#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
PRDM2	7799	hgsc.bcm.edu	37	1	14105806	14105806	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr1:14105806C>T	ENST00000235372.7	+	8	2372	c.1516C>T	c.(1516-1518)Cac>Tac	p.H506Y	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.H305Y|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.H506Y|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.H305Y	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCGTAGAGTTCACGAACGTCA	0.478																																					p.H506Y		Atlas-SNP	.											.	PRDM2	147	.	0			c.C1516T						.						43.0	43.0	43.0					1																	14105806		2203	4300	6503	SO:0001583	missense	7799	exon8			AGAGTTCACGAAC	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1516C>T	chr1.hg19:g.14105806C>T	ENSP00000235372:p.His506Tyr	82.0	0.0		39.0	13.0	NM_015866	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	hg19	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158860	0.57368	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.89086	0.6615	L	0.34521	1.04	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90131	0.4206	10	0.87932	D	0	.	18.2252	0.89915	0.0:1.0:0.0:0.0	.	506;364;506;506	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	Y	506;506;506;305;305	ENSP00000235372:H506Y;ENSP00000312352:H506Y;ENSP00000411103:H305Y;ENSP00000341621:H305Y	ENSP00000235372:H506Y	H	+	1	0	PRDM2	13978393	1.000000	0.71417	0.113000	0.21522	0.980000	0.70556	7.487000	0.81328	2.633000	0.89246	0.655000	0.94253	CAC	.	.		0.478	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231	
COL24A1	255631	hgsc.bcm.edu	37	1	86554879	86554879	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr1:86554879G>A	ENST00000370571.2	-	7	2051	c.1685C>T	c.(1684-1686)cCc>cTc	p.P562L	COL24A1_ENST00000436319.1_Missense_Mutation_p.P562L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	562	Collagen-like 2.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CATACCAGGGGGGCCCATTAA	0.328																																					p.P562L		Atlas-SNP	.											.	COL24A1	202	.	0			c.C1685T						.						78.0	77.0	77.0					1																	86554879		1805	4063	5868	SO:0001583	missense	255631	exon7			CCAGGGGGGCCCA	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1685C>T	chr1.hg19:g.86554879G>A	ENSP00000359603:p.Pro562Leu	188.0	0.0		160.0	40.0	NM_152890	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	hg19	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	6.261	0.416198	0.11870	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;T	0.96685	-4.09;2.33	5.41	4.5	0.54988	.	0.390052	0.18954	N	0.126616	D	0.88291	0.6397	L	0.42529	1.33	0.58432	D	0.99999	P;B	0.41848	0.763;0.001	B;B	0.39465	0.3;0.005	D	0.86991	0.2110	10	0.08837	T	0.75	.	10.1227	0.42630	0.09:0.0:0.91:0.0	.	562;562	F8WDM8;Q17RW2	.;COOA1_HUMAN	L	562	ENSP00000359603:P562L;ENSP00000392531:P562L	ENSP00000359603:P562L	P	-	2	0	COL24A1	86327467	0.999000	0.42202	0.945000	0.38365	0.351000	0.29236	3.506000	0.53364	1.529000	0.49120	-0.291000	0.09656	CCC	.	.		0.328	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	
PGBD2	267002	hgsc.bcm.edu	37	1	249211312	249211312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr1:249211312C>T	ENST00000329291.5	+	3	676	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000539153.1_Nonsense_Mutation_p.Q174*	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	177										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTTACGGCTCAGGAATTGAA	0.368																																					p.Q177X		Atlas-SNP	.											.	PGBD2	103	.	0			c.C529T						.						146.0	150.0	149.0					1																	249211312		2203	4300	6503	SO:0001587	stop_gained	267002	exon3			ACGGCTCAGGAAT	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.529C>T	chr1.hg19:g.249211312C>T	ENSP00000331643:p.Gln177*	47.0	0.0		46.0	12.0	NM_170725	B3KVR8|Q6MZF8	Nonsense_Mutation	SNP	ENST00000329291.5	hg19	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322177	0.81580	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	.	.	.	4.04	4.04	0.47022	.	0.000000	0.33792	N	0.004560	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-13.8225	11.9052	0.52708	0.0:1.0:0.0:0.0	.	.	.	.	X	177;174	.	ENSP00000331643:Q177X	Q	+	1	0	PGBD2	247177935	0.739000	0.28196	0.939000	0.37840	0.528000	0.34623	0.864000	0.27926	2.243000	0.73865	0.655000	0.94253	CAG	.	.		0.368	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1		
LHCGR	3973	hgsc.bcm.edu	37	2	48950602	48950602	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr2:48950602C>A	ENST00000294954.7	-	6	550	c.529G>T	c.(529-531)Gta>Tta	p.V177L	LHCGR_ENST00000401907.1_Missense_Mutation_p.V177L|LHCGR_ENST00000403273.1_Missense_Mutation_p.V177L|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.V177L|LHCGR_ENST00000344775.3_Missense_Mutation_p.V177L	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	177					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CACAGTGTTACAGATTCATTA	0.383																																					p.V177L		Atlas-SNP	.											.	LHCGR	154	.	0			c.G529T						.						114.0	104.0	108.0					2																	48950602		2203	4300	6503	SO:0001583	missense	3973	exon6			GTGTTACAGATTC		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.529G>T	chr2.hg19:g.48950602C>A	ENSP00000294954:p.Val177Leu	82.0	0.0		55.0	11.0	NM_000233	Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	hg19	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	8.709	0.911526	0.17833	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907;ENST00000428232	D;D;T;D;D;T	0.91843	-2.92;-2.92;-1.19;-2.92;-2.92;-1.19	5.62	-5.23	0.02798	.	0.688144	0.15640	N	0.251926	T	0.76877	0.4049	N	0.13003	0.285	0.18873	N	0.999983	B	0.06786	0.001	B	0.08055	0.003	T	0.65092	-0.6252	9	.	.	.	.	3.6028	0.08031	0.1807:0.4397:0.1135:0.2661	.	177	P22888	LSHR_HUMAN	L	177;177;177;177;177;143	ENSP00000344301:V177L;ENSP00000294954:V177L;ENSP00000386033:V177L;ENSP00000385847:V177L;ENSP00000385406:V177L;ENSP00000403748:V143L	.	V	-	1	0	LHCGR	48804106	0.000000	0.05858	0.978000	0.43139	0.948000	0.59901	-1.301000	0.02749	-0.364000	0.08088	-1.124000	0.02001	GTA	.	.		0.383	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3	
