#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	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_End_position_hg18	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_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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TranscriptID	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_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
FBXL13	222235	hgsc.bcm.edu	37	7	102669142	102669143	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:102669142_102669143insT	ENST00000313221.4	-	4	547_548	c.121_122insA	c.(121-123)atgfs	p.M41fs	FBXL13_ENST00000379308.3_Frame_Shift_Ins_p.M41fs|FBXL13_ENST00000456695.1_Frame_Shift_Ins_p.M41fs|RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000436908.1_Frame_Shift_Ins_p.M41fs|FBXL13_ENST00000379305.3_Frame_Shift_Ins_p.M41fs|FBXL13_ENST00000379306.3_Frame_Shift_Ins_p.M41fs|FBXL13_ENST00000455112.2_Frame_Shift_Ins_p.M41fs|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000393772.2_Frame_Shift_Ins_p.M41fs	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	41								p.M41fs*32(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TGCTCTGTTCATTTTTTCAGCC	0.347																																					p.M41fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.122_123insA	7						.																																			102456379	SO:0001589	frameshift_variant	222235	exon4			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.122dupA	7.37:g.102669148_102669148dupT	ENSP00000321927:p.Met41fs	Somatic		Capture	SOLID	Phase_I	102456378	NM_001111038	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Frame_Shift_Ins	INS	ENST00000313221.4	37	CCDS5726.1																																																																																				0.347	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032	
DBF4	10926	hgsc.bcm.edu	37	7	87525813	87525814	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:87525813_87525814insA	ENST00000265728.1	+	7	1126_1127	c.622_623insA	c.(622-624)caafs	p.Q208fs		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	208					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.T210fs*21(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TAGTGGTGCACAAAAAACAAGA	0.297																																					p.Q208fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.622_623insA	7						.																																			87363750	SO:0001589	frameshift_variant	10926	exon7			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.628dupA	7.37:g.87525819_87525819dupA	ENSP00000265728:p.Gln208fs	Somatic		Capture	SOLID	Phase_I	87363749	NM_006716	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Frame_Shift_Ins	INS	ENST00000265728.1	37	CCDS5611.1																																																																																				0.297	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716	
ACOT8	10005	hgsc.bcm.edu	37	20	44477303	44477304	+	Frame_Shift_Ins	INS	-	-	AATCA			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:44477303_44477304insAATCA	ENST00000217455.4	-	3	363_364	c.273_274insTGATT	c.(271-276)aagctgfs	p.L92fs		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	92					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.L92fs*1(1)		kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				AGTACTGGCAGCTTCGGGTCCC	0.574																																					p.L92_P93delinsX												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.274_275insTGATT	20						.																																			43910711	SO:0001589	frameshift_variant	10005	exon3			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.273_274insTGATT	20.37:g.44477303_44477304insAATCA	ENSP00000217455:p.Leu92fs	Somatic		Capture	SOLID	Phase_I	43910710	NM_005469	O15261|Q17RX4	Frame_Shift_Ins	INS	ENST00000217455.4	37	CCDS13378.1																																																																																				0.574	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386	
IL17RA	23765	hgsc.bcm.edu	37	22	17590518	17590519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:17590518_17590519insC	ENST00000319363.6	+	13	2542_2543	c.2409_2410insC	c.(2410-2412)cccfs	p.P804fs		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	804					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)	p.E806fs*>62(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GCTCCCCGCAGCCCCCCGAGGG	0.658																																					p.Q803fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2409_2410insC	22						.																																			15970519	SO:0001589	frameshift_variant	23765	exon13			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.2415dupC	22.37:g.17590524_17590524dupC	ENSP00000320936:p.Pro804fs	Somatic		Capture	SOLID	Phase_I	15970518	NM_014339	O43844|Q20WK1	Frame_Shift_Ins	INS	ENST00000319363.6	37	CCDS13739.1																																																																																				0.658	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339	
CDC42BPB	9578	hgsc.bcm.edu	37	14	103447223	103447224	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:103447223_103447224insA	ENST00000361246.2	-	8	1314_1315	c.1026_1027insT	c.(1024-1029)tttgaafs	p.E343fs		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.E343fs*1(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTTAGACCTTCAAAAAACGCAT	0.455																																					p.E343_G344delinsX												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1027_1028insT	14						.																																			102516977	SO:0001589	frameshift_variant	9578	exon8			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1027dupT	14.37:g.103447229_103447229dupA	ENSP00000355237:p.Glu343fs	Somatic		Capture	SOLID	Phase_I	102516976	NM_006035		Frame_Shift_Ins	INS	ENST00000361246.2	37	CCDS9978.1																																																																																				0.455	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	
TEP1	7011	hgsc.bcm.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584																																					p.G1081fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.3243_3244insG	14						.																																			19922487	SO:0001589	frameshift_variant	7011	exon23				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3243dupG	14.37:g.20852653_20852653dupC	ENSP00000262715:p.Gly1081fs	Somatic		Capture	SOLID	Phase_I	19922486	NM_007110	A0AUV9	Frame_Shift_Ins	INS	ENST00000262715.5	37	CCDS9548.1																																																																																				0.584	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
LEPROTL1	23484	hgsc.bcm.edu	37	8	29963268	29963269	+	Frame_Shift_Ins	INS	-	-	G	rs371805932		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:29963268_29963269insG	ENST00000321250.8	+	4	401_402	c.286_287insG	c.(286-288)tggfs	p.W96fs	LEPROTL1_ENST00000523116.1_Intron|LEPROTL1_ENST00000518001.1_Frame_Shift_Ins_p.W35fs|LEPROTL1_ENST00000518192.1_Frame_Shift_Ins_p.W119fs|LEPROTL1_ENST00000442880.2_Intron	NM_015344.2	NP_056159.2	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	96						integral component of membrane (GO:0016021)		p.A98fs*27(1)		endometrium(1)|kidney(1)|large_intestine(3)	5				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		ATAGATTGAGTGGGGAGCTTGT	0.391																																					p.W96fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.286_287insG	8						.																																			30082811	SO:0001589	frameshift_variant	23484	exon4			AF063605	CCDS6075.1, CCDS47834.1	8p12	2014-09-11			ENSG00000104660	ENSG00000104660			6555	protein-coding gene	gene with protein product		607338				11342119	Standard	NM_015344		Approved	my047, Vps55	uc003xhx.2	O95214	OTTHUMG00000163820	ENST00000321250.8:c.290dupG	8.37:g.29963272_29963272dupG	ENSP00000314625:p.Trp96fs	Somatic		Capture	SOLID	Phase_I	30082810	NM_015344	E9PHP8|Q9BW48	Frame_Shift_Ins	INS	ENST00000321250.8	37	CCDS6075.1																																																																																				0.391	LEPROTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375771.2		
SPAG11B	10407	hgsc.bcm.edu	37	8	7318935	7318936	+	Intron	INS	-	-	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:7318935_7318936insA	ENST00000297498.2	-	2	381				SPAG11B_ENST00000317900.5_Frame_Shift_Ins_p.L112fs|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000361111.2_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.L112fs*10(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		AGTTTTAATGTAAACAGCAGGC	0.436																																					p.L112fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.336_337insT	8						.																																			7306346	SO:0001627	intron_variant	10407	exon3			AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.214+1292->T	8.37:g.7318938_7318938dupA		Somatic		Capture	SOLID	Phase_I	7306345	NM_058203	E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Frame_Shift_Ins	INS	ENST00000297498.2	37	CCDS5966.1																																																																																				0.436	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207	
SPTBN4	57731	hgsc.bcm.edu	37	19	41063115	41063116	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:41063115_41063116insG	ENST00000352632.3	+	26	5562_5563	c.5476_5477insG	c.(5476-5478)cggfs	p.R1826fs	SPTBN4_ENST00000392025.1_Frame_Shift_Ins_p.R569fs|SPTBN4_ENST00000392023.1_Frame_Shift_Ins_p.R502fs|SPTBN4_ENST00000598249.1_Frame_Shift_Ins_p.R1826fs|SPTBN4_ENST00000595535.1_Frame_Shift_Ins_p.R1826fs|SPTBN4_ENST00000338932.3_Frame_Shift_Ins_p.R1826fs			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1826					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A1827fs*12(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATGGGCACACGGGCCCAGCTG	0.644																																					p.R1826fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.5476_5477insG	19						.																																			45754956	SO:0001589	frameshift_variant	57731	exon26			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5479dupG	19.37:g.41063118_41063118dupG	ENSP00000263373:p.Arg1826fs	Somatic		Capture	SOLID	Phase_I	45754955	NM_020971	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Frame_Shift_Ins	INS	ENST00000352632.3	37	CCDS12559.1																																																																																				0.644	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		
ZNF233	353355	hgsc.bcm.edu	37	19	44777118	44777119	+	In_Frame_Ins	INS	-	-	CAG			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:44777118_44777119insCAG	ENST00000391958.2	+	5	432_433	c.305_306insCAG	c.(304-309)gacctt>gaCAGcctt	p.102_103DL>DSL	ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D102_L103insS(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TCATATGAAGACCTTATATGCT	0.322																																					p.D102delinsDS												.	.	1	Insertion - In frame(1)	large_intestine(1)	c.305_306insCAG	19						.																																			49468959	SO:0001652	inframe_insertion	353355	exon5			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		Exception_encountered	19.37:g.44777118_44777119insCAG	ENSP00000375820:p.Asp102_Leu103insSer	Somatic		Capture	SOLID	Phase_I	49468958	NM_181756	B2RN78|B2RN79|Q86WL8	In_Frame_Ins	INS	ENST00000391958.2	37	CCDS33047.1																																																																																				0.322	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756	
NAPA	8775	hgsc.bcm.edu	37	19	47996727	47996728	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:47996727_47996728insT	ENST00000263354.3	-	5	664_665	c.365_366insA	c.(364-366)aagfs	p.K122fs	NAPA_ENST00000595227.1_Frame_Shift_Ins_p.K83fs|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000593785.1_5'Flank	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	122					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.H123fs*7(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		AGATGTGGTGCTTGGCCGCAAT	0.604																																					p.K122fs	Ovarian(185;1135 2042 27703 31345 42493)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.366_367insA	19						.																																			52688540	SO:0001589	frameshift_variant	8775	exon5			U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.366dupA	19.37:g.47996729_47996729dupT	ENSP00000263354:p.Lys122fs	Somatic		Capture	SOLID	Phase_I	52688539	NM_003827	A8K879|Q96IK3|Q9BVJ3	Frame_Shift_Ins	INS	ENST00000263354.3	37	CCDS12702.1																																																																																				0.604	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827	
BARHL2	343472	hgsc.bcm.edu	37	1	91180261	91180262	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:91180261_91180262insG	ENST00000370445.4	-	2	718_719	c.677_678insC	c.(676-678)cctfs	p.P226fs		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	226					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.V227fs*24(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TGGCTCTCACAGGGGGACTCTC	0.55																																					p.P226fs	GBM(199;3561 4100 22440)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.678_679insC	1						.																																			90952850	SO:0001589	frameshift_variant	343472	exon2			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.678dupC	1.37:g.91180266_91180266dupG	ENSP00000359474:p.Pro226fs	Somatic		Capture	SOLID	Phase_I	90952849	NM_020063	A0AVP2|Q7Z4N7	Frame_Shift_Ins	INS	ENST00000370445.4	37	CCDS730.1																																																																																				0.550	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2		
TULP4	56995	hgsc.bcm.edu	37	6	158900956	158900957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:158900956_158900957insC	ENST00000367097.3	+	7	2557_2558	c.1200_1201insC	c.(1201-1203)cccfs	p.P401fs	TULP4_ENST00000367094.2_Frame_Shift_Ins_p.P401fs	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	401	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R403fs*91(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGCTGACTCTGCCCCCCCGCCT	0.644																																					p.L400fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1200_1201insC	6						.																																			158820945	SO:0001589	frameshift_variant	56995	exon7				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1207dupC	6.37:g.158900963_158900963dupC	ENSP00000356064:p.Pro401fs	Somatic		Capture	SOLID	Phase_I	158820944	NM_020245	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Frame_Shift_Ins	INS	ENST00000367097.3	37	CCDS34561.1																																																																																				0.644	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245	
TAPBP	6892	hgsc.bcm.edu	37	6	33273072	33273073	+	Frame_Shift_Ins	INS	-	-	G	rs561629511		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:33273072_33273073insG	ENST00000489157.1	-	3	512_513	c.300_301insC	c.(298-303)cccaccfs	p.T101fs	TAPBP_ENST00000434618.2_Frame_Shift_Ins_p.T188fs|TAPBP_ENST00000475304.1_Frame_Shift_Ins_p.T206fs|TAPBP_ENST00000456592.2_Frame_Shift_Ins_p.T188fs|TAPBP_ENST00000426633.2_Frame_Shift_Ins_p.T188fs			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	188					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)	p.T188fs*26(2)		endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GCCTCGGAGGTGGGGGGCATGT	0.629																																					p.T188fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.562_563insC	6						.																																			33381051	SO:0001589	frameshift_variant	6892	exon4			Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.301dupC	6.37:g.33273078_33273078dupG	ENSP00000419659:p.Thr101fs	Somatic		Capture	SOLID	Phase_I	33381050	NM_003190	A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Frame_Shift_Ins	INS	ENST00000489157.1	37	CCDS34427.2																																																																																				0.629	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2		
CWF19L2	143884	hgsc.bcm.edu	37	11	107224312	107224313	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:107224312_107224313insT	ENST00000282251.5	-	13	2049_2050	c.2022_2023insA	c.(2020-2025)aaatgtfs	p.C675fs	CWF19L2_ENST00000433523.1_Frame_Shift_Ins_p.C675fs	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	675							catalytic activity (GO:0003824)	p.C521fs*6(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CAATACAGACATTTTTCCATTT	0.386																																					p.C675fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2023_2024insA	11						.																																			106729523	SO:0001589	frameshift_variant	143884	exon13			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2023dupA	11.37:g.107224317_107224317dupT	ENSP00000282251:p.Cys675fs	Somatic		Capture	SOLID	Phase_I	106729522	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Frame_Shift_Ins	INS	ENST00000282251.5	37	CCDS8336.2																																																																																				0.386	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
CTSF	8722	hgsc.bcm.edu	37	11	66335105	66335106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:66335105_66335106insG	ENST00000310325.5	-	3	449_450	c.340_341insC	c.(340-342)ctcfs	p.L114fs	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	114					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)	p.L114fs*59(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTGTCTTCCGAGCTCATCCAGG	0.609																																					p.L114fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.341_342insC	11						.																																			66091682	SO:0001589	frameshift_variant	8722	exon3			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.341dupC	11.37:g.66335106_66335106dupG	ENSP00000310832:p.Leu114fs	Somatic		Capture	SOLID	Phase_I	66091681	NM_003793	B2R964|O95240|Q9NSU4|Q9UKQ5	Frame_Shift_Ins	INS	ENST00000310325.5	37	CCDS8144.1																																																																																				0.609	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	
RHBDL3	162494	hgsc.bcm.edu	37	17	30625159	30625160	+	Frame_Shift_Ins	INS	-	-	C	rs374969239		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:30625159_30625160insC	ENST00000269051.4	+	6	731_732	c.717_718insC	c.(718-720)cccfs	p.P240fs	RHBDL3_ENST00000538145.1_Frame_Shift_Ins_p.P232fs|RHBDL3_ENST00000536287.1_Frame_Shift_Ins_p.P142fs	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	240						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.L241fs*29(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TGGTGGGGGTGCCCCTGGAGAT	0.554																																					p.V239fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.717_718insC	17						.																																			27649273	SO:0001589	frameshift_variant	162494	exon6			AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.721dupC	17.37:g.30625163_30625163dupC	ENSP00000269051:p.Pro240fs	Somatic		Capture	SOLID	Phase_I	27649272	NM_138328	A6NMH1|Q495Y4|Q495Y5|Q495Y6	Frame_Shift_Ins	INS	ENST00000269051.4	37	CCDS32613.1																																																																																				0.554	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328	
ZNF276	92822	hgsc.bcm.edu	37	16	89804410	89804411	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:89804410_89804411insA	ENST00000443381.2	+	11	1698_1699	c.1601_1602insA	c.(1600-1605)aggcagfs	p.Q535fs	ZNF276_ENST00000568064.1_3'UTR|ZNF276_ENST00000446326.2_Frame_Shift_Ins_p.Q321fs|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000289816.5_Frame_Shift_Ins_p.Q460fs	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q460fs*15(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCCAGTGCAGGCAGCGGGCAT	0.599																																					p.R459fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1376_1377insA	16						.																																			88331912	SO:0001589	frameshift_variant	92822	exon11			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	Exception_encountered	16.37:g.89804410_89804411insA	ENSP00000415836:p.Gln535fs	Somatic		Capture	SOLID	Phase_I	88331911	NM_152287	Q0VGA1|Q2TBE8|Q3B7H7	Frame_Shift_Ins	INS	ENST00000443381.2	37	CCDS45554.1																																																																																				0.599	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287	
