#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
ARID1A	8289	hgsc.bcm.edu	37	1	27097796	27097796	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr1:27097796A>T	ENST00000324856.7	+	12	3756	c.3385A>T	c.(3385-3387)Aag>Tag	p.K1129*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.K746*|ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.K1129*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1129					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCCCAGCCCAAGATCCAGCC	0.542			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.K1129X		Atlas-SNP	.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	ARID1A	842	.	0			c.A3385T						.						50.0	47.0	48.0					1																	27097796		2203	4300	6503	SO:0001587	stop_gained	8289	exon12			CAGCCCAAGATCC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3385A>T	chr1.hg19:g.27097796A>T	ENSP00000320485:p.Lys1129*	121.0	0.0		78.0	27.0	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	hg19	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	43|43	9.927584|9.927584	0.99298|0.99298	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.095193|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71517	.|0.3349	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70880	.|-0.4752	.|4	0.02654|.	T|.	1|.	-13.2016|-13.2016	15.4712|15.4712	0.75441|0.75441	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1129;1129;746|26	.|.	ENSP00000320485:K1129X|.	K|Q	+|+	1|2	0|0	ARID1A|ARID1A	26970383|26970383	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.065000|9.065000	0.93941|0.93941	2.246000|2.246000	0.74042|0.74042	0.482000|0.482000	0.46254|0.46254	AAG|CAA	.	.		0.542	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
C1orf177	163747	hgsc.bcm.edu	37	1	55279596	55279596	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr1:55279596C>T	ENST00000371273.3	+	7	887	c.872C>T	c.(871-873)aCc>aTc	p.T291I	C1orf177_ENST00000358193.3_Missense_Mutation_p.T291I	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	291										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AACCCGAAAACCCCTACAGAG	0.512																																					p.T291I		Atlas-SNP	.											.	C1orf177	36	.	0			c.C872T						.						82.0	88.0	86.0					1																	55279596		2203	4300	6503	SO:0001583	missense	163747	exon7			CGAAAACCCCTAC	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.872C>T	chr1.hg19:g.55279596C>T	ENSP00000360320:p.Thr291Ile	222.0	0.0		186.0	79.0	NM_001110533	B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	hg19	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	C	0.319	-0.962807	0.02249	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.23552	1.9;1.9	4.98	0.634	0.17718	.	0.909170	0.09438	N	0.802222	T	0.15998	0.0385	L	0.38531	1.155	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.33548	-0.9864	10	0.21540	T	0.41	-1.4365	2.9818	0.05955	0.2034:0.4693:0.0:0.3273	.	291;291	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	I	291	ENSP00000350924:T291I;ENSP00000360320:T291I	ENSP00000350924:T291I	T	+	2	0	C1orf177	55052184	0.000000	0.05858	0.001000	0.08648	0.105000	0.19272	-0.041000	0.12084	0.262000	0.21774	-0.254000	0.11334	ACC	.	.		0.512	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607	
CLCA4	22802	hgsc.bcm.edu	37	1	87045742	87045742	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr1:87045742G>A	ENST00000370563.3	+	14	2516	c.2474G>A	c.(2473-2475)aGc>aAc	p.S825N	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	825					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TCCAAGGAAAGCTTTGCATTT	0.338																																					p.S825N		Atlas-SNP	.											.	CLCA4	131	.	0			c.G2474A						.						67.0	59.0	62.0					1																	87045742		1824	4088	5912	SO:0001583	missense	22802	exon14			AGGAAAGCTTTGC	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2474G>A	chr1.hg19:g.87045742G>A	ENSP00000359594:p.Ser825Asn	205.0	0.0		166.0	64.0	NM_012128	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	hg19	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	G	9.037	0.988681	0.18966	.	.	ENSG00000016602	ENST00000370563	T	0.02974	4.09	5.82	-7.28	0.01456	.	0.634996	0.16267	N	0.221984	T	0.00356	0.0011	N	0.10809	0.05	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.47381	-0.9122	10	0.20519	T	0.43	-0.0211	1.7568	0.02983	0.3695:0.2778:0.0774:0.2753	.	377;825	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	N	825	ENSP00000359594:S825N	ENSP00000359594:S825N	S	+	2	0	CLCA4	86818330	0.000000	0.05858	0.310000	0.25168	0.905000	0.53344	-1.428000	0.02439	-0.669000	0.05289	-1.239000	0.01543	AGC	.	.		0.338	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128	
DCAF6	55827	hgsc.bcm.edu	37	1	167971753	167971753	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr1:167971753C>T	ENST00000312263.6	+	8	1141	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C	DCAF6_ENST00000367843.3_Missense_Mutation_p.R313C|DCAF6_ENST00000432587.2_Missense_Mutation_p.R282C|DCAF6_ENST00000367840.3_Missense_Mutation_p.R313C	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	313					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TTTGAGACTTCGTGGTGATTG	0.403																																					p.R313C		Atlas-SNP	.											.	DCAF6	99	.	0			c.C937T						.						154.0	153.0	153.0					1																	167971753		2203	4300	6503	SO:0001583	missense	55827	exon8			AGACTTCGTGGTG	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.937C>T	chr1.hg19:g.167971753C>T	ENSP00000311949:p.Arg313Cys	131.0	0.0		145.0	97.0	NM_001198956	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	hg19	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174368	0.78452	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.88664	-2.28;-0.62;-2.26;-2.41	5.56	5.56	0.83823	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.92718	0.7685	M	0.74647	2.275	0.47245	D	0.999362	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.989;0.915;0.958	D	0.91966	0.5583	9	0.45353	T	0.12	.	14.6209	0.68584	0.1799:0.8201:0.0:0.0	.	282;313;313;313	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	C	313;282;313;313	ENSP00000356817:R313C;ENSP00000396238:R282C;ENSP00000311949:R313C;ENSP00000356814:R313C	ENSP00000311949:R313C	R	+	1	0	DCAF6	166238377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.470000	0.45119	2.787000	0.95880	0.650000	0.86243	CGT	.	.		0.403	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442	
KIAA1614	57710	hgsc.bcm.edu	37	1	180885825	180885825	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr1:180885825G>T	ENST00000367588.4	+	2	641	c.586G>T	c.(586-588)Gac>Tac	p.D196Y		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	196										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GACACTTCCTGACCATGACAG	0.637																																					p.D196Y		Atlas-SNP	.											.	KIAA1614	75	.	0			c.G586T						.						67.0	72.0	70.0					1																	180885825		1903	4101	6004	SO:0001583	missense	57710	exon2			CTTCCTGACCATG	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.586G>T	chr1.hg19:g.180885825G>T	ENSP00000356560:p.Asp196Tyr	100.0	0.0		103.0	11.0	NM_020950	Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	hg19	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081693	0.55753	.	.	ENSG00000135835	ENST00000367588	T	0.07444	3.19	4.39	4.39	0.52855	.	1.097620	0.07136	N	0.846383	T	0.19167	0.0460	N	0.24115	0.695	0.28439	N	0.916919	D	0.89917	1.0	D	0.70016	0.967	T	0.19257	-1.0311	9	0.72032	D	0.01	-8.1746	14.0028	0.64444	0.0:0.0:1.0:0.0	.	196	Q5VZ46	K1614_HUMAN	Y	196	ENSP00000356560:D196Y	ENSP00000356560:D196Y	D	+	1	0	KIAA1614	179152448	0.078000	0.21339	0.027000	0.17364	0.001000	0.01503	2.036000	0.41165	2.268000	0.75426	0.563000	0.77884	GAC	.	.		0.637	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531	
CACNA1S	779	hgsc.bcm.edu	37	1	201012432	201012432	+	Silent	SNP	A	A	G			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr1:201012432A>G	ENST00000362061.3	-	40	5251	c.5025T>C	c.(5023-5025)caT>caC	p.H1675H	CACNA1S_ENST00000367338.3_Silent_p.H1656H|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1675					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCTGTTGCTATGGTTGCTGT	0.547											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H1675H		Atlas-SNP	.											.	CACNA1S	249	.	0			c.T5025C						.						232.0	206.0	215.0					1																	201012432		2203	4300	6503	SO:0001819	synonymous_variant	779	exon40			GTTGCTATGGTTG	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5025T>C	chr1.hg19:g.201012432A>G		115.0	0.0	2118	86.0	62.0	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	hg19	CCDS1407.1																																																																																			.	.		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
TPO	7173	hgsc.bcm.edu	37	2	1481013	1481013	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr2:1481013C>A	ENST00000345913.4	+	8	1066	c.975C>A	c.(973-975)gaC>gaA	p.D325E	TPO_ENST00000337415.3_Missense_Mutation_p.D325E|TPO_ENST00000346956.3_Missense_Mutation_p.D325E|TPO_ENST00000329066.4_Missense_Mutation_p.D325E|TPO_ENST00000349624.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.D325E|TPO_ENST00000382198.1_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	325					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGTTCCTGGACGCGTCCACCG	0.697																																					p.D325E		Atlas-SNP	.											TPO,colon,carcinoma,0,1	TPO	224	.	0			c.C975A						.						20.0	18.0	19.0					2																	1481013		2201	4290	6491	SO:0001583	missense	7173	exon8			CCTGGACGCGTCC		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.975C>A	chr2.hg19:g.1481013C>A	ENSP00000318820:p.Asp325Glu	1079.0	1.0		1074.0	395.0	NM_175719	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	hg19	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682715	0.68157	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000536482;ENST00000329066;ENST00000382201;ENST00000422464	D;D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94	4.99	0.445	0.16597	.	0.000000	0.85682	D	0.000000	D	0.96765	0.8944	H	0.98068	4.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.995;0.995	D	0.94537	0.7741	10	0.87932	D	0	-48.4892	7.413	0.27027	0.0:0.2715:0.0:0.7285	.	325;325;325	P07202-4;P07202-2;P07202	.;.;PERT_HUMAN	E	325;325;325;9;325;325;254	ENSP00000337263:D325E;ENSP00000318820:D325E;ENSP00000263886:D325E;ENSP00000329869:D325E;ENSP00000371636:D325E;ENSP00000405788:D254E	ENSP00000329869:D325E	D	+	3	2	TPO	1460020	0.994000	0.37717	0.986000	0.45419	0.757000	0.42996	0.295000	0.19065	0.152000	0.19188	0.460000	0.39030	GAC	.	.		0.697	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
KLF11	8462	hgsc.bcm.edu	37	2	10192629	10192629	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr2:10192629G>A	ENST00000305883.1	+	4	1696	c.1534G>A	c.(1534-1536)Gcc>Acc	p.A512T	KLF11_ENST00000535335.1_Missense_Mutation_p.A495T|KLF11_ENST00000540845.1_Missense_Mutation_p.A495T|RP11-254F7.3_ENST00000607181.1_RNA	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	512					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GCCAGCCTCTGCCTGAAAGGT	0.532																																					p.A512T	Melanoma(56;431 1507 23687 50789)	Atlas-SNP	.											.	KLF11	45	.	0			c.G1534A						.						22.0	23.0	23.0					2																	10192629		2202	4297	6499	SO:0001583	missense	8462	exon4			GCCTCTGCCTGAA	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.1534G>A	chr2.hg19:g.10192629G>A	ENSP00000307023:p.Ala512Thr	99.0	0.0		79.0	42.0	NM_003597	B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	hg19	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	G	9.865	1.197419	0.22037	.	.	ENSG00000172059	ENST00000305883;ENST00000540845;ENST00000535335	T;T;T	0.14893	2.48;2.47;2.47	6.08	-0.256	0.12984	.	1.091710	0.06805	N	0.789414	T	0.10723	0.0262	N	0.19112	0.55	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.36696	-0.9737	10	0.49607	T	0.09	.	5.3178	0.15864	0.1876:0.0:0.4756:0.3369	.	512	O14901	KLF11_HUMAN	T	512;495;495	ENSP00000307023:A512T;ENSP00000444690:A495T;ENSP00000442722:A495T	ENSP00000307023:A512T	A	+	1	0	KLF11	10110080	0.003000	0.15002	0.002000	0.10522	0.034000	0.12701	0.498000	0.22530	-0.084000	0.12595	-0.216000	0.12614	GCC	.	.		0.532	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597	
LOXL3	84695	hgsc.bcm.edu	37	2	74763931	74763931	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr2:74763931C>A	ENST00000264094.3	-	5	888	c.817G>T	c.(817-819)Ggg>Tgg	p.G273W	LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.G273W|LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000409249.1_Missense_Mutation_p.G273W|LOXL3_ENST00000393937.2_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	273	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GGGCCCCCCCCAGGGCACCTG	0.647																																					p.G273W		Atlas-SNP	.											.	LOXL3	73	.	0			c.G817T						.						66.0	72.0	70.0					2																	74763931		2203	4300	6503	SO:0001583	missense	84695	exon5			CCCCCCCAGGGCA	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.817G>T	chr2.hg19:g.74763931C>A	ENSP00000264094:p.Gly273Trp	115.0	0.0		122.0	49.0	NM_032603	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	hg19	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057719	0.76074	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000409549;ENST00000413469	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	4.63	4.63	0.57726	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.122525	0.53938	D	0.000041	T	0.61048	0.2316	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.973;0.996	T	0.64676	-0.6351	10	0.59425	D	0.04	.	15.3571	0.74434	0.0:1.0:0.0:0.0	.	273;273	E7END4;P58215	.;LOXL3_HUMAN	W	273	ENSP00000264094:G273W;ENSP00000387103:G273W;ENSP00000386696:G273W;ENSP00000398260:G273W	ENSP00000264094:G273W	G	-	1	0	LOXL3	74617439	0.060000	0.20803	1.000000	0.80357	0.969000	0.65631	2.467000	0.45093	2.573000	0.86826	0.563000	0.77884	GGG	.	.		0.647	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603	
NMS	129521	hgsc.bcm.edu	37	2	101096961	101096961	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr2:101096961T>C	ENST00000376865.1	+	7	347	c.340T>C	c.(340-342)Tcg>Ccg	p.S114P		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	114					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CTTGCAGGGCTCGGGGACTGC	0.542																																					p.S114P		Atlas-SNP	.											.	NMS	26	.	0			c.T340C						.						121.0	114.0	117.0					2																	101096961		2203	4300	6503	SO:0001583	missense	129521	exon7			CAGGGCTCGGGGA	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.340T>C	chr2.hg19:g.101096961T>C	ENSP00000366061:p.Ser114Pro	112.0	0.0		111.0	33.0	NM_001011717		Missense_Mutation	SNP	ENST00000376865.1	hg19	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	T	7.473	0.647070	0.14516	.	.	ENSG00000204640	ENST00000376865	T	0.26223	1.75	3.53	-1.95	0.07548	.	0.603497	0.14808	N	0.297227	T	0.18467	0.0443	L	0.60455	1.87	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.31166	-0.9953	10	0.72032	D	0.01	-0.1112	0.6718	0.00860	0.3494:0.1062:0.1802:0.3642	.	114	Q5H8A3	NMS_HUMAN	P	114	ENSP00000366061:S114P	ENSP00000366061:S114P	S	+	1	0	NMS	100463393	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.077000	0.11394	-0.353000	0.08224	-0.336000	0.08194	TCG	.	.		0.542	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717	
SCN9A	6335	hgsc.bcm.edu	37	2	167162425	167162425	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr2:167162425G>T	ENST00000409435.1	-	4	472	c.473C>A	c.(472-474)aCt>aAt	p.T158N	SCN9A_ENST00000303354.6_Missense_Mutation_p.T159N|SCN9A_ENST00000409672.1_Missense_Mutation_p.T158N|SCN9A_ENST00000375387.4_Missense_Mutation_p.T159N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	158					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCAGTAAAAGTGTACCTAAA	0.358																																					p.T158N		Atlas-SNP	.											.	SCN9A	296	.	0			c.C473A						.						65.0	66.0	66.0					2																	167162425		1835	4090	5925	SO:0001583	missense	6335	exon5			GTAAAAGTGTACC	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.473C>A	chr2.hg19:g.167162425G>T	ENSP00000386330:p.Thr158Asn	241.0	0.0		269.0	79.0	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	hg19	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	g	33	5.251713	0.95336	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	5.85	5.85	0.93711	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99396	0.9787	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.981;0.998;0.985	D	0.98869	1.0765	10	0.87932	D	0	.	20.168	0.98156	0.0:0.0:1.0:0.0	.	158;158;159	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	N	158;159;159;158;23;23	ENSP00000386306:T158N;ENSP00000364536:T159N;ENSP00000304748:T159N;ENSP00000386330:T158N;ENSP00000413212:T23N;ENSP00000393141:T23N	ENSP00000304748:T159N	T	-	2	0	SCN9A	166870671	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.001000	0.88508	2.761000	0.94854	0.650000	0.86243	ACT	.	.		0.358	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
XIRP2	129446	hgsc.bcm.edu	37	2	167760305	167760305	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr2:167760305C>A	ENST00000409728.1	+	2	402	c.313C>A	c.(313-315)Cgc>Agc	p.R105S	XIRP2_ENST00000295237.9_Missense_Mutation_p.R105S|XIRP2_ENST00000420519.1_Missense_Mutation_p.R105S|XIRP2_ENST00000409043.1_Missense_Mutation_p.R105S|XIRP2_ENST00000409195.1_Missense_Mutation_p.R105S|XIRP2_ENST00000409756.2_Missense_Mutation_p.R105S	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R105C(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGCAGTCGGCGCAGGATTGA	0.512																																					p.R105S		Atlas-SNP	.											XIRP2_ENST00000409728,NS,carcinoma,-1,2	XIRP2	914	.	2	Substitution - Missense(2)	large_intestine(2)	c.C313A						.						114.0	116.0	115.0					2																	167760305		2024	4159	6183	SO:0001583	missense	129446	exon2			AGTCGGCGCAGGA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.313C>A	chr2.hg19:g.167760305C>A	ENSP00000386619:p.Arg105Ser	233.0	0.0		207.0	82.0	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	hg19	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678518	0.29783	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.82711	-1.63;-1.64;3.74;-1.63;-1.64;3.74	5.12	4.23	0.50019	.	.	.	.	.	D	0.88603	0.6481	.	.	.	0.29262	N	0.871235	D;D	0.76494	0.999;0.999	D;D	0.70935	0.961;0.971	T	0.82135	-0.0607	8	0.62326	D	0.03	-2.224	8.5532	0.33465	0.0:0.8965:0.0:0.1035	.	105;105	A4UGR9-4;A4UGR9-6	.;.	S	105	ENSP00000386454:R105S;ENSP00000386619:R105S;ENSP00000386840:R105S;ENSP00000386724:R105S;ENSP00000415541:R105S;ENSP00000295237:R105S	ENSP00000295237:R105S	R	+	1	0	XIRP2	167468551	0.964000	0.33143	0.939000	0.37840	0.218000	0.24690	1.551000	0.36233	2.390000	0.81377	0.655000	0.94253	CGC	.	.		0.512	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