FARSB	10056	hgsc.bcm.edu	37	2	223494886	223494886	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr2:223494886A>G	ENST00000281828.6	-	9	1057	c.794T>C	c.(793-795)aTa>aCa	p.I265T	FARSB_ENST00000536361.1_Missense_Mutation_p.I166T	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	265					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATCAAGAACTATTTTTGCCTG	0.303																																					p.I265T		Atlas-SNP	.											.	FARSB	49	.	0			c.T794C						.						92.0	89.0	90.0					2																	223494886		2202	4300	6502	SO:0001583	missense	10056	exon9			AGAACTATTTTTG	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.794T>C	chr2.hg19:g.223494886A>G	ENSP00000281828:p.Ile265Thr	143.0	0.0		111.0	36.0	NM_005687	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	hg19	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.001283	0.74818	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.28069	1.63;1.63	5.57	5.57	0.84162	B3/B4 tRNA-binding domain (2);Phenylalanyl-tRNA synthetase, B3/B4 (1);	0.041677	0.85682	D	0.000000	T	0.43545	0.1252	M	0.75447	2.3	0.80722	D	1	P;B	0.42973	0.796;0.43	P;P	0.46026	0.501;0.501	T	0.40232	-0.9574	10	0.45353	T	0.12	-15.0248	15.7429	0.77914	1.0:0.0:0.0:0.0	.	265;265	A8K666;Q9NSD9	.;SYFB_HUMAN	T	265;166	ENSP00000281828:I265T;ENSP00000442950:I166T	ENSP00000281828:I265T	I	-	2	0	FARSB	223203130	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.961000	0.76042	2.118000	0.64928	0.528000	0.53228	ATA	.	.		0.303	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687	
TRPM8	79054	hgsc.bcm.edu	37	2	234839334	234839334	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr2:234839334G>A	ENST00000324695.4	+	3	179	c.139G>A	c.(139-141)Gca>Aca	p.A47T	TRPM8_ENST00000409625.1_5'UTR|TRPM8_ENST00000355722.4_5'UTR|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	47					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TTTTATTCAAGCAAATTTTAA	0.328																																					p.A47T		Atlas-SNP	.											.	TRPM8	146	.	0			c.G139A						.						105.0	112.0	110.0					2																	234839334		2203	4299	6502	SO:0001583	missense	79054	exon3			ATTCAAGCAAATT	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.139G>A	chr2.hg19:g.234839334G>A	ENSP00000323926:p.Ala47Thr	92.0	0.0		57.0	13.0	NM_024080	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	hg19	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960578	0.53400	.	.	ENSG00000144481	ENST00000324695	T	0.61392	0.11	5.51	4.63	0.57726	.	0.150706	0.45361	N	0.000377	T	0.41096	0.1144	N	0.20685	0.6	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18777	-1.0326	10	0.21014	T	0.42	-0.4364	13.1702	0.59593	0.0773:0.0:0.9227:0.0	.	47	Q7Z2W7	TRPM8_HUMAN	T	47	ENSP00000323926:A47T	ENSP00000323926:A47T	A	+	1	0	TRPM8	234504073	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.752000	0.62176	1.320000	0.45209	0.650000	0.86243	GCA	.	.		0.328	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
BOC	91653	hgsc.bcm.edu	37	3	113005642	113005642	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr3:113005642C>A	ENST00000495514.1	+	20	3982	c.3278C>A	c.(3277-3279)cCt>cAt	p.P1093H	BOC_ENST00000355385.3_Missense_Mutation_p.P1093H|BOC_ENST00000273395.4_Missense_Mutation_p.P1094H			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1093					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGACAGGAACCTGGAATGCAG	0.542																																					p.P1093H		Atlas-SNP	.											.	BOC	139	.	0			c.C3278A						.						112.0	120.0	117.0					3																	113005642		2203	4300	6503	SO:0001583	missense	91653	exon20			AGGAACCTGGAAT	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3278C>A	chr3.hg19:g.113005642C>A	ENSP00000418663:p.Pro1093His	60.0	0.0		33.0	12.0	NM_033254	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	hg19	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524587	0.27299	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.59638	0.25;0.25;0.25	6.17	-0.237	0.13061	.	0.542823	0.18213	N	0.148136	T	0.34048	0.0884	N	0.24115	0.695	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.10450	0.005;0.002	T	0.10730	-1.0617	10	0.39692	T	0.17	.	2.384	0.04361	0.1335:0.4771:0.1308:0.2585	.	1094;1093	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	H	1093;1094;1093	ENSP00000418663:P1093H;ENSP00000273395:P1094H;ENSP00000347546:P1093H	ENSP00000273395:P1094H	P	+	2	0	BOC	114488332	0.000000	0.05858	0.002000	0.10522	0.400000	0.30750	-0.119000	0.10676	-0.106000	0.12110	0.655000	0.94253	CCT	.	.		0.542	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254	
ATR	545	hgsc.bcm.edu	37	3	142275251	142275251	+	Silent	SNP	A	A	C			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr3:142275251A>C	ENST00000350721.4	-	9	2173	c.2052T>G	c.(2050-2052)tcT>tcG	p.S684S	ATR_ENST00000383101.3_Silent_p.S620S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	684					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTCTGTTACAAGAATTCTGCT	0.388								Other conserved DNA damage response genes																													p.S684S		Atlas-SNP	.											.	ATR	285	.	0			c.T2052G						.						70.0	77.0	74.0					3																	142275251		2203	4300	6503	SO:0001819	synonymous_variant	545	exon9			GTTACAAGAATTC	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2052T>G	chr3.hg19:g.142275251A>C		87.0	0.0		77.0	18.0	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	hg19	CCDS3124.1																																																																																			.	.		0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