TBC1D23	55773	hgsc.bcm.edu	37	3	100039735	100039736	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:100039735_100039736insA	ENST00000394144.4	+	18	1945_1946	c.1938_1939insA	c.(1939-1941)aaafs	p.K647fs	TBC1D23_ENST00000344949.5_Frame_Shift_Ins_p.K632fs|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Frame_Shift_Ins_p.K510fs	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	647					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.?(2)|p.H650fs*3(1)|p.H635fs*3(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AAATTACATCCAAAAAAAAACA	0.356																																					p.S646fs												.	.	4	Unknown(2)|Insertion - Frameshift(2)	large_intestine(2)|skin(2)	c.1938_1939insA	3						.																																			101522426	SO:0001589	frameshift_variant	55773	exon18			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1947dupA	3.37:g.100039744_100039744dupA	ENSP00000377700:p.Lys647fs	Somatic		Capture	SOLID	Phase_I	101522425	NM_001199198	B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Frame_Shift_Ins	INS	ENST00000394144.4	37	CCDS56265.1																																																																																				0.356	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309	
GOLIM4	27333	hgsc.bcm.edu	37	3	167750530	167750531	+	Frame_Shift_Ins	INS	-	-	G	rs568767159		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:167750530_167750531insG	ENST00000470487.1	-	9	1642_1643	c.953_954insC	c.(952-954)ccafs	p.P318fs	GOLIM4_ENST00000309027.4_Frame_Shift_Ins_p.P290fs	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	318	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E319fs*13(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGATTGGCTCTGGGGGAGCCTG	0.515																																					p.P318fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.954_955insC	3						.																																			169233225	SO:0001589	frameshift_variant	27333	exon9			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.954dupC	3.37:g.167750535_167750535dupG	ENSP00000417354:p.Pro318fs	Somatic		Capture	SOLID	Phase_I	169233224	NM_014498		Frame_Shift_Ins	INS	ENST00000470487.1	37	CCDS3204.1																																																																																				0.515	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2		
LINS	55180	hgsc.bcm.edu	37	15	101109855	101109856	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:101109855_101109856insG	ENST00000314742.8	-	7	2083_2084	c.1861_1862insC	c.(1861-1863)cggfs	p.R621fs	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	621								p.R621fs*13(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTGAGAGGCCCGGGGGGAAGAC	0.525																																					p.R621fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1862_1863insC	15						.																																			98927379	SO:0001589	frameshift_variant	55180	exon7			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1862dupC	15.37:g.101109861_101109861dupG	ENSP00000318423:p.Arg621fs	Somatic		Capture	SOLID	Phase_I	98927378	NM_001040616	Q96FW2|Q9NVQ3	Frame_Shift_Ins	INS	ENST00000314742.8	37	CCDS10385.1																																																																																				0.525	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148	
BCL2L11	10018	hgsc.bcm.edu	37	2	111881562	111881563	+	In_Frame_Ins	INS	-	-	ACA			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:111881562_111881563insACA	ENST00000393256.3	+	2	513_514	c.240_241insACA	c.(241-243)atc>ACAatc	p.80_81insT	BCL2L11_ENST00000393253.2_Intron|BCL2L11_ENST00000337565.5_Intron|BCL2L11_ENST00000308659.8_Intron|BCL2L11_ENST00000357757.2_In_Frame_Ins_p.80_81insT|BCL2L11_ENST00000405953.1_Intron	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	80					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)		p.F80_I81insT(1)		endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CCCCGCTTTTCATCTTTATGAG	0.579																																					p.F80delinsFT												.	.	1	Insertion - In frame(1)	large_intestine(1)	c.240_241insACA	2						.																																			111598034	SO:0001652	inframe_insertion	10018	exon2			AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	Exception_encountered	2.37:g.111881562_111881563insACA	ENSP00000376943:p.Phe80_Ile81insThr	Somatic		Capture	SOLID	Phase_I	111598033	NM_138621	A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	In_Frame_Ins	INS	ENST00000393256.3	37	CCDS2089.1																																																																																				0.579	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254022.3		
ORC4	5000	hgsc.bcm.edu	37	2	148705768	148705769	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:148705768_148705769insT	ENST00000392857.5	-	9	720_721	c.613_614insA	c.(613-615)agafs	p.R205fs	ORC4_ENST00000540442.1_Frame_Shift_Ins_p.R131fs|ORC4_ENST00000542387.1_5'UTR|ORC4_ENST00000535373.1_Frame_Shift_Ins_p.R205fs|ORC4_ENST00000264169.2_Frame_Shift_Ins_p.R205fs|ORC4_ENST00000536575.1_Frame_Shift_Ins_p.R121fs|ORC4_ENST00000392858.1_Frame_Shift_Ins_p.R205fs	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	205					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.R205fs*24(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TGACTTCACTCTTTTTTCTAAG	0.297																																					p.R205fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.614_615insA	2						.																																			148422239	SO:0001589	frameshift_variant	5000	exon10			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.614dupA	2.37:g.148705774_148705774dupT	ENSP00000376597:p.Arg205fs	Somatic		Capture	SOLID	Phase_I	148422238	NM_001190879	B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Frame_Shift_Ins	INS	ENST00000392857.5	37	CCDS2187.1																																																																																				0.297	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742	
GALNT5	11227	hgsc.bcm.edu	37	2	158152992	158152993	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:158152992_158152993insA	ENST00000259056.4	+	5	2449_2450	c.1964_1965insA	c.(1963-1968)gcaaaafs	p.AK655fs	RN7SKP281_ENST00000410472.1_RNA	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	655					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.N657fs*4(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GATGTCATTGCAAAAAACAGAA	0.337																																					p.A655fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1964_1965insA	2						.																																			157861239	SO:0001589	frameshift_variant	11227	exon5			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1970dupA	2.37:g.158152998_158152998dupA	ENSP00000259056:p.Ala655fs	Somatic		Capture	SOLID	Phase_I	157861238	NM_014568	A5PKZ1|Q9UGK7|Q9UHL6	Frame_Shift_Ins	INS	ENST00000259056.4	37	CCDS2203.1																																																																																				0.337	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
KCNH7	90134	hgsc.bcm.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)gcafs	p.A749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACCTTTACTTGCCCCCCGAAAG	0.485																																					p.A749fs	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2246_2247insG	2						.																																			162965107	SO:0001589	frameshift_variant	90134	exon10			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2246dupG	2.37:g.163256866_163256866dupC	ENSP00000331727:p.Ala749fs	Somatic		Capture	SOLID	Phase_I	162965106	NM_033272	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Frame_Shift_Ins	INS	ENST00000332142.5	37	CCDS2219.1																																																																																				0.485	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
PGAP1	80055	hgsc.bcm.edu	37	2	197711835	197711836	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:197711835_197711836insG	ENST00000354764.4	-	22	2155_2156	c.2041_2042insC	c.(2041-2043)ctgfs	p.L681fs		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	681					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.L681fs*40(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CAAGGATATCAGGGGGAAACAC	0.401																																					p.L681fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2042_2043insC	2						.																																			197420081	SO:0001589	frameshift_variant	80055	exon22				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2042dupC	2.37:g.197711840_197711840dupG	ENSP00000346809:p.Leu681fs	Somatic		Capture	SOLID	Phase_I	197420080	NM_024989	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Frame_Shift_Ins	INS	ENST00000354764.4	37	CCDS2318.1																																																																																				0.401	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989	
SPAG16	79582	hgsc.bcm.edu	37	2	214204963	214204964	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:214204963_214204964insA	ENST00000331683.5	+	6	708_709	c.613_614insA	c.(613-615)gaafs	p.E205fs	SPAG16_ENST00000447990.1_Frame_Shift_Ins_p.E205fs|SPAG16_ENST00000272898.7_Frame_Shift_Ins_p.E205fs|SPAG16_ENST00000374309.3_Frame_Shift_Ins_p.E111fs|SPAG16_ENST00000413312.1_Frame_Shift_Ins_p.E174fs|SPAG16_ENST00000414961.2_3'UTR	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	205					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.N207fs*5(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AATAGTCCAGGAAAAAAACAAA	0.277																																					p.E205fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.613_614insA	2						.																																			213913209	SO:0001589	frameshift_variant	79582	exon6			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.620dupA	2.37:g.214204970_214204970dupA	ENSP00000332592:p.Glu205fs	Somatic		Capture	SOLID	Phase_I	213913208	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Frame_Shift_Ins	INS	ENST00000331683.5	37	CCDS2396.1																																																																																				0.277	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
ANGPTL2	23452	hgsc.bcm.edu	37	9	129870336	129870337	+	In_Frame_Ins	INS	-	-	TCC			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:129870336_129870337insTCC	ENST00000373425.3	-	2	1291_1292	c.674_675insGGA	c.(673-675)tac>taGGAc	p.225_225Y>*D	RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000491991.1_5'Flank	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	225					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.Y225>*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGGGTGGTTGGTAGACCCGGGG	0.634																																					p.Y225delinsX												.	.	1	Unknown(1)	large_intestine(1)	c.675_676insGGA	9						.																																			128910158	SO:0001652	inframe_insertion	23452	exon2			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.674_675insGGA	9.37:g.129870336_129870337insTCC	ENSP00000362524:p.Tyr225delins*Asp	Somatic		Capture	SOLID	Phase_I	128910157	NM_012098	Q5JT58|Q8NCH7	In_Frame_Ins	INS	ENST00000373425.3	37	CCDS6868.1																																																																																				0.634	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098	
LGI1	9211	hgsc.bcm.edu	37	10	95552601	95552602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:95552601_95552602insC	ENST00000371418.4	+	6	865_866	c.605_606insC	c.(604-609)ggccccfs	p.GP202fs	LGI1_ENST00000371413.3_Frame_Shift_Ins_p.GP202fs|LGI1_ENST00000542308.1_Frame_Shift_Ins_p.GP154fs	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	202	LRRCT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.E205fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TACTGCGAAGGCCCCCCAGAAT	0.421																																					p.G202fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.605_606insC	10						.																																			95542592	SO:0001589	frameshift_variant	9211	exon6			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.611dupC	10.37:g.95552607_95552607dupC	ENSP00000360472:p.Gly202fs	Somatic		Capture	SOLID	Phase_I	95542591	NM_005097	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Frame_Shift_Ins	INS	ENST00000371418.4	37	CCDS7431.1																																																																																				0.421	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097	
ARHGAP19	84986	hgsc.bcm.edu	37	10	98988910	98988911	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:98988910_98988911insC	ENST00000358531.4	-	11	1495_1496	c.1467_1468insG	c.(1465-1470)gggaaafs	p.K490fs	ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000355366.5_Frame_Shift_Ins_p.K481fs|ARHGAP19-SLIT1_ENST00000358308.3_Frame_Shift_Ins_p.K461fs|ARHGAP19-SLIT1_ENST00000453547.2_Frame_Shift_Ins_p.K490fs|ARHGAP19-SLIT1_ENST00000316676.8_Frame_Shift_Ins_p.K490fs|ARHGAP19_ENST00000371027.1_Frame_Shift_Ins_p.K481fs	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	490					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.K309fs*>6(1)|p.K490fs*>6(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		GTACCTTTTTTCCCCTCTTTCT	0.371																																					p.K490fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.1468_1469insG	10						.		,	0,4264		0,0,2132					,	4.3	1.0			179	1,8253		0,1,4126	no	frameshift,frameshift	ARHGAP19	NM_032900.5,NM_001204300.1	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				98978901	SO:0001589	frameshift_variant	84986	exon11			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.1468dupG	10.37:g.98988914_98988914dupC	ENSP00000351333:p.Lys490fs	Somatic		Capture	SOLID	Phase_I	98978900	NM_032900	A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Frame_Shift_Ins	INS	ENST00000358531.4	37	CCDS7454.2																																																																																				0.371	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900	
TCERG1	10915	hgsc.bcm.edu	37	5	145859645	145859646	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:145859645_145859646insA	ENST00000296702.5	+	12	1912_1913	c.1874_1875insA	c.(1873-1878)gcaaaafs	p.AK625fs	TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.AK604fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	625					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.R628fs*6(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGTTAAAGCAAAAAAACGGA	0.282																																					p.A604fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1811_1812insA	5						.																																			145839839	SO:0001589	frameshift_variant	10915	exon11			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1881dupA	5.37:g.145859652_145859652dupA	ENSP00000296702:p.Ala625fs	Somatic		Capture	SOLID	Phase_I	145839838	NM_001040006	Q2NKN2|Q59EA1	Frame_Shift_Ins	INS	ENST00000296702.5	37	CCDS4282.1																																																																																				0.282	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
HCN1	348980	hgsc.bcm.edu	37	5	45303784	45303785	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:45303784_45303785insT	ENST00000303230.4	-	6	1591_1592	c.1534_1535insA	c.(1534-1536)atgfs	p.M512fs		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	512					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.M512fs*17(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AATGAAATACATTTTTTTACCC	0.401																																					p.M512fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1535_1536insA	5						.																																			45339542	SO:0001589	frameshift_variant	348980	exon6			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1535dupA	5.37:g.45303791_45303791dupT	ENSP00000307342:p.Met512fs	Somatic		Capture	SOLID	Phase_I	45339541	NM_021072		Frame_Shift_Ins	INS	ENST00000303230.4	37	CCDS3952.1																																																																																				0.401	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
EPHB4	2050	hgsc.bcm.edu	37	7	100411603	100411603	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:100411603G>T	ENST00000358173.3	-	9	2097	c.1629C>A	c.(1627-1629)ggC>ggA	p.G543G	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Silent_p.G543G	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	543					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGACTGCCGTGCCCGCAATCA	0.642																																					p.G543G	GBM(200;2113 3072 25865 52728)											.	.	0			c.C1629A	7						.						93.0	75.0	81.0					7																	100411603		2203	4300	6503	100249539	SO:0001819	synonymous_variant	2050	exon9			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1629C>A	7.37:g.100411603G>T		Somatic		Capture	SOLID	Phase_I	100249539	NM_004444	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	CCDS5706.1																																																																																				0.642	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444	
IMMP2L	83943	hgsc.bcm.edu	37	7	111161407	111161407	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:111161407C>A	ENST00000405709.2	-	2	539	c.97G>T	c.(97-99)Gtc>Ttc	p.V33F	IMMP2L_ENST00000447215.1_Missense_Mutation_p.V33F|IMMP2L_ENST00000331762.3_Missense_Mutation_p.V33F|IMMP2L_ENST00000452895.1_Missense_Mutation_p.V33F|IMMP2L_ENST00000437687.1_Missense_Mutation_p.V33F|IMMP2L_ENST00000415362.1_Missense_Mutation_p.V33F	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	33					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)	p.V33F(1)		endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		ACACAGGCGACCCGATCCAAG	0.448																																					p.V33F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G97T	7						.						125.0	125.0	125.0					7																	111161407		2203	4300	6503	110948643	SO:0001583	missense	83943	exon2			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.97G>T	7.37:g.111161407C>A	ENSP00000384966:p.Val33Phe	Somatic		Capture	SOLID	Phase_I	110948643	NM_032549	Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Missense_Mutation	SNP	ENST00000405709.2	37	CCDS5753.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158466	0.57368	.	.	ENSG00000184903	ENST00000405709;ENST00000331762;ENST00000452895;ENST00000415362;ENST00000447215;ENST00000437687;ENST00000452753	.	.	.	5.9	5.01	0.66863	Peptidase S24/S26A/S26B/S26C (1);	0.412733	0.24508	N	0.037911	T	0.74092	0.3671	M	0.71206	2.165	0.54753	D	0.999986	D;P	0.57571	0.98;0.917	P;P	0.56700	0.804;0.548	T	0.75141	-0.3422	9	0.41790	T	0.15	-0.5016	16.7023	0.85357	0.0:0.8701:0.1299:0.0	.	33;33	Q96T52-2;Q96T52	.;IMP2L_HUMAN	F	33	.	ENSP00000329553:V33F	V	-	1	0	IMMP2L	110948643	0.998000	0.40836	0.651000	0.29564	0.994000	0.84299	3.757000	0.55212	1.482000	0.48325	0.591000	0.81541	GTC		0.448	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338109.4	NM_032549	
IMMP2L	83943	hgsc.bcm.edu	37	7	111161477	111161477	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:111161477T>A	ENST00000405709.2	-	2	469	c.27A>T	c.(25-27)aaA>aaT	p.K9N	IMMP2L_ENST00000447215.1_Missense_Mutation_p.K9N|IMMP2L_ENST00000331762.3_Missense_Mutation_p.K9N|IMMP2L_ENST00000452895.1_Missense_Mutation_p.K9N|IMMP2L_ENST00000437687.1_Missense_Mutation_p.K9N|IMMP2L_ENST00000415362.1_Missense_Mutation_p.K9N	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	9					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)	p.K9N(1)		endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TGATGTATCTTTTCACCCACC	0.423																																					p.K9N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A27T	7						.						105.0	101.0	102.0					7																	111161477		2203	4300	6503	110948713	SO:0001583	missense	83943	exon2			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.27A>T	7.37:g.111161477T>A	ENSP00000384966:p.Lys9Asn	Somatic		Capture	SOLID	Phase_I	110948713	NM_032549	Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Missense_Mutation	SNP	ENST00000405709.2	37	CCDS5753.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.813197	0.50527	.	.	ENSG00000184903	ENST00000405709;ENST00000331762;ENST00000452895;ENST00000415362;ENST00000447215;ENST00000437687;ENST00000452753	.	.	.	5.97	3.6	0.41247	.	0.243537	0.42294	D	0.000722	T	0.24084	0.0583	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.24043	0.096;0.023	B;B	0.23852	0.049;0.032	T	0.16129	-1.0413	9	0.25751	T	0.34	-3.1518	9.4782	0.38884	0.0:0.2056:0.0:0.7944	.	9;9	Q96T52-2;Q96T52	.;IMP2L_HUMAN	N	9	.	ENSP00000329553:K9N	K	-	3	2	IMMP2L	110948713	0.058000	0.20735	0.119000	0.21687	0.951000	0.60555	0.738000	0.26158	0.509000	0.28195	0.482000	0.46254	AAA		0.423	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338109.4	NM_032549	