TTN	7273	hgsc.bcm.edu	37	2	179600418	179600418	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr2:179600418C>T	ENST00000591111.1	-	48	14028	c.13804G>A	c.(13804-13806)Gtt>Att	p.V4602I	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V4919I|TTN_ENST00000342992.6_Missense_Mutation_p.V3675I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12354	Ig-like 26.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCACGTAACTGTGACTTTT	0.408																																					p.V4919I		Atlas-SNP	.											.	TTN	18412	.	0			c.G14755A						.						96.0	91.0	92.0					2																	179600418		1873	4104	5977	SO:0001583	missense	7273	exon50			ACGTAACTGTGAC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13804G>A	chr2.hg19:g.179600418C>T	ENSP00000465570:p.Val4602Ile	101.0	0.0		86.0	37.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.62	1.400690	0.25291	.	.	ENSG00000155657	ENST00000342992	T	0.72282	-0.64	5.77	1.32	0.21799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58750	0.2144	L	0.35593	1.075	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.55398	-0.8147	9	0.87932	D	0	.	11.4275	0.50020	0.0:0.7402:0.0:0.2598	.	4602	Q8WZ42	TITIN_HUMAN	I	3675	ENSP00000343764:V3675I	ENSP00000343764:V3675I	V	-	1	0	TTN	179308663	0.160000	0.22878	0.411000	0.26484	0.959000	0.62525	0.441000	0.21611	0.268000	0.21939	0.655000	0.94253	GTT	.	.		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
GPR1	2825	hgsc.bcm.edu	37	2	207041060	207041060	+	Silent	SNP	A	A	G			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr2:207041060A>G	ENST00000407325.2	-	3	1274	c.912T>C	c.(910-912)taT>taC	p.Y304Y	GPR1_ENST00000437420.1_Silent_p.Y304Y	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	304					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TAATTAGGACATAAAGGATGG	0.488																																					p.Y304Y		Atlas-SNP	.											.	GPR1	38	.	0			c.T912C						.						105.0	103.0	104.0					2																	207041060		2203	4300	6503	SO:0001819	synonymous_variant	2825	exon3			TAGGACATAAAGG		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.912T>C	chr2.hg19:g.207041060A>G		134.0	0.0		132.0	49.0	NM_001098199	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Silent	SNP	ENST00000407325.2	hg19	CCDS2368.1																																																																																			.	.		0.488	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199	
IL17RE	132014	hgsc.bcm.edu	37	3	9957185	9957185	+	Silent	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr3:9957185G>A	ENST00000383814.3	+	16	1803	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P	IL17RC_ENST00000413608.1_5'Flank|IL17RE_ENST00000421412.1_Silent_p.P599P|IL17RC_ENST00000416074.2_5'Flank|IL17RE_ENST00000295980.3_Silent_p.P566P|IL17RC_ENST00000295981.3_5'Flank|IL17RC_ENST00000383812.4_5'Flank|IL17RE_ENST00000454190.2_3'UTR|IL17RC_ENST00000403601.3_5'Flank|IL17RC_ENST00000455057.1_5'Flank	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	566	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		ACCTTCGCCCGGTCAGCGgcc	0.781																																					p.P606P		Atlas-SNP	.											.	IL17RE	62	.	0			c.G1818A						.						1.0	1.0	1.0					3																	9957185		734	1589	2323	SO:0001819	synonymous_variant	132014	exon17			TCGCCCGGTCAGC	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.1698G>A	chr3.hg19:g.9957185G>A		0.0	0.0		5.0	4.0	NM_153483	B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Silent	SNP	ENST00000383814.3	hg19	CCDS2589.1																																																																																			.	.		0.781	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480	
TATDN2	9797	hgsc.bcm.edu	37	3	10291105	10291105	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr3:10291105C>T	ENST00000287652.4	+	2	1272	c.221C>T	c.(220-222)tCc>tTc	p.S74F	TATDN2_ENST00000448281.2_Missense_Mutation_p.S74F|RP11-438J1.1_ENST00000450534.1_Missense_Mutation_p.S17F	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	74					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TGGGGCTCATCCCGCCGCAGA	0.637																																					p.S74F		Atlas-SNP	.											.	TATDN2	59	.	0			c.C221T						.						66.0	82.0	77.0					3																	10291105		2201	4297	6498	SO:0001583	missense	9797	exon2			GCTCATCCCGCCG	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.221C>T	chr3.hg19:g.10291105C>T	ENSP00000287652:p.Ser74Phe	233.0	0.0		227.0	91.0	NM_014760	Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	hg19	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045281	0.55110	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.26067	1.76;1.76	4.16	2.32	0.28847	.	.	.	.	.	T	0.23289	0.0563	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21280	-1.0250	9	0.52906	T	0.07	-4.1582	6.9762	0.24677	0.0:0.7834:0.0:0.2166	.	74	Q93075	TATD2_HUMAN	F	74	ENSP00000287652:S74F;ENSP00000408736:S74F	ENSP00000287652:S74F	S	+	2	0	TATDN2	10266105	0.000000	0.05858	0.058000	0.19502	0.834000	0.47266	0.218000	0.17622	0.484000	0.27630	0.563000	0.77884	TCC	.	.		0.637	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203	
CLEC3B	7123	hgsc.bcm.edu	37	3	45077310	45077310	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr3:45077310G>T	ENST00000296130.4	+	3	683	c.503G>T	c.(502-504)gGc>gTc	p.G168V	RNU5B-3P_ENST00000516601.1_RNA|CLEC3B_ENST00000428034.1_Missense_Mutation_p.G126V|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	168	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	CCCGATGGCGGCAAGACCGAG	0.652																																					p.G168V	GBM(139;1487 3263 30871)	Atlas-SNP	.											.	CLEC3B	15	.	0			c.G503T						.						39.0	41.0	40.0					3																	45077310		2202	4296	6498	SO:0001583	missense	7123	exon3			ATGGCGGCAAGAC		CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"""C-type lectin domain containing"""	11891	protein-coding gene	gene with protein product		187520	"""tetranectin (plasminogen binding protein)"""	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.503G>T	chr3.hg19:g.45077310G>T	ENSP00000296130:p.Gly168Val	183.0	0.0		149.0	49.0	NM_003278	Q6FGX6	Missense_Mutation	SNP	ENST00000296130.4	hg19	CCDS2726.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.576324	0.45902	.	.	ENSG00000163815	ENST00000296130;ENST00000428034	T;T	0.19938	2.11;2.11	4.38	3.49	0.39957	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.055195	0.64402	D	0.000001	T	0.51822	0.1697	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61907	-0.6966	10	0.59425	D	0.04	-23.3689	14.4498	0.67376	0.0:0.1488:0.8512:0.0	.	168	P05452	TETN_HUMAN	V	168;126	ENSP00000296130:G168V;ENSP00000396013:G126V	ENSP00000296130:G168V	G	+	2	0	CLEC3B	45052314	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	6.108000	0.71522	0.939000	0.37446	-0.305000	0.09177	GGC	.	.		0.652	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256745.1	NM_003278	
RBM15B	29890	hgsc.bcm.edu	37	3	51430282	51430282	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr3:51430282G>T	ENST00000323686.4	+	1	1552	c.1452G>T	c.(1450-1452)agG>agT	p.R484S		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	484	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGACCGCAGGCTCCGCGTGG	0.562																																					p.R484S		Atlas-SNP	.											.	RBM15B	47	.	0			c.G1452T						.						55.0	59.0	57.0					3																	51430282		2203	4300	6503	SO:0001583	missense	29890	exon1			CCGCAGGCTCCGC	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1452G>T	chr3.hg19:g.51430282G>T	ENSP00000313890:p.Arg484Ser	56.0	0.0		45.0	11.0	NM_013286	A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	hg19	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464469	0.63513	.	.	ENSG00000179837	ENST00000323686;ENST00000541145	T	0.06142	3.34	5.55	3.78	0.43462	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.	.	.	.	T	0.15825	0.0381	L	0.47716	1.5	0.58432	D	0.999999	D	0.65815	0.995	D	0.67548	0.952	T	0.00305	-1.1831	9	0.66056	D	0.02	-25.1014	10.2649	0.43449	0.2665:0.0:0.7335:0.0	.	484	Q8NDT2	RB15B_HUMAN	S	484;157	ENSP00000313890:R484S	ENSP00000313890:R484S	R	+	3	2	RBM15B	51405322	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.287000	0.18920	0.721000	0.32231	-0.136000	0.14681	AGG	.	.		0.562	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286	
EPHA3	2042	hgsc.bcm.edu	37	3	89156962	89156962	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr3:89156962C>A	ENST00000336596.2	+	1	289	c.64C>A	c.(64-66)Ctg>Atg	p.L22M	EPHA3_ENST00000452448.2_Missense_Mutation_p.L22M|EPHA3_ENST00000494014.1_Missense_Mutation_p.L22M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	22					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTTCGGGGAACTGATTCCGCA	0.587										TSP Lung(6;0.00050)																											p.L22M		Atlas-SNP	.											.	EPHA3	501	.	0			c.C64A						.						145.0	113.0	124.0					3																	89156962		2203	4300	6503	SO:0001583	missense	2042	exon1			GGGGAACTGATTC	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.64C>A	chr3.hg19:g.89156962C>A	ENSP00000337451:p.Leu22Met	82.0	0.0		66.0	26.0	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	hg19	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981746	0.34942	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.73047	-0.69;2.76;-0.71	5.46	1.49	0.22878	.	0.193191	0.35646	N	0.003062	T	0.52869	0.1761	N	0.24115	0.695	0.34559	D	0.712159	B;P	0.40794	0.38;0.729	B;B	0.41946	0.135;0.371	T	0.56153	-0.8026	9	.	.	.	.	6.8658	0.24093	0.1203:0.5811:0.2326:0.066	.	22;22	P29320;P29320-2	EPHA3_HUMAN;.	M	22	ENSP00000337451:L22M;ENSP00000399926:L22M;ENSP00000419190:L22M	.	L	+	1	2	EPHA3	89239652	1.000000	0.71417	0.992000	0.48379	0.155000	0.21991	1.126000	0.31344	0.245000	0.21373	-0.467000	0.05162	CTG	.	.		0.587	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
ILDR1	286676	hgsc.bcm.edu	37	3	121724154	121724154	+	Missense_Mutation	SNP	G	G	A	rs200029008		TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr3:121724154G>A	ENST00000344209.5	-	3	442	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	ILDR1_ENST00000273691.3_Missense_Mutation_p.R106W|ILDR1_ENST00000393631.1_Missense_Mutation_p.R106W|ILDR1_ENST00000462014.1_Missense_Mutation_p.R118W|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	106	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TTCTGCCCCCGCCGCTGGGCC	0.627																																					p.R106W		Atlas-SNP	.											.	ILDR1	120	.	0			c.C316T						.						44.0	44.0	44.0					3																	121724154		2203	4300	6503	SO:0001583	missense	286676	exon3			GCCCCCGCCGCTG	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.316C>T	chr3.hg19:g.121724154G>A	ENSP00000345667:p.Arg106Trp	115.0	0.0		105.0	37.0	NM_175924	Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	hg19	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975973	0.74360	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.63	4.74	0.60224	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.097924	0.64402	D	0.000002	T	0.68274	0.2983	L	0.57536	1.79	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.987;0.994;0.994	T	0.71490	-0.4577	10	0.72032	D	0.01	-33.643	13.8564	0.63529	0.0:0.0:0.846:0.154	.	106;106;106;118	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	W	106;106;106;118	ENSP00000273691:R106W;ENSP00000345667:R106W;ENSP00000377251:R106W;ENSP00000419414:R118W	ENSP00000273691:R106W	R	-	1	2	ILDR1	123206844	0.866000	0.29940	0.950000	0.38849	0.814000	0.46013	1.920000	0.40025	1.464000	0.47987	0.563000	0.77884	CGG	.	G|0.999;A|0.001		0.627	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924	
ATR	545	hgsc.bcm.edu	37	3	142279231	142279231	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr3:142279231G>C	ENST00000350721.4	-	6	1536	c.1415C>G	c.(1414-1416)tCc>tGc	p.S472C	ATR_ENST00000383101.3_Intron	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	472					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						AATCTGAAGGGATTCAGCTTT	0.353								Other conserved DNA damage response genes																													p.S472C		Atlas-SNP	.											.	ATR	285	.	0			c.C1415G						.						172.0	173.0	173.0					3																	142279231		2203	4300	6503	SO:0001583	missense	545	exon6			TGAAGGGATTCAG	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.1415C>G	chr3.hg19:g.142279231G>C	ENSP00000343741:p.Ser472Cys	204.0	0.0		136.0	54.0	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	hg19	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085421	0.55861	.	.	ENSG00000175054	ENST00000350721	T	0.03772	3.81	5.71	2.82	0.32997	Armadillo-type fold (1);	0.509864	0.21286	N	0.077064	T	0.04227	0.0117	L	0.34521	1.04	0.80722	D	1	P	0.44344	0.833	B	0.39185	0.293	T	0.49133	-0.8971	10	0.87932	D	0	0.4881	7.2793	0.26302	0.1511:0.0:0.7124:0.1365	.	472	Q13535	ATR_HUMAN	C	472	ENSP00000343741:S472C	ENSP00000343741:S472C	S	-	2	0	ATR	143761921	1.000000	0.71417	0.817000	0.32601	0.998000	0.95712	3.156000	0.50708	0.287000	0.22375	0.585000	0.79938	TCC	.	.		0.353	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
ARHGEF26	26084	hgsc.bcm.edu	37	3	153943788	153943788	+	Silent	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr3:153943788C>T	ENST00000356448.4	+	11	2363	c.2079C>T	c.(2077-2079)acC>acT	p.T693T	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Silent_p.T693T|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	693	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TCATTATCACCAAGAAGAAGA	0.388																																					p.T693T	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	Atlas-SNP	.											.	ARHGEF26	158	.	0			c.C2079T						.						82.0	72.0	75.0					3																	153943788		1884	4109	5993	SO:0001819	synonymous_variant	26084	exon11			TATCACCAAGAAG	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2079C>T	chr3.hg19:g.153943788C>T		132.0	0.0		101.0	30.0	NM_001251962	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Silent	SNP	ENST00000356448.4	hg19	CCDS46938.1																																																																																			.	.		0.388	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
OPA1	4976	hgsc.bcm.edu	37	3	193384162	193384162	+	Silent	SNP	A	A	G			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr3:193384162A>G	ENST00000392438.3	+	26	2925	c.2691A>G	c.(2689-2691)caA>caG	p.Q897Q	OPA1_ENST00000361510.2_Silent_p.Q952Q|OPA1_ENST00000361150.2_Silent_p.Q898Q|OPA1_ENST00000361908.3_Silent_p.Q934Q|OPA1_ENST00000361828.2_Silent_p.Q915Q|OPA1_ENST00000361715.2_Silent_p.Q916Q	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	897					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TAAGGCAACAACTTACAAATA	0.343																																					p.Q952Q		Atlas-SNP	.											.	OPA1	79	.	0			c.A2856G						.						125.0	116.0	119.0					3																	193384162		2203	4300	6503	SO:0001819	synonymous_variant	4976	exon28			GCAACAACTTACA	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2691A>G	chr3.hg19:g.193384162A>G		143.0	0.0		114.0	45.0	NM_130837	D3DNW4	Silent	SNP	ENST00000392438.3	hg19	CCDS43186.1																																																																																			.	.		0.343	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837	
ZNF732	654254	hgsc.bcm.edu	37	4	265712	265712	+	Missense_Mutation	SNP	C	C	G			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr4:265712C>G	ENST00000419098.1	-	4	944	c.934G>C	c.(934-936)Ggc>Cgc	p.G312R		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						AAGACTTTGCCACATTCCTGA	0.383																																					p.G311R		Atlas-SNP	.											.	ZNF732	117	.	0			c.G931C						.						70.0	66.0	67.0					4																	265712		692	1591	2283	SO:0001583	missense	654254	exon3			CTTTGCCACATTC	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.934G>C	chr4.hg19:g.265712C>G	ENSP00000415774:p.Gly312Arg	98.0	0.0		74.0	26.0	NM_001137608		Missense_Mutation	SNP	ENST00000419098.1	hg19	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163831	0.38217	.	.	ENSG00000186777	ENST00000419098	T	0.01484	4.84	0.977	0.977	0.19733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08447	0.0210	M	0.80746	2.51	0.31811	N	0.627117	D	0.89917	1.0	D	0.91635	0.999	T	0.04454	-1.0950	9	0.72032	D	0.01	.	7.3306	0.26580	0.0:1.0:0.0:0.0	.	312	B4DXR9	ZN732_HUMAN	R	312	ENSP00000415774:G312R	ENSP00000415774:G312R	G	-	1	0	ZNF732	255712	1.000000	0.71417	0.102000	0.21198	0.094000	0.18550	3.564000	0.53791	0.399000	0.25367	0.400000	0.26472	GGC	.	.		0.383	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608	
BOD1L1	259282	hgsc.bcm.edu	37	4	13605490	13605490	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr4:13605490G>A	ENST00000040738.5	-	10	3169	c.3034C>T	c.(3034-3036)Ctt>Ttt	p.L1012F		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1012	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TTTCTCTCAAGCCTGGTGGAA	0.383																																					p.L1012F		Atlas-SNP	.											.	.	.	.	0			c.C3034T						.						234.0	251.0	245.0					4																	13605490		2202	4300	6502	SO:0001583	missense	259282	exon10			TCTCAAGCCTGGT	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3034C>T	chr4.hg19:g.13605490G>A	ENSP00000040738:p.Leu1012Phe	92.0	0.0		89.0	8.0	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	hg19	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646714	0.29246	.	.	ENSG00000038219	ENST00000040738	T	0.13538	2.58	5.1	4.19	0.49359	.	0.168276	0.28706	N	0.014407	T	0.26376	0.0644	L	0.53249	1.67	0.23120	N	0.998265	D	0.58268	0.982	P	0.55824	0.785	T	0.02365	-1.1170	10	0.52906	T	0.07	-3.9775	15.3079	0.74008	0.0:0.1404:0.8596:0.0	.	1012	Q8NFC6	BOD1L_HUMAN	F	1012	ENSP00000040738:L1012F	ENSP00000040738:L1012F	L	-	1	0	BOD1L	13214588	0.981000	0.34729	0.110000	0.21437	0.195000	0.23768	1.541000	0.36126	2.534000	0.85438	0.555000	0.69702	CTT	.	.		0.383	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