PCDHB5	26167	hgsc.bcm.edu	37	5	140516880	140516880	+	Missense_Mutation	SNP	G	G	C			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr5:140516880G>C	ENST00000231134.5	+	1	2081	c.1864G>C	c.(1864-1866)Gag>Cag	p.E622Q		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	622	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACAATGGCGAGGTGCGCAC	0.706																																					p.E622Q		Atlas-SNP	.											.	PCDHB5	184	.	0			c.G1864C						.						44.0	46.0	45.0					5																	140516880		2155	4208	6363	SO:0001583	missense	26167	exon1			AATGGCGAGGTGC	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1864G>C	chr5.hg19:g.140516880G>C	ENSP00000231134:p.Glu622Gln	9.0	0.0		11.0	4.0	NM_015669	Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	hg19	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650117	0.67472	.	.	ENSG00000113209	ENST00000231134	T	0.53423	0.62	4.65	4.65	0.58169	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70954	0.3283	M	0.84156	2.68	0.36717	D	0.880998	D	0.65815	0.995	D	0.68039	0.955	T	0.80763	-0.1237	9	0.87932	D	0	.	17.92	0.88963	0.0:0.0:1.0:0.0	.	622	Q9Y5E4	PCDB5_HUMAN	Q	622	ENSP00000231134:E622Q	ENSP00000231134:E622Q	E	+	1	0	PCDHB5	140497064	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.522000	0.53480	2.301000	0.77427	0.430000	0.28490	GAG	.	.		0.706	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
MFAP3	4238	hgsc.bcm.edu	37	5	153429404	153429404	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr5:153429404A>G	ENST00000436816.1	+	2	341	c.122A>G	c.(121-123)aAt>aGt	p.N41S	MFAP3_ENST00000322602.5_Missense_Mutation_p.N41S|MFAP3_ENST00000439768.2_Intron	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	41					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AGTTCTTACAATGCATCCTTT	0.423																																					p.N41S		Atlas-SNP	.											.	MFAP3	20	.	0			c.A122G						.						107.0	95.0	99.0					5																	153429404		2203	4300	6503	SO:0001583	missense	4238	exon2			CTTACAATGCATC		CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.122A>G	chr5.hg19:g.153429404A>G	ENSP00000409933:p.Asn41Ser	120.0	0.0		84.0	21.0	NM_005927	B2RDK0|B4DKA1|Q9NXA7	Missense_Mutation	SNP	ENST00000436816.1	hg19	CCDS4324.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694667	0.68386	.	.	ENSG00000037749	ENST00000522782;ENST00000436816;ENST00000322602;ENST00000522177	T;T	0.19250	2.16;2.16	5.8	5.8	0.92144	.	0.350970	0.33092	N	0.005295	T	0.18593	0.0446	L	0.29908	0.895	0.42581	D	0.993218	B	0.26876	0.162	B	0.21917	0.037	T	0.02498	-1.1150	10	0.62326	D	0.03	-28.0662	16.1512	0.81624	1.0:0.0:0.0:0.0	.	41	P55082	MFAP3_HUMAN	S	41	ENSP00000409933:N41S;ENSP00000322956:N41S	ENSP00000322956:N41S	N	+	2	0	MFAP3	153409597	0.998000	0.40836	0.811000	0.32455	0.919000	0.55068	2.503000	0.45407	2.222000	0.72286	0.533000	0.62120	AAT	.	.		0.423	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	NM_005927	
ESR1	2099	hgsc.bcm.edu	37	6	152415519	152415519	+	Splice_Site	SNP	G	G	A			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr6:152415519G>A	ENST00000206249.3	+	7	1731		c.e7-1		ESR1_ENST00000456483.2_Splice_Site|ESR1_ENST00000406599.1_Splice_Site|ESR1_ENST00000440973.1_Splice_Site|ESR1_ENST00000443427.1_Splice_Site|ESR1_ENST00000338799.5_Splice_Site|ESR1_ENST00000427531.2_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1						androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TGCGCATTCAGGAGTGTACAC	0.502																																					.		Atlas-SNP	.											.	ESR1	94	.	0			c.1370-1G>A						.						121.0	122.0	122.0					6																	152415519		2203	4300	6503	SO:0001630	splice_region_variant	2099	exon9			CATTCAGGAGTGT	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1370-1G>A	chr6.hg19:g.152415519G>A		49.0	0.0		38.0	10.0	NM_001122742	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Splice_Site	SNP	ENST00000206249.3	hg19	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743328	0.89663	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000431590	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2505	0.93923	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ESR1	152457212	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.888000	0.92464	2.555000	0.86185	0.555000	0.69702	.	.	.		0.502	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1		Intron
SAMD9	54809	hgsc.bcm.edu	37	7	92733863	92733863	+	Missense_Mutation	SNP	T	T	A			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr7:92733863T>A	ENST00000379958.2	-	3	1817	c.1548A>T	c.(1546-1548)gaA>gaT	p.E516D		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	516						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGAAGCTCTTTCTCTTTGCC	0.393																																					p.E516D		Atlas-SNP	.											.	SAMD9	239	.	0			c.A1548T						.						92.0	95.0	94.0					7																	92733863		2203	4300	6503	SO:0001583	missense	54809	exon2			AGCTCTTTCTCTT	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1548A>T	chr7.hg19:g.92733863T>A	ENSP00000369292:p.Glu516Asp	71.0	0.0		51.0	18.0	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	hg19	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	7.051	0.564393	0.13498	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.13778	2.56;2.56	4.08	0.513	0.17000	.	0.178248	0.33959	U	0.004389	T	0.07052	0.0179	L	0.28192	0.835	0.23449	N	0.997659	B	0.25272	0.122	B	0.25614	0.062	T	0.32666	-0.9898	10	0.21014	T	0.42	.	3.8598	0.08991	0.1589:0.2907:0.0:0.5504	.	516	Q5K651	SAMD9_HUMAN	D	516	ENSP00000369292:E516D;ENSP00000414529:E516D	ENSP00000369292:E516D	E	-	3	2	SAMD9	92571799	0.610000	0.26983	1.000000	0.80357	0.996000	0.88848	-0.004000	0.12878	0.249000	0.21456	0.491000	0.48974	GAA	.	.		0.393	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
