ERBB2_ENST00000578199.1_Silent_p.N500N|ERBB2_ENST00000540147.1_Silent_p.N500N|ERBB2_ENST00000445658.2_Silent_p.N254N|ERBB2_ENST00000541774.1_Silent_p.N515N|ERBB2_ENST00000584450.1_Silent_p.N530N|ERBB2_ENST00000540042.1_Silent_p.N500N			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	530					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	AGTGTGTCAACTGCAGCCAGT	0.692		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																											p.N530N		Atlas-SNP	.		Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	.	ERBB2	429	.	0			c.C1590T						.						29.0	30.0	30.0					17																	37872630		2202	4300	6502	SO:0001819	synonymous_variant	2064	exon13			TGTCAACTGCAGC	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1590C>T	chr17.hg19:g.37872630C>T		81.0	0.0		91.0	20.0	NM_004448	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	hg19	CCDS32642.1																																																																																			.	.		0.692	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		
KRT37	8688	hgsc.bcm.edu	37	17	39577655	39577655	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr17:39577655G>T	ENST00000225550.3	-	6	1204	c.1205C>A	c.(1204-1206)gCc>gAc	p.A402D	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	402	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CCGGTATGTGGCAATCTCGTT	0.557																																					p.A402D		Atlas-SNP	.											.	KRT37	61	.	0			c.C1205A						.						116.0	92.0	100.0					17																	39577655		2203	4300	6503	SO:0001583	missense	8688	exon6			TATGTGGCAATCT	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.1205C>A	chr17.hg19:g.39577655G>T	ENSP00000225550:p.Ala402Asp	142.0	0.0		125.0	40.0	NM_003770		Missense_Mutation	SNP	ENST00000225550.3	hg19	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758630	0.49468	.	.	ENSG00000108417	ENST00000225550	D	0.90788	-2.73	5.61	-5.8	0.02347	Filament (1);Intermediate filament protein, conserved site (1);	1.391630	0.04988	N	0.466811	D	0.92648	0.7664	M	0.88450	2.955	0.09310	N	1	P	0.43578	0.811	B	0.43413	0.419	D	0.84087	0.0388	10	0.23891	T	0.37	.	19.685	0.95977	0.0:0.0:0.2332:0.7668	.	402	O76014	KRT37_HUMAN	D	402	ENSP00000225550:A402D	ENSP00000225550:A402D	A	-	2	0	KRT37	36831181	0.000000	0.05858	0.000000	0.03702	0.561000	0.35649	0.036000	0.13819	-1.491000	0.01840	-0.274000	0.10170	GCC	.	.		0.557	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770	
PSMD12	5718	hgsc.bcm.edu	37	17	65343347	65343347	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr17:65343347T>C	ENST00000356126.3	-	7	787	c.680A>G	c.(679-681)tAt>tGt	p.Y227C	PSMD12_ENST00000357146.4_Missense_Mutation_p.Y207C	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	227					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					CATTAAATTATAGTACTTCAA	0.328																																					p.Y227C		Atlas-SNP	.											.	PSMD12	32	.	0			c.A680G						.						64.0	64.0	64.0					17																	65343347		2203	4300	6503	SO:0001583	missense	5718	exon7			AAATTATAGTACT	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.680A>G	chr17.hg19:g.65343347T>C	ENSP00000348442:p.Tyr227Cys	107.0	0.0		131.0	18.0	NM_002816	A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	hg19	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339571	0.81911	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.07327	3.2;3.2	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.28732	0.0712	M	0.88181	2.935	0.80722	D	1	P;P	0.42973	0.796;0.796	P;P	0.51016	0.656;0.656	T	0.04078	-1.0979	10	0.62326	D	0.03	-14.8374	16.3593	0.83251	0.0:0.0:0.0:1.0	.	207;227	A6NP15;O00232	.;PSD12_HUMAN	C	227;207	ENSP00000348442:Y227C;ENSP00000349667:Y207C	ENSP00000348442:Y227C	Y	-	2	0	PSMD12	62773809	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.680000	0.84062	2.267000	0.75376	0.383000	0.25322	TAT	.	.		0.328	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871	
ESCO1	114799	hgsc.bcm.edu	37	18	19154672	19154672	+	Missense_Mutation	SNP	T	T	C	rs141644808		TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr18:19154672T>C	ENST00000269214.5	-	4	1070	c.133A>G	c.(133-135)Ata>Gta	p.I45V		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	45					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TGTGATTTTATAGTCTCCTTT	0.343																																					p.I45V		Atlas-SNP	.											.	ESCO1	89	.	0			c.A133G						.	T	VAL/ILE	0,4406		0,0,2203	171.0	173.0	172.0		133	-9.1	0.0	18	dbSNP_134	172	1,8599	1.2+/-3.3	0,1,4299	no	missense	ESCO1	NM_052911.2	29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	45/841	19154672	1,13005	2203	4300	6503	SO:0001583	missense	114799	exon4			ATTTTATAGTCTC	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.133A>G	chr18.hg19:g.19154672T>C	ENSP00000269214:p.Ile45Val	82.0	0.0		76.0	9.0	NM_052911	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	hg19	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.931792	0.00053	0.0	1.16E-4	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.56275	0.47;2.05	5.39	-9.12	0.00707	.	2.117430	0.02190	N	0.061304	T	0.22589	0.0545	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12243	-1.0555	10	0.29301	T	0.29	-26.8966	2.6763	0.05082	0.1721:0.3795:0.0851:0.3634	.	45	Q5FWF5	ESCO1_HUMAN	V	45	ENSP00000269214:I45V;ENSP00000372763:I45V	ENSP00000269214:I45V	I	-	1	0	ESCO1	17408670	0.000000	0.05858	0.002000	0.10522	0.104000	0.19210	-0.932000	0.03963	-2.140000	0.00806	-0.904000	0.02843	ATA	.	T|1.000;C|0.000		0.343	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911	
ZNF396	252884	hgsc.bcm.edu	37	18	32953439	32953439	+	Silent	SNP	A	A	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr18:32953439A>C	ENST00000589332.1	-	3	674	c.543T>G	c.(541-543)ctT>ctG	p.L181L	ZNF396_ENST00000306346.1_Silent_p.L181L|ZNF396_ENST00000586687.1_Silent_p.L181L			Q96N95	ZN396_HUMAN	zinc finger protein 396	181					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TTAAGGACTGAAGCTCCCATG	0.522																																					p.L181L		Atlas-SNP	.											.	ZNF396	28	.	0			c.T543G						.						110.0	100.0	103.0					18																	32953439		2203	4300	6503	SO:0001819	synonymous_variant	252884	exon3			GGACTGAAGCTCC	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.543T>G	chr18.hg19:g.32953439A>C		96.0	0.0		92.0	52.0	NM_145756	A1L3V0|Q8NF98|Q8TD80	Silent	SNP	ENST00000589332.1	hg19																																																																																				.	.		0.522	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756	
DCC	1630	hgsc.bcm.edu	37	18	51057014	51057014	+	Silent	SNP	A	A	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr18:51057014A>C	ENST00000442544.2	+	29	4951	c.4335A>C	c.(4333-4335)tcA>tcC	p.S1445S	RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1445					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCACAGGCTCAGCCTTTTAAC	0.423																																					p.S1445S		Atlas-SNP	.											.	DCC	360	.	0			c.A4335C						.						129.0	118.0	122.0					18																	51057014		2203	4300	6503	SO:0001819	synonymous_variant	1630	exon29			AGGCTCAGCCTTT	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.4335A>C	chr18.hg19:g.51057014A>C		115.0	0.0		102.0	39.0	NM_005215		Silent	SNP	ENST00000442544.2	hg19	CCDS11952.1																																																																																			.	.		0.423	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
SERPINB10	5273	hgsc.bcm.edu	37	18	61597343	61597343	+	Silent	SNP	C	C	T	rs550376818		TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr18:61597343C>T	ENST00000238508.3	+	6	614	c.555C>T	c.(553-555)aaC>aaT	p.N185N		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	185					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TTCTGGTGAACGCCCTATACT	0.393																																					p.N185N		Atlas-SNP	.											.	SERPINB10	53	.	0			c.C555T						.						84.0	84.0	84.0					18																	61597343		2203	4299	6502	SO:0001819	synonymous_variant	5273	exon5			GGTGAACGCCCTA	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.555C>T	chr18.hg19:g.61597343C>T		130.0	0.0		122.0	32.0	NM_005024	Q4VAX4|Q4VAX7	Silent	SNP	ENST00000238508.3	hg19	CCDS11990.1																																																																																			.	.		0.393	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024	
CBLN2	147381	hgsc.bcm.edu	37	18	70205499	70205499	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr18:70205499T>C	ENST00000269503.4	-	5	1360	c.587A>G	c.(586-588)gAc>gGc	p.D196G	CBLN2_ENST00000584764.1_Missense_Mutation_p.D80G|CBLN2_ENST00000581073.1_Missense_Mutation_p.D82G|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000585159.1_Missense_Mutation_p.D196G	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	196	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				ATGCACTTTGTCTTCCCTTTC	0.522																																					p.D196G		Atlas-SNP	.											.	CBLN2	41	.	0			c.A587G						.						122.0	115.0	117.0					18																	70205499		2203	4300	6503	SO:0001583	missense	147381	exon5			ACTTTGTCTTCCC	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.587A>G	chr18.hg19:g.70205499T>C	ENSP00000269503:p.Asp196Gly	141.0	0.0		136.0	19.0	NM_182511	Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	hg19	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.743758	0.49151	.	.	ENSG00000141668	ENST00000269503	D	0.85556	-2.0	5.52	5.52	0.82312	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.95098	0.8412	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96713	0.9527	10	0.87932	D	0	-32.3275	15.938	0.79729	0.0:0.0:0.0:1.0	.	196	Q8IUK8	CBLN2_HUMAN	G	196	ENSP00000269503:D196G	ENSP00000269503:D196G	D	-	2	0	CBLN2	68356479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.990000	0.88215	2.222000	0.72286	0.533000	0.62120	GAC	.	.		0.522	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511	