OCIAD2	132299	hgsc.bcm.edu	37	4	48894859	48894859	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr4:48894859C>T	ENST00000508632.1	-	6	545	c.313G>A	c.(313-315)Gta>Ata	p.V105I	OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Intron	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	105	OCIA.					endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						CTCTGGCATACTCCTATGTAT	0.413																																					p.V105I		Atlas-SNP	.											.	OCIAD2	16	.	0			c.G313A						.						136.0	141.0	139.0					4																	48894859		2203	4300	6503	SO:0001583	missense	132299	exon6			GGCATACTCCTAT	BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.313G>A	chr4.hg19:g.48894859C>T	ENSP00000423014:p.Val105Ile	452.0	0.0		408.0	167.0	NM_001014446	B4DPE7|Q8N544	Missense_Mutation	SNP	ENST00000508632.1	hg19	CCDS33981.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481291	0.26598	.	.	ENSG00000145247	ENST00000508632	T	0.43688	0.94	4.76	4.76	0.60689	.	0.326941	0.27659	N	0.018388	T	0.27278	0.0669	N	0.14661	0.345	0.80722	D	1	B	0.26935	0.164	B	0.31191	0.125	T	0.07481	-1.0770	9	.	.	.	-3.3541	13.4643	0.61245	0.0:1.0:0.0:0.0	.	105	Q56VL3	OCAD2_HUMAN	I	105	ENSP00000423014:V105I	.	V	-	1	0	OCIAD2	48589616	0.637000	0.27216	0.103000	0.21229	0.426000	0.31534	1.028000	0.30128	2.649000	0.89929	0.650000	0.86243	GTA	.	.		0.413	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361984.5	NM_152398	
SYNPO2	171024	hgsc.bcm.edu	37	4	119952156	119952156	+	Silent	SNP	T	T	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr4:119952156T>A	ENST00000429713.2	+	4	2408	c.2226T>A	c.(2224-2226)gcT>gcA	p.A742A	SYNPO2_ENST00000434046.2_Silent_p.A742A|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Silent_p.A742A	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	742						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGCAGAGGCTTGTAATTTCA	0.517																																					p.A742A		Atlas-SNP	.											.	SYNPO2	353	.	0			c.T2226A						.						74.0	82.0	80.0					4																	119952156		2203	4300	6503	SO:0001819	synonymous_variant	171024	exon4			AGAGGCTTGTAAT	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2226T>A	chr4.hg19:g.119952156T>A		143.0	0.0		93.0	47.0	NM_001128934	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	hg19	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	T	7.638	0.680352	0.14907	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.41	-3.3	0.05003	.	.	.	.	.	T	0.47544	0.1451	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41142	-0.9525	4	.	.	.	-16.7542	5.0415	0.14462	0.2268:0.363:0.0:0.4102	.	.	.	.	M	694	.	.	L	+	1	2	SYNPO2	120171604	0.967000	0.33354	0.827000	0.32855	0.882000	0.50991	0.015000	0.13355	-0.551000	0.06175	-0.290000	0.09829	TTG	.	.		0.517	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
GYPE	2996	hgsc.bcm.edu	37	4	144801586	144801586	+	Silent	SNP	A	A	G			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr4:144801586A>G	ENST00000358615.4	-	2	165	c.114T>C	c.(112-114)agT>agC	p.S38S	GYPE_ENST00000437468.2_Silent_p.S38S	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	38						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					ATGAGATGTAACTCTTTGTGA	0.373																																					p.S38S		Atlas-SNP	.											.	GYPE	21	.	0			c.T114C						.						169.0	183.0	178.0					4																	144801586		2203	4298	6501	SO:0001819	synonymous_variant	2996	exon2			GATGTAACTCTTT		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.114T>C	chr4.hg19:g.144801586A>G		525.0	0.0		330.0	32.0	NM_198682	D3DNZ5	Silent	SNP	ENST00000358615.4	hg19	CCDS47138.1																																																																																			.	.		0.373	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102	
PCDHGA2	56113	hgsc.bcm.edu	37	5	140720901	140720901	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr5:140720901A>G	ENST00000394576.2	+	1	2363	c.2363A>G	c.(2362-2364)aAg>aGg	p.K788R	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	788					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAGAAAAAGGATTTTTTA	0.478																																					p.K788R		Atlas-SNP	.											.	PCDHGA2	205	.	0			c.A2363G						.						89.0	96.0	93.0					5																	140720901		2203	4300	6503	SO:0001583	missense	56113	exon1			AGAAAAAGGATTT	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2363A>G	chr5.hg19:g.140720901A>G	ENSP00000378077:p.Lys788Arg	336.0	0.0		281.0	26.0	NM_018915	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	hg19	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	9.307	1.054594	0.19907	.	.	ENSG00000081853	ENST00000394576	T	0.49432	0.78	4.56	0.736	0.18307	.	0.394621	0.17653	U	0.166607	T	0.34890	0.0913	L	0.54323	1.7	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.13407	0.008;0.009	T	0.28839	-1.0031	10	0.46703	T	0.11	.	1.6275	0.02726	0.4657:0.2548:0.1554:0.124	.	788;788	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	R	788	ENSP00000378077:K788R	ENSP00000378077:K788R	K	+	2	0	PCDHGA2	140701085	0.362000	0.24980	0.886000	0.34754	0.831000	0.47069	0.002000	0.13061	0.043000	0.15746	0.402000	0.26972	AAG	.	.		0.478	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
FAT2	2196	hgsc.bcm.edu	37	5	150886785	150886785	+	Silent	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr5:150886785C>T	ENST00000261800.5	-	22	12459	c.12447G>A	c.(12445-12447)ccG>ccA	p.P4149P	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4149					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGCAGCTGGCGGGAGTCTGG	0.562																																					p.P4149P		Atlas-SNP	.											.	FAT2	465	.	0			c.G12447A						.						91.0	97.0	95.0					5																	150886785		2203	4300	6503	SO:0001819	synonymous_variant	2196	exon22			AGCTGGCGGGAGT	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12447G>A	chr5.hg19:g.150886785C>T		89.0	0.0		71.0	28.0	NM_001447	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	0.043	-1.276884	0.01410	.	.	ENSG00000086570	ENST00000520200	.	.	.	4.75	-9.49	0.00587	.	.	.	.	.	T	0.47002	0.1422	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56001	-0.8051	4	.	.	.	.	8.7785	0.34776	0.0:0.3505:0.2423:0.4072	.	.	.	.	T	922	.	.	A	-	1	0	FAT2	150866978	0.006000	0.16342	0.295000	0.24960	0.009000	0.06853	-2.669000	0.00845	-1.938000	0.01046	-1.740000	0.00687	GCC	.	.		0.562	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAM50B	26240	hgsc.bcm.edu	37	6	3850894	3850894	+	Silent	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr6:3850894G>A	ENST00000380274.1	+	1	1275	c.849G>A	c.(847-849)gaG>gaA	p.E283E	FAM50B_ENST00000380272.3_Silent_p.E283E			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	283						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCACCATGGAGAAGGACGAGT	0.637																																					p.E283E		Atlas-SNP	.											.	FAM50B	44	.	0			c.G849A						.						73.0	60.0	65.0					6																	3850894		2203	4300	6503	SO:0001819	synonymous_variant	26240	exon2			CATGGAGAAGGAC	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.849G>A	chr6.hg19:g.3850894G>A		128.0	0.0		90.0	20.0	NM_012135	Q5T2L6	Silent	SNP	ENST00000380274.1	hg19	CCDS4487.1																																																																																			.	.		0.637	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135	
HIST1H3H	8357	hgsc.bcm.edu	37	6	27777979	27777979	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr6:27777979G>A	ENST00000369163.2	+	1	138	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	43					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CATCGCTATCGGCCTGGTACA	0.647																																					p.R43Q		Atlas-SNP	.											.	HIST1H3H	25	.	0			c.G128A						.						46.0	48.0	47.0					6																	27777979		2203	4300	6503	SO:0001583	missense	8357	exon1			GCTATCGGCCTGG	Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"""Histones / Replication-dependent"""	4775	protein-coding gene	gene with protein product		602818	"""H3 histone family, member K"", ""histone 1, H3h"""	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.128G>A	chr6.hg19:g.27777979G>A	ENSP00000358160:p.Arg43Gln	138.0	0.0		121.0	48.0	NM_003536	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000369163.2	hg19	CCDS4627.1	.	.	.	.	.	.	.	.	.	.	.	15.73	2.918896	0.52546	.	.	ENSG00000203813	ENST00000369163	T	0.49432	0.78	4.33	4.33	0.51752	.	.	.	.	.	T	0.55986	0.1955	.	.	.	0.35348	D	0.787116	.	.	.	.	.	.	T	0.64101	-0.6486	6	0.87932	D	0	.	16.683	0.85297	0.0:0.0:1.0:0.0	.	.	.	.	Q	43	ENSP00000358160:R43Q	ENSP00000358160:R43Q	R	+	2	0	HIST1H3H	27885958	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	7.483000	0.81158	2.329000	0.79093	0.655000	0.94253	CGG	.	.		0.647	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1	NM_003536	
CFB	629	hgsc.bcm.edu	37	6	31915209	31915209	+	Missense_Mutation	SNP	A	A	C			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr6:31915209A>C	ENST00000425368.2	+	4	1082	c.569A>C	c.(568-570)cAc>cCc	p.H190P	CFB_ENST00000477310.1_Missense_Mutation_p.H541P|CFB_ENST00000556679.1_Missense_Mutation_p.H692P|CFB_ENST00000456570.1_Missense_Mutation_p.H692P	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	190	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GTCACCTACCACTGCAGCCGG	0.632																																					p.H190P		Atlas-SNP	.											.	CFB	33	.	0			c.A569C						.						112.0	112.0	112.0					6																	31915209		1510	2707	4217	SO:0001583	missense	629	exon4			CCTACCACTGCAG	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.569A>C	chr6.hg19:g.31915209A>C	ENSP00000416561:p.His190Pro	88.0	0.0		77.0	32.0	NM_001710	B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	hg19	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.164165	0.57476	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.93	3.74	0.42951	Complement control module (2);Sushi/SCR/CCP (3);	0.631464	0.14107	N	0.340986	T	0.48677	0.1513	M	0.72118	2.19	0.29267	N	0.870918	P;B;P	0.44734	0.805;0.324;0.842	P;B;B	0.48189	0.57;0.397;0.377	T	0.44590	-0.9318	10	0.38643	T	0.18	-7.7263	5.545	0.17059	0.646:0.1806:0.0:0.1734	.	692;190;190	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	P	692;190;692;541	ENSP00000451848:H692P;ENSP00000416561:H190P;ENSP00000410815:H692P;ENSP00000418996:H541P	ENSP00000416561:H190P	H	+	2	0	CFB;XXbac-BPG116M5.17	32023188	0.185000	0.23213	0.998000	0.56505	0.817000	0.46193	0.972000	0.29409	0.876000	0.35872	0.533000	0.62120	CAC	.	.		0.632	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710	
KLHDC3	116138	hgsc.bcm.edu	37	6	42988468	42988468	+	Silent	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr6:42988468G>T	ENST00000326974.4	+	11	1341	c.1146G>T	c.(1144-1146)ggG>ggT	p.G382G	RRP36_ENST00000244496.5_5'Flank|KLHDC3_ENST00000244670.8_Silent_p.G248G|KLHDC3_ENST00000332245.8_Silent_p.G323G	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	382					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCTCCCATGGGTAGGAGGAAG	0.567																																					p.G382G		Atlas-SNP	.											.	KLHDC3	23	.	0			c.G1146T						.						129.0	107.0	114.0					6																	42988468		2203	4300	6503	SO:0001819	synonymous_variant	116138	exon11			CCATGGGTAGGAG	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.1146G>T	chr6.hg19:g.42988468G>T		88.0	0.0		74.0	25.0	NM_057161	A8K2W9	Silent	SNP	ENST00000326974.4	hg19	CCDS4880.1																																																																																			.	.		0.567	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161	
MACC1	346389	hgsc.bcm.edu	37	7	20198211	20198211	+	Silent	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr7:20198211C>T	ENST00000400331.5	-	5	2081	c.1773G>A	c.(1771-1773)caG>caA	p.Q591Q	MACC1_ENST00000332878.4_Silent_p.Q591Q|MACC1_ENST00000589011.1_Silent_p.Q591Q	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	591	SH3.				positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TCACTTTGGACTGACCAATAG	0.403																																					p.Q591Q		Atlas-SNP	.											.	MACC1	99	.	0			c.G1773A						.						169.0	166.0	167.0					7																	20198211		2203	4300	6503	SO:0001819	synonymous_variant	346389	exon5			TTTGGACTGACCA		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1773G>A	chr7.hg19:g.20198211C>T		105.0	0.0		91.0	13.0	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Silent	SNP	ENST00000400331.5	hg19	CCDS5369.1																																																																																			.	.		0.403	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
HOXA13	3209	hgsc.bcm.edu	37	7	27239233	27239233	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr7:27239233G>C	ENST00000222753.4	-	1	492	c.464C>G	c.(463-465)cCc>cGc	p.P155R	HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000521028.2_RNA|HOTTIP_ENST00000605136.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	155					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TGCCGAGCAGGGGCTGCATTG	0.801			T	NUP98	AML																																p.P155R		Atlas-SNP	.		Dom	yes		7	7p15-p14.2	3209	homeo box A13		L	.	HOXA13	25	.	0			c.C464G						.						1.0	1.0	1.0					7																	27239233		986	2182	3168	SO:0001583	missense	3209	exon1			GAGCAGGGGCTGC		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"""Homeoboxes / ANTP class : HOXL subclass"""	5102	protein-coding gene	gene with protein product		142959	"""homeo box A13"""	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.464C>G	chr7.hg19:g.27239233G>C	ENSP00000222753:p.Pro155Arg	250.0	0.0		247.0	101.0	NM_000522	A4D188|O43371	Missense_Mutation	SNP	ENST00000222753.4	hg19	CCDS5412.1	.	.	.	.	.	.	.	.	.	.	g	15.85	2.956238	0.53293	.	.	ENSG00000106031	ENST00000222753	T	0.63913	-0.07	3.33	3.33	0.38152	.	0.063753	0.64402	U	0.000005	T	0.68604	0.3019	M	0.77313	2.365	0.46149	D	0.99889	D	0.55172	0.97	P	0.47864	0.559	T	0.76558	-0.2915	10	0.62326	D	0.03	.	15.0423	0.71799	0.0:0.0:1.0:0.0	.	155	P31271	HXA13_HUMAN	R	155	ENSP00000222753:P155R	ENSP00000222753:P155R	P	-	2	0	HOXA13	27205758	1.000000	0.71417	0.986000	0.45419	0.816000	0.46133	5.279000	0.65597	1.584000	0.49913	0.450000	0.29827	CCC	.	.		0.801	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3		
ABCA13	154664	hgsc.bcm.edu	37	7	48313700	48313700	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr7:48313700A>T	ENST00000435803.1	+	17	4461	c.4437A>T	c.(4435-4437)gaA>gaT	p.E1479D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1479					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGTCTTTGAAAAAGAGAAGA	0.289																																					p.E1479D		Atlas-SNP	.											.	ABCA13	1192	.	0			c.A4437T						.						23.0	24.0	23.0					7																	48313700		1798	4036	5834	SO:0001583	missense	154664	exon17			CTTTGAAAAAGAG	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4437A>T	chr7.hg19:g.48313700A>T	ENSP00000411096:p.Glu1479Asp	273.0	0.0		239.0	98.0	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.701108	0.30142	.	.	ENSG00000179869	ENST00000435803	D	0.91407	-2.84	5.44	2.99	0.34606	.	0.265429	0.26478	N	0.024147	D	0.85066	0.5612	L	0.55481	1.735	0.80722	D	1	B	0.15719	0.014	B	0.15484	0.013	T	0.74822	-0.3534	9	.	.	.	.	5.7675	0.18235	0.7725:0.0:0.0795:0.1479	.	1479	Q86UQ4	ABCAD_HUMAN	D	1479	ENSP00000411096:E1479D	.	E	+	3	2	ABCA13	48284246	0.895000	0.30542	0.979000	0.43373	0.480000	0.33159	0.098000	0.15189	0.411000	0.25702	-0.376000	0.06991	GAA	.	.		0.289	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
MUC17	140453	hgsc.bcm.edu	37	7	100677098	100677098	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr7:100677098C>A	ENST00000306151.4	+	3	2465	c.2401C>A	c.(2401-2403)Cct>Act	p.P801T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	801	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AATCTCAACTCCTAGTGAAGG	0.468																																					p.P801T		Atlas-SNP	.											.	MUC17	804	.	0			c.C2401A						.						280.0	286.0	284.0					7																	100677098		2203	4300	6503	SO:0001583	missense	140453	exon3			TCAACTCCTAGTG	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2401C>A	chr7.hg19:g.100677098C>A	ENSP00000302716:p.Pro801Thr	84.0	0.0		82.0	7.0	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.483	-0.878777	0.02550	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	1.08	-2.17	0.07059	.	.	.	.	.	T	0.01976	0.0062	L	0.27053	0.805	0.09310	N	1	B	0.20459	0.045	B	0.13407	0.009	T	0.48525	-0.9028	9	0.07325	T	0.83	.	2.4611	0.04541	0.4826:0.3166:0.0:0.2008	.	801	Q685J3	MUC17_HUMAN	T	801	ENSP00000302716:P801T	ENSP00000302716:P801T	P	+	1	0	MUC17	100463818	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.807000	0.00183	-0.613000	0.05694	0.134000	0.15878	CCT	.	.		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