RNF133	168433	hgsc.bcm.edu	37	7	122338952	122338952	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:122338952G>A	ENST00000340112.2	-	1	258	c.21C>T	c.(19-21)ggC>ggT	p.G7G	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	7					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TTCTCCAAGTGCCAACCTTGA	0.413																																					p.G7G	Colon(198;1778 2057 7449 19869 45985)											.	.	0			c.C21T	7						.						58.0	56.0	57.0					7																	122338952		2202	4290	6492	122126188	SO:0001819	synonymous_variant	168433	exon1			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.21C>T	7.37:g.122338952G>A		Somatic		Capture	SOLID	Phase_I	122126188	NM_139175	A4D0W2|Q8N7G7	Silent	SNP	ENST00000340112.2	37	CCDS5784.1																																																																																				0.413	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175	
SND1	27044	hgsc.bcm.edu	37	7	127725826	127725826	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:127725826C>T	ENST00000354725.3	+	20	2492	c.2298C>T	c.(2296-2298)taC>taT	p.Y766Y		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	766	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.Y766Y(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ACATTGACTACGGCAACGTGA	0.527																																					p.Y766Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2298T	7						.						151.0	133.0	139.0					7																	127725826		2203	4300	6503	127513062	SO:0001819	synonymous_variant	27044	exon20				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2298C>T	7.37:g.127725826C>T		Somatic		Capture	SOLID	Phase_I	127513062	NM_014390	Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	CCDS34747.1																																																																																				0.527	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390	
ZC3HC1	51530	hgsc.bcm.edu	37	7	129662198	129662198	+	Silent	SNP	C	C	T	rs376144551		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:129662198C>T	ENST00000358303.4	-	9	1485	c.1401G>A	c.(1399-1401)gcG>gcA	p.A467A	ZC3HC1_ENST00000360708.5_Silent_p.A396A|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000311873.5_Silent_p.A446A|ZC3HC1_ENST00000481503.1_Silent_p.A424A|RP11-306G20.1_ENST00000587038.1_RNA	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	467					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.A467A(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					ACTGTTTGTGCGCCAAGAGGA	0.562																																					p.A467A	Melanoma(115;540 1606 16325 28853 48167)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1401A	7						.	C		1,4405	2.1+/-5.4	0,1,2202	88.0	75.0	79.0		1401	3.1	1.0	7		79	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZC3HC1	NM_016478.3		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		467/503	129662198	3,13003	2203	4300	6503	129449434	SO:0001819	synonymous_variant	51530	exon9			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.1401G>A	7.37:g.129662198C>T		Somatic		Capture	SOLID	Phase_I	129449434	NM_016478	A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Silent	SNP	ENST00000358303.4	37	CCDS34753.1																																																																																				0.562	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478	
TBXAS1	6916	hgsc.bcm.edu	37	7	139611041	139611041	+	Missense_Mutation	SNP	G	G	A	rs372928270		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:139611041G>A	ENST00000455353.1	+	4	391	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	TBXAS1_ENST00000458722.1_Missense_Mutation_p.R85Q|TBXAS1_ENST00000414508.2_Missense_Mutation_p.R86Q|TBXAS1_ENST00000448866.1_Missense_Mutation_p.R85Q|TBXAS1_ENST00000425687.1_Missense_Mutation_p.R18Q|TBXAS1_ENST00000411653.1_Missense_Mutation_p.R85Q|TBXAS1_ENST00000436047.2_Missense_Mutation_p.R86Q|TBXAS1_ENST00000336425.5_Missense_Mutation_p.R85Q|TBXAS1_ENST00000416849.2_Missense_Mutation_p.R86Q|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000539806.1_Missense_Mutation_p.R86Q|TBXAS1_ENST00000263552.6_Missense_Mutation_p.R86Q			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	85			R -> W (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)	p.R86Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CTTGGTCGTCGGATGTTTATT	0.388																																					p.R86Q												TBXAS1,breast,NS,Substitution - Missense,+1	.	1	Substitution - Missense(1)	large_intestine(1)	c.G257A	7						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	237.0	211.0	220.0		257,257,257,53,257	0.7	1.0	7		220	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	TBXAS1	NM_001061.4,NM_001130966.2,NM_001166253.1,NM_001166254.1,NM_030984.3	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	86/535,86/535,86/581,18/467,86/461	139611041	1,13005	2203	4300	6503	139257510	SO:0001583	missense	6916	exon4			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.254G>A	7.37:g.139611041G>A	ENSP00000391567:p.Arg85Gln	Somatic		Capture	SOLID	Phase_I	139257510	NM_001061	B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000455353.1	37		.	.	.	.	.	.	.	.	.	.	G	5.023	0.190014	0.09547	2.27E-4	0.0	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000455353;ENST00000458722;ENST00000411653;ENST00000539806	T;T;T;T;T;T;T;T;T;T;T;T	0.69040	-0.37;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.75	0.67	0.17923	.	0.360468	0.27113	N	0.020877	T	0.35653	0.0939	N	0.17379	0.485	0.42809	D	0.993959	B;B;B;B;B;B;B;B	0.31413	0.025;0.167;0.322;0.016;0.308;0.025;0.028;0.028	B;B;B;B;B;B;B;B	0.25506	0.041;0.041;0.061;0.007;0.041;0.035;0.007;0.007	T	0.33420	-0.9869	10	0.05525	T	0.97	.	4.381	0.11293	0.3379:0.0:0.515:0.147	.	86;66;86;37;18;86;86;85	B7Z6W1;B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;.;THAS_HUMAN	Q	18;86;85;85;86;86;86;85;85;85;85;86	ENSP00000388736:R18Q;ENSP00000263552:R86Q;ENSP00000388612:R85Q;ENSP00000338087:R85Q;ENSP00000389414:R86Q;ENSP00000392361:R86Q;ENSP00000392702:R86Q;ENSP00000402536:R85Q;ENSP00000391567:R85Q;ENSP00000411274:R85Q;ENSP00000411326:R85Q;ENSP00000444626:R86Q	ENSP00000263552:R86Q	R	+	2	0	TBXAS1	139257510	0.996000	0.38824	0.998000	0.56505	0.812000	0.45895	1.036000	0.30228	0.058000	0.16222	0.485000	0.47835	CGG		0.388	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1		
BRAF	673	hgsc.bcm.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												p.V600E	Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	BRAF,pituitary,NS,Substitution - Missense,0	.	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	c.T1799A	7						.						112.0	104.0	107.0					7																	140453136		2203	4300	6503	140099605	SO:0001583	missense	673	exon15	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu	Somatic		Capture	SOLID	Phase_I	140099605	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
TAS2R3	50831	hgsc.bcm.edu	37	7	141464552	141464552	+	Silent	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:141464552C>A	ENST00000247879.2	+	1	656	c.594C>A	c.(592-594)gcC>gcA	p.A198A	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	198					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.A198A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TGTCCCTGGCCTCCTACTCTT	0.517																																					p.A198A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C594A	7						.						135.0	116.0	122.0					7																	141464552		2203	4300	6503	141111021	SO:0001819	synonymous_variant	50831	exon1			AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.594C>A	7.37:g.141464552C>A		Somatic		Capture	SOLID	Phase_I	141111021	NM_016943	A4D1U2|Q645W2|Q75MV6	Silent	SNP	ENST00000247879.2	37	CCDS5867.1																																																																																				0.517	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1		
TRPV6	55503	hgsc.bcm.edu	37	7	142572364	142572364	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:142572364G>T	ENST00000359396.3	-	11	1577	c.1332C>A	c.(1330-1332)ctC>ctA	p.L444L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	444					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.L444L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGGCACTGATGAGCCGCATCA	0.617																																					p.L444L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1332A	7						.						84.0	69.0	74.0					7																	142572364		2203	4300	6503	142282486	SO:0001819	synonymous_variant	55503	exon11			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1332C>A	7.37:g.142572364G>T		Somatic		Capture	SOLID	Phase_I	142282486	NM_018646	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	CCDS5874.1																																																																																				0.617	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
ARHGEF5	7984	hgsc.bcm.edu	37	7	144077106	144077106	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:144077106G>T	ENST00000056217.5	+	15	4925	c.4751G>T	c.(4750-4752)cGa>cTa	p.R1584L	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.R506L	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1584					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1584L(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GAAGCTCATCGAGTCAAGACT	0.547																																					p.R1584L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4751T	7						.						115.0	112.0	113.0					7																	144077106		2203	4300	6503	143708039	SO:0001583	missense	7984	exon15			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4751G>T	7.37:g.144077106G>T	ENSP00000056217:p.Arg1584Leu	Somatic		Capture	SOLID	Phase_I	143708039	NM_005435	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.3|29.3	4.994528|4.994528	0.93167|0.93167	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000474817|ENST00000056217;ENST00000344879;ENST00000471847	.|T;T	.|0.81078	.|-1.45;-0.92	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.076806	.|0.51477	.|D	.|0.000082	.|D	.|0.84488	.|0.5483	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.91635	.|0.967;0.999	.|D	.|0.85855	.|0.1406	.|10	.|0.72032	.|D	.|0.01	-10.9098|-10.9098	16.5763|16.5763	0.84648|0.84648	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|385;1584	.|B3KQX6;Q12774	.|.;ARHG5_HUMAN	X|L	784|1584;385;506	.|ENSP00000056217:R1584L;ENSP00000418227:R506L	.|ENSP00000056217:R1584L	E|R	+|+	1|2	0|0	ARHGEF5|ARHGEF5	143708039|143708039	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.958000|0.958000	0.62258|0.62258	9.186000|9.186000	0.94906|0.94906	2.771000|2.771000	0.95319|0.95319	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.547	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435	
CNTNAP2	26047	hgsc.bcm.edu	37	7	146536934	146536934	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:146536934C>T	ENST00000361727.3	+	3	856	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	114	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.		R -> Q (in dbSNP:rs189731792). {ECO:0000269|PubMed:18179895}.		adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R114W(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACCCAATACCGGATGCTCTA	0.473										HNSCC(39;0.1)																											p.R114W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C340T	7						.						97.0	88.0	91.0					7																	146536934		2203	4300	6503	146167867	SO:0001583	missense	26047	exon3			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.340C>T	7.37:g.146536934C>T	ENSP00000354778:p.Arg114Trp	Somatic		Capture	SOLID	Phase_I	146167867	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928866	0.73327	.	.	ENSG00000174469	ENST00000361727	D	0.98381	-4.9	5.83	4.9	0.64082	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.51477	D	0.000088	D	0.97536	0.9193	M	0.70787	2.145	0.80722	D	1	D	0.56035	0.974	P	0.49999	0.628	D	0.96074	0.9048	10	0.41790	T	0.15	.	10.3529	0.43948	0.1499:0.705:0.145:0.0	.	114	Q9UHC6	CNTP2_HUMAN	W	114	ENSP00000354778:R114W	ENSP00000354778:R114W	R	+	1	2	CNTNAP2	146167867	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.827000	0.55745	2.760000	0.94817	0.650000	0.86243	CGG		0.473	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
CYTH3	9265	hgsc.bcm.edu	37	7	6204589	6204589	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:6204589C>T	ENST00000350796.3	-	13	1322	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	CYTH3_ENST00000488964.1_5'Flank|CYTH3_ENST00000396741.2_Missense_Mutation_p.A311T	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	397	C-terminal autoinhibitory region.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.A396T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TTTTTATTGGCAATCCTTCGT	0.527																																					p.A396T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1186A	7						.						255.0	264.0	261.0					7																	6204589		2203	4300	6503	6171114	SO:0001583	missense	9265	exon13			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.1186G>A	7.37:g.6204589C>T	ENSP00000297044:p.Ala396Thr	Somatic		Capture	SOLID	Phase_I	6171114	NM_004227	A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066032	0.55539	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.18174	2.63;2.23	5.66	5.66	0.87406	.	0.256138	0.45126	D	0.000391	T	0.08670	0.0215	N	0.02247	-0.625	0.58432	D	0.999996	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.35773	-0.9775	10	0.18276	T	0.48	.	19.3227	0.94248	0.0:1.0:0.0:0.0	.	311;396	B7Z2V9;O43739-2	.;.	T	396;311	ENSP00000297044:A396T;ENSP00000379967:A311T	ENSP00000297044:A396T	A	-	1	0	CYTH3	6171114	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.560000	0.60802	2.668000	0.90789	0.561000	0.74099	GCC		0.527	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227	
KLHL7	55975	hgsc.bcm.edu	37	7	23145647	23145647	+	Start_Codon_SNP	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:23145647T>G	ENST00000339077.5	+	1	245	c.2T>G	c.(1-3)aTg>aGg	p.M1R	KLHL7_ENST00000539124.1_De_novo_Start_OutOfFrame|KLHL7_ENST00000542558.1_De_novo_Start_OutOfFrame|KLHL7_ENST00000479288.1_3'UTR|KLHL7-AS1_ENST00000419813.1_lincRNA|KLHL7_ENST00000545771.1_5'Flank|KLHL7_ENST00000409689.1_5'Flank|KLHL7_ENST00000322231.7_De_novo_Start_OutOfFrame|KLHL7_ENST00000410047.1_5'Flank|KLHL7_ENST00000322275.5_Start_Codon_SNP_p.M1R	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	1					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.M1R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAGGGAGGATGGCAGCCTCT	0.612																																					p.M1R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2G	7						.						36.0	32.0	33.0					7																	23145647		2202	4298	6500	23112172	SO:0001582	initiator_codon_variant	55975	exon1				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.2T>G	7.37:g.23145647T>G	ENSP00000343273:p.Met1Arg	Somatic		Capture	SOLID	Phase_I	23112172	NM_001031710	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.135207	0.56828	.	.	ENSG00000122550	ENST00000538858;ENST00000536369;ENST00000339077;ENST00000322275	T;T	0.73575	-0.51;-0.76	4.82	3.65	0.41850	.	0.339300	0.33534	N	0.004814	T	0.68366	0.2993	.	.	.	0.80722	D	1	B;B	0.20164	0.042;0.036	B;B	0.25140	0.042;0.058	T	0.66945	-0.5795	9	0.87932	D	0	.	11.9688	0.53051	0.0:0.0:0.1453:0.8547	.	1;1	Q8IXQ5;Q8IXQ5-3	KLHL7_HUMAN;.	R	1	ENSP00000343273:M1R;ENSP00000323270:M1R	ENSP00000323270:M1R	M	+	2	0	KLHL7	23112172	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.811000	0.55620	0.935000	0.37341	0.482000	0.46254	ATG		0.612	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	Missense_Mutation
MPP6	51678	hgsc.bcm.edu	37	7	24703249	24703249	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:24703249A>G	ENST00000222644.5	+	6	942	c.692A>G	c.(691-693)gAc>gGc	p.D231G	MPP6_ENST00000396475.2_Missense_Mutation_p.D231G|MPP6_ENST00000409761.1_Missense_Mutation_p.D119G			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.D231G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CCATACAATGACAACCTAATA	0.323																																					p.D231G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A692G	7						.						108.0	111.0	110.0					7																	24703249		2203	4300	6503	24669774	SO:0001583	missense	51678	exon7			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.692A>G	7.37:g.24703249A>G	ENSP00000222644:p.Asp231Gly	Somatic		Capture	SOLID	Phase_I	24669774	NM_016447	B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.649381	0.87958	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	6.08	6.08	0.98989	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.64402	D	0.000016	T	0.37019	0.0988	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35375	-0.9791	10	0.87932	D	0	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	231	Q9NZW5	MPP6_HUMAN	G	231;119;231;231	ENSP00000222644:D231G;ENSP00000386262:D119G;ENSP00000379737:D231G;ENSP00000391020:D231G	ENSP00000222644:D231G	D	+	2	0	MPP6	24669774	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.339000	0.96797	2.333000	0.79357	0.482000	0.46254	GAC		0.323	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4		
OSBPL3	26031	hgsc.bcm.edu	37	7	24874237	24874237	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:24874237C>A	ENST00000313367.2	-	15	2065	c.1614G>T	c.(1612-1614)aaG>aaT	p.K538N	OSBPL3_ENST00000396429.1_Missense_Mutation_p.K502N|OSBPL3_ENST00000431825.2_Missense_Mutation_p.K471N|OSBPL3_ENST00000353930.1_Missense_Mutation_p.K502N|OSBPL3_ENST00000352860.1_Missense_Mutation_p.K507N|OSBPL3_ENST00000409069.1_Missense_Mutation_p.K471N|OSBPL3_ENST00000396431.1_Missense_Mutation_p.K507N	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	538					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.K538N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TGGACAGGTCCTTCCCGATGT	0.627																																					p.K502N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1506T	7						.						110.0	91.0	98.0					7																	24874237		2203	4300	6503	24840762	SO:0001583	missense	26031	exon14			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1614G>T	7.37:g.24874237C>A	ENSP00000315410:p.Lys538Asn	Somatic		Capture	SOLID	Phase_I	24840762	NM_145321	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198424	0.79015	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.85	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	H	0.97983	4.12	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.83275	0.888;0.944;0.987;0.994;0.996;0.996	T	0.79410	-0.1815	10	0.87932	D	0	-0.3256	9.9522	0.41645	0.0:0.7995:0.0:0.2005	.	471;502;471;507;502;538	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	N	538;507;502;471;507;502;471	ENSP00000315410:K538N;ENSP00000315331:K507N;ENSP00000315277:K502N;ENSP00000389779:K471N;ENSP00000379708:K507N;ENSP00000379706:K502N;ENSP00000386953:K471N	ENSP00000315410:K538N	K	-	3	2	OSBPL3	24840762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.916000	0.28651	2.775000	0.95449	0.467000	0.42956	AAG		0.627	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2		
HOXA2	3199	hgsc.bcm.edu	37	7	27140804	27140804	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:27140804C>A	ENST00000222718.5	-	2	982	c.672G>T	c.(670-672)gaG>gaT	p.E224D	HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	224					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E224D(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						CCTCGTCCTCCTCTACTTTCT	0.517																																					p.E224D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G672T	7						.						123.0	109.0	113.0					7																	27140804		2203	4300	6503	27107329	SO:0001583	missense	3199	exon2				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.672G>T	7.37:g.27140804C>A	ENSP00000222718:p.Glu224Asp	Somatic		Capture	SOLID	Phase_I	27107329	NM_006735	A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	C	4.962	0.178663	0.09443	.	.	ENSG00000105996	ENST00000222718	T	0.11063	2.81	5.18	3.36	0.38483	.	0.206211	0.50627	N	0.000119	T	0.08044	0.0201	L	0.43152	1.355	0.43953	D	0.99662	B	0.10296	0.003	B	0.04013	0.001	T	0.23976	-1.0173	10	0.15952	T	0.53	.	5.8818	0.18860	0.0:0.6317:0.1441:0.2242	.	224	O43364	HXA2_HUMAN	D	224	ENSP00000222718:E224D	ENSP00000222718:E224D	E	-	3	2	HOXA2	27107329	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	0.747000	0.26290	0.683000	0.31428	0.655000	0.94253	GAG		0.517	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2		