CLEC4G	339390	hgsc.bcm.edu	37	19	7795687	7795687	+	Silent	SNP	C	C	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr19:7795687C>G	ENST00000328853.5	-	5	410	c.342G>C	c.(340-342)gcG>gcC	p.A114A	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	114						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCATCAGCTTCGCCTGCGCCT	0.766																																					p.A114A	Esophageal Squamous(146;540 1807 3349 19438 30853)	Atlas-SNP	.											.	CLEC4G	18	.	0			c.G342C						.						3.0	4.0	3.0					19																	7795687		1565	3031	4596	SO:0001819	synonymous_variant	339390	exon5			CAGCTTCGCCTGC	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.342G>C	chr19.hg19:g.7795687C>G		26.0	0.0		40.0	14.0	NM_198492		Silent	SNP	ENST00000328853.5	hg19	CCDS12185.1																																																																																			.	.		0.766	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492	
ZNF561	93134	hgsc.bcm.edu	37	19	9721732	9721732	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr19:9721732C>T	ENST00000302851.3	-	6	968	c.605G>A	c.(604-606)tGt>tAt	p.C202Y	ZNF561_ENST00000354661.4_Missense_Mutation_p.C66Y|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.C133Y	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GCCTTTTCCACATTCCTTACA	0.383																																					p.C202Y		Atlas-SNP	.											.	ZNF561	64	.	0			c.G605A						.						63.0	57.0	59.0					19																	9721732		2203	4300	6503	SO:0001583	missense	93134	exon6			TTTCCACATTCCT	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.605G>A	chr19.hg19:g.9721732C>T	ENSP00000303915:p.Cys202Tyr	92.0	0.0		105.0	31.0	NM_152289	B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	hg19	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232822	0.58777	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661;ENST00000444611	D;D;D;D	0.99974	-10.2;-10.2;-10.2;-10.2	1.14	-0.0931	0.13652	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.99964	0.9986	M	0.88570	2.965	0.32493	N	0.539905	D	0.55385	0.971	P	0.55161	0.77	D	0.94280	0.7519	9	0.87932	D	0	.	6.089	0.19983	0.3018:0.6982:0.0:0.0	.	202	Q8N587	ZN561_HUMAN	Y	133;202;66;208	ENSP00000393074:C133Y;ENSP00000303915:C202Y;ENSP00000346687:C66Y;ENSP00000392013:C208Y	ENSP00000303915:C202Y	C	-	2	0	ZNF561	9582732	0.241000	0.23857	0.004000	0.12327	0.696000	0.40369	3.028000	0.49705	0.009000	0.14813	0.305000	0.20034	TGT	.	.		0.383	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289	
KEAP1	9817	hgsc.bcm.edu	37	19	10602646	10602646	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr19:10602646T>A	ENST00000171111.5	-	3	1479	c.932A>T	c.(931-933)cAc>cTc	p.H311L	KEAP1_ENST00000393623.2_Missense_Mutation_p.H311L|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	311					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CGTGGGCTTGTGCAGGGTGAG	0.637																																					p.H311L		Atlas-SNP	.											.	KEAP1	182	.	0			c.A932T						.						45.0	50.0	48.0					19																	10602646		2203	4300	6503	SO:0001583	missense	9817	exon3			GGCTTGTGCAGGG	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.932A>T	chr19.hg19:g.10602646T>A	ENSP00000171111:p.His311Leu	106.0	0.0		102.0	54.0	NM_012289	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	hg19	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241881	0.58995	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.71103	-0.54;-0.54	5.61	4.59	0.56863	.	0.048905	0.85682	D	0.000000	T	0.57007	0.2024	L	0.27053	0.805	0.80722	D	1	B	0.14805	0.011	B	0.10450	0.005	T	0.52548	-0.8561	10	0.52906	T	0.07	.	10.3323	0.43829	0.1471:0.0:0.0:0.8529	.	311	Q14145	KEAP1_HUMAN	L	311	ENSP00000171111:H311L;ENSP00000377245:H311L	ENSP00000171111:H311L	H	-	2	0	KEAP1	10463646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.610000	0.67668	0.949000	0.37715	0.459000	0.35465	CAC	.	.		0.637	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289	
KEAP1	9817	hgsc.bcm.edu	37	19	10610207	10610207	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr19:10610207A>C	ENST00000171111.5	-	2	1050	c.503T>G	c.(502-504)gTc>gGc	p.V168G	KEAP1_ENST00000393623.2_Missense_Mutation_p.V168G|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	168					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GCAGGCACGGACAACGCTGTC	0.582																																					p.V168G		Atlas-SNP	.											.	KEAP1	182	.	0			c.T503G						.						162.0	129.0	140.0					19																	10610207		2203	4300	6503	SO:0001583	missense	9817	exon2			GCACGGACAACGC	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.503T>G	chr19.hg19:g.10610207A>C	ENSP00000171111:p.Val168Gly	113.0	0.0		115.0	39.0	NM_012289	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	hg19	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.249198	0.80024	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.72835	-0.69;-0.69	4.81	4.81	0.61882	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.060844	0.64402	D	0.000004	T	0.80330	0.4603	M	0.76574	2.34	0.80722	D	1	D	0.61080	0.989	P	0.60012	0.867	T	0.81568	-0.0873	10	0.49607	T	0.09	.	12.3271	0.55018	1.0:0.0:0.0:0.0	.	168	Q14145	KEAP1_HUMAN	G	168	ENSP00000171111:V168G;ENSP00000377245:V168G	ENSP00000171111:V168G	V	-	2	0	KEAP1	10471207	1.000000	0.71417	0.961000	0.40146	0.813000	0.45954	4.914000	0.63348	1.811000	0.52892	0.459000	0.35465	GTC	.	.		0.582	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289	
ZNF625	90589	hgsc.bcm.edu	37	19	12256356	12256356	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr19:12256356T>C	ENST00000355738.1	-	4	1026	c.677A>G	c.(676-678)tAt>tGt	p.Y226C	ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Missense_Mutation_p.Y292C|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000542938.1_Missense_Mutation_p.Y226C|CTC-359D24.3_ENST00000472362.1_RNA			Q96I27	ZN625_HUMAN	zinc finger protein 625	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(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TCTTTCATGATATCGAACGGA	0.453																																					p.Y292C		Atlas-SNP	.											.	ZNF625	37	.	0			c.A875G						.						123.0	117.0	119.0					19																	12256356		2203	4300	6503	SO:0001583	missense	90589	exon4			TCATGATATCGAA	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.677A>G	chr19.hg19:g.12256356T>C	ENSP00000347977:p.Tyr226Cys	132.0	0.0		169.0	50.0	NM_145233	A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	hg19		.	.	.	.	.	.	.	.	.	.	T	12.39	1.922580	0.33908	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.19669	2.13;2.13;2.13	0.856	-1.71	0.08133	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22044	0.0531	L	0.27053	0.805	0.09310	N	1	P;D	0.67145	0.89;0.996	B;D	0.65443	0.279;0.935	T	0.10268	-1.0637	9	0.36615	T	0.2	.	1.862	0.03190	0.2922:0.0:0.2933:0.4145	.	226;226	A8K8U0;Q96I27	.;ZN625_HUMAN	C	226;226;292	ENSP00000438436:Y226C;ENSP00000347977:Y226C;ENSP00000394380:Y292C	ENSP00000347977:Y226C	Y	-	2	0	AC022415.5	12117356	0.000000	0.05858	0.000000	0.03702	0.882000	0.50991	-3.830000	0.00355	-1.219000	0.02597	0.260000	0.18958	TAT	.	.		0.453	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233	
PTGER1	5731	hgsc.bcm.edu	37	19	14583393	14583393	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr19:14583393G>C	ENST00000292513.3	-	3	1305	c.1188C>G	c.(1186-1188)caC>caG	p.H396Q		NM_000955.2	NP_000946.2	P34995	PE2R1_HUMAN	prostaglandin E receptor 1 (subtype EP1), 42kDa	396					G-protein coupled receptor signaling pathway (GO:0007186)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)									Alprostadil(DB00770)|Bimatoprost(DB00905)|Bupivacaine(DB00297)|Carboprost Tromethamine(DB00429)|Dinoprostone(DB00917)|Iloprost(DB01088)	TGAGGCCGCTGTGCCGGGAGC	0.706																																					p.H396Q		Atlas-SNP	.											.	PTGER1	5	.	0			c.C1188G						.						11.0	12.0	12.0					19																	14583393		2198	4293	6491	SO:0001583	missense	5731	exon3			GCCGCTGTGCCGG		CCDS12309.1	19p13.1	2012-08-08	2002-08-29		ENSG00000160951	ENSG00000160951		"""GPCR / Class A : Prostanoid receptors"""	9593	protein-coding gene	gene with protein product		176802	"""prostaglandin E receptor 1 (subtype EP1), 42kD"""			8253813	Standard	NM_000955		Approved	EP1	uc002mys.3	P34995	OTTHUMG00000039610	ENST00000292513.3:c.1188C>G	chr19.hg19:g.14583393G>C	ENSP00000292513:p.His396Gln	59.0	0.0		65.0	13.0	NM_000955	Q5U5U4|Q86UH3|Q86VB5|Q8NHB2	Missense_Mutation	SNP	ENST00000292513.3	hg19	CCDS12309.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481661	0.44147	.	.	ENSG00000160951	ENST00000292513	T	0.16597	2.33	4.49	2.24	0.28232	.	0.421858	0.25011	N	0.033838	T	0.11922	0.0290	L	0.27053	0.805	0.24115	N	0.995822	B	0.02656	0.0	B	0.04013	0.001	T	0.22138	-1.0225	10	0.33141	T	0.24	-16.0678	12.2205	0.54431	0.0:0.3298:0.6702:0.0	.	396	P34995	PE2R1_HUMAN	Q	396	ENSP00000292513:H396Q	ENSP00000292513:H396Q	H	-	3	2	PTGER1	14444393	1.000000	0.71417	0.995000	0.50966	0.758000	0.43043	2.094000	0.41719	0.476000	0.27440	0.561000	0.74099	CAC	.	.		0.706	PTGER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095509.1		