OR2F1	26211	hgsc.bcm.edu	37	7	143657370	143657370	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr7:143657370T>C	ENST00000392899.1	+	1	344	c.307T>C	c.(307-309)Ttc>Ctc	p.F103L	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	103					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCAGTTATTTTTCTCCCTGGC	0.527																																					p.F103L		Atlas-SNP	.											.	OR2F1	71	.	0			c.T307C						.						158.0	144.0	149.0					7																	143657370		2203	4300	6503	SO:0001583	missense	26211	exon1			TTATTTTTCTCCC	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.307T>C	chr7.hg19:g.143657370T>C	ENSP00000376633:p.Phe103Leu	95.0	0.0		62.0	17.0	NM_012369	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	hg19	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	T	8.542	0.873541	0.17322	.	.	ENSG00000213215	ENST00000392899	T	0.00495	6.99	5.41	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.111768	0.40908	N	0.000987	T	0.00271	0.0008	N	0.12853	0.265	0.32041	N	0.598204	B	0.12630	0.006	B	0.10450	0.005	T	0.19451	-1.0305	10	0.15952	T	0.53	-43.3321	5.7545	0.18164	0.2791:0.0:0.2897:0.4313	.	103	Q13607	OR2F1_HUMAN	L	103	ENSP00000376633:F103L	ENSP00000376633:F103L	F	+	1	0	OR2F1	143288303	0.000000	0.05858	0.987000	0.45799	0.857000	0.48899	0.123000	0.15708	0.115000	0.18071	0.533000	0.62120	TTC	.	.		0.527	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1		
ADAMTSL1	92949	hgsc.bcm.edu	37	9	18639393	18639393	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr9:18639393C>T	ENST00000380548.4	+	7	1157	c.818C>T	c.(817-819)gCa>gTa	p.A273V	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A273V|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A273V|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A273V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	273						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCACTCACAGCAGATTTCATT	0.428																																					p.A273V		Atlas-SNP	.											.	ADAMTSL1	306	.	0			c.C818T						.						60.0	62.0	61.0					9																	18639393		2203	4299	6502	SO:0001583	missense	92949	exon7			TCACAGCAGATTT	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.818C>T	chr9.hg19:g.18639393C>T	ENSP00000369921:p.Ala273Val	56.0	0.0		44.0	16.0	NM_052866	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	hg19	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169730	0.78452	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.64085	-0.08;0.65;0.65;0.65	5.77	5.77	0.91146	.	.	.	.	.	T	0.73450	0.3588	L	0.55481	1.735	0.80722	D	1	D;D	0.71674	0.998;0.971	P;P	0.59703	0.862;0.818	T	0.67968	-0.5533	9	0.32370	T	0.25	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	273;273	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	V	273	ENSP00000369921:A273V;ENSP00000327887:A273V;ENSP00000369940:A273V;ENSP00000276935:A273V	ENSP00000276935:A273V	A	+	2	0	ADAMTSL1	18629393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.879000	0.75572	2.890000	0.99128	0.650000	0.86243	GCA	.	.		0.428	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
IFNA14	3448	hgsc.bcm.edu	37	9	21239523	21239523	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr9:21239523C>A	ENST00000380222.2	-	1	455	c.412G>T	c.(412-414)Gac>Tac	p.D138Y		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	138					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGATGGAGTCCTCATTCATC	0.448																																					p.D138Y		Atlas-SNP	.											.	IFNA14	29	.	0			c.G412T						.						205.0	208.0	207.0					9																	21239523		2203	4297	6500	SO:0001583	missense	3448	exon1			TGGAGTCCTCATT		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"""Interferons"""	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.412G>T	chr9.hg19:g.21239523C>A	ENSP00000369571:p.Asp138Tyr	103.0	0.0		47.0	18.0	NM_002172	Q5VZ56|Q7M4S1	Missense_Mutation	SNP	ENST00000380222.2	hg19	CCDS6501.1	.	.	.	.	.	.	.	.	.	.	-	13.87	2.366666	0.41902	.	.	ENSG00000228083	ENST00000380222	T	0.06608	3.28	3.38	0.263	0.15602	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.540907	0.17422	N	0.174794	T	0.23054	0.0557	M	0.91406	3.205	0.09310	N	1	D	0.57571	0.98	D	0.71414	0.973	T	0.06320	-1.0833	10	0.87932	D	0	.	3.0236	0.06084	0.181:0.5317:0.1769:0.1103	.	138	P01570	IFN14_HUMAN	Y	138	ENSP00000369571:D138Y	ENSP00000369571:D138Y	D	-	1	0	IFNA14	21229523	0.000000	0.05858	0.017000	0.16124	0.375000	0.29983	0.259000	0.18405	0.216000	0.20781	0.398000	0.26397	GAC	.	.		0.448	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172	
KIF24	347240	hgsc.bcm.edu	37	9	34310818	34310818	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr9:34310818T>C	ENST00000402558.2	-	1	551	c.527A>G	c.(526-528)tAc>tGc	p.Y176C	KIF24_ENST00000379174.3_Missense_Mutation_p.Y176C|KIF24_ENST00000379166.2_Missense_Mutation_p.Y176C|KIF24_ENST00000345050.2_Missense_Mutation_p.Y176C			Q5T7B8	KIF24_HUMAN	kinesin family member 24	176					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TGCAGAAAGGTAATTTGGTGA	0.388																																					p.Y176C		Atlas-SNP	.											.	KIF24	64	.	0			c.A527G						.						203.0	194.0	197.0					9																	34310818		1859	4101	5960	SO:0001583	missense	347240	exon2			GAAAGGTAATTTG	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.527A>G	chr9.hg19:g.34310818T>C	ENSP00000384433:p.Tyr176Cys	174.0	0.0		133.0	34.0	NM_194313	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	hg19	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	T	10.59	1.392350	0.25118	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.71461	-0.36;-0.57;-0.36;-0.57	5.48	3.03	0.35002	.	0.859366	0.09781	N	0.756736	T	0.58552	0.2130	N	0.19112	0.55	0.09310	N	1	D;D	0.58970	0.984;0.973	P;B	0.46452	0.517;0.319	T	0.48833	-0.9000	10	0.72032	D	0.01	.	5.5086	0.16868	0.2587:0.0714:0.0:0.6698	.	176;176	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	C	176	ENSP00000384433:Y176C;ENSP00000368472:Y176C;ENSP00000368464:Y176C;ENSP00000340179:Y176C	ENSP00000340179:Y176C	Y	-	2	0	KIF24	34300818	0.953000	0.32496	0.988000	0.46212	0.110000	0.19582	1.345000	0.33953	0.333000	0.23563	0.528000	0.53228	TAC	.	.		0.388	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5		