NEUROD6	63974	hgsc.bcm.edu	37	7	31378400	31378400	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:31378400G>A	ENST00000297142.3	-	2	805	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	161					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.F161F(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AGTTTTGGACGAATGTGAGCA	0.483																																					p.F161F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C483T	7						.						80.0	79.0	80.0					7																	31378400		2203	4300	6503	31344925	SO:0001819	synonymous_variant	63974	exon2			AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.483C>T	7.37:g.31378400G>A		Somatic		Capture	SOLID	Phase_I	31344925	NM_022728	Q548T9|Q9H3H6	Silent	SNP	ENST00000297142.3	37	CCDS5434.1																																																																																				0.483	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728	
PDE1C	5137	hgsc.bcm.edu	37	7	31887591	31887591	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:31887591T>A	ENST00000396191.1	-	9	1426	c.971A>T	c.(970-972)gAt>gTt	p.D324V	PDE1C_ENST00000396193.1_Missense_Mutation_p.D384V|PDE1C_ENST00000396182.2_Missense_Mutation_p.D324V|PDE1C_ENST00000321453.7_Missense_Mutation_p.D324V|PDE1C_ENST00000396184.3_Missense_Mutation_p.D324V	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	324	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.D324V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCTCCAGTCATCCTTTGAGAG	0.398																																					p.D324V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A971T	7						.						105.0	98.0	100.0					7																	31887591		2203	4300	6503	31854116	SO:0001583	missense	5137	exon9			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.971A>T	7.37:g.31887591T>A	ENSP00000379494:p.Asp324Val	Somatic		Capture	SOLID	Phase_I	31854116	NM_001191056	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854758	0.91355	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	6.06	6.06	0.98353	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.043268	0.85682	D	0.000000	D	0.88698	0.6507	M	0.79926	2.475	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.989;0.996;0.991	D	0.89965	0.4089	10	0.87932	D	0	.	16.286	0.82722	0.0:0.0:0.0:1.0	.	324;384;324	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	V	384;324;324;324;324	ENSP00000379496:D384V;ENSP00000379494:D324V;ENSP00000318105:D324V;ENSP00000379487:D324V;ENSP00000379485:D324V	ENSP00000318105:D324V	D	-	2	0	PDE1C	31854116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	GAT		0.398	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		
GLI3	2737	hgsc.bcm.edu	37	7	42011971	42011971	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:42011971G>T	ENST00000395925.3	-	13	2152	c.2068C>A	c.(2068-2070)Ctc>Atc	p.L690I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	690					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L690I(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTCACCTGGAGGCATTCTTCC	0.557									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.L690I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2068A	7						.						157.0	162.0	160.0					7																	42011971		2203	4300	6503	41978496	SO:0001583	missense	2737	exon13	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2068C>A	7.37:g.42011971G>T	ENSP00000379258:p.Leu690Ile	Somatic		Capture	SOLID	Phase_I	41978496	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343756	0.82022	.	.	ENSG00000106571	ENST00000395925	T	0.17213	2.29	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	M	0.84683	2.71	0.80722	D	1	B	0.27416	0.178	B	0.29524	0.103	T	0.14392	-1.0474	10	0.72032	D	0.01	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	690	P10071	GLI3_HUMAN	I	690	ENSP00000379258:L690I	ENSP00000379258:L690I	L	-	1	0	GLI3	41978496	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.012000	0.88631	2.804000	0.96469	0.655000	0.94253	CTC		0.557	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
GLI3	2737	hgsc.bcm.edu	37	7	42187877	42187877	+	Silent	SNP	G	G	A	rs140872736	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:42187877G>A	ENST00000395925.3	-	3	399	c.315C>T	c.(313-315)cgC>cgT	p.R105R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	105					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R105R(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACACCGTCCCGCGGTACGGCA	0.592									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G|||	2	0.000399361	0.0008	0.0014	5008	,	,		15218	0.0		0.0	False		,,,				2504	0.0				p.R105R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315T	7						.	G		3,4403	8.1+/-20.4	0,3,2200	88.0	63.0	72.0		315	-11.7	0.0	7	dbSNP_134	72	1,8599		0,1,4299	no	coding-synonymous	GLI3	NM_000168.5		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		105/1581	42187877	4,13002	2203	4300	6503	42154402	SO:0001819	synonymous_variant	2737	exon3	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.315C>T	7.37:g.42187877G>A		Somatic		Capture	SOLID	Phase_I	42154402	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				0.592	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
GLI3	2737	hgsc.bcm.edu	37	7	42187976	42187976	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:42187976A>G	ENST00000395925.3	-	3	300	c.216T>C	c.(214-216)agT>agC	p.S72S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	72					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AAGGTTCCTCACTGACTTTGC	0.522									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.S72S												.	.	0			c.T216C	7						.						152.0	123.0	133.0					7																	42187976		2203	4300	6503	42154501	SO:0001819	synonymous_variant	2737	exon3	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.216T>C	7.37:g.42187976A>G		Somatic		Capture	SOLID	Phase_I	42154501	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				0.522	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
C7orf25	79020	hgsc.bcm.edu	37	7	42949523	42949524	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	CT	CT	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:42949523_42949524delCT	ENST00000350427.4	-	2	1251_1252	c.976_977delAG	c.(976-978)aggfs	p.R326fs	C7orf25_ENST00000438029.1_Frame_Shift_Del_p.R326fs|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Frame_Shift_Del_p.R326fs|C7orf25_ENST00000431882.2_Frame_Shift_Del_p.R384fs			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	326								p.R326fs*6(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CACAGTGGCCCTCTCTCTCTCC	0.455																																					p.326_326del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.976_977del	7						.																																			42916049	SO:0001589	frameshift_variant	79020	exon2			BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.976_977delAG	7.37:g.42949531_42949532delCT	ENSP00000343364:p.Arg326fs	Somatic		Capture	SOLID	Phase_I	42916048	NM_024054	A4D1V2|J3KR36|Q9H779	Frame_Shift_Del	DEL	ENST00000350427.4	37	CCDS5466.1																																																																																				0.455	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054	
AEBP1	165	hgsc.bcm.edu	37	7	44153334	44153334	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:44153334G>A	ENST00000223357.3	+	21	3256	c.2951G>A	c.(2950-2952)cGc>cAc	p.R984H	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.R559H	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	984	Interaction with PTEN. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R984H(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ATCCTGGCTCGCTCCAACTGG	0.617																																					p.R984H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2951A	7						.						122.0	113.0	116.0					7																	44153334		2203	4300	6503	44119859	SO:0001583	missense	165	exon21			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2951G>A	7.37:g.44153334G>A	ENSP00000223357:p.Arg984His	Somatic		Capture	SOLID	Phase_I	44119859	NM_001129	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702610	0.88924	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.14516	2.5;2.5	5.22	5.22	0.72569	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.064929	0.64402	D	0.000010	T	0.36496	0.0969	M	0.61703	1.905	0.51012	D	0.9999	D;D	0.89917	1.0;1.0	D;D	0.71184	0.909;0.972	T	0.05750	-1.0866	10	0.72032	D	0.01	-32.9759	18.7478	0.91800	0.0:0.0:1.0:0.0	.	559;984	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	H	984;559	ENSP00000223357:R984H;ENSP00000398878:R559H	ENSP00000223357:R984H	R	+	2	0	AEBP1	44119859	1.000000	0.71417	0.995000	0.50966	0.929000	0.56500	4.950000	0.63603	2.602000	0.87976	0.557000	0.71058	CGC		0.617	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129	
TMED4	222068	hgsc.bcm.edu	37	7	44621355	44621355	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:44621355G>A	ENST00000457408.2	-	2	280	c.228C>T	c.(226-228)ggC>ggT	p.G76G	TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000481238.1_Silent_p.G76G|TMED4_ENST00000289577.5_Silent_p.G76G	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	76	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.G76G(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCACGTGCATGCCCAGGCCAG	0.622																																					p.G76G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C228T	7						.						101.0	99.0	100.0					7																	44621355		2203	4300	6503	44587880	SO:0001819	synonymous_variant	222068	exon2			BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.228C>T	7.37:g.44621355G>A		Somatic		Capture	SOLID	Phase_I	44587880	NM_182547	A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Silent	SNP	ENST00000457408.2	37	CCDS5493.1																																																																																				0.622	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251290.1	NM_182547	
FIGNL1	63979	hgsc.bcm.edu	37	7	50513124	50513124	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:50513124C>T	ENST00000419119.1	-	2	3415	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	FIGNL1_ENST00000433017.1_Missense_Mutation_p.R621H|FIGNL1_ENST00000356889.4_Missense_Mutation_p.R621H|FIGNL1_ENST00000395556.2_Missense_Mutation_p.R621H			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	621					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.R621H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGTAAACTGCGAATAGGACC	0.433																																					p.R621H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1862A	7						.						90.0	86.0	87.0					7																	50513124		2203	4300	6503	50480618	SO:0001583	missense	63979	exon4			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1862G>A	7.37:g.50513124C>T	ENSP00000410811:p.Arg621His	Somatic		Capture	SOLID	Phase_I	50480618	NM_001042762	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172098	0.78452	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.98314	0.9441	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98816	1.0745	10	0.51188	T	0.08	-6.7561	14.6546	0.68823	0.0:0.9312:0.0:0.0688	.	621	Q6PIW4	FIGL1_HUMAN	H	621	ENSP00000349356:R621H;ENSP00000378924:R621H;ENSP00000399997:R621H;ENSP00000410811:R621H	ENSP00000349356:R621H	R	-	2	0	FIGNL1	50480618	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.079000	0.71291	1.636000	0.50526	-0.136000	0.14681	CGC		0.433	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762	
TBL2	26608	hgsc.bcm.edu	37	7	72985637	72985637	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:72985637T>C	ENST00000305632.5	-	6	1001	c.760A>G	c.(760-762)Aag>Gag	p.K254E	TBL2_ENST00000432538.1_Missense_Mutation_p.K218E|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	254							poly(A) RNA binding (GO:0044822)	p.K254E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCCAAACCTTCACATCTGGG	0.512																																					p.K254E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A760G	7						.						76.0	66.0	70.0					7																	72985637		2203	4300	6503	72623573	SO:0001583	missense	26608	exon6			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.760A>G	7.37:g.72985637T>C	ENSP00000307260:p.Lys254Glu	Somatic		Capture	SOLID	Phase_I	72623573	NM_012453	Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.504693	0.85176	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538	T;T	0.31769	1.48;1.48	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.041854	0.85682	D	0.000000	T	0.56746	0.2006	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.72338	0.977;0.963	T	0.62096	-0.6926	10	0.72032	D	0.01	-24.8563	13.4486	0.61155	0.0:0.0:0.0:1.0	.	218;254	E9PF19;Q9Y4P3	.;TBL2_HUMAN	E	254;254;218	ENSP00000307260:K254E;ENSP00000413979:K218E	ENSP00000307260:K254E	K	-	1	0	TBL2	72623573	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	7.525000	0.81892	2.275000	0.75901	0.459000	0.35465	AAG		0.512	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453	
WBSCR22	114049	hgsc.bcm.edu	37	7	73100970	73100970	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:73100970C>T	ENST00000265758.2	+	3	149	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	WBSCR22_ENST00000423166.2_Missense_Mutation_p.R54W|WBSCR22_ENST00000464615.1_3'UTR|WBSCR22_ENST00000423497.1_Missense_Mutation_p.R31W	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	31					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.R31W(1)		autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				TACCAGCTCACGGATGATTGA	0.448																																					p.R31W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C91T	7						.						170.0	170.0	170.0					7																	73100970		2203	4300	6503	72738906	SO:0001583	missense	114049	exon3			AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.91C>T	7.37:g.73100970C>T	ENSP00000265758:p.Arg31Trp	Somatic		Capture	SOLID	Phase_I	72738906	NM_017528	A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP	ENST00000265758.2	37	CCDS5557.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216565	0.58452	.	.	ENSG00000071462	ENST00000265758;ENST00000423166;ENST00000423497	T;T	0.69806	-0.43;-0.43	4.93	4.04	0.47022	.	0.122070	0.56097	D	0.000025	T	0.82148	0.4974	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84807	0.0788	10	0.87932	D	0	-21.6048	12.3543	0.55165	0.17:0.83:0.0:0.0	.	31;31	C9K060;O43709	.;WBS22_HUMAN	W	31;54;31	ENSP00000265758:R31W;ENSP00000401191:R31W	ENSP00000265758:R31W	R	+	1	2	WBSCR22	72738906	0.987000	0.35691	0.676000	0.29932	0.252000	0.25951	2.784000	0.47774	1.272000	0.44329	0.563000	0.77884	CGG		0.448	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1		
CLIP2	7461	hgsc.bcm.edu	37	7	73803556	73803558	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	TCC	TCC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:73803556_73803558delTCC	ENST00000395060.1	+	12	2687_2689	c.2687_2689delTCC	c.(2686-2691)gtcctc>gtc	p.L897del	CLIP2_ENST00000223398.6_In_Frame_Del_p.L897del|CLIP2_ENST00000361545.5_In_Frame_Del_p.L862del			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	897						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)		p.L862delL(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGCCAGCTAGTCCTCATCAGCCA	0.67																																					p.896_897del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.2687_2689del	7						.																																			73441494	SO:0001651	inframe_deletion	7461	exon13			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2687_2689delTCC	7.37:g.73803556_73803558delTCC	ENSP00000378500:p.Leu897del	Somatic		Capture	SOLID	Phase_I	73441492	NM_003388	O14527|O43611	In_Frame_Del	DEL	ENST00000395060.1	37	CCDS5569.1																																																																																				0.670	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388	
SEMA3A	10371	hgsc.bcm.edu	37	7	83675757	83675757	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:83675757C>T	ENST00000265362.4	-	6	864	c.550G>A	c.(550-552)Gga>Aga	p.G184R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G184R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	184	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.G184R(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TATAATTCTCCATCTGTGTTG	0.393																																					p.G184R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G550A	7						.						157.0	145.0	149.0					7																	83675757		2203	4300	6503	83513693	SO:0001583	missense	10371	exon6			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.550G>A	7.37:g.83675757C>T	ENSP00000265362:p.Gly184Arg	Somatic		Capture	SOLID	Phase_I	83513693	NM_006080		Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416937	0.83449	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.27720	1.65;1.65	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	M	0.82433	2.59	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.64343	-0.6430	10	0.66056	D	0.02	.	20.2381	0.98363	0.0:1.0:0.0:0.0	.	184	Q14563	SEM3A_HUMAN	R	184	ENSP00000265362:G184R;ENSP00000415260:G184R	ENSP00000265362:G184R	G	-	1	0	SEMA3A	83513693	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.433000	0.80362	2.779000	0.95612	0.650000	0.86243	GGA		0.393	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	
SAMD9	54809	hgsc.bcm.edu	37	7	92731616	92731616	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:92731616T>G	ENST00000379958.2	-	3	4064	c.3795A>C	c.(3793-3795)aaA>aaC	p.K1265N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1265						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.K1265N(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAAAGGACTTTTTCAAAGAAA	0.328																																					p.K1265N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3795C	7						.						40.0	47.0	45.0					7																	92731616		2174	4282	6456	92569552	SO:0001583	missense	54809	exon2			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3795A>C	7.37:g.92731616T>G	ENSP00000369292:p.Lys1265Asn	Somatic		Capture	SOLID	Phase_I	92569552	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.636637	0.47049	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.27256	1.68;2.19	4.43	3.27	0.37495	.	0.000000	0.64402	D	0.000001	T	0.39911	0.1096	L	0.58810	1.83	0.36508	D	0.86944	D	0.76494	0.999	D	0.69824	0.966	T	0.41448	-0.9508	10	0.45353	T	0.12	.	6.4201	0.21738	0.0:0.1973:0.0:0.8027	.	1265	Q5K651	SAMD9_HUMAN	N	1265	ENSP00000369292:K1265N;ENSP00000414529:K1265N	ENSP00000369292:K1265N	K	-	3	2	SAMD9	92569552	0.025000	0.19082	0.981000	0.43875	0.837000	0.47467	0.165000	0.16564	0.740000	0.32651	0.438000	0.28831	AAA		0.328	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
COL1A2	1278	hgsc.bcm.edu	37	7	94050366	94050366	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:94050366G>T	ENST00000297268.6	+	38	2812	c.2341G>T	c.(2341-2343)Ggc>Tgc	p.G781C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	781			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.G781C(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGATGGAGGCCCCCCTGT	0.418										HNSCC(75;0.22)																											p.G781C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2341T	7						.						160.0	158.0	158.0					7																	94050366		2203	4300	6503	93888302	SO:0001583	missense	1278	exon38			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2341G>T	7.37:g.94050366G>T	ENSP00000297268:p.Gly781Cys	Somatic		Capture	SOLID	Phase_I	93888302	NM_000089	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175921	0.94846	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.97089	-4.24	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98459	1.0595	10	0.87932	D	0	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	781	P08123	CO1A2_HUMAN	C	781;782	ENSP00000297268:G781C	ENSP00000297268:G781C	G	+	1	0	COL1A2	93888302	1.000000	0.71417	0.993000	0.49108	0.923000	0.55619	9.568000	0.98166	2.824000	0.97209	0.655000	0.94253	GGC		0.418	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