CADPS2	93664	hgsc.bcm.edu	37	7	122033326	122033326	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr7:122033326G>T	ENST00000449022.2	-	22	2951	c.2932C>A	c.(2932-2934)Cca>Aca	p.P978T	RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000313070.7_Intron|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Missense_Mutation_p.P976T	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	978	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GGCAGACTTGGAACTTTTGGA	0.428																																					p.P982T		Atlas-SNP	.											.	CADPS2	116	.	0			c.C2944A						.						109.0	106.0	107.0					7																	122033326		1945	4146	6091	SO:0001583	missense	93664	exon22			GACTTGGAACTTT		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2932C>A	chr7.hg19:g.122033326G>T	ENSP00000398481:p.Pro978Thr	222.0	0.0		209.0	11.0	NM_001167940	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	hg19	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.83|13.83	2.354333|2.354333	0.41700|0.41700	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000462699|ENST00000360097;ENST00000334010;ENST00000420900;ENST00000449022	.|T;T	.|0.28069	.|1.63;1.63	5.63|5.63	2.59|2.59	0.31030|0.31030	.|Munc13 homology 1 (1);	.|0.123889	.|0.56097	.|D	.|0.000038	T|T	0.26774|0.26774	0.0655|0.0655	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B;B	.|0.26081	.|0.043;0.141	.|B;B	.|0.31016	.|0.077;0.123	T|T	0.04635|0.04635	-1.0937|-1.0937	5|10	.|0.15066	.|T	.|0.55	-4.3754|-4.3754	17.9093|17.9093	0.88929|0.88929	0.0:0.4547:0.5453:0.0|0.0:0.4547:0.5453:0.0	.|.	.|982;978	.|B7ZM57;Q86UW7	.|.;CAPS2_HUMAN	L|T	171|151;976;983;978	.|ENSP00000333940:P976T;ENSP00000398481:P978T	.|ENSP00000333940:P976T	F|P	-|-	3|1	2|0	CADPS2|CADPS2	121820562|121820562	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.459000|4.459000	0.60102|0.60102	0.799000|0.799000	0.34018|0.34018	0.655000|0.655000	0.94253|0.94253	TTC|CCA	.	.		0.428	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954	
TAS2R38	5726	hgsc.bcm.edu	37	7	141673088	141673088	+	Silent	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr7:141673088G>A	ENST00000547270.1	-	1	485	c.402C>T	c.(400-402)agC>agT	p.S134S		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	134					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TGGAGACCCAGCTTGCCAAGC	0.517																																					p.S134S		Atlas-SNP	.											.	TAS2R38	51	.	0			c.C402T						.						46.0	43.0	44.0					7																	141673088		2203	4300	6503	SO:0001819	synonymous_variant	5726	exon1			GACCCAGCTTGCC	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.402C>T	chr7.hg19:g.141673088G>A		137.0	0.0		120.0	37.0	NM_176817	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP	ENST00000547270.1	hg19	CCDS34765.1																																																																																			.	.		0.517	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817	
PRSS55	203074	hgsc.bcm.edu	37	8	10396245	10396245	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr8:10396245G>A	ENST00000328655.3	+	5	1041	c.1001G>A	c.(1000-1002)aGa>aAa	p.R334K	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	334						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGCAGCCCCAGATCCTGGCTC	0.522																																					p.R334K		Atlas-SNP	.											.	PRSS55	67	.	0			c.G1001A						.						98.0	110.0	106.0					8																	10396245		2203	4300	6503	SO:0001583	missense	203074	exon5			GCCCCAGATCCTG	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.1001G>A	chr8.hg19:g.10396245G>A	ENSP00000333003:p.Arg334Lys	123.0	0.0		94.0	15.0	NM_198464	E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	hg19	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	9.479	1.097580	0.20552	.	.	ENSG00000184647	ENST00000328655	D	0.87809	-2.3	3.29	-1.36	0.09085	.	0.596206	0.12735	N	0.443488	T	0.72598	0.3480	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.54629	-0.8265	10	0.14656	T	0.56	.	4.8992	0.13766	0.228:0.4323:0.3397:0.0	.	334	Q6UWB4	PRS55_HUMAN	K	334	ENSP00000333003:R334K	ENSP00000333003:R334K	R	+	2	0	PRSS55	10433655	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.142000	0.10311	-0.291000	0.09012	-0.150000	0.13652	AGA	.	.		0.522	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	
XKR4	114786	hgsc.bcm.edu	37	8	56436289	56436289	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr8:56436289G>T	ENST00000327381.6	+	3	1556	c.1456G>T	c.(1456-1458)Gca>Tca	p.A486S	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	486						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GATTGCAGACGCATTTGCCAT	0.463																																					p.A486S		Atlas-SNP	.											XKR4,NS,carcinoma,0,1	XKR4	104	.	0			c.G1456T						.						108.0	97.0	101.0					8																	56436289		2203	4300	6503	SO:0001583	missense	114786	exon3			GCAGACGCATTTG	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1456G>T	chr8.hg19:g.56436289G>T	ENSP00000328326:p.Ala486Ser	83.0	1.0		195.0	19.0	NM_052898	Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	hg19	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301318	0.40694	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.62639	0.01	5.85	4.97	0.65823	.	0.047732	0.85682	D	0.000000	T	0.61173	0.2326	N	0.16130	0.375	0.58432	D	0.999999	D	0.69078	0.997	D	0.65233	0.933	T	0.59316	-0.7477	10	0.21540	T	0.41	-8.849	14.5127	0.67800	0.0696:0.0:0.9304:0.0	.	486	Q5GH76	XKR4_HUMAN	S	486	ENSP00000328326:A486S	ENSP00000328326:A486S	A	+	1	0	XKR4	56598843	1.000000	0.71417	0.412000	0.26496	0.744000	0.42396	9.869000	0.99810	1.477000	0.48234	0.655000	0.94253	GCA	.	.		0.463	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898	
TEK	7010	hgsc.bcm.edu	37	9	27228299	27228299	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr9:27228299G>A	ENST00000380036.4	+	22	3738	c.3296G>A	c.(3295-3297)cGa>cAa	p.R1099Q	TEK_ENST00000406359.4_Missense_Mutation_p.R1056Q|TEK_ENST00000519097.1_Missense_Mutation_p.R951Q	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1099					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TTAGAGGAGCGAAAGGTAAGT	0.408																																					p.R1099Q		Atlas-SNP	.											.	TEK	250	.	0			c.G3296A						.						88.0	89.0	89.0					9																	27228299		2203	4300	6503	SO:0001583	missense	7010	exon22			AGGAGCGAAAGGT	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3296G>A	chr9.hg19:g.27228299G>A	ENSP00000369375:p.Arg1099Gln	53.0	0.0		52.0	21.0	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	hg19	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	35	5.491223	0.96339	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.69175	-0.38;-0.38;-0.38	5.81	5.81	0.92471	Protein kinase-like domain (1);	0.000000	0.42053	D	0.000766	T	0.72890	0.3517	L	0.27053	0.805	0.58432	D	0.999996	D;D;D	0.89917	0.995;1.0;0.995	P;D;P	0.63703	0.823;0.917;0.823	T	0.74780	-0.3549	10	0.62326	D	0.03	.	19.6728	0.95916	0.0:0.0:1.0:0.0	.	951;1132;1099	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	Q	951;1099;1056	ENSP00000430686:R951Q;ENSP00000369375:R1099Q;ENSP00000383977:R1056Q	ENSP00000369375:R1099Q	R	+	2	0	TEK	27218299	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.794000	0.91867	2.760000	0.94817	0.643000	0.83706	CGA	.	.		0.408	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
FANCC	2176	hgsc.bcm.edu	37	9	97869519	97869519	+	Silent	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr9:97869519C>T	ENST00000289081.3	-	14	1616	c.1362G>A	c.(1360-1362)ctG>ctA	p.L454L	FANCC_ENST00000375305.1_Silent_p.L454L	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	454					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				TGGACATTGCCAGGAGGTGGC	0.557			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.L454L		Atlas-SNP	.	yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""Fanconi anemia, complementation group C"""		L	.	FANCC	53	.	0			c.G1362A						.						113.0	93.0	100.0					9																	97869519		2203	4300	6503	SO:0001819	synonymous_variant	2176	exon14	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	CATTGCCAGGAGG	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1362G>A	chr9.hg19:g.97869519C>T		74.0	0.0		62.0	26.0	NM_001243743	B1ALR8	Silent	SNP	ENST00000289081.3	hg19	CCDS35071.1																																																																																			.	.		0.557	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136	
GSN	2934	hgsc.bcm.edu	37	9	124062174	124062174	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr9:124062174G>T	ENST00000373818.4	+	1	104	c.35G>T	c.(34-36)tGc>tTc	p.C12F	GSN_ENST00000412819.1_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000394353.2_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	12					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GCGCTGCTTTGCGCGCTGTCC	0.796																																					p.C12F		Atlas-SNP	.											.	GSN	81	.	0			c.G35T						.						1.0	1.0	1.0					9																	124062174		770	1465	2235	SO:0001583	missense	2934	exon1			TGCTTTGCGCGCT	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.35G>T	chr9.hg19:g.124062174G>T	ENSP00000362924:p.Cys12Phe	47.0	0.0		61.0	29.0	NM_000177	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	hg19	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	9.327	1.059600	0.19987	.	.	ENSG00000148180	ENST00000373818	T	0.14893	2.47	5.63	2.44	0.29823	.	327.001000	0.00166	U	0.000000	T	0.10252	0.0251	N	0.08118	0	0.22684	N	0.998858	B	0.12630	0.006	B	0.15052	0.012	T	0.21042	-1.0257	10	0.32370	T	0.25	-1.0659	5.1963	0.15239	0.0853:0.1347:0.6255:0.1546	.	12	P06396	GELS_HUMAN	F	12	ENSP00000362924:C12F	ENSP00000362924:C12F	C	+	2	0	GSN	123101995	0.016000	0.18221	0.524000	0.27887	0.119000	0.20118	0.902000	0.28459	0.714000	0.32081	0.563000	0.77884	TGC	.	.		0.796	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	
RC3H2	54542	hgsc.bcm.edu	37	9	125659787	125659787	+	Start_Codon_SNP	SNP	A	A	C			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr9:125659787A>C	ENST00000373670.1	-	1	602	c.2T>G	c.(1-3)aTg>aGg	p.M1R	RC3H2_ENST00000373665.2_Start_Codon_SNP_p.M1R|RC3H2_ENST00000423239.2_Start_Codon_SNP_p.M1R|RC3H2_ENST00000335387.5_Start_Codon_SNP_p.M1R|RC3H2_ENST00000471874.2_Start_Codon_SNP_p.M1R|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000357244.2_Start_Codon_SNP_p.M1R			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGCACAGGCATTGTGGAAGC	0.408																																					p.M1R		Atlas-SNP	.											.	RC3H2	150	.	0			c.T2G						.						50.0	47.0	48.0					9																	125659787		1906	4133	6039	SO:0001582	initiator_codon_variant	54542	exon2			ACAGGCATTGTGG	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2T>G	chr9.hg19:g.125659787A>C	ENSP00000362774:p.Met1Arg	79.0	0.0		82.0	24.0	NM_018835	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	hg19	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386269	0.82902	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.97315	0.9122	.	.	.	0.80722	D	1	D;P;D;D	0.89917	0.999;0.86;1.0;0.96	D;P;D;D	0.78314	0.979;0.692;0.991;0.962	D	0.97854	1.0276	9	0.87932	D	0	-13.5977	16.0034	0.80327	1.0:0.0:0.0:0.0	.	1;1;1;1	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	R	1	ENSP00000362774:M1R;ENSP00000349783:M1R;ENSP00000411767:M1R;ENSP00000362769:M1R;ENSP00000335150:M1R	ENSP00000335150:M1R	M	-	2	0	RC3H2	124699608	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	ATG	.	.		0.408	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835	Missense_Mutation
FUT7	2529	hgsc.bcm.edu	37	9	139925311	139925311	+	Silent	SNP	G	G	T	rs201121157		TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr9:139925311G>T	ENST00000314412.6	-	2	1898	c.880C>A	c.(880-882)Cga>Aga	p.R294R	ABCA2_ENST00000265662.5_5'Flank|ABCA2_ENST00000492260.1_5'Flank|C9orf139_ENST00000314330.2_Intron|ABCA2_ENST00000341511.6_5'Flank|ABCA2_ENST00000371605.3_5'Flank	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	294					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|leukocyte migration involved in immune response (GO:0002522)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CGTTGGTATCGGCTCTCATTC	0.602																																					p.R294R		Atlas-SNP	.											.	FUT7	24	.	0			c.C880A						.						50.0	48.0	49.0					9																	139925311		2198	4296	6494	SO:0001819	synonymous_variant	2529	exon2			GGTATCGGCTCTC	X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549		"""Fucosyltransferases"""	4018	protein-coding gene	gene with protein product		602030				8207002, 8182079	Standard	NM_004479		Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.880C>A	chr9.hg19:g.139925311G>T		80.0	0.0		79.0	33.0	NM_004479	B2R7U7|Q6DK54	Silent	SNP	ENST00000314412.6	hg19	CCDS7022.1																																																																																			.	G|0.999;A|0.001		0.602	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055220.1	NM_004479	
ST8SIA6	338596	hgsc.bcm.edu	37	10	17401546	17401546	+	Nonsense_Mutation	SNP	C	C	T	rs193920832		TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr10:17401546C>T	ENST00000377602.4	-	4	418	c.344G>A	c.(343-345)tGg>tAg	p.W115*		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	115					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTGCCGTTTCCATGGACAACT	0.269																																					p.W115X		Atlas-SNP	.											ST8SIA6,NS,adenoma,0,1	ST8SIA6	85	.	0			c.G344A						.						55.0	54.0	54.0					10																	17401546		2202	4298	6500	SO:0001587	stop_gained	338596	exon4			CGTTTCCATGGAC		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.344G>A	chr10.hg19:g.17401546C>T	ENSP00000366827:p.Trp115*	367.0	0.0		381.0	140.0	NM_001004470	B0YJ97|B9EH72|Q5VZH4	Nonsense_Mutation	SNP	ENST00000377602.4	hg19	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272950	0.95429	.	.	ENSG00000148488	ENST00000377602	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.029	14.2478	0.65999	0.0:1.0:0.0:0.0	.	.	.	.	X	115	.	ENSP00000366827:W115X	W	-	2	0	ST8SIA6	17441552	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	4.018000	0.57174	2.753000	0.94483	0.555000	0.69702	TGG	.	.		0.269	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470	
PRKG1	5592	hgsc.bcm.edu	37	10	53227585	53227585	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr10:53227585C>T	ENST00000401604.2	+	3	730	c.536C>T	c.(535-537)gCg>gTg	p.A179V	PRKG1_ENST00000373980.4_Missense_Mutation_p.A194V|PRKG1_ENST00000373985.1_Missense_Mutation_p.A167V			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	179	cGMP-binding, high affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACCCGGACAGCGACCGTCAAG	0.373																																					p.A194V		Atlas-SNP	.											.	PRKG1	167	.	0			c.C581T						.						126.0	117.0	120.0					10																	53227585		2203	4300	6503	SO:0001583	missense	5592	exon3			GGACAGCGACCGT		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.536C>T	chr10.hg19:g.53227585C>T	ENSP00000384200:p.Ala179Val	161.0	0.0		123.0	49.0	NM_006258	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	hg19	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	C	32	5.193151	0.94960	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	5.79	5.79	0.91817	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.065506	0.64402	D	0.000012	D	0.97907	0.9312	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.998	D	0.98753	1.0721	10	0.72032	D	0.01	-7.9069	17.5173	0.87777	0.0:1.0:0.0:0.0	.	179;194;179	B4DT93;Q13976-2;Q13976	.;.;KGP1_HUMAN	V	179;167;194;52	ENSP00000384200:A179V;ENSP00000363097:A167V;ENSP00000363092:A194V;ENSP00000363087:A52V	ENSP00000363087:A52V	A	+	2	0	PRKG1	52897591	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.481000	0.81124	2.727000	0.93392	0.563000	0.77884	GCG	.	.		0.373	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CCDC172	374355	hgsc.bcm.edu	37	10	118100283	118100283	+	Missense_Mutation	SNP	T	T	G			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr10:118100283T>G	ENST00000333254.3	+	4	454	c.203T>G	c.(202-204)cTt>cGt	p.L68R	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	68																	TTCTTACAGCTTTTGAAAGCT	0.308																																					p.L68R		Atlas-SNP	.											.	.	.	.	0			c.T203G						.						43.0	46.0	45.0					10																	118100283		2202	4283	6485	SO:0001583	missense	374355	exon4			TACAGCTTTTGAA	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.203T>G	chr10.hg19:g.118100283T>G	ENSP00000329860:p.Leu68Arg	234.0	0.0		229.0	89.0	NM_198515		Missense_Mutation	SNP	ENST00000333254.3	hg19	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.142367	0.57044	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.95	5.95	0.96441	.	0.275088	0.31010	N	0.008423	T	0.77798	0.4184	M	0.74881	2.28	0.39685	D	0.97095	D	0.76494	0.999	D	0.66497	0.944	T	0.81609	-0.0855	9	0.87932	D	0	-3.0916	14.9826	0.71321	0.0:0.0:0.0:1.0	.	68	P0C7W6	CJ096_HUMAN	R	68	.	ENSP00000329860:L68R	L	+	2	0	C10orf96	118090273	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	3.939000	0.56591	2.276000	0.75962	0.528000	0.53228	CTT	.	.		0.308	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515	
OR52B4	143496	hgsc.bcm.edu	37	11	4389145	4389145	+	Silent	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr11:4389145G>T	ENST00000408920.2	-	1	471	c.381C>A	c.(379-381)gcC>gcA	p.A127A		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	127					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTAGCATATGGCAATATAGT	0.443																																					p.A127A		Atlas-SNP	.											.	OR52B4	56	.	0			c.C381A						.						103.0	102.0	103.0					11																	4389145		2079	4228	6307	SO:0001819	synonymous_variant	143496	exon1			GCATATGGCAATA	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.381C>A	chr11.hg19:g.4389145G>T		176.0	0.0		155.0	57.0	NM_001005161	A6NP68|Q6IFK6	Silent	SNP	ENST00000408920.2	hg19	CCDS41609.1																																																																																			.	.		0.443	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161	
OR56A3	390083	hgsc.bcm.edu	37	11	5968754	5968754	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr11:5968754C>T	ENST00000329564.6	+	1	185	c.178C>T	c.(178-180)Cac>Tac	p.H60Y	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCTCTCTGCACCAGCCCCT	0.612																																					p.H60Y		Atlas-SNP	.											.	OR56A3	81	.	0			c.C178T						.						121.0	121.0	121.0					11																	5968754		2201	4296	6497	SO:0001583	missense	390083	exon1			TCTCTGCACCAGC		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.178C>T	chr11.hg19:g.5968754C>T	ENSP00000331572:p.His60Tyr	110.0	0.0		136.0	42.0	NM_001003443	A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	hg19	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437551	0.62955	.	.	ENSG00000184478	ENST00000329564	T	0.15952	2.38	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.33294	0.0858	M	0.93106	3.38	0.42313	D	0.992222	B	0.31859	0.343	B	0.33620	0.167	T	0.39461	-0.9613	10	0.87932	D	0	-16.0956	14.0107	0.64495	0.0:1.0:0.0:0.0	.	60	Q8NH54	O56A3_HUMAN	Y	60	ENSP00000331572:H60Y	ENSP00000331572:H60Y	H	+	1	0	OR56A3	5925330	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	6.697000	0.74603	2.683000	0.91414	0.644000	0.83932	CAC	.	.		0.612	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443	