PTGR1	22949	hgsc.bcm.edu	37	9	114348335	114348335	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr9:114348335G>A	ENST00000407693.2	-	5	582	c.320C>T	c.(319-321)aCa>aTa	p.T107I	PTGR1_ENST00000538962.1_Missense_Mutation_p.T107I|PTGR1_ENST00000309195.5_Missense_Mutation_p.T107I|PTGR1_ENST00000238248.3_5'UTR	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	107					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TGGCCACTCTGTCAGCAGCTT	0.463																																					p.T107I	Ovarian(200;132 2151 7551 19220 46064)	Atlas-SNP	.											.	PTGR1	23	.	0			c.C320T						.						138.0	109.0	119.0					9																	114348335		2203	4300	6503	SO:0001583	missense	22949	exon5			CACTCTGTCAGCA	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.320C>T	chr9.hg19:g.114348335G>A	ENSP00000385763:p.Thr107Ile	110.0	0.0		70.0	18.0	NM_001146108	A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	hg19	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	G	9.614	1.132170	0.21041	.	.	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000333580;ENST00000422125	T;T;T;T	0.51817	0.69;0.69;0.69;0.85	4.74	0.169	0.15017	GroES-like (1);	1.008970	0.07932	N	0.977675	T	0.39545	0.1082	L	0.46819	1.47	0.09310	N	0.999995	B;B;B	0.18741	0.03;0.001;0.029	B;B;B	0.17722	0.019;0.003;0.01	T	0.34428	-0.9829	10	0.37606	T	0.19	-8.3056	8.3144	0.32091	0.0759:0.0:0.5129:0.4113	.	107;107;107	F5GY50;B4DPK3;Q14914	.;.;PTGR1_HUMAN	I	107;107;107;88;88	ENSP00000440281:T107I;ENSP00000311572:T107I;ENSP00000385763:T107I;ENSP00000395965:T88I	ENSP00000311572:T107I	T	-	2	0	PTGR1	113388156	0.005000	0.15991	0.003000	0.11579	0.909000	0.53808	1.506000	0.35747	0.211000	0.20683	-0.310000	0.09108	ACA	.	.		0.463	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2		
ARHGAP12	94134	hgsc.bcm.edu	37	10	32150410	32150410	+	Silent	SNP	C	C	G			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr10:32150410C>G	ENST00000344936.2	-	4	1095	c.861G>C	c.(859-861)ggG>ggC	p.G287G	ARHGAP12_ENST00000375245.4_Silent_p.G287G|ARHGAP12_ENST00000396144.4_Silent_p.G287G|ARHGAP12_ENST00000311380.4_Silent_p.G287G|ARHGAP12_ENST00000375250.5_Silent_p.G287G	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	287	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TTTCCTGTGTCCCTCTGTTAT	0.473																																					p.G287G		Atlas-SNP	.											.	ARHGAP12	79	.	0			c.G861C						.						112.0	100.0	104.0					10																	32150410		2203	4300	6503	SO:0001819	synonymous_variant	94134	exon4			CTGTGTCCCTCTG	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.861G>C	chr10.hg19:g.32150410C>G		122.0	0.0		121.0	29.0	NM_001270696	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Silent	SNP	ENST00000344936.2	hg19	CCDS7170.1																																																																																			.	.		0.473	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1		
MICU1	10367	hgsc.bcm.edu	37	10	74326487	74326487	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr10:74326487C>A	ENST00000361114.5	-	2	161	c.65G>T	c.(64-66)gGa>gTa	p.G22V	MICU1_ENST00000401998.3_Missense_Mutation_p.G22V|MICU1_ENST00000604025.1_5'UTR|MICU1_ENST00000398761.4_Missense_Mutation_p.G22V	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	22					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										CTGTGATCCTCCATGGTACCA	0.483																																					p.G22V		Atlas-SNP	.											.	.	.	.	0			c.G65T						.						71.0	71.0	71.0					10																	74326487		1950	4164	6114	SO:0001583	missense	10367	exon2			GATCCTCCATGGT	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.65G>T	chr10.hg19:g.74326487C>A	ENSP00000354415:p.Gly22Val	77.0	0.0		45.0	17.0	NM_001195518	A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	hg19	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779263	0.90195	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998	D;D;D	0.81908	-1.54;-1.55;-1.54	5.91	5.91	0.95273	.	0.115517	0.64402	D	0.000011	T	0.80166	0.4573	L	0.48642	1.525	0.80722	D	1	P	0.36222	0.544	B	0.33339	0.162	T	0.81252	-0.1017	10	0.87932	D	0	.	19.0678	0.93119	0.0:1.0:0.0:0.0	.	22	Q9BPX6	MICU1_HUMAN	V	22	ENSP00000354415:G22V;ENSP00000381745:G22V;ENSP00000384068:G22V	ENSP00000354415:G22V	G	-	2	0	MICU1	73996493	0.994000	0.37717	1.000000	0.80357	0.989000	0.77384	3.430000	0.52807	2.813000	0.96785	0.655000	0.94253	GGA	.	.		0.483	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077	
CYP2C8	1558	hgsc.bcm.edu	37	10	96796969	96796969	+	Silent	SNP	A	A	G			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr10:96796969A>G	ENST00000371270.3	-	9	1483	c.1389T>C	c.(1387-1389)gaT>gaC	p.D463D	CYP2C8_ENST00000535898.1_Silent_p.D361D	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	463					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GGTTCTTTAAATCATCAACAG	0.413																																					p.D463D		Atlas-SNP	.											.	CYP2C8	73	.	0			c.T1389C						.						132.0	136.0	134.0					10																	96796969		2203	4300	6503	SO:0001819	synonymous_variant	1558	exon9			CTTTAAATCATCA	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1389T>C	chr10.hg19:g.96796969A>G		92.0	0.0		64.0	16.0	NM_000770	A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Silent	SNP	ENST00000371270.3	hg19	CCDS7438.1																																																																																			.	.		0.413	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770	
ABLIM1	3983	hgsc.bcm.edu	37	10	116417809	116417809	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr10:116417809C>A	ENST00000277895.5	-	1	248	c.151G>T	c.(151-153)Gct>Tct	p.A51S	ABLIM1_ENST00000369252.4_Intron|ABLIM1_ENST00000533213.2_Intron|snoU13_ENST00000458910.1_RNA	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	51					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CGCCTATGAGCGGTGAAGGAG	0.517																																					p.A51S		Atlas-SNP	.											ABLIM1_ENST00000336585,colon,carcinoma,0,1	ABLIM1	131	.	0			c.G151T						.						95.0	87.0	90.0					10																	116417809		2203	4300	6503	SO:0001583	missense	3983	exon1			TATGAGCGGTGAA	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.151G>T	chr10.hg19:g.116417809C>A	ENSP00000277895:p.Ala51Ser	64.0	0.0		55.0	17.0	NM_002313	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	hg19	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849365	0.32699	.	.	ENSG00000099204	ENST00000336585;ENST00000369262;ENST00000277895	T	0.27720	1.65	5.77	-1.77	0.07982	.	1.937130	0.03007	N	0.148935	T	0.18509	0.0444	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.25433	-1.0132	10	0.41790	T	0.15	.	6.4267	0.21773	0.0:0.1746:0.4573:0.3681	.	51	O14639	ABLM1_HUMAN	S	51	ENSP00000277895:A51S	ENSP00000277895:A51S	A	-	1	0	ABLIM1	116407799	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.873000	0.04214	-0.019000	0.14055	-0.219000	0.12488	GCT	.	.		0.517	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		