ZNF98	148198	hgsc.bcm.edu	37	19	22575383	22575384	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr19:22575383_22575384GG>AT	ENST00000357774.5	-	4	774_775	c.653_654CC>AT	c.(652-654)gCC>gAT	p.A218D		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CCTCATTATAGGCTTTCCCACA	0.376																																					p.A218A|p.A218D		Atlas-SNP	.											.	ZNF98	230	.	0			c.C654T|c.C653A						.																																			SO:0001583	missense	148198	exon4			ATTATAGGCTTTC|TTATAGGCTTTCC		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.653_654delinsAT	chr19.hg19:g.22575383_22575384delinsAT	ENSP00000350418:p.Ala218Asp	456.0|449.0	0.0		535.0|531.0	171.0|170.0	NM_001098626		Silent|Missense_Mutation	SNP	ENST00000357774.5	hg19	CCDS46031.1																																																																																			.	.		0.376	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626	
ZNF573	126231	hgsc.bcm.edu	37	19	38230022	38230022	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr19:38230022G>T	ENST00000590414.2	-	4	1390	c.1369C>A	c.(1369-1371)Ctt>Att	p.L457I	ZNF573_ENST00000536220.1_Missense_Mutation_p.L369I|ZNF573_ENST00000339503.4_Missense_Mutation_p.L399I|ZNF573_ENST00000392138.1_Missense_Mutation_p.L370I|ZNF573_ENST00000357309.3_Missense_Mutation_p.L369I			Q86YE8	ZN573_HUMAN	zinc finger protein 573	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGTCGAGTAAGATTTCTATAC	0.353																																					p.L457I		Atlas-SNP	.											.	ZNF573	63	.	0			c.C1369A						.						78.0	82.0	80.0					19																	38230022		2203	4300	6503	SO:0001583	missense	126231	exon5			GAGTAAGATTTCT	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1369C>A	chr19.hg19:g.38230022G>T	ENSP00000465020:p.Leu457Ile	155.0	0.0		224.0	40.0	NM_001172690	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	hg19	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546410	0.45383	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	2.19	2.19	0.27852	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.74366	0.3707	M	0.91872	3.25	0.09310	N	1	P;P;P;P	0.51791	0.936;0.936;0.948;0.936	P;P;P;P	0.62740	0.847;0.847;0.906;0.847	T	0.63989	-0.6512	9	0.87932	D	0	.	11.0686	0.47989	0.0:0.0:1.0:0.0	.	370;399;437;369	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	I	370;369;369;399;369	ENSP00000375983:L370I;ENSP00000440464:L369I;ENSP00000349861:L369I;ENSP00000340171:L399I	ENSP00000340171:L399I	L	-	1	0	ZNF573	42921862	0.009000	0.17119	0.998000	0.56505	0.985000	0.73830	0.890000	0.28295	1.045000	0.40225	0.585000	0.79938	CTT	.	.		0.353	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360	
WDR87	83889	hgsc.bcm.edu	37	19	38379360	38379360	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr19:38379360C>G	ENST00000303868.5	-	6	5058	c.4834G>C	c.(4834-4836)Gaa>Caa	p.E1612Q	WDR87_ENST00000447313.2_Missense_Mutation_p.E1651Q	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1612	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TTTCTCTCTTCCTGGGCCAAC	0.493																																					p.E1612Q		Atlas-SNP	.											.	WDR87	191	.	0			c.G4834C						.						100.0	71.0	80.0					19																	38379360		692	1591	2283	SO:0001583	missense	83889	exon6			TCTCTTCCTGGGC	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.4834G>C	chr19.hg19:g.38379360C>G	ENSP00000368025:p.Glu1612Gln	182.0	0.0		296.0	22.0	NM_031951	Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	hg19	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719495	0.30503	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.50548	0.74;0.74	4.11	1.95	0.26073	.	.	.	.	.	T	0.46464	0.1394	N	0.20986	0.625	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.64410	0.925;0.925	T	0.25293	-1.0136	9	0.32370	T	0.25	.	6.4461	0.21877	0.0:0.6744:0.0:0.3256	.	1612;1651	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	Q	1651;1612	ENSP00000405012:E1651Q;ENSP00000368025:E1612Q	ENSP00000368025:E1612Q	E	-	1	0	WDR87	43071200	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.006000	0.12833	0.447000	0.26695	0.442000	0.29010	GAA	.	.		0.493	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2	XM_940478	
GYS1	2997	hgsc.bcm.edu	37	19	49473108	49473108	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr19:49473108T>C	ENST00000323798.3	-	15	2010	c.1814A>G	c.(1813-1815)tAt>tGt	p.Y605C	GYS1_ENST00000541188.1_Missense_Mutation_p.Y525C|GYS1_ENST00000263276.6_Missense_Mutation_p.Y541C|GYS1_ENST00000544287.1_Missense_Mutation_p.Y238C	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	605					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CGCAGACATATAGTACTAGGG	0.597																																					p.Y605C		Atlas-SNP	.											.	GYS1	59	.	0			c.A1814G						.						47.0	45.0	46.0					19																	49473108		2203	4300	6503	SO:0001583	missense	2997	exon15			GACATATAGTACT		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1814A>G	chr19.hg19:g.49473108T>C	ENSP00000317904:p.Tyr605Cys	26.0	0.0		38.0	4.0	NM_002103	Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	hg19	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297981	0.60086	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.85712	0.5760	M	0.79614	2.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.87512	0.2440	10	0.87932	D	0	-18.1798	13.7359	0.62817	0.0:0.0:0.0:1.0	.	525;541;605	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	C	605;541;525;238	ENSP00000317904:Y605C;ENSP00000263276:Y541C;ENSP00000437922:Y525C;ENSP00000444004:Y238C	ENSP00000263276:Y541C	Y	-	2	0	GYS1	54164920	1.000000	0.71417	0.992000	0.48379	0.163000	0.22366	7.090000	0.76916	2.197000	0.70478	0.533000	0.62120	TAT	.	.		0.597	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103	
ZNF577	84765	hgsc.bcm.edu	37	19	52375982	52375982	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr19:52375982C>T	ENST00000301399.5	-	7	1626	c.1261G>A	c.(1261-1263)Gga>Aga	p.G421R	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.G362R|ZNF577_ENST00000451628.2_Missense_Mutation_p.G362R	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GGCGGGGTTCCTGAGGAAGGC	0.433																																					p.G421R		Atlas-SNP	.											.	ZNF577	63	.	0			c.G1261A						.						60.0	61.0	61.0					19																	52375982		2203	4300	6503	SO:0001583	missense	84765	exon7			GGGTTCCTGAGGA	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1261G>A	chr19.hg19:g.52375982C>T	ENSP00000301399:p.Gly421Arg	122.0	0.0		152.0	12.0	NM_032679	A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	hg19	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	7.010	0.556663	0.13436	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.05996	3.37;3.42;3.42;3.36	2.51	0.367	0.16140	.	.	.	.	.	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.09377	0.002;0.004	T	0.43015	-0.9417	9	0.66056	D	0.02	.	2.3681	0.04324	0.2395:0.4756:0.0:0.2849	.	421;362	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	R	421;362;362;421	ENSP00000301399:G421R;ENSP00000413476:G362R;ENSP00000389652:G362R;ENSP00000404509:G421R	ENSP00000301399:G421R	G	-	1	0	ZNF577	57067794	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.012000	0.12699	0.142000	0.18901	-0.137000	0.14449	GGA	.	.		0.433	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679	
TTYH1	57348	hgsc.bcm.edu	37	19	54947007	54947007	+	Splice_Site	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr19:54947007G>A	ENST00000376530.3	+	12	1371		c.e12-1		AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000301194.4_Splice_Site|TTYH1_ENST00000489425.1_Splice_Site|TTYH1_ENST00000391739.3_Splice_Site|TTYH1_ENST00000376531.3_Intron|CTD-2587H19.2_ENST00000596631.1_RNA|CTD-2587H19.3_ENST00000597355.1_lincRNA|AC008746.12_ENST00000599382.1_lincRNA	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1						cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TCAAACCCCAGTGACGACTAC	0.662																																					.		Atlas-SNP	.											.	TTYH1	78	.	0			c.1269-1G>A						.						124.0	113.0	117.0					19																	54947007		2203	4300	6503	SO:0001630	splice_region_variant	57348	exon12			ACCCCAGTGACGA	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.1269-1G>A	chr19.hg19:g.54947007G>A		97.0	0.0		91.0	35.0	NM_020659	B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Splice_Site	SNP	ENST00000376530.3	hg19	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196897	0.58126	.	.	ENSG00000167614	ENST00000301194;ENST00000376530	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9331	0.64007	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTYH1	59638819	1.000000	0.71417	0.993000	0.49108	0.871000	0.50021	5.846000	0.69444	1.946000	0.56461	0.561000	0.74099	.	.	.		0.662	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1		Intron
RALGAPA2	57186	hgsc.bcm.edu	37	20	20505080	20505080	+	Silent	SNP	G	G	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr20:20505080G>A	ENST00000202677.7	-	30	3877	c.3870C>T	c.(3868-3870)gcC>gcT	p.A1290A		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1290					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGGGGGCTCTGGCCGAATGCT	0.542																																					p.A1290A		Atlas-SNP	.											.	RALGAPA2	274	.	0			c.C3870T						.						44.0	44.0	44.0					20																	20505080		1977	4160	6137	SO:0001819	synonymous_variant	57186	exon30			GGCTCTGGCCGAA	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3870C>T	chr20.hg19:g.20505080G>A		59.0	0.0		28.0	10.0	NM_020343	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	ENST00000202677.7	hg19	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	5.022	0.189811	0.09547	.	.	ENSG00000188559	ENST00000430436	.	.	.	5.54	0.759	0.18438	.	.	.	.	.	T	0.35508	0.0934	.	.	.	0.29569	N	0.850053	.	.	.	.	.	.	T	0.34576	-0.9823	4	.	.	.	.	9.4696	0.38833	0.4709:0.0:0.5291:0.0	.	.	.	.	L	1107	.	.	P	-	2	0	RALGAPA2	20453080	0.998000	0.40836	0.134000	0.22075	0.598000	0.36846	0.543000	0.23237	0.252000	0.21531	0.650000	0.86243	CCA	.	.		0.542	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	