OR8H1	219469	hgsc.bcm.edu	37	11	56058116	56058116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr11:56058116G>T	ENST00000313022.2	-	1	450	c.423C>A	c.(421-423)tgC>tgA	p.C141*		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TGACAAGAGCGCAACACAGCC	0.448																																					p.C141X		Atlas-SNP	.											.	OR8H1	89	.	0			c.C423A						.						88.0	84.0	85.0					11																	56058116		2201	4296	6497	SO:0001587	stop_gained	219469	exon1			AAGAGCGCAACAC	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.423C>A	chr11.hg19:g.56058116G>T	ENSP00000323595:p.Cys141*	125.0	0.0		129.0	53.0	NM_001005199	B2RNI7|Q6IFC5	Nonsense_Mutation	SNP	ENST00000313022.2	hg19	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	G	9.125	1.010073	0.19277	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	.	.	.	3.82	-7.64	0.01286	.	1.117080	0.06604	N	0.754428	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	2.2253	0.03982	0.4301:0.2063:0.2595:0.1041	.	.	.	.	X	141;137	.	ENSP00000323595:C141X	C	-	3	2	OR8H1	55814692	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.597000	0.00111	-1.403000	0.02053	-0.410000	0.06199	TGC	.	.		0.448	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199	
OSBP	5007	hgsc.bcm.edu	37	11	59361132	59361132	+	Missense_Mutation	SNP	C	C	G			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr11:59361132C>G	ENST00000263847.1	-	9	2102	c.1623G>C	c.(1621-1623)caG>caC	p.Q541H	MIR3162_ENST00000581818.1_RNA	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	541					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TTTTGATTTCCTGACGCAATG	0.458																																					p.Q541H		Atlas-SNP	.											.	OSBP	57	.	0			c.G1623C						.						146.0	127.0	133.0					11																	59361132		2201	4295	6496	SO:0001583	missense	5007	exon9			GATTTCCTGACGC	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1623G>C	chr11.hg19:g.59361132C>G	ENSP00000263847:p.Gln541His	104.0	0.0		88.0	7.0	NM_002556	Q6P524	Missense_Mutation	SNP	ENST00000263847.1	hg19	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391314	0.83011	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	T	0.30714	1.52	6.06	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67421	-0.5675	10	0.72032	D	0.01	-25.3475	14.5961	0.68407	0.0:0.9289:0.0:0.0711	.	541	P22059	OSBP1_HUMAN	H	541;141	ENSP00000263847:Q541H	ENSP00000263847:Q541H	Q	-	3	2	OSBP	59117708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.105000	0.41825	1.575000	0.49775	0.655000	0.94253	CAG	.	.		0.458	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1		
STARD10	10809	hgsc.bcm.edu	37	11	72470359	72470359	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr11:72470359C>A	ENST00000334805.6	-	3	1194	c.275G>T	c.(274-276)cGc>cTc	p.R92L	STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000538536.1_Missense_Mutation_p.R46L|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000545082.1_Missense_Mutation_p.R63L|STARD10_ENST00000543304.1_Missense_Mutation_p.R92L	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	92	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid secretion (GO:0032782)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)	cytosol (GO:0005829)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|microvillus (GO:0005902)	lipid binding (GO:0008289)			endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			CCATTTCTTGCGGTACTCAAT	0.527																																					p.R92L		Atlas-SNP	.											.	STARD10	25	.	0			c.G275T						.						150.0	155.0	153.0					11																	72470359		2182	4270	6452	SO:0001583	missense	10809	exon3			TTCTTGCGGTACT	AF039696	CCDS41688.1	11q13	2011-09-12	2007-08-16	2003-02-07		ENSG00000214530		"""StAR-related lipid transfer (START) domain containing"""	10666	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 28"", ""START domain containing 10"""	SDCCAG28		9610721	Standard	NM_006645		Approved	NY-CO-28, CGI-52, PCTP2	uc001otb.3	Q9Y365		ENST00000334805.6:c.275G>T	chr11.hg19:g.72470359C>A	ENSP00000335247:p.Arg92Leu	174.0	0.0		153.0	64.0	NM_006645	O60532	Missense_Mutation	SNP	ENST00000334805.6	hg19	CCDS41688.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313575	0.95655	.	.	ENSG00000214530	ENST00000543304;ENST00000334805;ENST00000538536;ENST00000545082;ENST00000544767;ENST00000537947;ENST00000536728;ENST00000542989;ENST00000546314;ENST00000539138;ENST00000535054	T;T;T;T;T;T;T;T;T;D;T	0.86230	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;-2.09;0.65	5.61	4.69	0.59074	Lipid-binding START (3);START-like domain (1);	0.158692	0.41396	U	0.000894	D	0.93828	0.8026	M	0.92970	3.365	0.45607	D	0.998549	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.993	D	0.93907	0.7193	10	0.87932	D	0	-8.17	8.4866	0.33076	0.0:0.7626:0.1535:0.0839	.	46;92	F5GY11;Q9Y365	.;PCTL_HUMAN	L	92;92;46;63;23;92;23;92;92;63;46	ENSP00000438792:R92L;ENSP00000335247:R92L;ENSP00000440016:R46L;ENSP00000443548:R63L;ENSP00000438357:R23L;ENSP00000445657:R92L;ENSP00000442414:R23L;ENSP00000443597:R92L;ENSP00000445886:R92L;ENSP00000441589:R63L;ENSP00000440924:R46L	ENSP00000335247:R92L	R	-	2	0	STARD10	72148007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.653000	0.90120	0.655000	0.94253	CGC	.	.		0.527	STARD10-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397254.1		
FAT3	120114	hgsc.bcm.edu	37	11	92616466	92616466	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr11:92616466G>A	ENST00000298047.6	+	23	12861	c.12844G>A	c.(12844-12846)Gtg>Atg	p.V4282M	FAT3_ENST00000525166.1_Missense_Mutation_p.V4132M|FAT3_ENST00000409404.2_Missense_Mutation_p.V4282M|FAT3_ENST00000533797.1_Missense_Mutation_p.V617M|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4282					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGCGTGGTCGTGTGCAGTGT	0.657										TCGA Ovarian(4;0.039)																											p.V4282M		Atlas-SNP	.											.	FAT3	1822	.	0			c.G12844A						.						31.0	38.0	36.0					11																	92616466		2098	4197	6295	SO:0001583	missense	120114	exon23			GTGGTCGTGTGCA	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12844G>A	chr11.hg19:g.92616466G>A	ENSP00000298047:p.Val4282Met	92.0	0.0		72.0	14.0	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	hg19		.	.	.	.	.	.	.	.	.	.	G	33	5.201275	0.94997	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.90261	-1.04;-1.32;-1.05;-2.64	5.85	5.85	0.93711	.	.	.	.	.	D	0.95736	0.8613	M	0.81497	2.545	0.80722	D	1	D;B	0.89917	1.0;0.382	D;B	0.91635	0.999;0.019	D	0.95204	0.8319	9	0.56958	D	0.05	.	20.161	0.98133	0.0:0.0:1.0:0.0	.	4282;4282	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	M	4282;4282;4132;617	ENSP00000298047:V4282M;ENSP00000387040:V4282M;ENSP00000432586:V4132M;ENSP00000436399:V617M	ENSP00000298047:V4282M	V	+	1	0	FAT3	92256114	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	9.746000	0.98859	2.770000	0.95276	0.655000	0.94253	GTG	.	.		0.657	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
KIAA1377	57562	hgsc.bcm.edu	37	11	101833467	101833467	+	Silent	SNP	T	T	C			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr11:101833467T>C	ENST00000263468.8	+	6	1971	c.1701T>C	c.(1699-1701)caT>caC	p.H567H	KIAA1377_ENST00000537689.1_Silent_p.H368H	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	567										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ACAACATCCATGAGAGAAATG	0.279																																					p.H567H		Atlas-SNP	.											.	KIAA1377	111	.	0			c.T1701C						.						36.0	40.0	39.0					11																	101833467		2189	4276	6465	SO:0001819	synonymous_variant	57562	exon6			CATCCATGAGAGA	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1701T>C	chr11.hg19:g.101833467T>C		302.0	0.0		275.0	24.0	NM_020802	Q4G0U6	Silent	SNP	ENST00000263468.8	hg19	CCDS31658.1																																																																																			.	.		0.279	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802	
ACAT1	38	hgsc.bcm.edu	37	11	108018101	108018101	+	Missense_Mutation	SNP	T	T	G			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr11:108018101T>G	ENST00000265838.4	+	12	1359	c.1268T>G	c.(1267-1269)cTa>cGa	p.L423R		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	423					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TCTGCCATGCTAATTCAGAAG	0.468																																					p.L423R		Atlas-SNP	.											.	ACAT1	35	.	0			c.T1268G						.						138.0	123.0	128.0					11																	108018101		2201	4298	6499	SO:0001583	missense	38	exon12			CCATGCTAATTCA	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1268T>G	chr11.hg19:g.108018101T>G	ENSP00000265838:p.Leu423Arg	59.0	0.0		63.0	24.0	NM_000019	B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	hg19	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.612583	0.87258	.	.	ENSG00000075239	ENST00000265838	D	0.93547	-3.24	5.87	5.87	0.94306	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.146323	0.47455	D	0.000236	D	0.97021	0.9027	M	0.89214	3.015	0.80722	D	1	D	0.69078	0.997	D	0.68039	0.955	D	0.97707	1.0188	10	0.87932	D	0	-5.2666	16.2806	0.82678	0.0:0.0:0.0:1.0	.	423	P24752	THIL_HUMAN	R	423	ENSP00000265838:L423R	ENSP00000265838:L423R	L	+	2	0	ACAT1	107523311	1.000000	0.71417	0.739000	0.30968	0.895000	0.52256	7.753000	0.85153	2.248000	0.74166	0.533000	0.62120	CTA	.	.		0.468	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019	
Unknown	0	hgsc.bcm.edu	37	11	124096063	124096063	+	IGR	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr11:124096063G>A								OR10D3 (39111 upstream) : OR8G1 (24359 downstream)																							ACATCCTGACGCCTGCCTTAA	0.483																																					p.T222T		Atlas-SNP	.											.	.	.	.	0			c.G666A						.						140.0	148.0	145.0					11																	124096063		2126	4262	6388	SO:0001628	intergenic_variant	26492	exon1			CCTGACGCCTGCC																													chr11.hg19:g.124096063G>A		122.0	0.0		121.0	46.0	NM_001007249		Silent	SNP		hg19																																																																																				.	.	0	0.483								
CDKN1B	1027	hgsc.bcm.edu	37	12	12871119	12871119	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr12:12871119G>T	ENST00000228872.4	+	1	1062	c.346G>T	c.(346-348)Gcg>Tcg	p.A116S	CDKN1B_ENST00000396340.1_Missense_Mutation_p.A116S|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	116					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CCGCCCGGCGGCGCCTTTAAT	0.652																																					p.A116S		Atlas-SNP	.											.	CDKN1B	48	.	0			c.G346T						.						20.0	27.0	25.0					12																	12871119		2201	4296	6497	SO:0001583	missense	1027	exon1			CCGGCGGCGCCTT	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.346G>T	chr12.hg19:g.12871119G>T	ENSP00000228872:p.Ala116Ser	1050.0	2.0		973.0	365.0	NM_004064	Q16307|Q5U0H2|Q9BUS6	Missense_Mutation	SNP	ENST00000228872.4	hg19	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934669	0.34189	.	.	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000396340	T;T	0.59364	0.27;0.27	5.51	4.6	0.57074	.	0.857520	0.10244	N	0.698043	T	0.40297	0.1111	N	0.14661	0.345	0.20489	N	0.999896	B	0.13145	0.007	B	0.09377	0.004	T	0.09751	-1.0660	10	0.09084	T	0.74	-22.8831	14.2207	0.65826	0.0:0.1492:0.8507:0.0	.	116	P46527	CDN1B_HUMAN	S	116;65;116	ENSP00000228872:A116S;ENSP00000379629:A116S	ENSP00000228872:A116S	A	+	1	0	CDKN1B	12762386	0.439000	0.25610	0.943000	0.38184	0.831000	0.47069	1.249000	0.32839	1.290000	0.44636	0.650000	0.86243	GCG	.	.		0.652	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064	
MON2	23041	hgsc.bcm.edu	37	12	62946910	62946910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr12:62946910G>T	ENST00000393632.2	+	24	3557	c.3166G>T	c.(3166-3168)Gga>Tga	p.G1056*	MON2_ENST00000393630.3_Nonsense_Mutation_p.G1057*|MON2_ENST00000393629.2_Nonsense_Mutation_p.G1056*|MON2_ENST00000280379.6_Nonsense_Mutation_p.G1057*|MON2_ENST00000552738.1_Nonsense_Mutation_p.G1033*|MON2_ENST00000546600.1_Nonsense_Mutation_p.G1056*|MON2_ENST00000552115.1_Nonsense_Mutation_p.G1056*	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1056					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TGGTGCGCATGGAACTTTATT	0.393																																					p.G1056X		Atlas-SNP	.											.	MON2	160	.	0			c.G3166T						.						218.0	210.0	213.0					12																	62946910		2203	4300	6503	SO:0001587	stop_gained	23041	exon24			GCGCATGGAACTT		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3166G>T	chr12.hg19:g.62946910G>T	ENSP00000377252:p.Gly1056*	174.0	0.0		179.0	59.0	NM_015026	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Nonsense_Mutation	SNP	ENST00000393632.2	hg19	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	39	7.821282	0.98507	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.6111	17.9971	0.89187	0.0:0.0:1.0:0.0	.	.	.	.	X	1056;1057;1057;1056;1033;1056;1056	.	.	G	+	1	0	MON2	61233177	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	9.420000	0.97426	2.322000	0.78497	0.650000	0.86243	GGA	.	.		0.393	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
CPSF6	11052	hgsc.bcm.edu	37	12	69652698	69652698	+	Silent	SNP	G	G	T	rs559355987		TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr12:69652698G>T	ENST00000435070.2	+	6	1133	c.1023G>T	c.(1021-1023)ccG>ccT	p.P341P	CPSF6_ENST00000456847.3_Silent_p.P268P|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Silent_p.P378P	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	341	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P341P(2)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CTCCTCCTCCGCATCTTCCTG	0.612																																					p.P341P		Atlas-SNP	.											CPSF6_ENST00000435070,caecum,carcinoma,0,2	CPSF6	96	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1023T						.						127.0	123.0	124.0					12																	69652698		2203	4300	6503	SO:0001819	synonymous_variant	11052	exon6			TCCTCCGCATCTT	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1023G>T	chr12.hg19:g.69652698G>T		87.0	0.0		76.0	33.0	NM_007007	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Silent	SNP	ENST00000435070.2	hg19	CCDS8988.1																																																																																			.	.		0.612	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007	
DHX37	57647	hgsc.bcm.edu	37	12	125434543	125434543	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr12:125434543C>A	ENST00000308736.2	-	25	3377	c.3279G>T	c.(3277-3279)aaG>aaT	p.K1093N	DHX37_ENST00000544745.1_Missense_Mutation_p.K880N	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1093							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGGCCCACGTCTTCAGCATGG	0.662																																					p.K1093N		Atlas-SNP	.											.	DHX37	114	.	0			c.G3279T						.						33.0	30.0	31.0					12																	125434543		2202	4300	6502	SO:0001583	missense	57647	exon25			CCACGTCTTCAGC	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3279G>T	chr12.hg19:g.125434543C>A	ENSP00000311135:p.Lys1093Asn	133.0	0.0		91.0	28.0	NM_032656	Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	hg19	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839171	0.71373	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03580	3.95;3.88	5.64	4.66	0.58398	.	0.096235	0.64402	D	0.000001	T	0.19846	0.0477	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00548	-1.1677	10	0.87932	D	0	-43.9874	10.9941	0.47565	0.0:0.7891:0.0:0.2109	.	880;1093	F5H3Y4;Q8IY37	.;DHX37_HUMAN	N	1093;880	ENSP00000311135:K1093N;ENSP00000439009:K880N	ENSP00000311135:K1093N	K	-	3	2	DHX37	124000496	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	1.165000	0.31822	1.225000	0.43566	0.555000	0.69702	AAG	.	.		0.662	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656	
PRTG	283659	hgsc.bcm.edu	37	15	55965587	55965587	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr15:55965587T>C	ENST00000389286.4	-	10	1881	c.1834A>G	c.(1834-1836)Aaa>Gaa	p.K612E		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CTTGTAGCTTTGGGCGTCCTA	0.408																																					p.K612E		Atlas-SNP	.											.	PRTG	110	.	0			c.A1834G						.						59.0	57.0	58.0					15																	55965587		1863	4104	5967	SO:0001583	missense	283659	exon10			TAGCTTTGGGCGT	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1834A>G	chr15.hg19:g.55965587T>C	ENSP00000373937:p.Lys612Glu	104.0	0.0		100.0	17.0	NM_173814		Missense_Mutation	SNP	ENST00000389286.4	hg19	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333334	0.60853	.	.	ENSG00000166450	ENST00000389286	T	0.50813	0.73	4.67	4.67	0.58626	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.50120	0.1597	L	0.31207	0.915	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.44528	-0.9322	10	0.02654	T	1	-19.1474	13.6104	0.62074	0.0:0.0:0.0:1.0	.	612	Q2VWP7	PRTG_HUMAN	E	612	ENSP00000373937:K612E	ENSP00000373937:K612E	K	-	1	0	PRTG	53752879	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	7.707000	0.84623	1.871000	0.54225	0.528000	0.53228	AAA	.	.		0.408	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814	
IGDCC3	9543	hgsc.bcm.edu	37	15	65624285	65624285	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr15:65624285T>C	ENST00000327987.4	-	7	1393	c.1142A>G	c.(1141-1143)aAc>aGc	p.N381S	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	381	Ig-like C2-type 4.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATACCTGTTGTTATTCTTGAG	0.602																																					p.N381S		Atlas-SNP	.											.	IGDCC3	82	.	0			c.A1142G						.						100.0	89.0	93.0					15																	65624285		2201	4299	6500	SO:0001583	missense	9543	exon7			CTGTTGTTATTCT	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1142A>G	chr15.hg19:g.65624285T>C	ENSP00000332773:p.Asn381Ser	26.0	0.0		15.0	7.0	NM_004884	O95215	Missense_Mutation	SNP	ENST00000327987.4	hg19	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	T	9.712	1.157428	0.21454	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.37915	1.17	4.53	3.4	0.38934	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.049418	0.85682	D	0.000000	T	0.33789	0.0875	L	0.39326	1.205	0.51482	D	0.999928	B	0.30361	0.277	B	0.41510	0.359	T	0.10291	-1.0636	10	0.25106	T	0.35	-15.1154	9.66	0.39950	0.0:0.0831:0.0:0.9169	.	381	Q8IVU1	IGDC3_HUMAN	S	381;244	ENSP00000332773:N381S	ENSP00000332773:N381S	N	-	2	0	IGDCC3	63411338	1.000000	0.71417	0.998000	0.56505	0.246000	0.25737	5.115000	0.64655	1.790000	0.52503	0.533000	0.62120	AAC	.	.		0.602	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884	