NPTX2	4885	hgsc.bcm.edu	37	7	98257875	98257875	+	Silent	SNP	C	C	T	rs199857878		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:98257875C>T	ENST00000265634.3	+	5	1395	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	410	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.V410V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACAATAACGTCGATGTGTTCG	0.582																																					p.V410V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1230T	7						.	C		0,4406		0,0,2203	75.0	65.0	68.0		1230	-7.4	0.7	7		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPTX2	NM_002523.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		410/432	98257875	1,13005	2203	4300	6503	98095811	SO:0001819	synonymous_variant	4885	exon5				CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1230C>T	7.37:g.98257875C>T		Somatic		Capture	SOLID	Phase_I	98095811	NM_002523	A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	CCDS5657.1																																																																																				0.582	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	
ZKSCAN1	7586	hgsc.bcm.edu	37	7	99631578	99631578	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:99631578A>G	ENST00000324306.6	+	6	1684	c.1450A>G	c.(1450-1452)Acg>Gcg	p.T484A	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.T271A|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.T448A	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T484A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAGAATTCACACGGGGGAGAA	0.478																																					p.T484A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1450G	7						.						78.0	86.0	83.0					7																	99631578		2203	4300	6503	99469514	SO:0001583	missense	7586	exon6			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1450A>G	7.37:g.99631578A>G	ENSP00000323148:p.Thr484Ala	Somatic		Capture	SOLID	Phase_I	99469514	NM_003439	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512957	0.85389	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.26518	1.73;1.73;1.73	5.08	5.08	0.68730	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.37046	0.0989	L	0.28274	0.84	0.49051	D	0.999746	D	0.67145	0.996	D	0.77004	0.989	T	0.19811	-1.0294	10	0.72032	D	0.01	.	13.1347	0.59403	1.0:0.0:0.0:0.0	.	484	P17029	ZKSC1_HUMAN	A	484;448;271	ENSP00000323148:T484A;ENSP00000409172:T448A;ENSP00000443508:T271A	ENSP00000323148:T484A	T	+	1	0	ZKSCAN1	99469514	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	3.483000	0.53194	2.261000	0.74972	0.460000	0.39030	ACG		0.478	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439	
MCM7	4176	hgsc.bcm.edu	37	7	99695277	99695277	+	Silent	SNP	G	G	A	rs146058965		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:99695277G>A	ENST00000303887.5	-	9	1722	c.1077C>T	c.(1075-1077)gtC>gtT	p.V359V	MCM7_ENST00000354230.3_Silent_p.V183V|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	359	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.V359V(1)|p.V183V(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCACACCCCCGACTAGCAGGA	0.502																																					p.V183V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C549T	7						.	C	,	0,4406		0,0,2203	253.0	257.0	256.0		1077,549	3.1	1.0	7	dbSNP_134	256	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous	MCM7	NM_005916.3,NM_182776.1	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	359/720,183/544	99695277	2,13004	2203	4300	6503	99533213	SO:0001819	synonymous_variant	4176	exon8				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1077C>T	7.37:g.99695277G>A		Somatic		Capture	SOLID	Phase_I	99533213	NM_182776	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	ENST00000303887.5	37	CCDS5683.1																																																																																				0.502	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		
GAL3ST4	79690	hgsc.bcm.edu	37	7	99758055	99758055	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:99758055G>A	ENST00000360039.4	-	4	1349	c.957C>T	c.(955-957)tgC>tgT	p.C319C	GAL3ST4_ENST00000411994.1_Missense_Mutation_p.A218V|C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.A218V|GAL3ST4_ENST00000413800.1_Silent_p.C319C|GAL3ST4_ENST00000426974.2_Silent_p.C257C|C7orf43_ENST00000419841.1_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	319					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.C319C(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTAGACCCCAGCACAGGGCAT	0.572																																					p.C319C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C957T	7						.						99.0	96.0	97.0					7																	99758055		2203	4300	6503	99595991	SO:0001819	synonymous_variant	79690	exon4			AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.957C>T	7.37:g.99758055G>A		Somatic		Capture	SOLID	Phase_I	99595991	NM_024637	A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Silent	SNP	ENST00000360039.4	37	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410991	0.42817	.	.	ENSG00000197093	ENST00000423751;ENST00000411994	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	T	0.75679	0.3882	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79115	-0.1936	5	0.87932	D	0	-12.9844	15.4362	0.75149	0.0:0.0:1.0:0.0	.	.	.	.	V	218	.	ENSP00000414733:A218V	A	-	2	0	GAL3ST4	99595991	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.704000	0.54815	2.518000	0.84900	0.511000	0.50034	GCT		0.572	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637	
PTPRN2	5799	hgsc.bcm.edu	37	7	157997893	157997893	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr7:157997893A>G	ENST00000389418.4	-	4	359	c.350T>C	c.(349-351)cTg>cCg	p.L117P	PTPRN2_ENST00000409483.1_Missense_Mutation_p.L79P|PTPRN2_ENST00000404321.2_Missense_Mutation_p.L140P|PTPRN2_ENST00000389413.3_Missense_Mutation_p.L117P|PTPRN2_ENST00000389416.4_Missense_Mutation_p.L100P	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	117					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L117P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGACGCCTCAGGTAGGTTTT	0.483																																					p.L117P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T350C	7						.						138.0	118.0	125.0					7																	157997893		2203	4300	6503	157690654	SO:0001583	missense	5799	exon4			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.350T>C	7.37:g.157997893A>G	ENSP00000374069:p.Leu117Pro	Somatic		Capture	SOLID	Phase_I	157690654	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	A	9.665	1.145249	0.21288	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02974	4.19;4.09;4.1;4.12;4.11	5.2	-1.97	0.07503	.	.	.	.	.	T	0.01835	0.0058	N	0.20685	0.6	0.19300	N	0.999977	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.002;0.001;0.001	T	0.46693	-0.9173	9	0.30078	T	0.28	.	4.7348	0.12982	0.5101:0.0:0.2605:0.2293	.	140;79;117;100;117	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	P	79;117;100;117;140	ENSP00000387114:L79P;ENSP00000374064:L117P;ENSP00000374067:L100P;ENSP00000374069:L117P;ENSP00000385464:L140P	ENSP00000374064:L117P	L	-	2	0	PTPRN2	157690654	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.559000	0.05971	-0.204000	0.10235	-0.468000	0.05107	CTG		0.483	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
STK35	140901	hgsc.bcm.edu	37	20	2097673	2097673	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:2097673G>A	ENST00000381482.3	+	3	1525	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	STK35_ENST00000246032.3_Silent_p.S285S|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	418	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S418S(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCTGCGGTTCGGACTTCTACA	0.517																																					p.S418S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1254A	20						.						61.0	55.0	57.0					20																	2097673		2203	4300	6503	2045673	SO:0001819	synonymous_variant	140901	exon3			AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1254G>A	20.37:g.2097673G>A		Somatic		Capture	SOLID	Phase_I	2045673	NM_080836	B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Silent	SNP	ENST00000381482.3	37	CCDS13024.2																																																																																				0.517	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836	
SEC23B	10483	hgsc.bcm.edu	37	20	18491585	18491585	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:18491585G>A	ENST00000336714.3	+	2	538	c.106G>A	c.(106-108)Gta>Ata	p.V36I	SEC23B_ENST00000377465.1_Missense_Mutation_p.V36I|SEC23B_ENST00000262544.2_Missense_Mutation_p.V36I|SEC23B_ENST00000377475.3_Missense_Mutation_p.V36I	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	36					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.V36I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AAGAATGGTTGTACCCCTGGC	0.502																																					p.V36I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G106A	20						.						173.0	150.0	158.0					20																	18491585		2203	4300	6503	18439585	SO:0001583	missense	10483	exon2			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.106G>A	20.37:g.18491585G>A	ENSP00000338844:p.Val36Ile	Somatic		Capture	SOLID	Phase_I	18439585	NM_032986	D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972319	0.74246	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	L	0.41356	1.27	0.80722	D	1	B;B	0.26635	0.155;0.023	B;B	0.28011	0.085;0.034	T	0.73720	-0.3894	10	0.30078	T	0.28	-23.6978	17.6495	0.88159	0.0:0.0:1.0:0.0	.	36;36	B4DJW8;Q15437	.;SC23B_HUMAN	I	36	ENSP00000403971:V36I;ENSP00000338844:V36I;ENSP00000262544:V36I;ENSP00000366695:V36I;ENSP00000366685:V36I	ENSP00000262544:V36I	V	+	1	0	SEC23B	18439585	1.000000	0.71417	0.950000	0.38849	0.985000	0.73830	9.601000	0.98297	2.657000	0.90304	0.655000	0.94253	GTA		0.502	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5		
ACSS1	84532	hgsc.bcm.edu	37	20	25003590	25003590	+	Missense_Mutation	SNP	C	C	T	rs371878838		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:25003590C>T	ENST00000323482.4	-	5	1025	c.946G>A	c.(946-948)Gcc>Acc	p.A316T	ACSS1_ENST00000432802.2_Missense_Mutation_p.A316T|ACSS1_ENST00000542618.1_Missense_Mutation_p.A195T|ACSS1_ENST00000537502.1_Missense_Mutation_p.A233T	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	316					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.A316T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGAGTCAGGGCGGCATAGAGC	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18775	0.0		0.0	False		,,,				2504	0.0				p.A316T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G946A	20						.	C	THR/ALA	0,4406		0,0,2203	62.0	48.0	52.0		946	5.6	0.1	20		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSS1	NM_032501.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	316/690	25003590	1,13005	2203	4300	6503	24951590	SO:0001583	missense	84532	exon5				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.946G>A	20.37:g.25003590C>T	ENSP00000316924:p.Ala316Thr	Somatic		Capture	SOLID	Phase_I	24951590	NM_032501	B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797922	0.31777	0.0	1.16E-4	ENSG00000154930	ENST00000323482;ENST00000537502;ENST00000432802;ENST00000542618	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.57	5.57	0.84162	AMP-dependent synthetase/ligase (1);	0.109437	0.64402	D	0.000007	T	0.47783	0.1464	L	0.39633	1.23	0.52099	D	0.999949	P;P;P	0.45428	0.807;0.84;0.858	P;P;B	0.49953	0.493;0.627;0.349	T	0.32322	-0.9911	10	0.41790	T	0.15	-27.8893	18.1312	0.89602	0.0:1.0:0.0:0.0	.	316;316;233	Q9NUB1-2;Q9NUB1;Q6ZV30	.;ACS2L_HUMAN;.	T	316;233;316;195	ENSP00000316924:A316T;ENSP00000439304:A233T;ENSP00000388793:A316T;ENSP00000437657:A195T	ENSP00000316924:A316T	A	-	1	0	ACSS1	24951590	0.984000	0.35163	0.139000	0.22197	0.004000	0.04260	2.700000	0.47085	2.642000	0.89623	0.462000	0.41574	GCC		0.642	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501	
ZNF337	26152	hgsc.bcm.edu	37	20	25655786	25655786	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:25655786T>C	ENST00000376436.1	-	4	2677	c.2138A>G	c.(2137-2139)tAt>tGt	p.Y713C	ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.Y681C|ZNF337_ENST00000252979.5_Missense_Mutation_p.Y713C|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	713					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y713C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGGCATTCATAAGGCCTCTC	0.438																																					p.Y713C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2138G	20						.						248.0	238.0	241.0					20																	25655786		2203	4300	6503	25603786	SO:0001583	missense	26152	exon5				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.2138A>G	20.37:g.25655786T>C	ENSP00000365619:p.Tyr713Cys	Somatic		Capture	SOLID	Phase_I	25603786	NM_015655	B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	14.18	2.457435	0.43634	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.25414	1.8;1.8;1.8	1.33	1.33	0.21861	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42877	0.1222	M	0.86343	2.81	0.09310	N	1	D;D	0.71674	0.998;0.998	P;P	0.56612	0.802;0.802	T	0.28839	-1.0031	9	0.72032	D	0.01	.	3.4946	0.07650	0.3559:0.0:0.0:0.6441	.	681;713	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	C	713;713;601;681	ENSP00000365619:Y713C;ENSP00000252979:Y713C;ENSP00000442181:Y681C	ENSP00000252979:Y713C	Y	-	2	0	ZNF337	25603786	0.000000	0.05858	0.001000	0.08648	0.788000	0.44548	-0.786000	0.04623	0.864000	0.35578	0.248000	0.18094	TAT		0.438	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1		
TPX2	22974	hgsc.bcm.edu	37	20	30385261	30385261	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:30385261A>G	ENST00000300403.6	+	16	2416	c.1888A>G	c.(1888-1890)Aac>Gac	p.N630D	TPX2_ENST00000340513.4_Missense_Mutation_p.N666D	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	630					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GGCTCGTCCAAACACCGTCAT	0.443																																					p.N630D												.	.	0			c.A1888G	20						.						184.0	187.0	186.0					20																	30385261		2203	4300	6503	29848922	SO:0001583	missense	22974	exon16			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1888A>G	20.37:g.30385261A>G	ENSP00000300403:p.Asn630Asp	Somatic		Capture	SOLID	Phase_I	29848922	NM_012112	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454631	0.84209	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.32023	1.47	5.93	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.76494	0.999;0.997	P;P	0.62885	0.874;0.908	T	0.37502	-0.9703	10	0.12430	T	0.62	-18.8636	11.1169	0.48266	0.9282:0.0:0.0718:0.0	.	666;630	Q96RR5;Q9ULW0	.;TPX2_HUMAN	D	630;666	ENSP00000341145:N666D	ENSP00000300403:N630D	N	+	1	0	TPX2	29848922	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	8.203000	0.89739	1.075000	0.40932	0.533000	0.62120	AAC		0.443	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		
ASXL1	171023	hgsc.bcm.edu	37	20	31017156	31017156	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:31017156A>T	ENST00000375687.4	+	7	911	c.487A>T	c.(487-489)Aaa>Taa	p.K163*	ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000306058.5_Nonsense_Mutation_p.K158*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	163					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAAACAAAAGAAAAAGACTGG	0.498			"""F, N, Mis"""		"""MDS, CMML"""																																p.K163X			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	.	0			c.A487T	20						.						72.0	69.0	70.0					20																	31017156		2203	4300	6503	30480817	SO:0001587	stop_gained	171023	exon6			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.487A>T	20.37:g.31017156A>T	ENSP00000364839:p.Lys163*	Somatic		Capture	SOLID	Phase_I	30480817	NM_015338	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	A	39	7.408608	0.98265	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	4.58	4.58	0.56647	.	0.051506	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6002	14.4294	0.67238	1.0:0.0:0.0:0.0	.	.	.	.	X	163;163;163;153;158	.	ENSP00000305119:K158X	K	+	1	0	ASXL1	30480817	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.480000	0.90434	2.059000	0.61396	0.459000	0.35465	AAA		0.498	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
RALY	22913	hgsc.bcm.edu	37	20	32664576	32664576	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:32664576C>T	ENST00000246194.3	+	7	1115	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	RALY_ENST00000375114.3_Silent_p.L189L|RALY_ENST00000493399.1_3'UTR	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	205					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L205L(1)		kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CGATGCCCTGCTGAGCCGCTT	0.587																																					p.L205L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C613T	20						.						70.0	55.0	60.0					20																	32664576		2203	4300	6503	32128237	SO:0001819	synonymous_variant	22913	exon7			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.613C>T	20.37:g.32664576C>T		Somatic		Capture	SOLID	Phase_I	32128237	NM_016732	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Silent	SNP	ENST00000246194.3	37	CCDS13230.1																																																																																				0.587	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1		
EIF6	3692	hgsc.bcm.edu	37	20	33868504	33868504	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:33868504T>C	ENST00000374450.3	-	4	586	c.322A>G	c.(322-324)Acc>Gcc	p.T108A	MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_5'Flank|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000456350.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|EIF6_ENST00000374436.3_Missense_Mutation_p.T108A|EIF6_ENST00000374443.3_Intron|EIF6_ENST00000462894.1_Intron|MMP24-AS1_ENST00000435366.1_RNA	NM_002212.3	NP_002203.1			eukaryotic translation initiation factor 6									p.T108A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTGCAGGTGGTGACATTGCCC	0.582																																					p.T108A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A322G	20						.						171.0	127.0	142.0					20																	33868504		2203	4300	6503	33331918	SO:0001583	missense	3692	exon4			Y11435	CCDS13249.1, CCDS13250.1	20q11.2	2008-01-18	2007-07-27	2007-07-27	ENSG00000242372	ENSG00000242372			6159	protein-coding gene	gene with protein product		602912	"""integrin beta 4 binding protein"""	EIF3A, ITGB4BP		9374518, 9740680	Standard	NM_181468		Approved	p27BBP, b(2)gcn	uc002xbz.2	P56537	OTTHUMG00000032328	ENST00000374450.3:c.322A>G	20.37:g.33868504T>C	ENSP00000363574:p.Thr108Ala	Somatic		Capture	SOLID	Phase_I	33331918	NM_002212		Missense_Mutation	SNP	ENST00000374450.3	37	CCDS13249.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783242	0.49891	.	.	ENSG00000242372	ENST00000374436;ENST00000374450;ENST00000456600	.	.	.	4.75	3.64	0.41730	.	0.222920	0.46758	N	0.000270	T	0.26159	0.0638	N	0.14661	0.345	0.28702	N	0.904018	B	0.09022	0.002	B	0.16722	0.016	T	0.20605	-1.0270	9	0.87932	D	0	-9.3547	9.5751	0.39452	0.0:0.0842:0.0:0.9158	.	108	P56537	IF6_HUMAN	A	108	.	ENSP00000363559:T108A	T	-	1	0	EIF6	33331918	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.193000	0.50997	0.799000	0.34018	0.454000	0.30748	ACC		0.582	EIF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078848.3	NM_002212	