DEFB116	245930	hgsc.bcm.edu	37	20	29891100	29891100	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr20:29891100A>G	ENST00000400549.1	-	2	223	c.224T>C	c.(223-225)aTa>aCa	p.I75T		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	75					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGAACTGGTTATTTTCACAGA	0.393																																					p.I75T		Atlas-SNP	.											.	DEFB116	18	.	0			c.T224C						.						348.0	313.0	324.0					20																	29891100		1857	4100	5957	SO:0001583	missense	245930	exon2			CTGGTTATTTTCA	DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"""Defensins, beta"""	18097	protein-coding gene	gene with protein product	"""defensin, beta 16"""					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.224T>C	chr20.hg19:g.29891100A>G	ENSP00000383396:p.Ile75Thr	114.0	0.0		123.0	10.0	NM_001037731		Missense_Mutation	SNP	ENST00000400549.1	hg19	CCDS42860.1	.	.	.	.	.	.	.	.	.	.	A	6.093	0.385461	0.11524	.	.	ENSG00000215545	ENST00000400549	T	0.21031	2.03	3.32	-4.84	0.03151	.	.	.	.	.	T	0.10508	0.0257	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27839	-1.0062	9	0.39692	T	0.17	-11.8605	4.111	0.10058	0.2738:0.0:0.4129:0.3132	.	75	Q30KQ4	DB116_HUMAN	T	75	ENSP00000383396:I75T	ENSP00000383396:I75T	I	-	2	0	DEFB116	29354761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.277000	0.02812	-1.253000	0.02488	-1.981000	0.00455	ATA	.	.		0.393	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354403.1	NM_001037731	
SUN5	140732	hgsc.bcm.edu	37	20	31573549	31573549	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr20:31573549A>G	ENST00000356173.3	-	11	982	c.890T>C	c.(889-891)gTc>gCc	p.V297A	SUN5_ENST00000375523.3_Missense_Mutation_p.V272A	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	297	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CACATAGATGACGAAGTCCTT	0.537																																					p.V297A		Atlas-SNP	.											.	SUN5	63	.	0			c.T890C						.						124.0	97.0	106.0					20																	31573549		2203	4300	6503	SO:0001583	missense	140732	exon11			TAGATGACGAAGT	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.890T>C	chr20.hg19:g.31573549A>G	ENSP00000348496:p.Val297Ala	110.0	0.0		155.0	28.0	NM_080675	A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	hg19	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	A	4.780	0.144960	0.09134	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.40225	1.04;1.04	5.71	4.62	0.57501	Sad1/UNC-like, C-terminal (2);	0.266290	0.37261	N	0.002171	T	0.14399	0.0348	N	0.02960	-0.455	0.80722	D	1	P	0.38420	0.63	B	0.34873	0.191	T	0.18147	-1.0346	10	0.07030	T	0.85	-48.6352	7.6337	0.28253	0.9073:0.0:0.0927:0.0	.	297	Q8TC36	SUN5_HUMAN	A	297;272	ENSP00000348496:V297A;ENSP00000364673:V272A	ENSP00000348496:V297A	V	-	2	0	SUN5	31037210	0.996000	0.38824	0.998000	0.56505	0.347000	0.29111	3.781000	0.55394	2.171000	0.68590	0.533000	0.62120	GTC	.	.		0.537	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675	
BPIFA3	128861	hgsc.bcm.edu	37	20	31812207	31812207	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr20:31812207T>C	ENST00000375454.3	+	3	535	c.325T>C	c.(325-327)Tca>Cca	p.S109P	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Intron	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	109						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GATCCAGATATCATTCCATAA	0.488																																					p.S109P		Atlas-SNP	.											.	.	.	.	0			c.T325C						.						172.0	153.0	159.0					20																	31812207		2203	4300	6503	SO:0001583	missense	128861	exon3			CAGATATCATTCC		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.325T>C	chr20.hg19:g.31812207T>C	ENSP00000364603:p.Ser109Pro	97.0	0.0		109.0	19.0	NM_178466	Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	hg19	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854169	0.32791	.	.	ENSG00000131059	ENST00000375454	T	0.07327	3.2	4.35	2.03	0.26663	.	0.734404	0.12296	N	0.481572	T	0.12987	0.0315	L	0.29908	0.895	0.43959	D	0.996632	D	0.59767	0.986	D	0.63283	0.913	T	0.21586	-1.0241	10	0.72032	D	0.01	-0.2133	4.4048	0.11404	0.0:0.1063:0.2126:0.6811	.	109	Q9BQP9	BPIA3_HUMAN	P	109	ENSP00000364603:S109P	ENSP00000364603:S109P	S	+	1	0	BPIFA3	31275868	0.995000	0.38212	0.626000	0.29213	0.088000	0.18126	0.967000	0.29344	0.433000	0.26313	0.460000	0.39030	TCA	.	.		0.488	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466	
JAM2	58494	hgsc.bcm.edu	37	21	27086971	27086971	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr21:27086971C>G	ENST00000480456.1	+	10	1434	c.884C>G	c.(883-885)tCc>tGc	p.S295C	JAM2_ENST00000312957.5_Missense_Mutation_p.S295C|JAM2_ENST00000477351.1_3'UTR|JAM2_ENST00000425221.2_Missense_Mutation_p.S259C	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	295					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CACACAAAATCCTTTATAATT	0.284																																					p.S295C		Atlas-SNP	.											.	JAM2	33	.	0			c.C884G						.						54.0	54.0	54.0					21																	27086971		1784	4055	5839	SO:0001583	missense	58494	exon10			CAAAATCCTTTAT	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.884C>G	chr21.hg19:g.27086971C>G	ENSP00000420419:p.Ser295Cys	641.0	0.0		636.0	96.0	NM_021219	B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	hg19	CCDS42911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.40|18.40	3.615902|3.615902	0.66672|0.66672	.|.	.|.	ENSG00000154721|ENSG00000154721	ENST00000400533|ENST00000480456;ENST00000400537;ENST00000312957;ENST00000425221	.|D;D;D	.|0.82984	.|-1.67;-1.67;-1.67	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|.	.|.	.|.	.|.	D|D	0.90407|0.90407	0.6997|0.6997	M|M	0.75615|0.75615	2.305|2.305	0.58432|0.58432	D|D	0.999998|0.999998	B|D;D;D	0.19200|0.89917	0.034|1.0;1.0;1.0	B|D;D;D	0.14023|0.87578	0.01|0.998;0.997;0.998	D|D	0.91256|0.91256	0.5033|0.5033	8|9	0.87932|0.87932	D|D	0|0	.|.	15.3828|15.3828	0.74673|0.74673	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	277|259;291;295	A8MXS1|B4DGT9;A8MTB0;P57087	.|.;.;JAM2_HUMAN	A|C	277|295;291;295;259	.|ENSP00000420419:S295C;ENSP00000318416:S295C;ENSP00000392611:S259C	ENSP00000383377:P277A|ENSP00000318416:S295C	P|S	+|+	1|2	0|0	JAM2|JAM2	26008842|26008842	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	4.114000|4.114000	0.57858|0.57858	2.674000|2.674000	0.91012|0.91012	0.650000|0.650000	0.86243|0.86243	CCT|TCC	.	.		0.284	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1		
NCF4	4689	hgsc.bcm.edu	37	22	37272032	37272032	+	Intron	SNP	A	A	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr22:37272032A>T	ENST00000248899.6	+	9	942				NCF4_ENST00000397147.4_Missense_Mutation_p.Q322L	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	CCCCACTTCCAGCCTGATGCC	0.592																																					p.Q322L		Atlas-SNP	.											.	NCF4	66	.	0			c.A965T						.						27.0	27.0	27.0					22																	37272032		2203	4300	6503	SO:0001627	intron_variant	4689	exon8			ACTTCCAGCCTGA	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.759-39A>T	chr22.hg19:g.37272032A>T		159.0	0.0		171.0	21.0	NM_013416	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	hg19	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303172	0.23736	.	.	ENSG00000100365	ENST00000397147	T	0.59083	0.29	4.13	-8.25	0.01025	.	2.558080	0.01337	N	0.011457	T	0.32556	0.0833	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20405	-1.0276	8	.	.	.	.	2.5763	0.04807	0.3988:0.1953:0.308:0.0979	.	322	A8K4F9	.	L	322	ENSP00000380334:Q322L	.	Q	+	2	0	NCF4	35601978	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.510000	0.02262	-2.824000	0.00342	-0.911000	0.02809	CAG	.	.		0.592	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631	
CYP2D6	1565	hgsc.bcm.edu	37	22	42525795	42525795	+	Silent	SNP	G	G	C	rs200269944		TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr22:42525795G>C	ENST00000360608.5	-	2	411	c.297C>G	c.(295-297)gcC>gcG	p.A99A	CYP2D6_ENST00000389970.3_Silent_p.A99A|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Silent_p.A99A|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000608288.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	99					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GCGGGCGGTCGGCGGTGTCCT	0.701																																					p.A99A		Atlas-SNP	.											.	CYP2D6	104	.	0			c.C297G						.						16.0	18.0	18.0					22																	42525795		2182	4267	6449	SO:0001819	synonymous_variant	1565	exon2			GCGGTCGGCGGTG	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.297C>G	chr22.hg19:g.42525795G>C		225.0	0.0		292.0	18.0	NM_000106	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	hg19	CCDS46721.1																																																																																			.	G|0.998;A|0.002		0.701	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		
ASMT	438	hgsc.bcm.edu	37	X	1761898	1761898	+	Silent	SNP	C	C	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chrX:1761898C>G	ENST00000381229.4	+	8	1065	c.1029C>G	c.(1027-1029)gcC>gcG	p.A343A	ASMT_ENST00000381233.3_Silent_p.A296A|ASMT_ENST00000381241.3_Silent_p.A371A			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	343					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)			Melatonin(DB01065)	CCATTTTAGCCAGGAAATAAC	0.443																																					p.A371A		Atlas-SNP	.											.	ASMT	31	.	0			c.C1113G						.						144.0	136.0	139.0					X																	1761898		2203	4296	6499	SO:0001819	synonymous_variant	438	exon9			TTTAGCCAGGAAA	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.1029C>G	chrX.hg19:g.1761898C>G		253.0	0.0		285.0	37.0	NM_001171038	B2RC33|Q16598|Q5JQ72|Q5JQ73	Silent	SNP	ENST00000381229.4	hg19																																																																																				.	.		0.443	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043	