CSPG4	1464	hgsc.bcm.edu	37	15	75981258	75981258	+	Silent	SNP	C	C	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr15:75981258C>A	ENST00000308508.5	-	3	2240	c.2148G>T	c.(2146-2148)ggG>ggT	p.G716G		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	716	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.			QGA -> HST (in Ref. 1; CAA65529). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCCCACCTGCCCCCTGCTTCT	0.672																																					p.G716G		Atlas-SNP	.											.	CSPG4	175	.	0			c.G2148T						.						51.0	52.0	52.0					15																	75981258		2197	4292	6489	SO:0001819	synonymous_variant	1464	exon3			ACCTGCCCCCTGC	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2148G>T	chr15.hg19:g.75981258C>A		60.0	0.0		58.0	6.0	NM_001897	D3DW77|Q92675	Silent	SNP	ENST00000308508.5	hg19	CCDS10284.1																																																																																			.	.		0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897	
AXIN1	8312	hgsc.bcm.edu	37	16	347107	347107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr16:347107C>T	ENST00000262320.3	-	7	2275	c.1904G>A	c.(1903-1905)tGg>tAg	p.W635*	AXIN1_ENST00000354866.3_Nonsense_Mutation_p.W635*|AXIN1_ENST00000481769.1_5'Flank	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	635	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTCAATGATCCACTGCATGAT	0.622																																					p.W635X		Atlas-SNP	.											.	AXIN1	290	.	0			c.G1904A						.						231.0	210.0	217.0					16																	347107		2203	4300	6503	SO:0001587	stop_gained	8312	exon7			ATGATCCACTGCA	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1904G>A	chr16.hg19:g.347107C>T	ENSP00000262320:p.Trp635*	36.0	0.0		18.0	9.0	NM_181050	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Nonsense_Mutation	SNP	ENST00000262320.3	hg19	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	42	9.594752	0.99214	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.3868	18.2287	0.89927	0.0:1.0:0.0:0.0	.	.	.	.	X	635	.	ENSP00000262320:W635X	W	-	2	0	AXIN1	287108	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.153000	0.77428	2.317000	0.78254	0.478000	0.44815	TGG	.	.		0.622	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3		
TSC2	7249	hgsc.bcm.edu	37	16	2108810	2108810	+	Nonsense_Mutation	SNP	G	G	A	rs397515106|rs137854012|rs45517140		TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr16:2108810G>A	ENST00000219476.3	+	10	1541	c.911G>A	c.(910-912)tGg>tAg	p.W304*	TSC2_ENST00000350773.4_Nonsense_Mutation_p.W304*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.W315*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.W255*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.W267*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.W304*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.W304*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	304	Required for interaction with TSC1.		W -> WGMALW (in TSC2).		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ATGGCTCTCTGGGGAGCCCAC	0.562			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.W304X		Atlas-SNP	.	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	.	TSC2	364	.	0			c.G911A	GRCh37	CM090987	TSC2	M	rs45517140	.						64.0	56.0	59.0					16																	2108810		2195	4297	6492	SO:0001587	stop_gained	7249	exon10	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	CTCTCTGGGGAGC	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.911G>A	chr16.hg19:g.2108810G>A	ENSP00000219476:p.Trp304*	44.0	0.0		31.0	13.0	NM_001114382	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Nonsense_Mutation	SNP	ENST00000219476.3	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	38	7.067979	0.98040	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1893	18.9169	0.92508	0.0:0.0:1.0:0.0	rs45517140	.	.	.	X	304;304;304;267;255;304	.	ENSP00000219476:W304X	W	+	2	0	TSC2	2048811	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.406000	0.97321	2.541000	0.85698	0.655000	0.94253	TGG	.	.		0.562	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	
ZP2	7783	hgsc.bcm.edu	37	16	21212847	21212847	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr16:21212847C>A	ENST00000574002.1	-	15	2019	c.1537G>T	c.(1537-1539)Gag>Tag	p.E513*	ZP2_ENST00000574091.1_Nonsense_Mutation_p.E504*|ZP2_ENST00000219593.4_Nonsense_Mutation_p.E513*|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	513	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGAGGGTACTCGTTTTCCCCA	0.433																																					p.E513X		Atlas-SNP	.											.	ZP2	92	.	0			c.G1537T						.						195.0	179.0	185.0					16																	21212847		2200	4300	6500	SO:0001587	stop_gained	7783	exon14			GGTACTCGTTTTC	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1537G>T	chr16.hg19:g.21212847C>A	ENSP00000460971:p.Glu513*	199.0	0.0		127.0	66.0	NM_003460	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Nonsense_Mutation	SNP	ENST00000574002.1	hg19	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316130	0.60524	.	.	ENSG00000103310	ENST00000219593	.	.	.	5.1	4.06	0.47325	.	0.171032	0.40469	N	0.001088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-16.3183	11.9133	0.52751	0.0:0.628:0.372:0.0	.	.	.	.	X	513	.	ENSP00000219593:E513X	E	-	1	0	ZP2	21120348	0.997000	0.39634	0.170000	0.22879	0.124000	0.20399	3.431000	0.52814	2.530000	0.85305	0.591000	0.81541	GAG	.	.		0.433	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2		
SETD6	79918	hgsc.bcm.edu	37	16	58552349	58552349	+	Missense_Mutation	SNP	G	G	T	rs11865588	byFrequency	TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr16:58552349G>T	ENST00000219315.4	+	7	1068	c.1018G>T	c.(1018-1020)Gat>Tat	p.D340Y	SETD6_ENST00000310682.2_Missense_Mutation_p.D316Y|SETD6_ENST00000394266.4_Missense_Mutation_p.D271Y|SETD6_ENST00000418480.1_3'UTR			Q8TBK2	SETD6_HUMAN	SET domain containing 6	340			D -> N (in dbSNP:rs11865588).		negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CGAGCGCTGGGATTTCCTATG	0.488																																					p.D340Y		Atlas-SNP	.											.	SETD6	27	.	0			c.G1018T						.						119.0	115.0	116.0					16																	58552349		2198	4300	6498	SO:0001583	missense	79918	exon7			CGCTGGGATTTCC	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.1018G>T	chr16.hg19:g.58552349G>T	ENSP00000219315:p.Asp340Tyr	174.0	0.0		93.0	52.0	NM_001160305	A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	hg19	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894081	0.52121	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315;ENST00000447443	T;T;T;T	0.23950	2.18;2.18;2.18;1.88	5.73	2.77	0.32553	Rubisco LS methyltransferase, substrate-binding domain (2);	0.156119	0.56097	D	0.000029	T	0.44623	0.1302	M	0.67953	2.075	0.53688	D	0.999979	D;D	0.69078	0.997;0.997	D;P	0.68943	0.961;0.837	T	0.32052	-0.9921	10	0.72032	D	0.01	-2.4539	10.4577	0.44561	0.209:0.0:0.791:0.0	.	340;316	Q8TBK2;Q8TBK2-2	SETD6_HUMAN;.	Y	316;271;340;102	ENSP00000310082:D316Y;ENSP00000377809:D271Y;ENSP00000219315:D340Y;ENSP00000396437:D102Y	ENSP00000219315:D340Y	D	+	1	0	SETD6	57109850	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	3.090000	0.50191	0.372000	0.24591	-0.742000	0.03525	GAT	.	G|0.995;A|0.005		0.488	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860	
PDPR	55066	hgsc.bcm.edu	37	16	70176519	70176519	+	Missense_Mutation	SNP	C	C	G			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr16:70176519C>G	ENST00000288050.4	+	13	2492	c.1535C>G	c.(1534-1536)tCt>tGt	p.S512C	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000568530.1_Missense_Mutation_p.S512C|PDPR_ENST00000398122.3_Missense_Mutation_p.S412C	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	512					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ATCGTGGAGTCTGAAGTCAAG	0.418																																					p.S512C		Atlas-SNP	.											.	PDPR	66	.	0			c.C1535G						.						80.0	88.0	85.0					16																	70176519		1903	4132	6035	SO:0001583	missense	55066	exon13			TGGAGTCTGAAGT		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1535C>G	chr16.hg19:g.70176519C>G	ENSP00000288050:p.Ser512Cys	94.0	0.0		49.0	30.0	NM_017990	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	hg19	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252198	0.80135	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	D;D	0.83837	-1.77;-1.77	4.99	4.99	0.66335	.	0.166576	0.53938	D	0.000047	D	0.85062	0.5611	L	0.47190	1.495	0.80722	D	1	D;P	0.63880	0.993;0.863	P;B	0.52856	0.711;0.353	D	0.86783	0.1980	10	0.66056	D	0.02	.	17.6204	0.88079	0.0:1.0:0.0:0.0	.	240;512	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	C	512;412;240	ENSP00000288050:S512C;ENSP00000381190:S412C	ENSP00000205055:S240C	S	+	2	0	PDPR	68734020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.770000	0.68873	2.478000	0.83669	0.555000	0.69702	TCT	.	.		0.418	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990	
ADAT1	23536	hgsc.bcm.edu	37	16	75654670	75654670	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr16:75654670G>T	ENST00000307921.3	-	3	173	c.28C>A	c.(28-30)Cta>Ata	p.L10I		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	10					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						TCATAGCATAGCTGAGCAATC	0.502																																					p.L10I		Atlas-SNP	.											.	ADAT1	45	.	0			c.C28A						.						93.0	86.0	88.0					16																	75654670		2198	4300	6498	SO:0001583	missense	23536	exon3			AGCATAGCTGAGC	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.28C>A	chr16.hg19:g.75654670G>T	ENSP00000310015:p.Leu10Ile	54.0	0.0		34.0	21.0	NM_012091	Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	hg19	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710275	0.48517	.	.	ENSG00000065457	ENST00000307921	T	0.17213	2.29	5.5	4.55	0.56014	Adenosine deaminase/editase (1);	0.000000	0.53938	D	0.000050	T	0.36220	0.0959	M	0.67953	2.075	0.51767	D	0.999938	D	0.89917	1.0	D	0.91635	0.999	T	0.06285	-1.0835	10	0.44086	T	0.13	-10.2188	9.2865	0.37760	0.1639:0.0:0.8361:0.0	.	10	Q9BUB4	ADAT1_HUMAN	I	10	ENSP00000310015:L10I	ENSP00000310015:L10I	L	-	1	2	ADAT1	74212171	0.853000	0.29707	0.181000	0.23098	0.198000	0.23893	1.270000	0.33086	1.342000	0.45619	0.491000	0.48974	CTA	.	.		0.502	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091	
CCT6B	10693	hgsc.bcm.edu	37	17	33281459	33281459	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr17:33281459C>T	ENST00000314144.5	-	4	611	c.496G>A	c.(496-498)Gat>Aat	p.D166N	CCT6B_ENST00000421975.3_Missense_Mutation_p.D166N|CCT6B_ENST00000436961.3_Missense_Mutation_p.D121N	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	166					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GTTAAGACATCAGCCAGTTCA	0.313																																					p.D166N		Atlas-SNP	.											.	CCT6B	63	.	0			c.G496A						.						141.0	125.0	131.0					17																	33281459		2202	4299	6501	SO:0001583	missense	10693	exon4			AGACATCAGCCAG	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.496G>A	chr17.hg19:g.33281459C>T	ENSP00000327191:p.Asp166Asn	104.0	0.0		86.0	30.0	NM_006584	B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	hg19	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854491	0.32791	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.79653	-1.29;-1.29;-1.29	5.15	3.16	0.36331	.	0.085387	0.85682	N	0.000000	T	0.76877	0.4049	M	0.64676	1.99	0.58432	D	0.999999	B;B;B	0.20550	0.046;0.044;0.022	B;B;B	0.28991	0.097;0.072;0.047	T	0.72947	-0.4137	10	0.52906	T	0.07	-8.033	8.4249	0.32723	0.154:0.7642:0.0:0.0818	.	121;166;166	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	N	166;166;121	ENSP00000398044:D166N;ENSP00000327191:D166N;ENSP00000400917:D121N	ENSP00000327191:D166N	D	-	1	0	CCT6B	30305572	1.000000	0.71417	0.996000	0.52242	0.488000	0.33401	3.506000	0.53364	0.871000	0.35750	0.650000	0.86243	GAT	.	.		0.313	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584	
KRT13	3860	hgsc.bcm.edu	37	17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr17:39659673G>A	ENST00000246635.3	-	3	647	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KRT13_ENST00000336861.3_Missense_Mutation_p.R201C|KRT13_ENST00000587544.1_Missense_Mutation_p.R201C|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483																																					p.R201C		Atlas-SNP	.											.	KRT13	72	.	0			c.C601T						.						62.0	62.0	62.0					17																	39659673		2203	4300	6503	SO:0001583	missense	3860	exon3			TCTGGCGCAGGGC		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.601C>T	chr17.hg19:g.39659673G>A	ENSP00000246635:p.Arg201Cys	87.0	0.0		65.0	25.0	NM_002274	Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	hg19	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669876	0.88348	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.91792	-2.91;-2.91	4.4	4.4	0.53042	Filament (1);	0.000000	0.46145	D	0.000309	D	0.93986	0.8074	M	0.82132	2.575	0.80722	D	1	P;P;P;P	0.49559	0.925;0.896;0.873;0.896	P;P;B;P	0.49192	0.602;0.478;0.346;0.478	D	0.94975	0.8120	10	0.66056	D	0.02	.	17.5315	0.87816	0.0:0.0:1.0:0.0	.	189;201;201;201	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	C	201;201;189	ENSP00000246635:R201C;ENSP00000336604:R201C	ENSP00000157775:R189C	R	-	1	0	KRT13	36913199	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.441000	0.66569	2.444000	0.82710	0.561000	0.74099	CGC	.	.		0.483	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490	
RSAD1	55316	hgsc.bcm.edu	37	17	48561893	48561893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr17:48561893C>T	ENST00000258955.2	+	8	1283	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	400					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGGCCTACTGCAGCTGGATCA	0.627																																					p.Q400X		Atlas-SNP	.											.	RSAD1	36	.	0			c.C1198T						.						45.0	47.0	46.0					17																	48561893		2203	4300	6503	SO:0001587	stop_gained	55316	exon8			CTACTGCAGCTGG	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.1198C>T	chr17.hg19:g.48561893C>T	ENSP00000258955:p.Gln400*	30.0	0.0		44.0	18.0	NM_018346	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Nonsense_Mutation	SNP	ENST00000258955.2	hg19	CCDS11569.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698350	0.88830	.	.	ENSG00000136444	ENST00000258955	.	.	.	5.76	4.74	0.60224	.	0.239366	0.37437	N	0.002087	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-10.2354	8.6469	0.34011	0.243:0.6175:0.1395:0.0	.	.	.	.	X	400	.	ENSP00000258955:Q400X	Q	+	1	0	RSAD1	45916892	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	1.053000	0.30442	2.709000	0.92574	0.655000	0.94253	CAG	.	.		0.627	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346	
APPBP2	10513	hgsc.bcm.edu	37	17	58533692	58533692	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr17:58533692T>C	ENST00000083182.3	-	10	1399	c.1112A>G	c.(1111-1113)gAt>gGt	p.D371G		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	371					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			AAGAAGATGATCTTCAGGTAG	0.328																																					p.D371G		Atlas-SNP	.											.	APPBP2	48	.	0			c.A1112G						.						120.0	111.0	114.0					17																	58533692		2203	4297	6500	SO:0001583	missense	10513	exon10			AGATGATCTTCAG	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1112A>G	chr17.hg19:g.58533692T>C	ENSP00000083182:p.Asp371Gly	103.0	0.0		107.0	47.0	NM_006380	A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	hg19	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379225	0.61735	.	.	ENSG00000062725	ENST00000083182	D	0.85013	-1.93	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);	0.044306	0.85682	D	0.000000	D	0.87943	0.6305	L	0.39898	1.24	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	D	0.88812	0.3292	10	0.59425	D	0.04	-18.3692	15.4629	0.75373	0.0:0.0:0.0:1.0	.	371	Q92624	APBP2_HUMAN	G	371	ENSP00000083182:D371G	ENSP00000083182:D371G	D	-	2	0	APPBP2	55888474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.302000	0.78861	2.049000	0.60858	0.477000	0.44152	GAT	.	.		0.328	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380	
TRIM65	201292	hgsc.bcm.edu	37	17	73888160	73888160	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr17:73888160C>T	ENST00000269383.3	-	4	916	c.851G>A	c.(850-852)tGt>tAt	p.C284Y		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	284						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGGAGGCCACACAGCCGGCT	0.652																																					p.C284Y		Atlas-SNP	.											.	TRIM65	23	.	0			c.G851A						.						17.0	18.0	18.0					17																	73888160		2120	4131	6251	SO:0001583	missense	201292	exon4			AGGCCACACAGCC	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.851G>A	chr17.hg19:g.73888160C>T	ENSP00000269383:p.Cys284Tyr	110.0	0.0		102.0	38.0	NM_001256124	Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	ENST00000269383.3	hg19	CCDS11732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.948|8.948	0.967543|0.967543	0.18659|0.18659	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000269383|ENST00000543309	T|.	0.56941|.	0.43|.	3.89|3.89	0.707|0.707	0.18139|0.18139	.|.	0.706641|.	0.12949|.	N|.	0.425964|.	T|T	0.20901|0.20901	0.0503|0.0503	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.17852|.	0.024|.	B|.	0.12837|.	0.008|.	T|T	0.22382|0.22382	-1.0218|-1.0218	10|5	0.02654|.	T|.	1|.	.|.	3.2377|3.2377	0.06770|0.06770	0.0:0.4709:0.2109:0.3182|0.0:0.4709:0.2109:0.3182	.|.	284|.	Q6PJ69|.	TRI65_HUMAN|.	Y|M	284|158	ENSP00000269383:C284Y|.	ENSP00000269383:C284Y|.	C|V	-|-	2|1	0|0	TRIM65|TRIM65	71399755|71399755	0.000000|0.000000	0.05858|0.05858	0.871000|0.871000	0.34182|0.34182	0.966000|0.966000	0.64601|0.64601	-0.428000|-0.428000	0.06991|0.06991	0.418000|0.418000	0.25898|0.25898	0.456000|0.456000	0.33151|0.33151	TGT|GTG	.	.		0.652	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547	