RARG	5916	hgsc.bcm.edu	37	12	53609161	53609161	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr12:53609161T>C	ENST00000425354.2	-	5	878	c.391A>G	c.(391-393)Aac>Gac	p.N131D	RARG_ENST00000394426.1_Missense_Mutation_p.N131D|RARG_ENST00000338561.5_Missense_Mutation_p.N120D|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.N109D|RARG_ENST00000327550.3_Missense_Mutation_p.N59D	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	131					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	ATGATACAGTTTTTGTCGCGG	0.527																																					p.N131D		Atlas-SNP	.											.	RARG	53	.	0			c.A391G						.						257.0	199.0	219.0					12																	53609161		2203	4300	6503	SO:0001583	missense	5916	exon5			TACAGTTTTTGTC	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.391A>G	chr12.hg19:g.53609161T>C	ENSP00000388510:p.Asn131Asp	39.0	0.0		25.0	6.0	NM_000966	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	hg19	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.367774	0.61513	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.97066	-4.0;-4.0;-4.0;-4.0;-4.23	4.43	4.43	0.53597	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.95875	0.8657	N	0.20881	0.62	0.80722	D	1	P;D;D;P	0.67145	0.928;0.992;0.996;0.755	P;P;D;P	0.67382	0.775;0.906;0.951;0.809	D	0.93560	0.6894	10	0.13853	T	0.58	.	13.1019	0.59224	0.0:0.0:0.0:1.0	.	168;109;131;120	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	D	131;131;59;120;109;168	ENSP00000388510:N131D;ENSP00000377947:N131D;ENSP00000332695:N59D;ENSP00000343698:N120D;ENSP00000444335:N109D	ENSP00000332695:N59D	N	-	1	0	RARG	51895428	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.798000	0.85924	1.992000	0.58205	0.472000	0.43445	AAC	.	.		0.527	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966	
SOHLH2	54937	hgsc.bcm.edu	37	13	36747869	36747869	+	Silent	SNP	G	G	A	rs572238180		TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr13:36747869G>A	ENST00000379881.3	-	9	1048	c.960C>T	c.(958-960)tcC>tcT	p.S320S	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S397S|SOHLH2_ENST00000554962.1_Silent_p.S397S	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	320					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CATCAGGAGTGGAGCACCCAT	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19309	0.0		0.0	False		,,,				2504	0.0				p.S397S		Atlas-SNP	.											.	.	.	.	0			c.C1191T						.						122.0	109.0	113.0					13																	36747869		2203	4300	6503	SO:0001819	synonymous_variant	100526761	exon14			AGGAGTGGAGCAC	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.960C>T	chr13.hg19:g.36747869G>A		50.0	0.0		38.0	9.0	NM_001198910	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	ENST00000379881.3	hg19	CCDS9355.1																																																																																			.	.		0.522	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826	
NDRG2	57447	hgsc.bcm.edu	37	14	21486186	21486186	+	Silent	SNP	C	C	T			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr14:21486186C>T	ENST00000556147.1	-	15	1849	c.909G>A	c.(907-909)ctG>ctA	p.L303L	NDRG2_ENST00000397851.2_Silent_p.L303L|NDRG2_ENST00000298687.5_Silent_p.L303L|NDRG2_ENST00000554143.1_Silent_p.L289L|NDRG2_ENST00000553503.1_Silent_p.L289L|NDRG2_ENST00000350792.3_Silent_p.L289L|NDRG2_ENST00000397856.3_Silent_p.L273L|NDRG2_ENST00000554104.1_Silent_p.L216L|NDRG2_ENST00000555158.1_Silent_p.L289L|NDRG2_ENST00000298684.5_Silent_p.L260L|NDRG2_ENST00000397853.3_Silent_p.L303L|NDRG2_ENST00000397855.3_Silent_p.L260L|NDRG2_ENST00000397847.2_Silent_p.L292L|NDRG2_ENST00000360463.3_Silent_p.L289L|NDRG2_ENST00000397844.2_Silent_p.L273L|NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000403829.3_Silent_p.L299L|NDRG2_ENST00000397858.1_Silent_p.L303L			Q9UN36	NDRG2_HUMAN	NDRG family member 2	303					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGGCCTCGGTCAGCTTGCCTG	0.592																																					p.L303L		Atlas-SNP	.											.	NDRG2	37	.	0			c.G909A						.						182.0	172.0	175.0					14																	21486186		2203	4300	6503	SO:0001819	synonymous_variant	57447	exon15			CTCGGTCAGCTTG	AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.909G>A	chr14.hg19:g.21486186C>T		29.0	0.0		27.0	15.0	NM_201537	B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Silent	SNP	ENST00000556147.1	hg19	CCDS9565.1																																																																																			.	.		0.592	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1		
ACAN	176	hgsc.bcm.edu	37	15	89385015	89385015	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr15:89385015A>G	ENST00000561243.1	+	4	674	c.674A>G	c.(673-675)gAt>gGt	p.D225G	ACAN_ENST00000439576.2_Missense_Mutation_p.D225G|ACAN_ENST00000558207.1_Missense_Mutation_p.D225G|ACAN_ENST00000559004.1_Missense_Mutation_p.D225G|ACAN_ENST00000352105.7_Missense_Mutation_p.D225G			P16112	PGCA_HUMAN	aggrecan	225	G1-B.|Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGACAAGGATGAGTTTCCT	0.577																																					p.D225G		Atlas-SNP	.											.	ACAN	220	.	0			c.A674G						.						171.0	182.0	178.0					15																	89385015		2092	4206	6298	SO:0001583	missense	176	exon5			ACAAGGATGAGTT	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.674A>G	chr15.hg19:g.89385015A>G	ENSP00000453342:p.Asp225Gly	44.0	0.0		34.0	17.0	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	hg19	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005082	0.74932	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02446	4.53;4.29	5.61	5.61	0.85477	.	.	.	.	.	T	0.09379	0.0231	L	0.39020	1.185	0.51482	D	0.999925	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.79784	0.993;0.993;0.953	T	0.20273	-1.0280	9	0.45353	T	0.12	-21.726	14.6404	0.68720	1.0:0.0:0.0:0.0	.	225;225;225	E7ENV9;E7EX88;Q6PID9	.;.;.	G	225	ENSP00000387356:D225G;ENSP00000341615:D225G	ENSP00000268134:D225G	D	+	2	0	ACAN	87186019	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	6.048000	0.71046	2.134000	0.65973	0.482000	0.46254	GAT	.	.		0.577	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