MED14	9282	hgsc.bcm.edu	37	X	40526045	40526045	+	Silent	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chrX:40526045T>C	ENST00000324817.1	-	24	3310	c.3192A>G	c.(3190-3192)tcA>tcG	p.S1064S		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1064	Pro-rich.				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						TTGGAACAAATGACGCTGGTG	0.473																																					p.S1064S		Atlas-SNP	.											.	MED14	108	.	0			c.A3192G						.						41.0	35.0	37.0					X																	40526045		2203	4300	6503	SO:0001819	synonymous_variant	9282	exon24			AACAAATGACGCT	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.3192A>G	chrX.hg19:g.40526045T>C		217.0	0.0		176.0	49.0	NM_004229	Q4KMR7|Q9UNB3	Silent	SNP	ENST00000324817.1	hg19	CCDS14254.1																																																																																			.	.		0.473	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229	
HDAC6	10013	hgsc.bcm.edu	37	X	48673109	48673109	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chrX:48673109G>T	ENST00000334136.5	+	12	1139	c.961G>T	c.(961-963)Gct>Tct	p.A321S	HDAC6_ENST00000376619.2_Missense_Mutation_p.A321S|HDAC6_ENST00000413163.2_Missense_Mutation_p.A266S|HDAC6_ENST00000444343.2_Missense_Mutation_p.A335S			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	321	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGACTACATTGCTGCTTTCCT	0.627																																					p.A321S	Pancreas(112;205 1675 2305 8976 15959)	Atlas-SNP	.											.	HDAC6	111	.	0			c.G961T						.						80.0	68.0	72.0					X																	48673109		2203	4300	6503	SO:0001583	missense	10013	exon12			TACATTGCTGCTT	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.961G>T	chrX.hg19:g.48673109G>T	ENSP00000334061:p.Ala321Ser	42.0	0.0		34.0	25.0	NM_006044	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	hg19	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871724	0.33069	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.05	2.96	0.34315	Histone deacetylase domain (2);	0.516766	0.18747	N	0.132290	T	0.57007	0.2024	L	0.41961	1.31	0.31374	N	0.679836	P;P;P	0.42556	0.515;0.783;0.515	B;P;B	0.46917	0.383;0.531;0.383	T	0.60094	-0.7330	10	0.35671	T	0.21	-13.4759	1.7054	0.02881	0.1259:0.2031:0.4563:0.2146	.	311;266;321	B4DZN1;E7EUZ1;Q9UBN7	.;.;HDAC6_HUMAN	S	335;321;321;321;266	ENSP00000398566:A335S;ENSP00000334061:A321S;ENSP00000365804:A321S;ENSP00000398801:A266S	ENSP00000334061:A321S	A	+	1	0	HDAC6	48558053	0.274000	0.24191	1.000000	0.80357	0.055000	0.15305	0.375000	0.20518	2.096000	0.63516	0.529000	0.55759	GCT	.	.		0.627	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	
PHKA1	5255	hgsc.bcm.edu	37	X	71838613	71838613	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chrX:71838613C>G	ENST00000373542.4	-	21	2475	c.2316G>C	c.(2314-2316)gaG>gaC	p.E772D	PHKA1_ENST00000373545.3_Missense_Mutation_p.E713D|PHKA1_ENST00000339490.3_Missense_Mutation_p.E772D|PHKA1_ENST00000541944.1_Missense_Mutation_p.E713D|PHKA1_ENST00000373539.3_Missense_Mutation_p.E772D	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	772					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGCTTGAGGTCTCCTTCAACT	0.393																																					p.E772D		Atlas-SNP	.											.	PHKA1	129	.	0			c.G2316C						.						163.0	135.0	144.0					X																	71838613		2203	4300	6503	SO:0001583	missense	5255	exon21			TGAGGTCTCCTTC		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2316G>C	chrX.hg19:g.71838613C>G	ENSP00000362643:p.Glu772Asp	142.0	0.0		125.0	44.0	NM_002637	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	hg19	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	5.267	0.234718	0.09969	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91124	-2.77;-2.79;-2.79;-2.77;-2.76	5.53	3.65	0.41850	Glycoside hydrolase 15-related (1);	0.181059	0.51477	D	0.000084	T	0.73297	0.3569	N	0.04203	-0.255	0.26174	N	0.979824	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.11329	0.002;0.002;0.006	T	0.58451	-0.7634	10	0.12103	T	0.63	-15.384	3.8581	0.08984	0.1926:0.6083:0.0:0.199	.	713;772;772	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	D	713;772;713;772;772	ENSP00000362646:E713D;ENSP00000362643:E772D;ENSP00000441251:E713D;ENSP00000342469:E772D;ENSP00000362640:E772D	ENSP00000342469:E772D	E	-	3	2	PHKA1	71755338	0.995000	0.38212	1.000000	0.80357	0.977000	0.68977	0.354000	0.20146	1.095000	0.41419	0.513000	0.50165	GAG	.	.		0.393	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		
PHKA1	5255	hgsc.bcm.edu	37	X	71838663	71838663	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chrX:71838663C>G	ENST00000373542.4	-	21	2425	c.2266G>C	c.(2266-2268)Gac>Cac	p.D756H	PHKA1_ENST00000373545.3_Missense_Mutation_p.D697H|PHKA1_ENST00000339490.3_Missense_Mutation_p.D756H|PHKA1_ENST00000541944.1_Missense_Mutation_p.D697H|PHKA1_ENST00000373539.3_Missense_Mutation_p.D756H	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	756					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCAGACTGGTCTCTAGGAAGA	0.388																																					p.D756H		Atlas-SNP	.											.	PHKA1	129	.	0			c.G2266C						.						128.0	110.0	116.0					X																	71838663		2203	4300	6503	SO:0001583	missense	5255	exon21			ACTGGTCTCTAGG		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2266G>C	chrX.hg19:g.71838663C>G	ENSP00000362643:p.Asp756His	121.0	0.0		106.0	37.0	NM_002637	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	hg19	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241568	0.39598	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.92048	-2.94;-2.96;-2.96;-2.91;-2.91	5.46	1.79	0.24919	Glycoside hydrolase 15-related (1);	0.487969	0.23134	N	0.051549	D	0.95351	0.8491	M	0.87038	2.855	0.38361	D	0.944616	D;P;P	0.76494	0.999;0.691;0.736	D;B;P	0.71870	0.975;0.405;0.828	D	0.93877	0.7167	10	0.72032	D	0.01	-1.8962	8.3981	0.32570	0.0:0.6589:0.0:0.3411	.	697;756;756	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	H	697;756;697;756;756	ENSP00000362646:D697H;ENSP00000362643:D756H;ENSP00000441251:D697H;ENSP00000342469:D756H;ENSP00000362640:D756H	ENSP00000342469:D756H	D	-	1	0	PHKA1	71755388	0.949000	0.32298	0.709000	0.30452	0.714000	0.41099	2.185000	0.42584	-0.066000	0.12998	-0.281000	0.10026	GAC	.	.		0.388	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		
ARMCX2	9823	hgsc.bcm.edu	37	X	100911407	100911407	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chrX:100911407T>C	ENST00000328766.5	-	5	1621	c.1168A>G	c.(1168-1170)Aag>Gag	p.K390E	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.K390E|ARMCX2_ENST00000356824.4_Missense_Mutation_p.K390E	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	390						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GCAAGGACCTTCCTGAGATCG	0.498																																					p.K390E		Atlas-SNP	.											.	ARMCX2	75	.	0			c.A1168G						.						104.0	93.0	97.0					X																	100911407		2203	4300	6503	SO:0001583	missense	9823	exon5			GGACCTTCCTGAG	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1168A>G	chrX.hg19:g.100911407T>C	ENSP00000331662:p.Lys390Glu	61.0	0.0		60.0	10.0	NM_014782	O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	hg19	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.791396	0.50102	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.38077	1.16;1.16;1.16	3.77	3.77	0.43336	Armadillo-like helical (1);Armadillo-type fold (1);	0.194986	0.52532	D	0.000080	T	0.52256	0.1723	M	0.68317	2.08	0.33997	D	0.649897	D	0.76494	0.999	D	0.81914	0.995	T	0.63413	-0.6643	10	0.44086	T	0.13	-11.4456	8.0153	0.30376	0.0:0.0:0.0:1.0	.	390	Q7L311	ARMX2_HUMAN	E	390	ENSP00000331662:K390E;ENSP00000328631:K390E;ENSP00000349281:K390E	ENSP00000331662:K390E	K	-	1	0	ARMCX2	100798063	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.791000	0.55469	1.709000	0.51313	0.345000	0.21793	AAG	.	.		0.498	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782	
LHFPL1	340596	hgsc.bcm.edu	37	X	111914512	111914512	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chrX:111914512G>C	ENST00000371968.3	-	2	346	c.107C>G	c.(106-108)tCc>tGc	p.S36C	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.S36C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	36						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CCCCATCTGGGATCCAAAGAG	0.557																																					p.S36C		Atlas-SNP	.											.	LHFPL1	28	.	0			c.C107G						.						152.0	141.0	144.0					X																	111914512		2203	4300	6503	SO:0001583	missense	340596	exon2			ATCTGGGATCCAA	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.107C>G	chrX.hg19:g.111914512G>C	ENSP00000361036:p.Ser36Cys	104.0	0.0		130.0	32.0	NM_178175	A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	hg19	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425519	0.43020	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.73897	-0.79;-0.79	5.44	4.56	0.56223	.	0.179620	0.49916	D	0.000137	T	0.76962	0.4061	M	0.72118	2.19	0.42774	D	0.993845	P;P	0.50710	0.924;0.938	P;P	0.51453	0.54;0.67	T	0.78593	-0.2144	10	0.56958	D	0.05	-27.0486	7.5263	0.27658	0.1898:0.0:0.8102:0.0	.	36;36	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	C	36	ENSP00000361036:S36C;ENSP00000444573:S36C	ENSP00000361036:S36C	S	-	2	0	LHFPL1	111801168	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.176000	0.50863	2.524000	0.85096	0.600000	0.82982	TCC	.	.		0.557	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175	