EPB41L1	2036	hgsc.bcm.edu	37	20	34807701	34807701	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:34807701C>A	ENST00000338074.2	+	19	2535	c.2374C>A	c.(2374-2376)Ctc>Atc	p.L792I	EPB41L1_ENST00000373941.1_Missense_Mutation_p.L791I|EPB41L1_ENST00000373950.2_Missense_Mutation_p.L683I|EPB41L1_ENST00000202028.5_Missense_Mutation_p.L690I|EPB41L1_ENST00000441639.1_Missense_Mutation_p.L690I|EPB41L1_ENST00000373946.3_Missense_Mutation_p.L612I	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	792	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.L792I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GAAAGATGTCCTCACCAGCAC	0.622																																					p.L792I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2374A	20						.						115.0	102.0	106.0					20																	34807701		2203	4300	6503	34271115	SO:0001583	missense	2036	exon19			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2374C>A	20.37:g.34807701C>A	ENSP00000337168:p.Leu792Ile	Somatic		Capture	SOLID	Phase_I	34271115	NM_012156	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.02|14.02	2.410643|2.410643	0.42715|0.42715	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941;ENST00000454226|ENST00000397315	T;T;T;T;T;T;T|.	0.81078|.	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45|.	4.46|4.46	4.46|4.46	0.54185|0.54185	Band 4.1, C-terminal (1);|.	.|.	.|.	.|.	.|.	T|T	0.45337|0.45337	0.1337|0.1337	N|N	0.22421|0.22421	0.69|0.69	0.33019|0.33019	D|D	0.528654|0.528654	B;D;B;B;B|.	0.57257|.	0.166;0.979;0.137;0.149;0.137|.	B;P;B;B;B|.	0.45276|.	0.138;0.475;0.052;0.142;0.058|.	T|T	0.61043|0.61043	-0.7142|-0.7142	9|6	0.49607|0.87932	T|D	0.09|0	.|.	14.4213|14.4213	0.67185|0.67185	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	792;612;683;683;690|.	Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2|.	E41L1_HUMAN;.;.;.;.|.	I|H	690;683;683;690;612;792;791;153|766	ENSP00000202028:L690I;ENSP00000363061:L683I;ENSP00000399214:L690I;ENSP00000363057:L612I;ENSP00000337168:L792I;ENSP00000363052:L791I;ENSP00000388281:L153I|.	ENSP00000202028:L690I|ENSP00000380482:P766H	L|P	+|+	1|2	0|0	EPB41L1|EPB41L1	34271115|34271115	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.798000|2.798000	0.47884|0.47884	2.324000|2.324000	0.78689|0.78689	0.462000|0.462000	0.41574|0.41574	CTC|CCT		0.622	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156	
TGIF2	60436	hgsc.bcm.edu	37	20	35219827	35219827	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:35219827C>T	ENST00000373874.2	+	3	906	c.707C>T	c.(706-708)cCc>cTc	p.P236L	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.P236L|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	236	Repressive function.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P236L(1)		cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TCTGAAAATCCCCAGTAGGCA	0.532																																					p.P236L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C707T	20						.						107.0	108.0	108.0					20																	35219827		2189	4260	6449	34653241	SO:0001583	missense	60436	exon3			AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"""Homeoboxes / TALE class"""	15764	protein-coding gene	gene with protein product		607294	"""TGFB-induced factor 2 (TALE family homeobox)"""			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.707C>T	20.37:g.35219827C>T	ENSP00000362981:p.Pro236Leu	Somatic		Capture	SOLID	Phase_I	34653241	NM_001199513	B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	ENST00000373874.2	37	CCDS13278.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886317	0.51908	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	T;T	0.64618	-0.11;-0.11	5.5	5.5	0.81552	.	0.682217	0.14127	N	0.339651	T	0.53546	0.1803	L	0.36672	1.1	0.80722	D	1	B	0.18013	0.025	B	0.18263	0.021	T	0.52223	-0.8604	10	0.72032	D	0.01	-20.3466	11.4582	0.50193	0.0:0.9171:0.0:0.0829	.	236	Q9GZN2	TGIF2_HUMAN	L	236	ENSP00000362981:P236L;ENSP00000362979:P236L	ENSP00000362979:P236L	P	+	2	0	TGIF2	34653241	0.201000	0.23410	1.000000	0.80357	0.932000	0.56968	0.327000	0.19663	2.569000	0.86673	0.561000	0.74099	CCC		0.532	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079004.2	NM_021809	
SRC	6714	hgsc.bcm.edu	37	20	36022370	36022370	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:36022370G>A	ENST00000373578.2	+	6	772	c.423G>A	c.(421-423)gcG>gcA	p.A141A	SRC_ENST00000373558.2_Silent_p.A147A|SRC_ENST00000373567.2_Silent_p.A141A|SRC_ENST00000358208.4_Silent_p.A141A|SRC_ENST00000360723.4_Silent_p.A147A|SRC_ENST00000445403.1_Silent_p.A141A	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	141	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)	p.A141A(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	ACTACGTGGCGCCCTCCGACT	0.637																																					p.A141A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G423A	20						.						63.0	51.0	55.0					20																	36022370		2203	4300	6503	35455784	SO:0001819	synonymous_variant	6714	exon6			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.423G>A	20.37:g.36022370G>A		Somatic		Capture	SOLID	Phase_I	35455784	NM_005417	E1P5V4|Q76P87|Q86VB9|Q9H5A8	Silent	SNP	ENST00000373578.2	37	CCDS13294.1																																																																																				0.637	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417	
KIAA1755	85449	hgsc.bcm.edu	37	20	36842036	36842036	+	Missense_Mutation	SNP	C	C	G	rs564034366		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:36842036C>G	ENST00000279024.4	-	14	3282	c.3011G>C	c.(3010-3012)cGa>cCa	p.R1004P		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1004										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AGATGCCAGTCGCTGCAGGTA	0.667																																					p.R1004P												.	.	0			c.G3011C	20						.						25.0	23.0	23.0					20																	36842036		2203	4300	6503	36275450	SO:0001583	missense	85449	exon14			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3011G>C	20.37:g.36842036C>G	ENSP00000279024:p.Arg1004Pro	Somatic		Capture	SOLID	Phase_I	36275450	NM_001029864	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341077	0.81911	.	.	ENSG00000149633	ENST00000279024	T	0.09350	2.99	5.29	5.29	0.74685	.	0.000000	0.42682	D	0.000666	T	0.31949	0.0813	M	0.71581	2.175	0.44500	D	0.997448	D	0.89917	1.0	D	0.91635	0.999	T	0.00645	-1.1629	10	0.56958	D	0.05	.	14.2988	0.66331	0.0:1.0:0.0:0.0	.	1004	Q5JYT7	K1755_HUMAN	P	1004	ENSP00000279024:R1004P	ENSP00000279024:R1004P	R	-	2	0	KIAA1755	36275450	0.989000	0.36119	0.990000	0.47175	0.995000	0.86356	2.175000	0.42491	2.756000	0.94617	0.561000	0.74099	CGA		0.667	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864	
MAFB	9935	hgsc.bcm.edu	37	20	39317231	39317231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:39317231C>T	ENST00000373313.2	-	1	649	c.260G>A	c.(259-261)tGg>tAg	p.W87*	MAFB_ENST00000396967.1_Nonsense_Mutation_p.W87*	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	87					brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.W87*(1)		kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				GCTCGCCATCCAGTACAGATC	0.647			T	IGH@	MM																																p.W87X			Dom	yes		20	20q11.2-q13.1	9935	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G260A	20						.						97.0	87.0	90.0					20																	39317231		2203	4300	6503	38750645	SO:0001587	stop_gained	9935	exon1			AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"""Kreisler (mouse) maf-related leucine zipper homolog"""	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.260G>A	20.37:g.39317231C>T	ENSP00000362410:p.Trp87*	Somatic		Capture	SOLID	Phase_I	38750645	NM_005461	B3KNE1|Q9H1F1	Nonsense_Mutation	SNP	ENST00000373313.2	37	CCDS13311.1	.	.	.	.	.	.	.	.	.	.	c	33	5.212508	0.95069	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	.	.	.	4.61	4.61	0.57282	.	0.145730	0.49916	D	0.000121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6894	17.0777	0.86591	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000362410:W87X	W	-	2	0	MAFB	38750645	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.679000	0.84048	2.125000	0.65367	0.450000	0.29827	TGG		0.647	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2		
SGK2	10110	hgsc.bcm.edu	37	20	42198070	42198070	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:42198070C>T	ENST00000341458.4	+	5	673	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	SGK2_ENST00000426287.1_Missense_Mutation_p.R118W|SGK2_ENST00000373092.3_Missense_Mutation_p.R92W|SGK2_ENST00000373100.1_Missense_Mutation_p.R92W|SGK2_ENST00000373077.1_Missense_Mutation_p.R91W|SGK2_ENST00000423407.3_Missense_Mutation_p.R92W	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.R152G(1)|p.R152W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAAGAACGTGCGGCACCCCTT	0.582																																					p.R92W												SGK2,central_nervous_system,brain,Substitution - Missense,0	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.C274T	20						.						91.0	67.0	75.0					20																	42198070		2203	4300	6503	41631484	SO:0001583	missense	10110	exon6			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.454C>T	20.37:g.42198070C>T	ENSP00000340608:p.Arg152Trp	Somatic		Capture	SOLID	Phase_I	41631484	NM_170693	Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529912	0.64860	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	4.24	0.826	0.18829	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.158369	0.53938	D	0.000044	T	0.34629	0.0904	M	0.85777	2.775	0.30799	N	0.740101	P;D;D	0.54047	0.857;0.964;0.964	B;P;B	0.48114	0.431;0.567;0.281	T	0.43376	-0.9395	10	0.87932	D	0	.	5.9927	0.19476	0.5117:0.3905:0.0:0.0977	.	118;152;92	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	W	92;92;91;91;92;152;118	ENSP00000362192:R92W;ENSP00000362184:R92W;ENSP00000362168:R91W;ENSP00000396222:R91W;ENSP00000392795:R92W;ENSP00000340608:R152W;ENSP00000412214:R118W	ENSP00000340608:R152W	R	+	1	2	SGK2	41631484	1.000000	0.71417	0.961000	0.40146	0.647000	0.38526	4.699000	0.61796	0.488000	0.27723	-0.324000	0.08512	CGG		0.582	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1		
PRNP	5621	hgsc.bcm.edu	37	20	4680437	4680437	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:4680437A>G	ENST00000379440.4	+	2	858	c.571A>G	c.(571-573)Aca>Gca	p.T191A	PRNP_ENST00000430350.2_Missense_Mutation_p.T191A	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.T191A(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						CACGGTCACCACAACCACCAA	0.527																																					p.T191A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A571G	20						.						171.0	145.0	154.0					20																	4680437		2203	4300	6503	4628437	SO:0001583	missense	5621	exon2			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.571A>G	20.37:g.4680437A>G	ENSP00000368752:p.Thr191Ala	Somatic		Capture	SOLID	Phase_I	4628437	NM_183079		Missense_Mutation	SNP	ENST00000379440.4	37	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.937798	0.73557	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.39	5.39	0.77823	Prion/Doppel protein, beta-ribbon domain (3);	0.247838	0.34802	N	0.003663	D	0.93671	0.7978	M	0.76838	2.35	0.36335	D	0.859085	D;P;D	0.67145	0.971;0.769;0.996	D;P;D	0.79108	0.992;0.684;0.968	D	0.95982	0.8978	10	0.87932	D	0	-26.9754	11.7977	0.52110	1.0:0.0:0.0:0.0	.	191;191;223	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	A	191;191;191;130;191	ENSP00000368752:T191A;ENSP00000399376:T191A;ENSP00000411599:T191A;ENSP00000415284:T191A	ENSP00000368752:T191A	T	+	1	0	PRNP	4628437	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.601000	0.54059	2.053000	0.61076	0.533000	0.62120	ACA		0.527	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311	
ZMYND8	23613	hgsc.bcm.edu	37	20	45918995	45918995	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:45918995G>T	ENST00000311275.7	-	7	877	c.624C>A	c.(622-624)ggC>ggA	p.G208G	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Silent_p.G228G|ZMYND8_ENST00000355972.4_Silent_p.G208G|ZMYND8_ENST00000536340.1_Silent_p.G235G|ZMYND8_ENST00000471951.2_Silent_p.G228G|ZMYND8_ENST00000262975.4_Silent_p.G208G|ZMYND8_ENST00000396281.4_Silent_p.G208G|ZMYND8_ENST00000540497.1_Silent_p.G203G|ZMYND8_ENST00000352431.2_Silent_p.G228G|ZMYND8_ENST00000446994.2_Silent_p.G145G|ZMYND8_ENST00000372023.3_Silent_p.G203G|ZMYND8_ENST00000360911.3_Silent_p.G203G|ZMYND8_ENST00000458360.2_Silent_p.G203G	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	208	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.G228G(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTTCTGTGCAGCCATACATTT	0.448																																					p.G228G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C684A	20						.						111.0	92.0	98.0					20																	45918995		2203	4300	6503	45352402	SO:0001819	synonymous_variant	23613	exon7			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.624C>A	20.37:g.45918995G>T		Somatic		Capture	SOLID	Phase_I	45352402	NM_012408	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37		.	.	.	.	.	.	.	.	.	.	G	10.45	1.354588	0.24512	.	.	ENSG00000101040	ENST00000467200	.	.	.	6.16	2.79	0.32731	.	.	.	.	.	T	0.44912	0.1316	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33163	-0.9879	4	.	.	.	-12.7355	2.662	0.05029	0.1902:0.0:0.3144:0.4954	.	.	.	.	M	135	.	.	L	-	1	2	ZMYND8	45352402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.463000	0.45058	0.888000	0.36160	0.650000	0.86243	CTG		0.448	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047	
PREX1	57580	hgsc.bcm.edu	37	20	47247299	47247299	+	Silent	SNP	C	C	T	rs141559362		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:47247299C>T	ENST00000371941.3	-	36	4582	c.4560G>A	c.(4558-4560)acG>acA	p.T1520T	PREX1_ENST00000396220.1_Missense_Mutation_p.R1555Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1520					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1555Q(1)|p.T1520T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGCTGGCATCCGTGGGCAGGT	0.627																																					p.T1520T												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.G4560A	20						.	C		0,4406		0,0,2203	99.0	88.0	92.0		4560	-6.1	0.3	20	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PREX1	NM_020820.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1520/1660	47247299	1,13005	2203	4300	6503	46680706	SO:0001819	synonymous_variant	57580	exon36			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4560G>A	20.37:g.47247299C>T		Somatic		Capture	SOLID	Phase_I	46680706	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135751	0.37728	0.0	1.16E-4	ENSG00000124126	ENST00000396220	T	0.62364	0.03	4.36	-6.05	0.02172	.	.	.	.	.	T	0.46502	0.1396	.	.	.	0.22050	N	0.9994	.	.	.	.	.	.	T	0.51076	-0.8751	6	0.87932	D	0	.	0.4196	0.00454	0.3489:0.1231:0.2119:0.3162	.	.	.	.	Q	1555	ENSP00000379522:R1555Q	ENSP00000379522:R1555Q	R	-	2	0	PREX1	46680706	0.065000	0.20965	0.281000	0.24762	0.851000	0.48451	-0.844000	0.04345	-0.741000	0.04797	0.563000	0.77884	CGG		0.627	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
PREX1	57580	hgsc.bcm.edu	37	20	47251245	47251245	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:47251245G>T	ENST00000371941.3	-	33	4258	c.4236C>A	c.(4234-4236)tcC>tcA	p.S1412S	PREX1_ENST00000396220.1_Silent_p.S1412S	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1412					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1412S(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCTGCTTAAAGGAGAAGGTGA	0.577																																					p.S1412S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4236A	20						.						149.0	107.0	121.0					20																	47251245		2203	4300	6503	46684652	SO:0001819	synonymous_variant	57580	exon33			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4236C>A	20.37:g.47251245G>T		Somatic		Capture	SOLID	Phase_I	46684652	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1																																																																																				0.577	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
PREX1	57580	hgsc.bcm.edu	37	20	47260996	47260996	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:47260996G>T	ENST00000371941.3	-	27	3574	c.3552C>A	c.(3550-3552)acC>acA	p.T1184T	PREX1_ENST00000396220.1_Silent_p.T1184T|PREX1_ENST00000496915.1_5'Flank	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1184					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T1184T(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTCTCACGCTGGTGTAGGACA	0.612																																					p.T1184T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3552A	20						.						107.0	83.0	91.0					20																	47260996		2203	4300	6503	46694403	SO:0001819	synonymous_variant	57580	exon27			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3552C>A	20.37:g.47260996G>T		Somatic		Capture	SOLID	Phase_I	46694403	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1																																																																																				0.612	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
ARFGEF2	10564	hgsc.bcm.edu	37	20	47587727	47587727	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:47587727G>A	ENST00000371917.4	+	10	1261	c.1261G>A	c.(1261-1263)Gta>Ata	p.V421I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	421					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.V421I(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGCTGGCCCCGTATTCAGGAC	0.483																																					p.V421I	Esophageal Squamous(176;1738 1974 26285 33069 35354)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1261A	20						.						179.0	163.0	168.0					20																	47587727		2203	4300	6503	47021134	SO:0001583	missense	10564	exon10			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1261G>A	20.37:g.47587727G>A	ENSP00000360985:p.Val421Ile	Somatic		Capture	SOLID	Phase_I	47021134	NM_006420	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165281	0.57476	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.42900	0.96	5.63	5.63	0.86233	Armadillo-type fold (1);	0.056142	0.64402	D	0.000001	T	0.44201	0.1282	L	0.49513	1.565	0.58432	D	0.999999	B	0.27951	0.195	B	0.31245	0.126	T	0.26292	-1.0107	10	0.39692	T	0.17	.	19.7431	0.96238	0.0:0.0:1.0:0.0	.	421	Q9Y6D5	BIG2_HUMAN	I	421	ENSP00000360985:V421I	ENSP00000360985:V421I	V	+	1	0	ARFGEF2	47021134	1.000000	0.71417	0.954000	0.39281	0.937000	0.57800	5.055000	0.64282	2.662000	0.90505	0.555000	0.69702	GTA		0.483	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
ZNFX1	57169	hgsc.bcm.edu	37	20	47866212	47866212	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:47866212A>T	ENST00000396105.1	-	14	3595	c.3349T>A	c.(3349-3351)Ttt>Att	p.F1117I	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.F1117I	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1117							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGTTCAGGAAAGTTGTGTTCT	0.448																																					p.F1117I												.	.	0			c.T3349A	20						.						78.0	82.0	80.0					20																	47866212		2203	4300	6503	47299619	SO:0001583	missense	57169	exon14			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3349T>A	20.37:g.47866212A>T	ENSP00000379412:p.Phe1117Ile	Somatic		Capture	SOLID	Phase_I	47299619	NM_021035	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	A	8.235	0.805498	0.16467	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.81821	-1.54;-1.54	5.39	5.39	0.77823	.	0.196102	0.48286	D	0.000195	T	0.75722	0.3888	L	0.55481	1.735	0.39676	D	0.970833	B	0.28584	0.216	B	0.27500	0.08	T	0.72944	-0.4138	10	0.22706	T	0.39	-18.5471	14.374	0.66860	1.0:0.0:0.0:0.0	.	1117	Q9P2E3	ZNFX1_HUMAN	I	1117	ENSP00000360817:F1117I;ENSP00000379412:F1117I	ENSP00000360817:F1117I	F	-	1	0	ZNFX1	47299619	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.007000	0.40883	2.263000	0.75096	0.472000	0.43445	TTT		0.448	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
PTGIS	5740	hgsc.bcm.edu	37	20	48127680	48127680	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:48127680A>G	ENST00000244043.4	-	9	1272	c.1243T>C	c.(1243-1245)Tca>Cca	p.S415P	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	415					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)	p.S415P(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	TTCTTCTCTGATCCGTCAGGG	0.478																																					p.S415P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1243C	20						.						68.0	61.0	63.0					20																	48127680		2203	4300	6503	47561087	SO:0001583	missense	5740	exon9				CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1243T>C	20.37:g.48127680A>G	ENSP00000244043:p.Ser415Pro	Somatic		Capture	SOLID	Phase_I	47561087	NM_000961	Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.757773	0.49468	.	.	ENSG00000124212	ENST00000244043	T	0.01304	5.03	5.26	1.37	0.22104	.	0.495182	0.18651	N	0.134991	T	0.03220	0.0094	L	0.54323	1.7	0.19945	N	0.999947	D	0.53745	0.962	P	0.52454	0.699	T	0.37103	-0.9720	10	0.48119	T	0.1	-2.0697	9.8818	0.41238	0.3164:0.0:0.0:0.6836	.	415	Q16647	PTGIS_HUMAN	P	415	ENSP00000244043:S415P	ENSP00000244043:S415P	S	-	1	0	PTGIS	47561087	0.970000	0.33590	0.903000	0.35520	0.997000	0.91878	2.045000	0.41250	0.283000	0.22279	0.459000	0.35465	TCA		0.478	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2		