CHD2	1106	hgsc.bcm.edu	37	15	93510735	93510735	+	Missense_Mutation	SNP	G	G	C			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr15:93510735G>C	ENST00000394196.4	+	17	3249	c.2181G>C	c.(2179-2181)caG>caC	p.Q727H	CHD2_ENST00000557381.1_Missense_Mutation_p.Q727H	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	727					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTCAGAAACAGTATTACAAGT	0.393																																					p.Q727H		Atlas-SNP	.											.	CHD2	280	.	0			c.G2181C						.						75.0	68.0	70.0					15																	93510735		2197	4298	6495	SO:0001583	missense	1106	exon17			GAAACAGTATTAC	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2181G>C	chr15.hg19:g.93510735G>C	ENSP00000377747:p.Gln727His	63.0	0.0		59.0	13.0	NM_001271	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	hg19	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041729	0.75732	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.92647	-3.08;-3.08	5.83	5.83	0.93111	SNF2-related (1);	0.000000	0.32769	U	0.005678	D	0.95755	0.8619	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.74023	0.966;0.982	D	0.95610	0.8671	10	0.87932	D	0	-29.2142	20.115	0.97926	0.0:0.0:1.0:0.0	.	727;727	O14647;O14647-2	CHD2_HUMAN;.	H	727	ENSP00000377747:Q727H;ENSP00000451366:Q727H	ENSP00000377747:Q727H	Q	+	3	2	CHD2	91311739	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.144000	0.50616	2.761000	0.94854	0.650000	0.86243	CAG	.	.		0.393	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	
CREBBP	1387	hgsc.bcm.edu	37	16	3830772	3830772	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr16:3830772T>C	ENST00000262367.5	-	8	2593	c.1784A>G	c.(1783-1785)cAt>cGt	p.H595R	CREBBP_ENST00000382070.3_Missense_Mutation_p.H557R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	595	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGAGTGACATGTTCGTGCCA	0.473			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.H595R		Atlas-SNP	.		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	CREBBP	546	.	0			c.A1784G						.						117.0	96.0	104.0					16																	3830772		2197	4300	6497	SO:0001583	missense	1387	exon8			GTGACATGTTCGT	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.1784A>G	chr16.hg19:g.3830772T>C	ENSP00000262367:p.His595Arg	73.0	0.0		43.0	10.0	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	hg19	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641647	0.67244	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.82984	-1.67;-1.6	5.65	5.65	0.86999	Coactivator CBP, KIX (4);	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.966;0.999	D;D	0.83275	0.972;0.996	D	0.86055	0.1528	10	0.40728	T	0.16	-19.1248	15.8672	0.79074	0.0:0.0:0.0:1.0	.	625;595	Q4LE28;Q92793	.;CBP_HUMAN	R	595;625;557	ENSP00000262367:H595R;ENSP00000371502:H557R	ENSP00000262367:H595R	H	-	2	0	CREBBP	3770773	1.000000	0.71417	0.976000	0.42696	0.990000	0.78478	7.932000	0.87634	2.156000	0.67533	0.482000	0.46254	CAT	.	.		0.473	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
N4BP1	9683	hgsc.bcm.edu	37	16	48595832	48595832	+	Missense_Mutation	SNP	C	C	A	rs374516858		TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr16:48595832C>A	ENST00000262384.3	-	2	958	c.722G>T	c.(721-723)gGg>gTg	p.G241V	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	241					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				AACAGGAGTCCCAGCTTTATT	0.413																																					p.G241V		Atlas-SNP	.											N4BP1_ENST00000262384,NS,carcinoma,0,2	N4BP1	121	.	0			c.G722T						.						75.0	72.0	73.0					16																	48595832		1871	4083	5954	SO:0001583	missense	9683	exon2			GGAGTCCCAGCTT	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.722G>T	chr16.hg19:g.48595832C>A	ENSP00000262384:p.Gly241Val	129.0	0.0		81.0	24.0	NM_153029	A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	hg19	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017658	0.75161	.	.	ENSG00000102921	ENST00000262384	T	0.52526	0.66	5.61	5.61	0.85477	.	0.388030	0.26871	N	0.022074	T	0.56499	0.1989	L	0.29908	0.895	0.58432	D	0.999999	D	0.69078	0.997	P	0.59643	0.861	T	0.59637	-0.7417	10	0.87932	D	0	-6.7919	19.6397	0.95753	0.0:1.0:0.0:0.0	.	241	O75113	N4BP1_HUMAN	V	241	ENSP00000262384:G241V	ENSP00000262384:G241V	G	-	2	0	N4BP1	47153333	0.756000	0.28383	0.997000	0.53966	0.959000	0.62525	4.141000	0.58038	2.632000	0.89209	0.655000	0.94253	GGG	.	.		0.413	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664	
BRCA1	672	hgsc.bcm.edu	37	17	41245778	41245778	+	Silent	SNP	A	A	G	rs80359886		TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr17:41245778A>G	ENST00000357654.3	-	10	1888	c.1770T>C	c.(1768-1770)agT>agC	p.S590S	BRCA1_ENST00000346315.3_Silent_p.S590S|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000309486.4_Silent_p.S294S|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Silent_p.S590S|BRCA1_ENST00000354071.3_Silent_p.S590S|BRCA1_ENST00000493795.1_Silent_p.S543S	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	590					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TATTGCTTATACTGCTGCTTA	0.368			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.S590S		Atlas-SNP	.	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	BRCA1	304	.	0			c.T1770C						.						89.0	88.0	88.0					17																	41245778		2202	4298	6500	SO:0001819	synonymous_variant	672	exon10	Familial Cancer Database		GCTTATACTGCTG	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1770T>C	chr17.hg19:g.41245778A>G		173.0	0.0		136.0	13.0	NM_007300	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	hg19	CCDS11453.1																																																																																			.	.		0.368	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