SPRY3	10251	hgsc.bcm.edu	37	X	155004067	155004067	+	Silent	SNP	T	T	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chrX:155004067T>C	ENST00000302805.2	+	2	965	c.534T>C	c.(532-534)gcT>gcC	p.A178A		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	178	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTTGCTCTGCTGAGAGCCTCC	0.582																																					p.A178A		Atlas-SNP	.											.	SPRY3	52	.	0			c.T534C						.						190.0	179.0	183.0					X																	155004067		2203	4296	6499	SO:0001819	synonymous_variant	10251	exon2			CTCTGCTGAGAGC	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.534T>C	chrX.hg19:g.155004067T>C		128.0	0.0		119.0	47.0	NM_005840	A8K0H8	Silent	SNP	ENST00000302805.2	hg19	CCDS14769.4																																																																																			.	.		0.582	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840	
XPO6	23214	hgsc.bcm.edu	37	16	28187343	28187359	+	Frame_Shift_Del	DEL	AGTTTGGGCAGACAGCT	AGTTTGGGCAGACAGCT	-			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	AGTTTGGGCAGACAGCT	AGTTTGGGCAGACAGCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr16:28187343_28187359delAGTTTGGGCAGACAGCT	ENST00000304658.5	-	4	765_781	c.265_281delAGCTGTCTGCCCAAACT	c.(265-282)agctgtctgcccaaactcfs	p.SCLPKL89fs	XPO6_ENST00000565698.1_Frame_Shift_Del_p.SCLPKL75fs	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	89	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AGCCAAAAGGAGTTTGGGCAGACAGCTACGGATTTCC	0.401																																					p.89_94del		Atlas-Indel,Pindel	.											.	XPO6	177	.	0			c.266_282del						.																																			SO:0001589	frameshift_variant	23214	exon4			.	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.265_281delAGCTGTCTGCCCAAACT	chr16.hg19:g.28187343_28187359delAGTTTGGGCAGACAGCT	ENSP00000302790:p.Ser89fs	158.0	0.0		143.0	12.0	NM_015171	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Frame_Shift_Del	DEL	ENST00000304658.5	hg19	CCDS42135.1																																																																																			.	.		0.401	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195	
RBM10	8241	hgsc.bcm.edu	37	X	47039334	47039345	+	In_Frame_Del	DEL	CCTGGCACCCTA	CCTGGCACCCTA	-			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	CCTGGCACCCTA	CCTGGCACCCTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chrX:47039334_47039345delCCTGGCACCCTA	ENST00000377604.3	+	10	1699_1710	c.957_968delCCTGGCACCCTA	c.(955-969)gccctggcaccctac>gcc	p.LAPY320del	RBM10_ENST00000329236.7_In_Frame_Del_p.LAPY243del|RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000345781.6_In_Frame_Del_p.LAPY243del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	320	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCCTGGGGGCCCTGGCACCCTACGCGGTGCTG	0.594																																					p.384_388del	Melanoma(171;120 2705 19495 39241)	Atlas-Indel,Pindel	.											.	RBM10	117	.	0			c.1151_1162del						.																																			SO:0001651	inframe_deletion	8241	exon10			.	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.957_968delCCTGGCACCCTA	chrX.hg19:g.47039334_47039345delCCTGGCACCCTA	ENSP00000366829:p.Leu320_Tyr323del	102.0	0.0		107.0	18.0	NM_001204468	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	hg19	CCDS14274.1																																																																																			.	.		0.594	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676	
CNOT6L	246175	hgsc.bcm.edu	37	4	78697452	78697453	+	Frame_Shift_Ins	INS	-	-	T	rs200743940		TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr4:78697452_78697453insT	ENST00000504123.1	-	2	229_230	c.99_100insA	c.(97-102)aaatctfs	p.S34fs	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Frame_Shift_Ins_p.S34fs			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	34	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GCCCAGTGAGATTTTTTCCCAT	0.371																																					p.S34fs		Atlas-Indel,Pindel	.											.	CNOT6L	57	.	0			c.100_101insA						.																																			SO:0001589	frameshift_variant	246175	exon2			.	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.100dupA	chr4.hg19:g.78697458_78697458dupT	ENSP00000424896:p.Ser34fs	102.0	0.0		100.0	28.0	NM_144571	Q9UF92	Frame_Shift_Ins	INS	ENST00000504123.1	hg19																																																																																				.	.		0.371	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1		
NGEF	25791	hgsc.bcm.edu	37	2	233757625	233757626	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr2:233757625_233757626insCG	ENST00000264051.3	-	7	1402_1403	c.1124_1125insCG	c.(1123-1125)cggfs	p.R375fs	NGEF_ENST00000539537.1_Frame_Shift_Ins_p.R98fs|NGEF_ENST00000373552.4_Frame_Shift_Ins_p.R283fs	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	375	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCTTATAGGTCCGCTCCTGGTA	0.584																																					p.R375fs		Atlas-Indel,Pindel	.											.	NGEF	198	.	0			c.1125_1126insCG						.																																			SO:0001589	frameshift_variant	25791	exon7			.	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1123_1124dupCG	chr2.hg19:g.233757626_233757627dupCG	ENSP00000264051:p.Arg375fs	101.0	0.0		114.0	17.0	NM_019850	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Frame_Shift_Ins	INS	ENST00000264051.3	hg19	CCDS2500.1																																																																																			.	.		0.584	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799	
CYC1	1537	hgsc.bcm.edu	37	8	145150875	145150876	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr8:145150875_145150876insC	ENST00000318911.4	+	2	342_343	c.269_270insC	c.(268-273)caccccfs	p.HP90fs		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	90					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGAGCTGCACCCCCCCAGCT	0.668											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H90fs		Atlas-Indel,Pindel	.											.,1	CYC1	34	.	0			c.269_270insC						.																																			SO:0001589	frameshift_variant	1537	exon2			.	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.276dupC	chr8.hg19:g.145150882_145150882dupC	ENSP00000317159:p.His90fs	45.0	0.0	1692	57.0	20.0	NM_001916	Q5U062|Q6FHS7	Frame_Shift_Ins	INS	ENST00000318911.4	hg19	CCDS6415.1																																																																																			.	.		0.668	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916	
C6orf47	57827	hgsc.bcm.edu	37	6	31627289	31627336	+	In_Frame_Del	DEL	CCAATGGGGCTCCTGGCCCAGGGACGCTCAGTCCCCCTTCAGGGGACA	CCAATGGGGCTCCTGGCCCAGGGACGCTCAGTCCCCCTTCAGGGGACA	-	rs529057431|rs538881383		TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	CCAATGGGGCTCCTGGCCCAGGGACGCTCAGTCCCCCTTCAGGGGACA	CCAATGGGGCTCCTGGCCCAGGGACGCTCAGTCCCCCTTCAGGGGACA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr6:31627289_31627336delCCAATGGGGCTCCTGGCCCAGGGACGCTCAGTCCCCCTTCAGGGGACA	ENST00000375911.1	-	1	1213_1260	c.389_436delTGTCCCCTGAAGGGGGACTGAGCGTCCCTGGGCCAGGAGCCCCATTGG	c.(388-438)gtgtcccctgaagggggactgagcgtccctgggccaggagccccattggag>gag	p.VSPEGGLSVPGPGAPL130del	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	130						cytoplasm (GO:0005737)		p.L145L(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CCAGGTTTCTCCAATGGGGCTCCTGGCCCAGGGACGCTCAGTCCCCCTTCAGGGGACACCCCTGGTCT	0.621																																					p.130_146del		Atlas-Indel,Pindel	.											.	C6orf47	15	.	1	Substitution - coding silent(1)	kidney(1)	c.390_437del						.																																			SO:0001651	inframe_deletion	57827	exon1			.	AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.389_436delTGTCCCCTGAAGGGGGACTGAGCGTCCCTGGGCCAGGAGCCCCATTGG	chr6.hg19:g.31627289_31627336delCCAATGGGGCTCCTGGCCCAGGGACGCTCAGTCCCCCTTCAGGGGACA	ENSP00000365076:p.Val130_Leu145del	74.0	0.0		92.0	19.0	NM_021184	B0UXA1|B0UZ50|Q5SSS6|Q95IG0	In_Frame_Del	DEL	ENST00000375911.1	hg19	CCDS34399.1																																																																																			.	.		0.621	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184	
CDKAL1	54901	hgsc.bcm.edu	37	6	20846331	20846331	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr6:20846331delA	ENST00000378610.1	+	7	674	c.664delA	c.(664-666)aaafs	p.K222fs	CDKAL1_ENST00000274695.4_Frame_Shift_Del_p.K222fs|CDKAL1_ENST00000378624.4_Frame_Shift_Del_p.K152fs			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	222					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TACCTACTGCAAAACTAAACA	0.333																																					p.C221X		Atlas-Indel,Pindel	.											.	CDKAL1	55	.	0			c.663delC						.						76.0	77.0	77.0					6																	20846331		2203	4300	6503	SO:0001589	frameshift_variant	54901	exon9			.	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.664delA	chr6.hg19:g.20846331delA	ENSP00000367873:p.Lys222fs	155.0	0.0		223.0	62.0	NM_017774	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Frame_Shift_Del	DEL	ENST00000378610.1	hg19	CCDS4546.1																																																																																			.	.		0.333	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774	