EIF4A3	9775	hgsc.bcm.edu	37	17	78110084	78110084	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr17:78110084T>A	ENST00000269349.3	-	10	1255	c.1034A>T	c.(1033-1035)cAg>cTg	p.Q345L		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	345	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GAGGGACACCTGAGGGACATC	0.428																																					p.Q345L		Atlas-SNP	.											.	EIF4A3	35	.	0			c.A1034T						.						107.0	104.0	105.0					17																	78110084		2203	4300	6503	SO:0001583	missense	9775	exon10			GACACCTGAGGGA	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.1034A>T	chr17.hg19:g.78110084T>A	ENSP00000269349:p.Gln345Leu	272.0	0.0		194.0	53.0	NM_014740	Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	ENST00000269349.3	hg19	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.459734	0.84317	.	.	ENSG00000141543	ENST00000269349	T	0.04809	3.55	4.03	4.03	0.46877	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.11836	0.0288	L	0.55743	1.74	0.80722	D	1	P	0.50156	0.932	P	0.55055	0.767	T	0.00819	-1.1553	10	0.87932	D	0	-27.5873	10.9528	0.47341	0.0:0.0:0.0:1.0	.	345	P38919	IF4A3_HUMAN	L	345	ENSP00000269349:Q345L	ENSP00000269349:Q345L	Q	-	2	0	EIF4A3	75724679	1.000000	0.71417	0.990000	0.47175	0.898000	0.52572	7.315000	0.78998	1.714000	0.51371	0.459000	0.35465	CAG	.	.		0.428	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740	
DOK6	220164	hgsc.bcm.edu	37	18	67365697	67365697	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr18:67365697C>T	ENST00000382713.5	+	5	657	c.467C>T	c.(466-468)aCa>aTa	p.T156I	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	156	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGTGAATGCACAATGCAGATC	0.438																																					p.T156I		Atlas-SNP	.											.	DOK6	56	.	0			c.C467T						.						131.0	112.0	118.0					18																	67365697		2203	4300	6503	SO:0001583	missense	220164	exon5			AATGCACAATGCA	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.467C>T	chr18.hg19:g.67365697C>T	ENSP00000372160:p.Thr156Ile	113.0	0.0		111.0	32.0	NM_152721	A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	hg19	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066350	0.55539	.	.	ENSG00000206052	ENST00000382713	D	0.82526	-1.62	5.72	5.72	0.89469	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.105872	0.64402	D	0.000005	T	0.73644	0.3613	N	0.11818	0.18	0.80722	D	1	B	0.26318	0.146	B	0.32928	0.155	T	0.68191	-0.5474	10	0.22109	T	0.4	.	18.8571	0.92257	0.0:1.0:0.0:0.0	.	156	Q6PKX4	DOK6_HUMAN	I	156	ENSP00000372160:T156I	ENSP00000372160:T156I	T	+	2	0	DOK6	65516677	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.706000	0.84615	2.709000	0.92574	0.591000	0.81541	ACA	.	.		0.438	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721	
SCAMP4	113178	hgsc.bcm.edu	37	19	1924197	1924197	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr19:1924197G>C	ENST00000316097.8	+	7	871	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	SCAMP4_ENST00000409472.1_Missense_Mutation_p.E168Q	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	202					protein transport (GO:0015031)	integral component of membrane (GO:0016021)							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGTCGAGGGAGGCCCAGTA	0.642																																					p.E202Q		Atlas-SNP	.											.	SCAMP4	7	.	0			c.G604C						.						38.0	48.0	45.0					19																	1924197		2008	4169	6177	SO:0001583	missense	113178	exon7			TCGAGGGAGGCCC	AK091166	CCDS45903.1	19p13.3	2013-02-21			ENSG00000227500	ENSG00000227500		"""Secretory carrier membrane proteins"""	30385	protein-coding gene	gene with protein product		613764					Standard	NM_079834		Approved	FLJ33847	uc002luj.4	Q969E2	OTTHUMG00000154590	ENST00000316097.8:c.604G>C	chr19.hg19:g.1924197G>C	ENSP00000316007:p.Glu202Gln	89.0	0.0		122.0	69.0	NM_079834	Q8N2N1|Q8NAV0	Missense_Mutation	SNP	ENST00000316097.8	hg19	CCDS45903.1	.	.	.	.	.	.	.	.	.	.	g	10.64	1.407442	0.25378	.	.	ENSG00000227500	ENST00000316097;ENST00000409472	T;T	0.32753	2.23;1.44	4.97	4.97	0.65823	.	.	.	.	.	T	0.24392	0.0591	L	0.31294	0.92	0.50313	D	0.999869	P;B	0.38535	0.635;0.361	B;B	0.37888	0.26;0.057	T	0.03325	-1.1048	9	0.15952	T	0.53	-16.849	17.2084	0.86924	0.0:0.0:1.0:0.0	.	168;202	Q969E2-2;Q969E2	.;SCAM4_HUMAN	Q	202;168	ENSP00000316007:E202Q;ENSP00000386865:E168Q	ENSP00000316007:E202Q	E	+	1	0	SCAMP4	1875197	1.000000	0.71417	0.989000	0.46669	0.230000	0.25150	3.534000	0.53568	2.301000	0.77427	0.462000	0.41574	GAG	.	.		0.642	SCAMP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336210.3	NM_079834	
NFIC	4782	hgsc.bcm.edu	37	19	3366645	3366645	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr19:3366645C>T	ENST00000443272.2	+	1	62	c.11C>T	c.(10-12)tCc>tTc	p.S4F	NFIC_ENST00000341919.3_Missense_Mutation_p.S4F|NFIC_ENST00000586919.1_Intron|NFIC_ENST00000589123.1_Intron|NFIC_ENST00000395111.3_Intron|NFIC_ENST00000590282.1_Missense_Mutation_p.S4F|NFIC_ENST00000346156.5_Intron	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	4					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		ATGTATTCGTCCCCGCTCTGC	0.741																																					p.S4F		Atlas-SNP	.											.	NFIC	36	.	0			c.C11T						.						8.0	12.0	11.0					19																	3366645		1929	3957	5886	SO:0001583	missense	4782	exon1			ATTCGTCCCCGCT	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.11C>T	chr19.hg19:g.3366645C>T	ENSP00000396843:p.Ser4Phe	104.0	0.0		133.0	31.0	NM_001245004	A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	hg19	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	c	15.52	2.858640	0.51376	.	.	ENSG00000141905	ENST00000341919;ENST00000343825;ENST00000269778	T	0.52057	0.68	2.37	2.37	0.29283	CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	.	.	.	.	T	0.29652	0.0740	N	0.03608	-0.345	0.80722	D	1	B;B;D	0.53885	0.378;0.378;0.963	B;B;P	0.49085	0.287;0.266;0.6	T	0.21690	-1.0238	9	0.87932	D	0	.	8.2664	0.31817	0.0:1.0:0.0:0.0	.	4;4;4	B7Z4U5;P08651;P08651-5	.;NFIC_HUMAN;.	F	4	ENSP00000342194:S4F	ENSP00000269778:S4F	S	+	2	0	NFIC	3317645	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.373000	0.34272	1.331000	0.45412	0.387000	0.25754	TCC	.	.		0.741	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597	
DPP9	91039	hgsc.bcm.edu	37	19	4695441	4695441	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr19:4695441C>A	ENST00000598800.1	-	13	1720	c.1215G>T	c.(1213-1215)agG>agT	p.R405S	DPP9_ENST00000262960.9_Missense_Mutation_p.R434S|DPP9_ENST00000597849.1_Missense_Mutation_p.R434S|DPP9_ENST00000594671.1_Missense_Mutation_p.R405S			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	405						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCTGGACATTCCTGGGGACAG	0.637																																					p.R434S		Atlas-SNP	.											.	DPP9	59	.	0			c.G1302T						.						18.0	21.0	20.0					19																	4695441		2051	4192	6243	SO:0001583	missense	91039	exon12			GACATTCCTGGGG	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1215G>T	chr19.hg19:g.4695441C>A	ENSP00000469603:p.Arg405Ser	161.0	0.0		232.0	60.0	NM_139159	O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.019	-1.465164	0.01053	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.28454	1.61	3.91	1.58	0.23477	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	1.390610	0.04174	N	0.325322	T	0.13586	0.0329	N	0.04297	-0.235	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.24584	-1.0156	10	0.13853	T	0.58	-5.6602	4.1753	0.10349	0.2314:0.6015:0.0:0.1671	.	405;434	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	S	513;375;434	ENSP00000262960:R434S	ENSP00000262960:R434S	R	-	3	2	DPP9	4646441	0.000000	0.05858	0.007000	0.13788	0.262000	0.26303	0.129000	0.15830	0.830000	0.34757	0.561000	0.74099	AGG	.	.		0.637	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2		
COL5A3	50509	hgsc.bcm.edu	37	19	10112250	10112250	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr19:10112250C>T	ENST00000264828.3	-	8	1145	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	354	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCCGGAAGTCAGGGCCCATG	0.552											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D354N		Atlas-SNP	.											.	COL5A3	243	.	0			c.G1060A						.						99.0	95.0	97.0					19																	10112250		2203	4300	6503	SO:0001583	missense	50509	exon8			GGAAGTCAGGGCC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1060G>A	chr19.hg19:g.10112250C>T	ENSP00000264828:p.Asp354Asn	98.0	0.0	662	132.0	43.0	NM_015719	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	hg19	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240366	0.22711	.	.	ENSG00000080573	ENST00000264828	D	0.89050	-2.46	4.74	-9.45	0.00600	.	1.251440	0.05709	U	0.595565	T	0.70780	0.3263	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58730	-0.7585	10	0.17832	T	0.49	.	7.6719	0.28463	0.0:0.1421:0.3559:0.502	.	354	P25940	CO5A3_HUMAN	N	354	ENSP00000264828:D354N	ENSP00000264828:D354N	D	-	1	0	COL5A3	9973250	0.000000	0.05858	0.004000	0.12327	0.840000	0.47671	-2.598000	0.00894	-1.636000	0.01533	0.462000	0.41574	GAC	.	.		0.552	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
PPAN	56342	hgsc.bcm.edu	37	19	10218693	10218693	+	Silent	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr19:10218693G>A	ENST00000253107.7	+	5	502	c.396G>A	c.(394-396)gaG>gaA	p.E132E	PPAN_ENST00000556468.1_Silent_p.E132E|PPAN-P2RY11_ENST00000428358.1_Silent_p.E132E|PPAN-P2RY11_ENST00000393796.4_Silent_p.E132E|PPAN_ENST00000393793.1_Silent_p.E79E|SNORD105B_ENST00000458770.1_RNA|SNORD105_ENST00000386910.1_RNA	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	132	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GCATGCACGAGCAGCAGTTTG	0.597																																					p.E132E		Atlas-SNP	.											.	PPAN	43	.	0			c.G396A						.						140.0	103.0	116.0					19																	10218693		2203	4300	6503	SO:0001819	synonymous_variant	56342	exon5			GCACGAGCAGCAG	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.396G>A	chr19.hg19:g.10218693G>A		79.0	0.0		123.0	23.0	NM_020230	C9J3F9|Q9BW97|Q9H170	Silent	SNP	ENST00000253107.7	hg19	CCDS12225.1																																																																																			.	.		0.597	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230	
TNPO2	30000	hgsc.bcm.edu	37	19	12822419	12822419	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr19:12822419G>C	ENST00000592287.1	-	10	1007	c.899C>G	c.(898-900)cCc>cGc	p.P300R	TNPO2_ENST00000425528.1_Missense_Mutation_p.P300R|TNPO2_ENST00000441499.1_Missense_Mutation_p.P300R|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000588216.1_Missense_Mutation_p.P300R|TNPO2_ENST00000356861.5_Missense_Mutation_p.P300R|TNPO2_ENST00000450764.2_Missense_Mutation_p.P300R	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	300					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACCAAGATGGGGATCAACCT	0.592																																					p.P300R		Atlas-SNP	.											.	TNPO2	108	.	0			c.C899G						.						58.0	56.0	57.0					19																	12822419		2008	4170	6178	SO:0001583	missense	30000	exon10			AAGATGGGGATCA	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.899C>G	chr19.hg19:g.12822419G>C	ENSP00000468434:p.Pro300Arg	63.0	0.0		73.0	39.0	NM_013433	O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	hg19	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847485	0.71603	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	4.98	4.98	0.66077	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87220	0.6123	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	D	0.91173	0.4970	10	0.87932	D	0	-25.4138	17.3752	0.87390	0.0:0.0:1.0:0.0	.	464;300	Q4LE60;O14787	.;TNPO2_HUMAN	R	464;300;300;300;300;300;300	ENSP00000407182:P300R;ENSP00000389648:P300R;ENSP00000397379:P300R;ENSP00000349321:P300R	ENSP00000349321:P300R	P	-	2	0	TNPO2	12683419	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	9.036000	0.93758	2.474000	0.83562	0.561000	0.74099	CCC	.	.		0.592	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433	
EPHX3	79852	hgsc.bcm.edu	37	19	15343002	15343002	+	Silent	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr19:15343002G>T	ENST00000221730.3	-	1	241	c.21C>A	c.(19-21)acC>acA	p.T7T	EPHX3_ENST00000435261.1_Silent_p.T7T|EPHX3_ENST00000602233.1_Silent_p.T7T	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	7						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCAGCAGCGCGGTCACCACCA	0.741																																					p.T7T		Atlas-SNP	.											.	EPHX3	22	.	0			c.C21A						.						6.0	7.0	7.0					19																	15343002		1786	3463	5249	SO:0001819	synonymous_variant	79852	exon2			CAGCGCGGTCACC	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.21C>A	chr19.hg19:g.15343002G>T		22.0	0.0		30.0	18.0	NM_001142886	A3KMR3	Silent	SNP	ENST00000221730.3	hg19	CCDS12327.1																																																																																			.	.		0.741	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	NM_024794	
SARS2	54938	hgsc.bcm.edu	37	19	39412662	39412662	+	Intron	SNP	T	T	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr19:39412662T>A	ENST00000221431.6	-	3	553				SARS2_ENST00000594171.1_Intron|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Silent_p.P150P|SARS2_ENST00000430193.3_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			aaagctggcctgggaatggga	0.483																																					p.P150P		Atlas-SNP	.											.	SARS2	33	.	0			c.A450T						.						81.0	80.0	81.0					19																	39412662		692	1591	2283	SO:0001627	intron_variant	54938	exon4			CTGGCCTGGGAAT	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.393+215A>T	chr19.hg19:g.39412662T>A		166.0	0.0		199.0	81.0	NM_001145901	A6NHW7|B4DE10|Q9BVP3	Silent	SNP	ENST00000221431.6	hg19	CCDS33017.1																																																																																			.	.		0.483	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827	
FCAR	2204	hgsc.bcm.edu	37	19	55401023	55401023	+	Missense_Mutation	SNP	C	C	G			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr19:55401023C>G	ENST00000355524.3	+	5	668	c.658C>G	c.(658-660)Cac>Gac	p.H220D	FCAR_ENST00000345937.4_Missense_Mutation_p.H124D|FCAR_ENST00000353758.4_Missense_Mutation_p.H111D|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000359272.4_Missense_Mutation_p.H208D|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391723.3_Missense_Mutation_p.P183R|FCAR_ENST00000391724.3_Missense_Mutation_p.H186D|FCAR_ENST00000391726.3_Missense_Mutation_p.H112D|FCAR_ENST00000391725.3_Missense_Mutation_p.H198D	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	220					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AGACTCCATCCACCAAGATTA	0.517																																					p.H220D		Atlas-SNP	.											.	FCAR	110	.	0			c.C658G						.						322.0	319.0	320.0					19																	55401023		2203	4300	6503	SO:0001583	missense	2204	exon5			TCCATCCACCAAG	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.658C>G	chr19.hg19:g.55401023C>G	ENSP00000347714:p.His220Asp	54.0	0.0		53.0	24.0	NM_002000	Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	hg19	CCDS12907.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.009|0.009	-1.858717|-1.858717	0.00558|0.00558	.|.	.|.	ENSG00000186431|ENSG00000186431	ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724|ENST00000391723	T;T;T;T;T;T;T|T	0.11277|0.00551	4.14;6.96;2.79;5.15;6.72;6.88;2.79|6.65	3.86|3.86	-7.72|-7.72	0.01250|0.01250	.|.	.|.	.|.	.|.	.|.	T|T	0.00468|0.00468	0.0015|0.0015	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B|B	0.10296|0.02656	0.0;0.001;0.0;0.001;0.003;0.0;0.002|0.0	B;B;B;B;B;B;B|B	0.09377|0.01281	0.0;0.003;0.0;0.0;0.004;0.0;0.001|0.0	T|T	0.36672|0.36672	-0.9738|-0.9738	8|8	0.10377|0.66056	T|D	0.69|0.02	.|.	14.192|14.192	0.65644|0.65644	0.1341:0.7877:0.0782:0.0|0.1341:0.7877:0.0782:0.0	.|.	111;186;112;208;198;124;220|183	Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071|Q92588	.;.;.;.;.;.;FCAR_HUMAN|.	D|R	112;220;198;124;111;208;186|183	ENSP00000375606:H112D;ENSP00000347714:H220D;ENSP00000375605:H198D;ENSP00000338257:H124D;ENSP00000338058:H111D;ENSP00000352218:H208D;ENSP00000375604:H186D|ENSP00000375603:P183R	ENSP00000338257:H124D|ENSP00000375603:P183R	H|P	+|+	1|2	0|0	FCAR|FCAR	60092835|60092835	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.114000|-1.114000	0.03293|0.03293	-2.658000|-2.658000	0.00420|0.00420	-1.772000|-1.772000	0.00662|0.00662	CAC|CCA	.	.		0.517	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000	
XRN2	22803	hgsc.bcm.edu	37	20	21312420	21312420	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr20:21312420G>T	ENST00000377191.3	+	8	759	c.664G>T	c.(664-666)Gac>Tac	p.D222Y	XRN2_ENST00000430571.2_Missense_Mutation_p.D146Y|XRN2_ENST00000539513.1_Missense_Mutation_p.D168Y	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	222					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D222Y(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GCCTAACCATGACCCAAATAC	0.343																																					p.D222Y		Atlas-SNP	.											XRN2,colon,carcinoma,0,1	XRN2	90	.	1	Substitution - Missense(1)	large_intestine(1)	c.G664T						.						227.0	199.0	209.0					20																	21312420		2203	4300	6503	SO:0001583	missense	22803	exon8			AACCATGACCCAA	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.664G>T	chr20.hg19:g.21312420G>T	ENSP00000366396:p.Asp222Tyr	170.0	0.0		111.0	48.0	NM_012255	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	hg19	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421264	0.83559	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.37411	1.22;1.2;1.21	5.18	5.18	0.71444	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	T	0.74419	0.3714	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84052	0.0370	10	0.87932	D	0	-18.0977	19.0515	0.93049	0.0:0.0:1.0:0.0	.	222	Q9H0D6	XRN2_HUMAN	Y	222;146;168	ENSP00000366396:D222Y;ENSP00000413548:D146Y;ENSP00000441113:D168Y	ENSP00000366396:D222Y	D	+	1	0	XRN2	21260420	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.247000	0.95444	2.556000	0.86216	0.655000	0.94253	GAC	.	.		0.343	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255	