ZNF616	90317	hgsc.bcm.edu	37	19	52618825	52618825	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr19:52618825C>A	ENST00000600228.1	-	4	1853	c.1592G>T	c.(1591-1593)aGt>aTt	p.S531I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGAACGGTCACTGAAGACCTT	0.443																																					p.S531I		Atlas-SNP	.											.	ZNF616	109	.	0			c.G1592T						.						99.0	96.0	97.0					19																	52618825		2203	4300	6503	SO:0001583	missense	90317	exon4			CGGTCACTGAAGA	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1592G>T	chr19.hg19:g.52618825C>A	ENSP00000471000:p.Ser531Ile	61.0	0.0		58.0	10.0	NM_178523	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	hg19	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	6.113	0.389086	0.11581	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15132	0.0365	N	0.17594	0.5	0.09310	N	1	P	0.41784	0.762	B	0.41619	0.361	T	0.10019	-1.0648	8	0.33141	T	0.24	.	1.8145	0.03097	0.1737:0.2287:0.4384:0.1591	.	531	Q08AN1	ZN616_HUMAN	I	531	.	ENSP00000328722:S531I	S	-	2	0	ZNF616	57310637	0.000000	0.05858	0.000000	0.03702	0.803000	0.45373	-8.110000	0.00025	-0.756000	0.04703	0.305000	0.20034	AGT	.	.		0.443	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892	
GNAS	2778	hgsc.bcm.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr20:57484420C>T	ENST00000371085.3	+	8	1025	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000371100.4_Missense_Mutation_p.R844C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											p.R844C	Colon(117;935 1597 6045 8307 46442)	Atlas-SNP	.		Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	GNAS_ENST00000371100,NS,adenocarcinoma,0,338	GNAS	867	.	242	Substitution - Missense(242)	pituitary(141)|pancreas(35)|large_intestine(14)|ovary(12)|thyroid(10)|adrenal_gland(7)|biliary_tract(6)|parathyroid(5)|liver(3)|kidney(3)|testis(2)|upper_aerodigestive_tract(2)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)	c.C2530T						.						80.0	78.0	79.0					20																	57484420		2203	4300	6503	SO:0001583	missense	2778	exon8			CGCTGCCGTGTCC	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.601C>T	chr20.hg19:g.57484420C>T	ENSP00000360126:p.Arg201Cys	74.0	0.0		46.0	18.0	NM_080425	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	hg19	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT	.	C|1.000		0.428	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516	
DGCR6L	85359	hgsc.bcm.edu	37	22	20307214	20307214	+	Silent	SNP	G	G	A			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chr22:20307214G>A	ENST00000248879.3	-	2	310	c.219C>T	c.(217-219)ctC>ctT	p.L73L	XXbac-B444P24.13_ENST00000608275.1_RNA|DGCR6L_ENST00000405465.3_Missense_Mutation_p.S69L|XXbac-B444P24.14_ENST00000609632.1_lincRNA	NM_033257.3	NP_150282.2	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	73						nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					TCTTTTCGGTGAGGTGCTGGA	0.672																																					p.L73L		Atlas-SNP	.											.	DGCR6L	9	.	0			c.C219T						.						35.0	32.0	33.0					22																	20307214		2201	4298	6499	SO:0001819	synonymous_variant	85359	exon2			TTCGGTGAGGTGC	AF228708	CCDS13778.1	22q11.21	2013-02-19			ENSG00000128185	ENSG00000128185			18551	protein-coding gene	gene with protein product		609459				11157784	Standard	NM_033257		Approved	FLJ10666	uc002zrx.3	Q9BY27	OTTHUMG00000150583	ENST00000248879.3:c.219C>T	chr22.hg19:g.20307214G>A		73.0	0.0		54.0	9.0	NM_033257	A8K1N7|B3KMC0|D3DX29|Q9BW33	Silent	SNP	ENST00000248879.3	hg19	CCDS13778.1	.	.	.	.	.	.	.	.	.	.	G	8.733	0.917160	0.17982	.	.	ENSG00000128185	ENST00000405465	T	0.35421	1.31	2.49	0.0108	0.14084	.	.	.	.	.	T	0.24851	0.0603	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	T	0.27536	-1.0071	5	.	.	.	-12.8707	5.5677	0.17180	0.0:0.4196:0.3673:0.2131	.	.	.	.	L	69	ENSP00000386052:S69L	.	S	-	2	0	DGCR6L	18687214	1.000000	0.71417	0.988000	0.46212	0.087000	0.18053	1.239000	0.32719	-0.051000	0.13334	0.306000	0.20318	TCA	.	.		0.672	DGCR6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318970.3	NM_033257	
TMEM187	8269	hgsc.bcm.edu	37	X	153247691	153247691	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A7M7-01A-12D-A34Z-10	TCGA-G3-A7M7-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2e2d5d14-93c7-44fb-bee9-d6bf7c286368	3a264183-655d-4ab5-ade1-24ffbfd0cdb0	g.chrX:153247691G>A	ENST00000369982.4	+	2	925	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	60						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACTCACTCGTGAACATGGC	0.652																																					p.V60M		Atlas-SNP	.											.	TMEM187	21	.	0			c.G178A						.						48.0	48.0	48.0					X																	153247691		2203	4300	6503	SO:0001583	missense	8269	exon2			TCACTCGTGAACA	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.178G>A	chrX.hg19:g.153247691G>A	ENSP00000358999:p.Val60Met	38.0	0.0		36.0	23.0	NM_003492	B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	hg19	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002389	0.35320	.	.	ENSG00000177854	ENST00000369982;ENST00000425274	T;T	0.35048	1.33;1.33	4.13	-7.34	0.01427	.	0.899723	0.08783	U	0.894396	T	0.47544	0.1451	M	0.63843	1.955	0.09310	N	1	D	0.67145	0.996	P	0.55667	0.781	T	0.61242	-0.7102	10	0.87932	D	0	.	16.9406	0.86217	0.1944:0.0:0.8056:0.0	.	60	Q14656	TM187_HUMAN	M	60	ENSP00000358999:V60M;ENSP00000390108:V60M	ENSP00000358999:V60M	V	+	1	0	TMEM187	152900885	0.015000	0.18098	0.000000	0.03702	0.006000	0.05464	0.079000	0.14782	-1.849000	0.01171	0.436000	0.28706	GTG	.	.		0.652	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492	