PKD2L2	27039	hgsc.bcm.edu	37	5	137230131	137230133	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	CTA	CTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr5:137230131_137230133delCTA	ENST00000508883.1	+	4	383_385	c.357_359delCTA	c.(355-360)atctac>atc	p.Y121del	PKD2L2_ENST00000350250.4_In_Frame_Del_p.Y87del|PKD2L2_ENST00000508638.1_In_Frame_Del_p.Y121del|PKD2L2_ENST00000502810.1_In_Frame_Del_p.Y121del|PKD2L2_ENST00000290431.5_In_Frame_Del_p.Y121del			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	121					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAGTCGCATCTACTATGAAAAT	0.399																																					p.119_120del		Atlas-Indel,Pindel	.											.	PKD2L2	68	.	0			c.356_358del						.																																			SO:0001651	inframe_deletion	27039	exon4			.	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.357_359delCTA	chr5.hg19:g.137230134_137230136delCTA	ENSP00000424725:p.Tyr121del	71.0	0.0		127.0	75.0	NM_001258448	A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	In_Frame_Del	DEL	ENST00000508883.1	hg19																																																																																				.	.		0.399	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386	
RBL2	5934	hgsc.bcm.edu	37	16	53514601	53514602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr16:53514601_53514602insG	ENST00000262133.6	+	20	3141_3142	c.3004_3005insG	c.(3004-3006)aggfs	p.R1002fs	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1002	Domain B.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGAAGAGGAGAGGGGAGACCTC	0.475																																					p.R1002fs		Atlas-Indel,Pindel	.											.	RBL2	115	.	0			c.3004_3005insG						.																																			SO:0001589	frameshift_variant	5934	exon20			.	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3008dupG	chr16.hg19:g.53514605_53514605dupG	ENSP00000262133:p.Arg1002fs	169.0	0.0		199.0	29.0	NM_005611	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Frame_Shift_Ins	INS	ENST00000262133.6	hg19	CCDS10748.1																																																																																			.	.		0.475	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611	
TRIT1	54802	hgsc.bcm.edu	37	1	40310251	40310251	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:40310251delT	ENST00000316891.5	-	9	1082	c.1068delA	c.(1066-1068)gaafs	p.E357fs	TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000441669.2_Frame_Shift_Del_p.E275fs|TRIT1_ENST00000541099.1_5'UTR|TRIT1_ENST00000537440.1_Frame_Shift_Del_p.E53fs|TRIT1_ENST00000372818.1_Frame_Shift_Del_p.E331fs|TRIT1_ENST00000537223.1_Frame_Shift_Del_p.E53fs|TRIT1_ENST00000545233.1_Frame_Shift_Del_p.E111fs	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	357					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAACAGACTCTTCCCACTTCG	0.428																																					p.E357fs		Atlas-Indel,Pindel	.											.	TRIT1	40	.	0			c.1069delG						.						76.0	72.0	73.0					1																	40310251		2203	4300	6503	SO:0001589	frameshift_variant	54802	exon9			.	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1068delA	chr1.hg19:g.40310251delT	ENSP00000321810:p.Glu357fs	429.0	0.0		447.0	151.0	NM_017646	A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Frame_Shift_Del	DEL	ENST00000316891.5	hg19	CCDS30681.1																																																																																			.	.		0.428	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646	
CCDC50	152137	hgsc.bcm.edu	37	3	191093078	191093078	+	Intron	DEL	A	A	-			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr3:191093078delA	ENST00000392455.3	+	6	1046				CCDC50_ENST00000392456.3_Frame_Shift_Del_p.K226fs	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GCATGAAAGGAAACGGTCCAC	0.493																																					p.R225fs		Atlas-INDEL	.											.	CCDC50	39	.	0			c.675delG						.						80.0	73.0	75.0					3																	191093078		2203	4300	6503	SO:0001627	intron_variant	152137	exon6			.	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.449-4870A>-	chr3.hg19:g.191093078delA		193.0	0.0		182.0	22.0	NM_178335	Q86VH7	Frame_Shift_Del	DEL	ENST00000392455.3	hg19	CCDS33913.1																																																																																			.	.		0.493	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908	
CDKN2A	1029	hgsc.bcm.edu	37	9	21974713	21974713	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr9:21974713delG	ENST00000304494.5	-	1	384	c.114delC	c.(112-114)cccfs	p.P38fs	CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.P38fs|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.P38fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.P38fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	38					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.G35fs*13(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGTGCGTTGGGCAGCGCCC	0.706		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																											p.N39fs		Atlas-INDEL	.											.	CDKN2A	4810	.	1341	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	c.115delA						.						34.0	42.0	39.0					9																	21974713		2199	4289	6488	SO:0001589	frameshift_variant	1029	exon1			.	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.114delC	chr9.hg19:g.21974713delG	ENSP00000307101:p.Pro38fs	90.0	0.0		82.0	11.0	NM_058197	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	hg19	CCDS6510.1																																																																																			.	.		0.706	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	
ADCY2	108	hgsc.bcm.edu	37	5	7396475	7396476	+	In_Frame_Ins	INS	-	-	GGG			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr5:7396475_7396476insGGG	ENST00000338316.4	+	1	155_156	c.66_67insGGG	c.(67-69)gga>GGGgga	p.23_23G>GG		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	23					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGGCGGGCGGCGGAGACGGGCT	0.733																																					p.G22delinsGG		Atlas-Indel,Pindel	.											.	ADCY2	337	.	0			c.66_67insGGG						.																																			SO:0001652	inframe_insertion	108	exon1			.	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	Exception_encountered	chr5.hg19:g.7396475_7396476insGGG	ENSP00000342952:p.Gly23dup	80.0	0.0		106.0	19.0	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	In_Frame_Ins	INS	ENST00000338316.4	hg19	CCDS3872.2																																																																																			.	.		0.733	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
PPP1CA	5499	hgsc.bcm.edu	37	11	67166088	67166097	+	Frame_Shift_Del	DEL	CCCTTGTTCT	CCCTTGTTCT	-			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	CCCTTGTTCT	CCCTTGTTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr11:67166088_67166097delCCCTTGTTCT	ENST00000376745.4	-	7	1050_1059	c.902_911delAGAACAAGGG	c.(901-912)aagaacaaggggfs	p.KNKG301fs	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Frame_Shift_Del_p.KNKG312fs|PPP1CA_ENST00000358239.4_Frame_Shift_Del_p.KNKG257fs	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	301					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CCCGTACTTCCCCTTGTTCTTGTCGGCGGG	0.605																																					p.312_315del		Atlas-Indel,Pindel	.											.	PPP1CA	83	.	0			c.936_945del						.																																			SO:0001589	frameshift_variant	5499	exon7			.		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.902_911delAGAACAAGGG	chr11.hg19:g.67166088_67166097delCCCTTGTTCT	ENSP00000365936:p.Lys301fs	96.0	0.0		94.0	10.0	NM_001008709	A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Frame_Shift_Del	DEL	ENST00000376745.4	hg19	CCDS8160.1																																																																																			.	.		0.605	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708	
SNX29	92017	hgsc.bcm.edu	37	16	12497309	12497318	+	Frame_Shift_Del	DEL	AACCGGGCGC	AACCGGGCGC	-			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	AACCGGGCGC	AACCGGGCGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr16:12497309_12497318delAACCGGGCGC	ENST00000566228.1	+	18	2029_2038	c.1960_1969delAACCGGGCGC	c.(1960-1971)aaccgggcgctgfs	p.NRAL654fs	SNX29_ENST00000323433.4_Frame_Shift_Del_p.NRAL269fs|SNX29_ENST00000306030.3_Frame_Shift_Del_p.NRAL269fs	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	654						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GGTTAGATCAAACCGGGCGCTGATCAACGT	0.424																																					p.653_656del		Atlas-Indel,Pindel	.											.	SNX29	60	.	0			c.1959_1968del						.																																			SO:0001589	frameshift_variant	92017	exon18			.	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1960_1969delAACCGGGCGC	chr16.hg19:g.12497309_12497318delAACCGGGCGC	ENSP00000456480:p.Asn654fs	140.0	0.0		93.0	29.0	NM_032167	B5MDW2|Q8N2X2|Q9HA26	Frame_Shift_Del	DEL	ENST00000566228.1	hg19	CCDS10553.2																																																																																			.	.		0.424	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1		
ZNF3	7551	hgsc.bcm.edu	37	7	99669473	99669494	+	Frame_Shift_Del	DEL	TTCGATTAAAGCTCTTGCTACA	TTCGATTAAAGCTCTTGCTACA	-	rs199648870		TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	TTCGATTAAAGCTCTTGCTACA	TTCGATTAAAGCTCTTGCTACA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr7:99669473_99669494delTTCGATTAAAGCTCTTGCTACA	ENST00000424697.1	-	6	919_940	c.613_634delTGTAGCAAGAGCTTTAATCGAA	c.(613-636)tgtagcaagagctttaatcgaactfs	p.CSKSFNRT205fs	ZNF3_ENST00000303915.6_Frame_Shift_Del_p.CSKSFNRT205fs|ZNF3_ENST00000299667.4_Frame_Shift_Del_p.CSKSFNRT205fs|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	205					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.S206R(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGGTCTGAAGTTCGATTAAAGCTCTTGCTACATTCATCACAC	0.441																																					p.205_212del		Atlas-Indel,Pindel	.											ZNF3,extremity,malignant_melanoma,0,1	ZNF3	54	.	1	Substitution - Missense(1)	lung(1)	c.614_635del						.																																			SO:0001589	frameshift_variant	7551	exon6			.	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.613_634delTGTAGCAAGAGCTTTAATCGAA	chr7.hg19:g.99669473_99669494delTTCGATTAAAGCTCTTGCTACA	ENSP00000415358:p.Cys205fs	92.0	0.0		157.0	17.0	NM_032924	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Frame_Shift_Del	DEL	ENST00000424697.1	hg19	CCDS43619.1																																																																																			.	.		0.441	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715	