AURKA	6790	hgsc.bcm.edu	37	20	54948501	54948501	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:54948501C>T	ENST00000347343.2	-	7	1084	c.817G>A	c.(817-819)Gca>Aca	p.A273T	AURKA_ENST00000395907.1_Missense_Mutation_p.A273T|AURKA_ENST00000395909.4_Missense_Mutation_p.A273T|AURKA_ENST00000312783.6_Missense_Mutation_p.A273T|AURKA_ENST00000395911.1_Missense_Mutation_p.A273T|AURKA_ENST00000395915.3_Missense_Mutation_p.A273T|AURKA_ENST00000395913.3_Missense_Mutation_p.A273T|AURKA_ENST00000371356.2_Missense_Mutation_p.A273T|AURKA_ENST00000395914.1_Missense_Mutation_p.A273T	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.A273T(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			CCAAAATCTGCAATTTTAAGC	0.433																																					p.A273T	Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G817A	20						.						118.0	106.0	110.0					20																	54948501		2203	4300	6503	54381908	SO:0001583	missense	6790	exon8			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.817G>A	20.37:g.54948501C>T	ENSP00000216911:p.Ala273Thr	Somatic		Capture	SOLID	Phase_I	54381908	NM_198436	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Missense_Mutation	SNP	ENST00000347343.2	37	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	36	5.863906	0.97043	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907	T;T;T;T;T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07	5.44	5.44	0.79542	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.23572	0.0570	L	0.41492	1.28	0.80722	D	1	D;D;D;D	0.89917	0.988;0.999;1.0;1.0	P;D;D;D	0.79784	0.826;0.978;0.993;0.993	T	0.00263	-1.1866	10	0.87932	D	0	-10.8249	19.6145	0.95629	0.0:1.0:0.0:0.0	.	205;273;273;273	B4DX16;A3KFJ0;B2R6Z3;O14965	.;.;.;AURKA_HUMAN	T	273	ENSP00000379245:A273T;ENSP00000379250:A273T;ENSP00000216911:A273T;ENSP00000379251:A273T;ENSP00000321591:A273T;ENSP00000360407:A273T;ENSP00000379249:A273T;ENSP00000379247:A273T;ENSP00000379243:A273T	ENSP00000321591:A273T	A	-	1	0	AURKA	54381908	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.676000	0.84012	2.722000	0.93159	0.591000	0.81541	GCA		0.433	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600	
CASS4	57091	hgsc.bcm.edu	37	20	55012629	55012629	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:55012629G>A	ENST00000360314.3	+	3	671	c.446G>A	c.(445-447)aGc>aAc	p.S149N	CASS4_ENST00000371336.3_Missense_Mutation_p.S149N|CASS4_ENST00000434344.1_Missense_Mutation_p.S149N	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	149					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.S149N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAGACTCTCAGCTTTCCAAAA	0.542																																					p.S149N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G446A	20						.						72.0	71.0	71.0					20																	55012629		2114	4175	6289	54446036	SO:0001583	missense	57091	exon2			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.446G>A	20.37:g.55012629G>A	ENSP00000353462:p.Ser149Asn	Somatic		Capture	SOLID	Phase_I	54446036	NM_020356	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172349	0.38315	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.21191	2.5;2.5;2.02	5.57	-2.21	0.06973	.	0.742942	0.14463	N	0.318071	T	0.16128	0.0388	L	0.41824	1.3	0.09310	N	0.999999	B;B;B	0.17667	0.009;0.023;0.013	B;B;B	0.24541	0.011;0.054;0.014	T	0.35351	-0.9792	10	0.15952	T	0.53	-12.9092	14.0724	0.64868	0.0616:0.5324:0.406:0.0	.	149;149;149	Q9NQ75-3;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	N	149	ENSP00000353462:S149N;ENSP00000360387:S149N;ENSP00000410027:S149N	ENSP00000353462:S149N	S	+	2	0	CASS4	54446036	0.000000	0.05858	0.016000	0.15963	0.985000	0.73830	0.153000	0.16323	-0.267000	0.09325	0.655000	0.94253	AGC		0.542	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356	
ZBP1	81030	hgsc.bcm.edu	37	20	56185214	56185214	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:56185214C>T	ENST00000371173.3	-	7	1261	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	ZBP1_ENST00000343535.4_Missense_Mutation_p.E362K|ZBP1_ENST00000340462.4_Missense_Mutation_p.E339K|ZBP1_ENST00000395822.3_Missense_Mutation_p.E287K	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	362					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.E362K(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CCTGCGTCCTCCCCTGGCTCC	0.592																																					p.E361K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1081A	20						.						100.0	95.0	97.0					20																	56185214		2203	4300	6503	55618620	SO:0001583	missense	81030	exon7			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.1084G>A	20.37:g.56185214C>T	ENSP00000360215:p.Glu362Lys	Somatic		Capture	SOLID	Phase_I	55618620	NM_001160417	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	C	9.251	1.040735	0.19669	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.21734	2.37;1.99;2.38;2.63	3.59	-0.609	0.11608	.	2.601050	0.01719	N	0.028166	T	0.12860	0.0312	N	0.17082	0.46	0.09310	N	1	B;B;B	0.21520	0.031;0.057;0.031	B;B;B	0.11329	0.006;0.006;0.006	T	0.22452	-1.0216	10	0.46703	T	0.11	-2.8968	3.3016	0.06985	0.0:0.4292:0.2075:0.3633	.	362;287;362	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	K	362;287;339;362;362	ENSP00000360215:E362K;ENSP00000379167:E287K;ENSP00000344954:E339K;ENSP00000340584:E362K	ENSP00000344954:E339K	E	-	1	0	ZBP1	55618620	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	0.069000	0.14552	0.013000	0.14918	-0.651000	0.03910	GAG		0.592	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776	
PHACTR3	116154	hgsc.bcm.edu	37	20	58318186	58318186	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:58318186C>T	ENST00000371015.1	+	2	610	c.143C>T	c.(142-144)gCg>gTg	p.A48V	PHACTR3_ENST00000395636.2_Missense_Mutation_p.A7V|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A45V|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A7V|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A7V|PHACTR3_ENST00000395639.4_Missense_Mutation_p.A7V|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A7V	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	48						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.A48V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			ACGCCCCCGGCGCGTCCTGAA	0.577																																					p.A48V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C143T	20						.						86.0	96.0	93.0					20																	58318186		2203	4300	6503	57751581	SO:0001583	missense	116154	exon2			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.143C>T	20.37:g.58318186C>T	ENSP00000360054:p.Ala48Val	Somatic		Capture	SOLID	Phase_I	57751581	NM_080672	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	3.791	-0.043617	0.07452	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.26957	1.96;1.96;1.7;2.09;2.09;2.09;1.7	4.41	-5.64	0.02466	.	0.440711	0.22674	N	0.057036	T	0.11965	0.0291	L	0.28115	0.83	0.25078	N	0.99094	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.40251	-0.9573	10	0.02654	T	1	-0.4125	13.9571	0.64155	0.0:0.1493:0.0:0.8507	.	7;48;45	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	V	45;48;7;7;7;7;7	ENSP00000353002:A45V;ENSP00000360054:A48V;ENSP00000379001:A7V;ENSP00000442483:A7V;ENSP00000347866:A7V;ENSP00000378998:A7V;ENSP00000354555:A7V	ENSP00000347866:A7V	A	+	2	0	PHACTR3	57751581	0.974000	0.33945	0.017000	0.16124	0.512000	0.34134	0.658000	0.24979	-1.094000	0.03054	0.462000	0.41574	GCG		0.577	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	
TCFL5	10732	hgsc.bcm.edu	37	20	61488883	61488883	+	Missense_Mutation	SNP	C	C	A	rs200910523		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:61488883C>A	ENST00000335351.3	-	4	1194	c.1102G>T	c.(1102-1104)Ggt>Tgt	p.G368C	TCFL5_ENST00000217162.5_Missense_Mutation_p.G320C	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	368					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G368C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GCGGTGGCACCTTCGCCCACA	0.577																																					p.G368C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1102T	20						.						120.0	111.0	114.0					20																	61488883		2203	4300	6503	60959328	SO:0001583	missense	10732	exon4			AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1102G>T	20.37:g.61488883C>A	ENSP00000334294:p.Gly368Cys	Somatic		Capture	SOLID	Phase_I	60959328	NM_006602	O94771|Q9BYW0	Missense_Mutation	SNP	ENST00000335351.3	37	CCDS13506.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129341	0.56721	.	.	ENSG00000101190	ENST00000335351;ENST00000217162	T;T	0.34275	1.4;1.37	5.61	3.47	0.39725	.	0.196330	0.34628	N	0.003806	T	0.32526	0.0832	L	0.27053	0.805	0.21020	N	0.999802	D;D	0.63046	0.992;0.985	P;P	0.53146	0.719;0.527	T	0.07927	-1.0747	10	0.66056	D	0.02	-4.7343	6.2249	0.20701	0.0:0.6678:0.0:0.3322	.	320;368	F8W9A4;Q9UL49	.;TCFL5_HUMAN	C	368;320	ENSP00000334294:G368C;ENSP00000217162:G320C	ENSP00000217162:G320C	G	-	1	0	TCFL5	60959328	0.816000	0.29132	0.604000	0.28916	0.689000	0.40095	1.830000	0.39131	1.382000	0.46385	0.585000	0.79938	GGT		0.577	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602	
ZNF512B	57473	hgsc.bcm.edu	37	20	62654201	62654201	+	Intron	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:62654201C>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Missense_Mutation_p.A580V|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A580V(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGCTGCGCGCCGCGTACTTC	0.582																																					p.A580V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1739T	20						.						114.0	95.0	101.0					20																	62654201		2203	4300	6503	62124645	SO:0001627	intron_variant	24148	exon13			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+25856G>A	20.37:g.62654201C>T		Somatic		Capture	SOLID	Phase_I	62124645	NM_012469	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140520	0.94560	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.34472	1.36;1.36	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.48314	0.1493	M	0.75085	2.285	0.80722	D	1	P;P	0.51351	0.828;0.944	P;P	0.47162	0.54;0.52	T	0.36672	-0.9738	10	0.18710	T	0.47	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	580;580	O94906-2;O94906	.;PRP6_HUMAN	V	580	ENSP00000266079:A580V;ENSP00000446216:A580V	ENSP00000266079:A580V	A	+	2	0	PRPF6	62124645	1.000000	0.71417	0.227000	0.23927	0.781000	0.44180	7.485000	0.81204	2.815000	0.96918	0.561000	0.74099	GCC		0.582	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	
ZHX3	23051	hgsc.bcm.edu	37	20	39831308	39831312	+	Frame_Shift_Del	DEL	TCACA	TCACA	-	rs147861291	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	TCACA	TCACA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:39831308_39831312delTCACA	ENST00000309060.3	-	4	2660_2664	c.2245_2249delTGTGA	c.(2245-2250)tgtgacfs	p.CD749fs	ZHX3_ENST00000560361.1_Frame_Shift_Del_p.CD749fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.CD749fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.CD749fs|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.CD749fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.CD749fs|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	749					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.C749fs*2(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ATCCTCAGGGTCACAGGCACCCAGC	0.541																																					p.749_750del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2245_2249del	20						.																																			39264726	SO:0001589	frameshift_variant	23051	exon3			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2245_2249delTGTGA	20.37:g.39831308_39831312delTCACA	ENSP00000312222:p.Cys749fs	Somatic		Capture	SOLID	Phase_I	39264722	NM_015035	E1P5W5|F5H820|O43145|Q6NUJ7	Frame_Shift_Del	DEL	ENST00000309060.3	37	CCDS13315.1																																																																																				0.541	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035	
ZNF512B	57473	hgsc.bcm.edu	37	20	62660800	62660800	+	Intron	SNP	G	G	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr20:62660800G>C	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Silent_p.L794L|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGATGCCCTGAAGAAGTGTG	0.547																																					p.L834L												.	.	0			c.G2502C	20						.						110.0	103.0	106.0					20																	62660800		2203	4300	6503	62131244	SO:0001627	intron_variant	24148	exon19			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+19257C>G	20.37:g.62660800G>C		Somatic		Capture	SOLID	Phase_I	62131244	NM_012469	Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	CCDS13548.1																																																																																				0.547	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	
DYNC1H1	1778	hgsc.bcm.edu	37	14	102453861	102453861	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:102453861C>T	ENST00000360184.4	+	9	2774	c.2610C>T	c.(2608-2610)gaC>gaT	p.D870D		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	870	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.D870D(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTATGTATGACCATAAGACAT	0.378																																					p.D870D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2610T	14						.						79.0	74.0	75.0					14																	102453861		2203	4300	6503	101523614	SO:0001819	synonymous_variant	1778	exon9			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2610C>T	14.37:g.102453861C>T		Somatic		Capture	SOLID	Phase_I	101523614	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																				0.378	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
CCNB1IP1	57820	hgsc.bcm.edu	37	14	20784443	20784443	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:20784443C>T	ENST00000398169.3	-	5	856	c.240G>A	c.(238-240)ctG>ctA	p.L80L	CCNB1IP1_ENST00000358932.4_Silent_p.L80L|CCNB1IP1_ENST00000353689.4_Silent_p.L80L|CCNB1IP1_ENST00000437553.2_Silent_p.L80L|CCNB1IP1_ENST00000398160.2_Silent_p.L80L|CCNB1IP1_ENST00000398163.2_Silent_p.L80L			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	80					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L80L(1)	HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TCTCTGGTCGCAGTCCTGCCA	0.478			T	HMGA2	leiomyoma																																p.L80L			Dom	yes		14	14q11.2	57820	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G240A	14						.						94.0	90.0	92.0					14																	20784443		2203	4300	6503	19854283	SO:0001819	synonymous_variant	57820	exon4			AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.240G>A	14.37:g.20784443C>T		Somatic		Capture	SOLID	Phase_I	19854283	NM_182849		Silent	SNP	ENST00000398169.3	37	CCDS9547.1																																																																																				0.478	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852	
TEP1	7011	hgsc.bcm.edu	37	14	20852646	20852646	+	Silent	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:20852646A>C	ENST00000262715.5	-	23	3283	c.3243T>G	c.(3241-3243)ggT>ggG	p.G1081G	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Silent_p.G973G	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACT	0.582																																					p.G1081G												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.T3243G	14						.						107.0	128.0	121.0					14																	20852646		2203	4300	6503	19922486	SO:0001819	synonymous_variant	7011	exon23				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3243T>G	14.37:g.20852646A>C		Somatic		Capture	SOLID	Phase_I	19922486	NM_007110	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																				0.582	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
NDRG2	57447	hgsc.bcm.edu	37	14	21490582	21490582	+	Silent	SNP	C	C	T	rs138902025	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:21490582C>T	ENST00000556147.1	-	4	1132	c.192G>A	c.(190-192)gcG>gcA	p.A64A	NDRG2_ENST00000555158.1_Silent_p.A50A|NDRG2_ENST00000553503.1_Silent_p.A50A|NDRG2_ENST00000298684.5_Silent_p.A50A|NDRG2_ENST00000397844.2_Silent_p.A50A|NDRG2_ENST00000397847.2_Silent_p.A64A|NDRG2_ENST00000350792.3_Silent_p.A50A|NDRG2_ENST00000554143.1_Silent_p.A50A|NDRG2_ENST00000298687.5_Silent_p.A64A|NDRG2_ENST00000554104.1_5'UTR|NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000397851.2_Silent_p.A64A|NDRG2_ENST00000397856.3_Silent_p.A50A|NDRG2_ENST00000397855.3_Silent_p.A50A|NDRG2_ENST00000403829.3_Silent_p.A60A|AL161668.5_ENST00000533984.1_lincRNA|NDRG2_ENST00000360463.3_Silent_p.A50A|NDRG2_ENST00000397858.1_Silent_p.A64A|NDRG2_ENST00000397853.3_Silent_p.A64A			Q9UN36	NDRG2_HUMAN	NDRG family member 2	64					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)		p.A64A(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGGTAAGGATCGCTGGGCGTT	0.537																																					p.A50A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G150A	14						.						129.0	118.0	122.0					14																	21490582		2203	4300	6503	20560422	SO:0001819	synonymous_variant	57447	exon4			AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.192G>A	14.37:g.21490582C>T		Somatic		Capture	SOLID	Phase_I	20560422	NM_016250	B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Silent	SNP	ENST00000556147.1	37	CCDS9565.1																																																																																				0.537	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1		
SUPT16H	11198	hgsc.bcm.edu	37	14	21827744	21827744	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:21827744G>A	ENST00000216297.2	-	19	2538	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	734					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R734W(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCCGTGTGCCGCTTCTTCCCA	0.463																																					p.R734W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2200T	14						.						127.0	97.0	107.0					14																	21827744		2203	4300	6503	20897584	SO:0001583	missense	11198	exon19			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2200C>T	14.37:g.21827744G>A	ENSP00000216297:p.Arg734Trp	Somatic		Capture	SOLID	Phase_I	20897584	NM_007192	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451081	0.84209	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.79	3.92	0.45320	.	0.059797	0.64402	D	0.000003	T	0.54679	0.1873	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	P	0.53146	0.719	T	0.55774	-0.8088	9	0.87932	D	0	-8.6262	7.8696	0.29558	0.0746:0.0:0.6398:0.2856	.	734	Q9Y5B9	SP16H_HUMAN	W	734	.	ENSP00000216297:R734W	R	-	1	2	SUPT16H	20897584	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.349000	0.52217	0.747000	0.32809	0.655000	0.94253	CGG		0.463	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2		
SALL2	6297	hgsc.bcm.edu	37	14	21991019	21991019	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:21991019C>T	ENST00000327430.3	-	2	3137	c.2843G>A	c.(2842-2844)gGc>gAc	p.G948D	SALL2_ENST00000450879.2_Missense_Mutation_p.G811D|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	948					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G948D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTCAAGAAAGCCCTGCCTGCA	0.587																																					p.G948D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2843A	14						.						54.0	54.0	54.0					14																	21991019		2203	4300	6503	21060859	SO:0001583	missense	6297	exon2			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2843G>A	14.37:g.21991019C>T	ENSP00000333537:p.Gly948Asp	Somatic		Capture	SOLID	Phase_I	21060859	NM_005407	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.263709|4.263709	0.80358|0.80358	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000546363|ENST00000327430;ENST00000450879	.|T;T	.|0.18016	.|2.24;2.24	4.79|4.79	4.79|4.79	0.61399|0.61399	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.183733	.|0.26407	.|N	.|0.024551	T|T	0.35770|0.35770	0.0943|0.0943	L|L	0.56199|0.56199	1.76|1.76	0.38581|0.38581	D|D	0.950178|0.950178	.|D;D;D;D	.|0.69078	.|0.997;0.997;0.997;0.997	.|D;D;D;D	.|0.66847	.|0.947;0.947;0.947;0.927	T|T	0.13764|0.13764	-1.0497|-1.0497	5|10	.|0.56958	.|D	.|0.05	-3.7834|-3.7834	15.3617|15.3617	0.74483|0.74483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|811;811;709;948	.|B4DK65;E7EW59;B4DFD9;Q9Y467	.|.;.;.;SALL2_HUMAN	T|D	807|948;811	.|ENSP00000333537:G948D;ENSP00000396773:G811D	.|ENSP00000333537:G948D	A|G	-|-	1|2	0|0	SALL2|SALL2	21060859|21060859	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.581000|3.581000	0.53914|0.53914	2.480000|2.480000	0.83734|0.83734	0.563000|0.563000	0.77884|0.77884	GCT|GGC		0.587	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407	