ACTL10	170487	hgsc.bcm.edu	37	20	32256018	32256018	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr20:32256018C>A	ENST00000330271.4	+	1	1715	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	239																	TGGCTCCAGGCTGCTGTACGA	0.612											OREG0025871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L239M		Atlas-SNP	.											.	.	.	.	0			c.C715A						.						28.0	32.0	31.0					20																	32256018		2198	4293	6491	SO:0001583	missense	170487	exon1			TCCAGGCTGCTGT	AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 134"""	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.715C>A	chr20.hg19:g.32256018C>A	ENSP00000329647:p.Leu239Met	95.0	0.0	831	89.0	5.0	NM_001024675	B9EH76	Missense_Mutation	SNP	ENST00000330271.4	hg19	CCDS33463.1	.	.	.	.	.	.	.	.	.	.	c	14.90	2.673478	0.47781	.	.	ENSG00000182584	ENST00000330271	D	0.94862	-3.54	4.59	3.65	0.41850	.	0.540185	0.13903	N	0.354816	D	0.95252	0.8460	L	0.49350	1.555	0.28769	N	0.900475	D	0.76494	0.999	D	0.72338	0.977	D	0.89202	0.3558	10	0.87932	D	0	-11.191	6.9532	0.24556	0.0:0.798:0.0:0.202	.	239	Q5JWF8	CT134_HUMAN	M	239	ENSP00000329647:L239M	ENSP00000329647:L239M	L	+	1	2	C20orf134	31719679	0.355000	0.24921	0.987000	0.45799	0.810000	0.45777	0.626000	0.24492	1.165000	0.42670	-0.389000	0.06534	CTG	.	.		0.612	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078713.1		
PLCG1	5335	hgsc.bcm.edu	37	20	39791106	39791106	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr20:39791106A>T	ENST00000373271.1	+	5	932	c.527A>T	c.(526-528)gAc>gTc	p.D176V	PLCG1_ENST00000244007.3_Missense_Mutation_p.D176V|PLCG1_ENST00000373272.2_Missense_Mutation_p.D176V	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	176	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCAGCCAAGGACCTGAAGAAC	0.582																																					p.D176V		Atlas-SNP	.											.	PLCG1	111	.	0			c.A527T						.						104.0	87.0	93.0					20																	39791106		2203	4300	6503	SO:0001583	missense	5335	exon5			CCAAGGACCTGAA	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.527A>T	chr20.hg19:g.39791106A>T	ENSP00000362368:p.Asp176Val	102.0	0.0		104.0	30.0	NM_182811	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	hg19	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.935902	0.73442	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.43688	0.94;0.94;0.94	4.96	4.96	0.65561	EF-hand-like domain (1);	0.051911	0.85682	D	0.000000	T	0.62344	0.2420	M	0.73217	2.22	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.69479	0.964;0.943	T	0.67284	-0.5709	10	0.87932	D	0	.	14.2961	0.66314	1.0:0.0:0.0:0.0	.	176;176	P19174;A2A284	PLCG1_HUMAN;.	V	176	ENSP00000244007:D176V;ENSP00000362368:D176V;ENSP00000362369:D176V	ENSP00000244007:D176V	D	+	2	0	PLCG1	39224520	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	1.869000	0.54173	0.379000	0.24179	GAC	.	.		0.582	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
CLIC6	54102	hgsc.bcm.edu	37	21	36042758	36042758	+	Silent	SNP	C	C	T			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr21:36042758C>T	ENST00000360731.3	+	1	1071	c.1071C>T	c.(1069-1071)gaC>gaT	p.D357D	CLIC6_ENST00000349499.2_Silent_p.D357D			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	357						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CTGGCGAGGACAGGGTAGGGG	0.721																																					p.D357D		Atlas-SNP	.											.	CLIC6	49	.	0			c.C1071T						.						5.0	8.0	7.0					21																	36042758		1825	3569	5394	SO:0001819	synonymous_variant	54102	exon1			CGAGGACAGGGTA	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1071C>T	chr21.hg19:g.36042758C>T		165.0	0.0		163.0	12.0	NM_053277	A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	hg19																																																																																				.	.		0.721	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1		
MMP11	4320	hgsc.bcm.edu	37	22	24123543	24123543	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr22:24123543G>A	ENST00000215743.3	+	6	1074	c.1022G>A	c.(1021-1023)aGc>aAc	p.S341N		NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	341					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	GGACTGCCCAGCCCTGTGGAC	0.632																																					p.S341N		Atlas-SNP	.											.	MMP11	53	.	0			c.G1022A						.						26.0	26.0	26.0					22																	24123543		2202	4300	6502	SO:0001583	missense	4320	exon6			TGCCCAGCCCTGT		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.1022G>A	chr22.hg19:g.24123543G>A	ENSP00000215743:p.Ser341Asn	55.0	0.0		38.0	14.0	NM_005940	Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	hg19	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624648	0.28889	.	.	ENSG00000099953	ENST00000215743	T	0.02812	4.15	4.73	-1.76	0.08006	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.699813	0.16349	N	0.218319	T	0.01320	0.0043	N	0.12611	0.24	0.09310	N	1	B	0.15930	0.015	B	0.16289	0.015	T	0.46512	-0.9186	10	0.21540	T	0.41	.	1.9291	0.03323	0.2282:0.2443:0.4026:0.1248	.	341	P24347	MMP11_HUMAN	N	341	ENSP00000215743:S341N	ENSP00000215743:S341N	S	+	2	0	MMP11	22453543	0.005000	0.15991	0.967000	0.41034	0.947000	0.59692	1.403000	0.34612	0.028000	0.15324	0.650000	0.86243	AGC	.	.		0.632	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940	
THOC5	8563	hgsc.bcm.edu	37	22	29913067	29913067	+	Silent	SNP	C	C	G			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr22:29913067C>G	ENST00000490103.1	-	17	1754	c.1632G>C	c.(1630-1632)ctG>ctC	p.L544L	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Silent_p.L544L|THOC5_ENST00000397872.1_Silent_p.L544L|THOC5_ENST00000397873.2_Silent_p.L544L	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	544					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTCCCCAGCCAGTCCCGCAT	0.532																																					p.L544L		Atlas-SNP	.											.	THOC5	58	.	0			c.G1632C						.						150.0	138.0	142.0					22																	29913067		2203	4300	6503	SO:0001819	synonymous_variant	8563	exon18			CCCAGCCAGTCCC	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1632G>C	chr22.hg19:g.29913067C>G		151.0	0.0		99.0	39.0	NM_001002878	O60839|Q9UPZ5	Silent	SNP	ENST00000490103.1	hg19	CCDS13859.1																																																																																			.	.		0.532	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	
ASCC2	84164	hgsc.bcm.edu	37	22	30202839	30202839	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr22:30202839C>A	ENST00000397771.2	-	11	1140	c.963G>T	c.(961-963)gaG>gaT	p.E321D	ASCC2_ENST00000478812.1_5'UTR|ASCC2_ENST00000307790.3_Missense_Mutation_p.E321D|ASCC2_ENST00000542393.1_Missense_Mutation_p.E245D			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TGTGGAAAATCTCCATTAGCT	0.512																																					p.E321D		Atlas-SNP	.											.	ASCC2	53	.	0			c.G963T						.						99.0	91.0	94.0					22																	30202839		2203	4300	6503	SO:0001583	missense	84164	exon10			GAAAATCTCCATT	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.963G>T	chr22.hg19:g.30202839C>A	ENSP00000380877:p.Glu321Asp	98.0	0.0		73.0	13.0	NM_032204	B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	hg19	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494911	0.64186	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.08896	3.04;3.04;3.05	5.52	2.19	0.27852	.	0.049714	0.85682	N	0.000000	T	0.15392	0.0371	L	0.59436	1.845	0.52099	D	0.99994	P;D	0.63046	0.849;0.992	P;P	0.60173	0.555;0.87	T	0.14337	-1.0476	10	0.17369	T	0.5	-19.4826	7.746	0.28869	0.1241:0.6788:0.0:0.1971	.	245;321	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	D	321;321;245	ENSP00000305502:E321D;ENSP00000380877:E321D;ENSP00000437570:E245D	ENSP00000305502:E321D	E	-	3	2	ASCC2	28532839	0.998000	0.40836	0.998000	0.56505	0.755000	0.42902	0.595000	0.24029	0.778000	0.33520	0.655000	0.94253	GAG	.	.		0.512	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204	
DDX17	10521	hgsc.bcm.edu	37	22	38890032	38890032	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr22:38890032C>A	ENST00000396821.3	-	9	1418	c.1319G>T	c.(1318-1320)aGa>aTa	p.R440I	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.R361I	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	440	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCACCCATCTCTGCGCATCCT	0.348																																					p.R440I	Ovarian(55;1085 1454 6392 21425)	Atlas-SNP	.											.	DDX17	73	.	0			c.G1319T						.						180.0	154.0	162.0					22																	38890032		2203	4300	6503	SO:0001583	missense	10521	exon9			CCATCTCTGCGCA	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1319G>T	chr22.hg19:g.38890032C>A	ENSP00000380033:p.Arg440Ile	106.0	0.0		107.0	36.0	NM_006386	B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	ENST00000396821.3	hg19	CCDS46706.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567063	0.96540	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.75477	-0.94;-0.94;-0.94	5.8	5.8	0.92144	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	L	0.49513	1.565	0.80722	D	1	D;P;P	0.89917	1.0;0.93;0.914	D;P;P	0.81914	0.995;0.793;0.689	D	0.84632	0.0690	10	0.87932	D	0	-15.7527	20.0693	0.97712	0.0:1.0:0.0:0.0	.	361;442;440	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	I	440;361;440;442	ENSP00000380033:R440I;ENSP00000371046:R361I;ENSP00000385536:R440I	ENSP00000371046:R361I	R	-	2	0	DDX17	37219978	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.110000	0.50352	2.758000	0.94735	0.563000	0.77884	AGA	.	.		0.348	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881	
ARSA	410	hgsc.bcm.edu	37	22	51066154	51066154	+	Silent	SNP	G	G	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr22:51066154G>A	ENST00000547307.1	-	1	453	c.48C>T	c.(46-48)gcC>gcT	p.A16A	ARSA_ENST00000395619.3_Silent_p.A18A|ARSA_ENST00000547805.1_Silent_p.A16A|ARSA_ENST00000216124.5_Silent_p.A18A|ARSA_ENST00000453344.2_Intron|ARSA_ENST00000395621.3_Silent_p.A18A|ARSA_ENST00000356098.5_Silent_p.A18A			P15289	ARSA_HUMAN	arylsulfatase A	16					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	GACGGGCAACGGCCAGGCCAG	0.672																																					p.A18A		Atlas-SNP	.											.	ARSA	19	.	0			c.C54T						.						18.0	17.0	18.0					22																	51066154		2160	4215	6375	SO:0001819	synonymous_variant	410	exon2			GGCAACGGCCAGG	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.48C>T	chr22.hg19:g.51066154G>A		569.0	0.0		523.0	205.0	NM_001085426	B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Silent	SNP	ENST00000547307.1	hg19																																																																																				.	.		0.672	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487	
ZNF157	7712	hgsc.bcm.edu	37	X	47272152	47272152	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chrX:47272152T>A	ENST00000377073.3	+	4	766	c.680T>A	c.(679-681)tTt>tAt	p.F227Y		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	227					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGGAAATCTTTTGGCAGGAAG	0.433																																					p.F227Y		Atlas-SNP	.											.	ZNF157	46	.	0			c.T680A						.						73.0	65.0	68.0					X																	47272152		2203	4300	6503	SO:0001583	missense	7712	exon4			AATCTTTTGGCAG	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.680T>A	chrX.hg19:g.47272152T>A	ENSP00000366273:p.Phe227Tyr	156.0	1.0		162.0	125.0	NM_003446	Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	hg19	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420480	0.62622	.	.	ENSG00000147117	ENST00000377073	T	0.40476	1.03	3.09	1.87	0.25490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40694	0.1127	M	0.66439	2.03	0.25599	N	0.986619	P	0.40578	0.722	B	0.40659	0.336	T	0.32455	-0.9906	9	0.72032	D	0.01	.	6.2526	0.20854	0.2259:0.0:0.0:0.7741	.	227	P51786	ZN157_HUMAN	Y	227	ENSP00000366273:F227Y	ENSP00000366273:F227Y	F	+	2	0	ZNF157	47157096	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	7.316000	0.79007	0.403000	0.25479	0.486000	0.48141	TTT	.	.		0.433	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446	
THOC2	57187	hgsc.bcm.edu	37	X	122761595	122761595	+	Missense_Mutation	SNP	T	T	G			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chrX:122761595T>G	ENST00000245838.8	-	23	2737	c.2706A>C	c.(2704-2706)gaA>gaC	p.E902D	THOC2_ENST00000491737.1_Missense_Mutation_p.E787D|THOC2_ENST00000355725.4_Missense_Mutation_p.E902D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	902					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTTTATTGACTTCTCGTTCAT	0.378																																					p.E902D		Atlas-SNP	.											.	THOC2	310	.	0			c.A2706C						.						176.0	148.0	157.0					X																	122761595		1923	4132	6055	SO:0001583	missense	57187	exon23			ATTGACTTCTCGT	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2706A>C	chrX.hg19:g.122761595T>G	ENSP00000245838:p.Glu902Asp	114.0	0.0		155.0	18.0	NM_001081550	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	hg19	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198695	0.79015	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	T;T;T	0.38887	1.11;1.11;1.11	5.73	4.56	0.56223	THO complex, subunitTHOC2, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.70316	0.3210	M	0.93150	3.385	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.987	T	0.76958	-0.2766	10	0.66056	D	0.02	-21.9946	10.4534	0.44535	0.0:0.0768:0.0:0.9232	.	827;902	B4DKZ6;Q8NI27	.;THOC2_HUMAN	D	902;902;787;827	ENSP00000245838:E902D;ENSP00000347959:E902D;ENSP00000419795:E787D	ENSP00000245838:E902D	E	-	3	2	THOC2	122589276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.755000	0.47540	2.036000	0.60181	0.486000	0.48141	GAA	.	.		0.378	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
AXIN2	8313	hgsc.bcm.edu	37	17	63553964	63553964	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr17:63553964delC	ENST00000375702.5	-	1	883	c.775delG	c.(775-777)gcgfs	p.A259fs	AXIN2_ENST00000307078.5_Frame_Shift_Del_p.A259fs|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	259					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CTCACACTCGCCGTGGCCCTC	0.527									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																												p.A259fs		Atlas-Indel,Pindel	.											.	AXIN2	92	.	0			c.776delC						.						79.0	75.0	76.0					17																	63553964		2203	4300	6503	SO:0001589	frameshift_variant	8313	exon2	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	.	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.775delG	chr17.hg19:g.63553964delC	ENSP00000364854:p.Ala259fs	96.0	0.0		81.0	28.0	NM_004655	Q3MJ88|Q9H3M6|Q9UH84	Frame_Shift_Del	DEL	ENST00000375702.5	hg19																																																																																				.	.		0.527	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655	
RASA1	5921	hgsc.bcm.edu	37	5	86564557	86564577	+	In_Frame_Del	DEL	GGTGCTGCTGCTGGCGTGGCC	GGTGCTGCTGCTGGCGTGGCC	-	rs115606026|rs111840875	byFrequency	TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	GGTGCTGCTGCTGGCGTGGCC	GGTGCTGCTGCTGGCGTGGCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr5:86564557_86564577delGGTGCTGCTGCTGGCGTGGCC	ENST00000274376.6	+	1	853_873	c.289_309delGGTGCTGCTGCTGGCGTGGCC	c.(289-309)ggtgctgctgctggcgtggccdel	p.GAAAGVA97del	RASA1_ENST00000456692.2_5'Flank|RASA1_ENST00000506290.1_5'Flank|RASA1_ENST00000512763.1_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	97					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.A99_A106delAAGVAGAA(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		tggcgtagctggtgctgctgctggcgtggccggtgctgctg	0.652																																					p.96_103del		Atlas-Indel,Pindel	.											.	RASA1	213	.	1	Deletion - In frame(1)	large_intestine(1)	c.288_308del						.																																			SO:0001651	inframe_deletion	5921	exon1			.		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.289_309delGGTGCTGCTGCTGGCGTGGCC	chr5.hg19:g.86564557_86564577delGGTGCTGCTGCTGGCGTGGCC	ENSP00000274376:p.Gly97_Ala103del	89.0	0.0		89.0	21.0	NM_002890	B2R6W3|Q9UDI1	In_Frame_Del	DEL	ENST00000274376.6	hg19	CCDS34200.1																																																																																			.	.		0.652	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	
FN1	2335	hgsc.bcm.edu	37	2	216248812	216248813	+	Frame_Shift_Ins	INS	-	-	A	rs200252728		TCGA-CC-A9FS-01A-11D-A36X-10	TCGA-CC-A9FS-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	353e3047-6c29-4edb-8adb-f19e6d570a0f	c0bdfb14-d7ae-4bb0-a5bf-5c16a0c65e29	g.chr2:216248812_216248813insA	ENST00000359671.1	-	29	4816_4817	c.4551_4552insT	c.(4549-4554)actgtgfs	p.V1518fs	FN1_ENST00000356005.4_Frame_Shift_Ins_p.V1518fs|FN1_ENST00000354785.4_Frame_Shift_Ins_p.V1609fs|FN1_ENST00000323926.6_Frame_Shift_Ins_p.V1609fs|FN1_ENST00000432072.2_Frame_Shift_Ins_p.V1609fs|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000336916.4_Frame_Shift_Ins_p.V1518fs|FN1_ENST00000346544.3_Frame_Shift_Ins_p.V1518fs|FN1_ENST00000357009.2_Frame_Shift_Ins_p.V1518fs|FN1_ENST00000421182.1_Frame_Shift_Ins_p.V1518fs|FN1_ENST00000345488.5_Frame_Shift_Ins_p.V1518fs|FN1_ENST00000357867.4_Frame_Shift_Ins_p.V1518fs|FN1_ENST00000446046.1_Frame_Shift_Ins_p.V1518fs|FN1_ENST00000443816.1_Frame_Shift_Ins_p.V1518fs			P02751	FINC_HUMAN	fibronectin 1	1518	Cell-attachment.|Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ACAGCATACACAGTGATGGTAT	0.51																																					p.V1609fs		Atlas-Indel,Pindel	.											.	FN1	521	.	0			c.4825_4826insT						.																																			SO:0001589	frameshift_variant	2335	exon30			.		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4552dupT	chr2.hg19:g.216248813_216248813dupA	ENSP00000352696:p.Val1518fs	110.0	0.0		118.0	34.0	NM_212482	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Frame_Shift_Ins	INS	ENST00000359671.1	hg19																																																																																				.	.		0.510	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