CCDC14	64770	hgsc.bcm.edu	37	3	123634282	123634283	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr3:123634282_123634283insA	ENST00000488653.2	-	13	2295_2296	c.2205_2206insT	c.(2203-2208)aatagtfs	p.S736fs	CCDC14_ENST00000433542.2_Frame_Shift_Ins_p.S695fs|CCDC14_ENST00000485727.1_Frame_Shift_Ins_p.S536fs|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Frame_Shift_Ins_p.S536fs|CCDC14_ENST00000310351.4_Frame_Shift_Ins_p.S576fs			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	736					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CTAGTGTTACTATTTTGAGGGC	0.406																																					p.S695_N696delinsX		Atlas-Indel,Pindel	.											.	CCDC14	97	.	0			c.2083_2084insT						.																																			SO:0001589	frameshift_variant	64770	exon12			.	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2206dupT	chr3.hg19:g.123634283_123634283dupA	ENSP00000420180:p.Ser736fs	113.0	0.0		93.0	23.0	NM_022757	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Frame_Shift_Ins	INS	ENST00000488653.2	hg19																																																																																				.	.		0.406	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757	
RB1	5925	hgsc.bcm.edu	37	13	48936988	48936988	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr13:48936988delA	ENST00000267163.4	+	8	894	c.756delA	c.(754-756)acafs	p.T252fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	252					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CACCTCGAACACCCAGGCGAG	0.338		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																											p.T252fs		Atlas-Indel,Pindel	.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.	RB1	1068	.	21	Whole gene deletion(15)|Unknown(6)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.755delC						.						107.0	109.0	108.0					13																	48936988		2203	4300	6503	SO:0001589	frameshift_variant	5925	exon8	Familial Cancer Database		.	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.756delA	chr13.hg19:g.48936988delA	ENSP00000267163:p.Thr252fs	384.0	0.0		216.0	34.0	NM_000321	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	hg19	CCDS31973.1																																																																																			.	.		0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
ARID1B	57492	hgsc.bcm.edu	37	6	157405805	157405805	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr6:157405805delG	ENST00000350026.5	+	5	2009	c.2008delG	c.(2008-2010)ggcfs	p.G670fs	ARID1B_ENST00000275248.4_Frame_Shift_Del_p.G612fs|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.G670fs|ARID1B_ENST00000346085.5_Frame_Shift_Del_p.G683fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	670					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGATCTGTCTGGCTCCATTGA	0.488																																					p.S682fs		Atlas-INDEL	.											.	ARID1B	320	.	0			c.2046delT						.						108.0	104.0	106.0					6																	157405805		2203	4300	6503	SO:0001589	frameshift_variant	57492	exon6			.	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2008delG	chr6.hg19:g.157405805delG	ENSP00000055163:p.Gly670fs	80.0	0.0		69.0	10.0	NM_020732	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Del	DEL	ENST00000350026.5	hg19	CCDS5251.2																																																																																			.	.		0.488	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
CRIPT	9419	hgsc.bcm.edu	37	2	46846808	46846809	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr2:46846808_46846809insA	ENST00000238892.3	+	3	257_258	c.125_126insA	c.(124-129)tcaaaafs	p.SK42fs	PIGF_ENST00000306465.4_5'Flank|PIGF_ENST00000495933.1_5'Flank|CRIPT_ENST00000486447.1_3'UTR|PIGF_ENST00000281382.6_5'Flank	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	42					cytoplasmic microtubule organization (GO:0031122)|establishment of protein localization (GO:0045184)|protein localization to microtubule (GO:0035372)|regulation of postsynaptic density protein 95 clustering (GO:1902897)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	microtubule binding (GO:0008017)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)			kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCTTTGACTTCAAAAAAAGCAA	0.322																																					p.S42fs		Pindel	.											.	CRIPT	9	.	0			c.125_126insA						.			0,4266		0,0,2133						5.0	1.0			57	1,8253		0,1,4126	no	frameshift	CRIPT	NM_014171.4		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	9419	exon3			.	AA165108	CCDS1829.1	2p21	2008-02-05			ENSG00000119878	ENSG00000119878			14312	protein-coding gene	gene with protein product		604594				16091592, 11744724, 10570482, 9581762	Standard	NM_014171		Approved	HSPC139	uc002rve.3	Q9P021	OTTHUMG00000128815	ENST00000238892.3:c.132dupA	chr2.hg19:g.46846815_46846815dupA	ENSP00000238892:p.Ser42fs	630.0	0.0		652.0	61.0	NM_014171		Frame_Shift_Ins	INS	ENST00000238892.3	hg19	CCDS1829.1																																																																																			.	.		0.322	CRIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250748.1	NM_014171	
STIL	6491	hgsc.bcm.edu	37	1	47746094	47746131	+	Frame_Shift_Del	DEL	TTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGG	TTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGG	-	rs140448154|rs375723619|rs185913484	byFrequency	TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	TTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGG	TTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr1:47746094_47746131delTTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGG	ENST00000360380.3	-	13	2362_2399	c.1999_2036delCCTCAGGGAGATATGGGCAGTTGTTCTCCCCACAGCAA	c.(1999-2037)cctcagggagatatgggcagttgttctccccacagcaatfs	p.PQGDMGSCSPHSN667fs	STIL_ENST00000337817.5_Frame_Shift_Del_p.PQGDMGSCSPHSN667fs|STIL_ENST00000371877.3_Frame_Shift_Del_p.PQGDMGSCSPHSN667fs|STIL_ENST00000396221.2_Frame_Shift_Del_p.PQGDMGSCSPHSN667fs|STIL_ENST00000243182.6_Frame_Shift_Del_p.PQGDMGSCSPHSN667fs	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	667	PIN1-binding. {ECO:0000250}.				cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGGTTCAATATTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGGTCTCAAGGCT	0.479																																					p.667_679del		Pindel	.											.	STIL	91	.	0			c.2000_2037del						.																																			SO:0001589	frameshift_variant	6491	exon12			.	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1999_2036delCCTCAGGGAGATATGGGCAGTTGTTCTCCCCACAGCAA	chr1.hg19:g.47746094_47746131delTTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGG	ENSP00000353544:p.Pro667fs	133.0	0.0		113.0	11.0	NM_003035	Q5T0C5|Q68CN9	Frame_Shift_Del	DEL	ENST00000360380.3	hg19	CCDS548.1																																																																																			.	.		0.479	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035	
NTRK2	4915	hgsc.bcm.edu	37	9	87359975	87359975	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr9:87359975delG	ENST00000323115.4	+	10	1636	c.1283delG	c.(1282-1284)cggfs	p.R428fs	NTRK2_ENST00000376213.1_Frame_Shift_Del_p.R428fs|NTRK2_ENST00000376214.1_Frame_Shift_Del_p.R428fs|NTRK2_ENST00000395866.2_Frame_Shift_Del_p.R272fs|NTRK2_ENST00000395882.1_Frame_Shift_Del_p.R428fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.R428fs|NTRK2_ENST00000304053.6_Frame_Shift_Del_p.R428fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.R428fs|NTRK2_ENST00000277120.3_Frame_Shift_Del_p.R428fs			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	428					activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	AAAACCGGTCGGGAACATCTC	0.453										TSP Lung(25;0.17)																											p.R428fs		Pindel	.											.	NTRK2	331	.	0			c.1282delC						.						130.0	121.0	124.0					9																	87359975		2203	4300	6503	SO:0001589	frameshift_variant	4915	exon11			.	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1283delG	chr9.hg19:g.87359975delG	ENSP00000314586:p.Arg428fs	157.0	0.0		188.0	17.0	NM_001018066	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Frame_Shift_Del	DEL	ENST00000323115.4	hg19	CCDS35050.1																																																																																			.	.		0.453	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1		
CCDC50	152137	hgsc.bcm.edu	37	3	191093079	191093080	+	Intron	DEL	AA	AA	-	rs2028573	byFrequency	TCGA-DD-AADM-01A-11D-A40R-10	TCGA-DD-AADM-10A-01D-A40U-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a3f5bd9c-15d2-40c2-8a80-2e79612b0da2	240c9f1e-b53f-41d5-a4cb-6249427390ad	g.chr3:191093079_191093080delAA	ENST00000392455.3	+	6	1046				CCDC50_ENST00000392456.3_Frame_Shift_Del_p.K226fs	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CATGAAAGGAAACGGTCCACTC	0.5																																					p.226_226del		Pindel	.											.	CCDC50	39	.	0			c.676_677del						.																																			SO:0001627	intron_variant	152137	exon6			.	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.449-4868AA>-	chr3.hg19:g.191093079_191093080delAA		190.0	0.0		180.0	17.0	NM_178335	Q86VH7	Frame_Shift_Del	DEL	ENST00000392455.3	hg19	CCDS33913.1																																																																																			.	.		0.500	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908	