LRRC16B	90668	hgsc.bcm.edu	37	14	24529260	24529260	+	Silent	SNP	C	C	T	rs58283036	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:24529260C>T	ENST00000342740.5	+	23	2104	c.1950C>T	c.(1948-1950)gaC>gaT	p.D650D	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	650						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCACCGAGGACGTCTGGCAGA	0.662													C|||	1594	0.318291	0.382	0.2478	5008	,	,		21073	0.5556		0.0924	False		,,,				2504	0.2699				p.D650D												.	.	0			c.C1950T	14						.	C		1461,2945	472.0+/-356.2	261,939,1003	120.0	105.0	110.0		1950	-4.8	0.9	14	dbSNP_129	110	777,7823	183.3+/-231.6	39,699,3562	no	coding-synonymous	LRRC16B	NM_138360.3		300,1638,4565	TT,TC,CC		9.0349,33.1593,17.2074		650/1373	24529260	2238,10768	2203	4300	6503	23599100	SO:0001819	synonymous_variant	90668	exon23			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1950C>T	14.37:g.24529260C>T		Somatic		Capture	SOLID	Phase_I	23599100	NM_138360	Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	CCDS32054.1																																																																																				0.662	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360	
ADCY4	196883	hgsc.bcm.edu	37	14	24798639	24798639	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:24798639C>A	ENST00000310677.4	-	10	1431	c.1318G>T	c.(1318-1320)Ggg>Tgg	p.G440W	ADCY4_ENST00000418030.2_Missense_Mutation_p.G440W|ADCY4_ENST00000396747.3_Missense_Mutation_p.G133W|ADCY4_ENST00000554068.2_Missense_Mutation_p.G440W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	440					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.G440W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GTAGGCTCCCCTAGCTCCCGA	0.627																																					p.G440W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1318T	14						.						68.0	69.0	68.0					14																	24798639		2203	4300	6503	23868479	SO:0001583	missense	196883	exon10			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1318G>T	14.37:g.24798639C>A	ENSP00000312126:p.Gly440Trp	Somatic		Capture	SOLID	Phase_I	23868479	NM_001198592	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	CCDS9627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.26|12.26	1.885069|1.885069	0.33255|0.33255	.|.	.|.	ENSG00000129467|ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747|ENST00000556932	T;T;T;T|.	0.80824|.	-1.2;-1.2;-1.2;-1.42|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Adenylyl cyclase class-3/4/guanylyl cyclase (3);|.	0.000000|.	0.47093|.	D|.	0.000252|.	T|.	0.72061|.	0.3414|.	M|M	0.78456|0.78456	2.415|2.415	0.44323|0.44323	D|D	0.997209|0.997209	D|.	0.76494|.	0.999|.	D|.	0.70935|.	0.971|.	T|.	0.72760|.	-0.4196|.	10|.	0.72032|.	D|.	0.01|.	.|.	9.4919|9.4919	0.38965|0.38965	0.0:0.9064:0.0:0.0936|0.0:0.9064:0.0:0.0936	.|.	440|.	Q8NFM4|.	ADCY4_HUMAN|.	W|Y	440;440;440;133|12	ENSP00000312126:G440W;ENSP00000452250:G440W;ENSP00000393177:G440W;ENSP00000379971:G133W|.	ENSP00000312126:G440W|.	G|X	-|-	1|3	0|2	ADCY4|ADCY4	23868479|23868479	0.003000|0.003000	0.15002|0.15002	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.896000|1.896000	0.39789|0.39789	2.670000|2.670000	0.90874|0.90874	0.655000|0.655000	0.94253|0.94253	GGG|TAG		0.627	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		
NFATC4	4776	hgsc.bcm.edu	37	14	24841732	24841732	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:24841732C>A	ENST00000250373.4	+	3	1423	c.1282C>A	c.(1282-1284)Cac>Aac	p.H428N	NFATC4_ENST00000413692.2_Missense_Mutation_p.H491N|NFATC4_ENST00000554344.1_Missense_Mutation_p.H358N|NFATC4_ENST00000555590.1_Missense_Mutation_p.H441N|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000553469.1_Missense_Mutation_p.H460N|NFATC4_ENST00000556169.1_Missense_Mutation_p.H416N|NFATC4_ENST00000557451.1_Missense_Mutation_p.H358N|NFATC4_ENST00000554966.1_Missense_Mutation_p.H441N|NFATC4_ENST00000554591.1_Missense_Mutation_p.H491N|NFATC4_ENST00000556279.1_Missense_Mutation_p.H460N|NFATC4_ENST00000539237.2_Missense_Mutation_p.H460N|NFATC4_ENST00000554661.1_Missense_Mutation_p.H358N|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000554050.1_Missense_Mutation_p.H428N|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000555453.1_Missense_Mutation_p.H416N|NFATC4_ENST00000422617.3_Missense_Mutation_p.H416N|NFATC4_ENST00000424781.2_Missense_Mutation_p.H441N|NFATC4_ENST00000553708.1_Missense_Mutation_p.H428N|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000553879.1_Missense_Mutation_p.H358N	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	428	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)	p.H428N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GCCTAGAGCCCACCACCGGGC	0.622																																					p.H491N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1471A	14						.						48.0	49.0	49.0					14																	24841732		2203	4300	6503	23911572	SO:0001583	missense	4776	exon4			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1282C>A	14.37:g.24841732C>A	ENSP00000250373:p.His428Asn	Somatic		Capture	SOLID	Phase_I	23911572	NM_001136022	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146735	0.57151	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554779;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54279	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;0.58;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.01	5.01	0.66863	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	M	0.75085	2.285	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.81914	0.946;0.963;0.991;0.963;0.991;0.991;0.963;0.963;0.975;0.963;0.991;0.991;0.978;0.991;0.995	T	0.75569	-0.3272	10	0.87932	D	0	-8.4276	15.8646	0.79055	0.0:1.0:0.0:0.0	.	416;416;460;460;441;441;441;491;491;416;358;460;405;491;428	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	N	491;491;441;441;441;460;460;460;428;120;428;428;358;358;358;416;358;416;416	ENSP00000388910:H491N;ENSP00000452039:H491N;ENSP00000451224:H441N;ENSP00000450644:H441N;ENSP00000388668:H441N;ENSP00000439350:H460N;ENSP00000452270:H460N;ENSP00000451502:H460N;ENSP00000451151:H428N;ENSP00000451992:H120N;ENSP00000250373:H428N;ENSP00000450590:H428N;ENSP00000452349:H358N;ENSP00000450469:H358N;ENSP00000450733:H358N;ENSP00000451454:H416N;ENSP00000451284:H358N;ENSP00000396788:H416N;ENSP00000450686:H416N	ENSP00000250373:H428N	H	+	1	0	NFATC4	23911572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.646000	0.67916	2.603000	0.88011	0.655000	0.94253	CAC		0.622	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554	
GZMB	3002	hgsc.bcm.edu	37	14	25101092	25101092	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:25101092T>C	ENST00000216341.4	-	4	678	c.572A>G	c.(571-573)gAc>gGc	p.D191G	RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000415355.3_Missense_Mutation_p.D179G|GZMB_ENST00000526004.1_3'UTR|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.D225G|GZMB_ENST00000382540.1_Missense_Mutation_p.D146G			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	191	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D225G(1)|p.D191G(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		AATCTCTGGGTCCCCCACGCA	0.463																																					p.D191G												.	.	2	Substitution - Missense(2)	endometrium(2)	c.A572G	14						.						135.0	127.0	130.0					14																	25101092		2203	4300	6503	24170932	SO:0001583	missense	3002	exon4			BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.572A>G	14.37:g.25101092T>C	ENSP00000216341:p.Asp191Gly	Somatic		Capture	SOLID	Phase_I	24170932	NM_004131	Q8N1D2|Q9UCC1	Missense_Mutation	SNP	ENST00000216341.4	37	CCDS9633.1	.	.	.	.	.	.	.	.	.	.	t	15.19	2.760919	0.49468	.	.	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000382539	D;D;D;T	0.87809	-2.3;-2.3;-2.3;1.71	5.3	5.3	0.74995	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.217716	0.23365	N	0.048977	T	0.74061	0.3667	N	0.03881	-0.34	0.37518	D	0.917437	B;B	0.24618	0.055;0.107	B;B	0.30029	0.11;0.11	T	0.75107	-0.3434	10	0.51188	T	0.08	.	11.5502	0.50716	0.0:0.0:0.0:1.0	.	179;191	Q6XGZ4;P10144	.;GRAB_HUMAN	G	179;191;225;146;96	ENSP00000387385:D179G;ENSP00000216341:D191G;ENSP00000371982:D225G;ENSP00000371980:D146G	ENSP00000216341:D191G	D	-	2	0	GZMB	24170932	0.979000	0.34478	0.942000	0.38095	0.038000	0.13279	3.997000	0.57016	2.228000	0.72767	0.533000	0.62120	GAC		0.463	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131	
AKAP6	9472	hgsc.bcm.edu	37	14	33290915	33290915	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:33290915A>C	ENST00000280979.4	+	13	4066	c.3896A>C	c.(3895-3897)gAc>gCc	p.D1299A	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1299					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.D1299A(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCTATGAGGACAACCACATG	0.423																																					p.D1299A	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3896C	14						.						57.0	50.0	52.0					14																	33290915		2203	4300	6503	32360666	SO:0001583	missense	9472	exon13			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3896A>C	14.37:g.33290915A>C	ENSP00000280979:p.Asp1299Ala	Somatic		Capture	SOLID	Phase_I	32360666	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704917	0.30232	.	.	ENSG00000151320	ENST00000280979	T	0.05081	3.5	6.03	6.03	0.97812	.	0.415371	0.26442	N	0.024342	T	0.08935	0.0221	L	0.51422	1.61	0.80722	D	1	B	0.30741	0.293	B	0.22386	0.039	T	0.03706	-1.1011	10	0.72032	D	0.01	-10.7549	16.5582	0.84512	1.0:0.0:0.0:0.0	.	1299	Q13023	AKAP6_HUMAN	A	1299	ENSP00000280979:D1299A	ENSP00000280979:D1299A	D	+	2	0	AKAP6	32360666	1.000000	0.71417	0.631000	0.29282	0.928000	0.56348	3.838000	0.55828	2.308000	0.77769	0.533000	0.62120	GAC		0.423	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
SRP54	6729	hgsc.bcm.edu	37	14	35492151	35492151	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:35492151A>G	ENST00000556994.1	+	15	1589	c.1192A>G	c.(1192-1194)Aaa>Gaa	p.K398E	SRP54_ENST00000216774.6_Missense_Mutation_p.K398E|SRP54_ENST00000546080.1_Missense_Mutation_p.K349E|SRP54_ENST00000555557.1_Missense_Mutation_p.K334E			P61011	SRP54_HUMAN	signal recognition particle 54kDa	398	M-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)	p.K398E(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AGTTTTTAGTAAACAACCAGG	0.393																																					p.K398E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1192G	14						.						106.0	94.0	99.0					14																	35492151		2203	4300	6503	34561902	SO:0001583	missense	6729	exon14			X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.1192A>G	14.37:g.35492151A>G	ENSP00000451818:p.Lys398Glu	Somatic		Capture	SOLID	Phase_I	34561902	NM_003136	B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.502345	0.26949	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.54	5.54	0.83059	Signal recognition particle, SRP54 subunit, M-domain (3);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.38649	1.16	0.80722	D	1	B;B	0.14805	0.007;0.011	B;B	0.12837	0.008;0.008	T	0.47114	-0.9142	9	0.07644	T	0.81	-14.1434	15.6808	0.77367	1.0:0.0:0.0:0.0	.	349;398	B4DUW6;P61011	.;SRP54_HUMAN	E	398;398;349;334	.	ENSP00000216774:K398E	K	+	1	0	SRP54	34561902	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.207000	0.95064	2.089000	0.63090	0.454000	0.30748	AAA		0.393	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136	
FANCM	57697	hgsc.bcm.edu	37	14	45628406	45628406	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:45628406A>T	ENST00000267430.5	+	9	1589	c.1504A>T	c.(1504-1506)Att>Ttt	p.I502F	FANCM_ENST00000542564.2_Missense_Mutation_p.I476F|FANCM_ENST00000556036.1_Missense_Mutation_p.I502F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	502	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.I502F(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GCATCAGCCAATTATTAGAGT	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.I502F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1504T	14						.						62.0	60.0	61.0					14																	45628406		2203	4300	6503	44698156	SO:0001583	missense	57697	exon9	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1504A>T	14.37:g.45628406A>T	ENSP00000267430:p.Ile502Phe	Somatic		Capture	SOLID	Phase_I	44698156	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.111361	0.37242	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	5.39	-8.64	0.00874	Helicase, C-terminal (2);	0.977765	0.08411	N	0.949930	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B;B;B	0.16166	0.016;0.016;0.002	B;B;B	0.23150	0.044;0.044;0.013	T	0.47114	-0.9142	10	0.30078	T	0.28	.	13.4285	0.61039	0.6898:0.0875:0.2227:0.0	.	476;502;502	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	F	502;502;476;87	ENSP00000450596:I502F;ENSP00000267430:I502F;ENSP00000442493:I476F;ENSP00000452033:I87F	ENSP00000267430:I502F	I	+	1	0	FANCM	44698156	0.000000	0.05858	0.162000	0.22713	0.968000	0.65278	-2.477000	0.00985	-2.044000	0.00911	-0.468000	0.05107	ATT		0.398	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
FRMD6	122786	hgsc.bcm.edu	37	14	52171563	52171563	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:52171563A>G	ENST00000344768.5	+	6	664	c.468A>G	c.(466-468)gcA>gcG	p.A156A	FRMD6_ENST00000554167.1_Silent_p.A79A|FRMD6_ENST00000395718.2_Silent_p.A148A|FRMD6_ENST00000356218.4_Silent_p.A148A			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	156	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.A148A(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TCCTGCTGGCAGCCTTTGCCC	0.478																																					p.A148A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A444G	14						.						66.0	65.0	66.0					14																	52171563		2203	4300	6503	51241313	SO:0001819	synonymous_variant	122786	exon6			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.468A>G	14.37:g.52171563A>G		Somatic		Capture	SOLID	Phase_I	51241313	NM_152330	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	CCDS58318.1																																																																																				0.478	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330	
SAMD4A	23034	hgsc.bcm.edu	37	14	55203792	55203795	+	Frame_Shift_Del	DEL	ACCC	ACCC	-	rs538921487		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	ACCC	ACCC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:55203792_55203795delACCC	ENST00000554335.1	+	4	1429_1432	c.766_769delACCC	c.(766-771)accccafs	p.TP256fs	SAMD4A_ENST00000357634.3_Frame_Shift_Del_p.TP255fs|SAMD4A_ENST00000251091.5_Intron|SAMD4A_ENST00000392067.3_Frame_Shift_Del_p.TP256fs			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	256					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.T255fs*3(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TGTGTCCCTTACCCCACCCATGAA	0.51																																					p.255_256del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.763_766del	14						.																																			54273545	SO:0001589	frameshift_variant	23034	exon3			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.766_769delACCC	14.37:g.55203792_55203795delACCC	ENSP00000452535:p.Thr256fs	Somatic		Capture	SOLID	Phase_I	54273542	NM_015589	A8MPZ5|Q0VA96|Q6PEW4	Frame_Shift_Del	DEL	ENST00000554335.1	37	CCDS32084.2																																																																																				0.510	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589	
C14orf37	145407	hgsc.bcm.edu	37	14	58605278	58605278	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:58605278C>T	ENST00000267485.7	-	2	993	c.799G>A	c.(799-801)Gct>Act	p.A267T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	267						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GTGGCAGCAGCCTGGGTGTTA	0.542																																					p.A267T												.	.	0			c.G799A	14						.						72.0	69.0	70.0					14																	58605278		2203	4300	6503	57675031	SO:0001583	missense	145407	exon2				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.799G>A	14.37:g.58605278C>T	ENSP00000267485:p.Ala267Thr	Somatic		Capture	SOLID	Phase_I	57675031	NM_001001872	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	7.653	0.683372	0.14907	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.22134	1.97	5.97	0.51	0.16983	.	1.031010	0.07628	N	0.928115	T	0.11922	0.0290	L	0.27053	0.805	0.09310	N	0.999999	B;B;B;B	0.28350	0.041;0.208;0.041;0.041	B;B;B;B	0.22152	0.016;0.038;0.016;0.016	T	0.34254	-0.9836	10	0.25106	T	0.35	-0.3235	3.44	0.07460	0.2103:0.4059:0.0:0.3839	.	305;267;267;267	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	T	267;305	ENSP00000267485:A267T	ENSP00000267485:A267T	A	-	1	0	C14orf37	57675031	0.000000	0.05858	0.121000	0.21740	0.015000	0.08874	-1.010000	0.03656	0.012000	0.14892	0.655000	0.94253	GCT		0.542	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872	
RHOJ	57381	hgsc.bcm.edu	37	14	63735879	63735879	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:63735879C>T	ENST00000316754.3	+	2	692	c.230C>T	c.(229-231)gCg>gTg	p.A77V	RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Missense_Mutation_p.A77V	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	77					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A77V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		TATGACACCGCGGGACAGGTA	0.458																																					p.A77V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C230T	14						.						143.0	126.0	132.0					14																	63735879		2203	4300	6503	62805632	SO:0001583	missense	57381	exon2			AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.230C>T	14.37:g.63735879C>T	ENSP00000316729:p.Ala77Val	Somatic		Capture	SOLID	Phase_I	62805632	NM_020663	Q96KC1	Missense_Mutation	SNP	ENST00000316754.3	37	CCDS9757.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810669	0.90707	.	.	ENSG00000126785	ENST00000316754;ENST00000555125	D;D	0.88818	-2.43;-2.43	5.2	5.2	0.72013	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95987	0.8693	H	0.97540	4.025	0.80722	D	1	D	0.76494	0.999	P	0.58873	0.847	D	0.97401	0.9996	10	0.87932	D	0	.	16.6027	0.84820	0.0:1.0:0.0:0.0	.	77	Q9H4E5	RHOJ_HUMAN	V	77	ENSP00000316729:A77V;ENSP00000451643:A77V	ENSP00000316729:A77V	A	+	2	0	RHOJ	62805632	1.000000	0.71417	0.808000	0.32385	0.852000	0.48524	4.864000	0.62990	2.599000	0.87857	0.655000	0.94253	GCG		0.458	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3		
PPP2R5E	5529	hgsc.bcm.edu	37	14	63848858	63848858	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:63848858A>G	ENST00000337537.3	-	13	1822	c.1220T>C	c.(1219-1221)gTg>gCg	p.V407A	PPP2R5E_ENST00000555899.1_Missense_Mutation_p.V407A|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.V331A	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	407					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.V407A(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CACATTGTACACCAACGCCAC	0.398																																					p.V407A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1220C	14						.						119.0	88.0	98.0					14																	63848858		2203	4300	6503	62918611	SO:0001583	missense	5529	exon13			L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.1220T>C	14.37:g.63848858A>G	ENSP00000337641:p.Val407Ala	Somatic		Capture	SOLID	Phase_I	62918611	NM_006246	A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.681446	0.68042	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.4	5.4	0.78164	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	L	0.49513	1.565	0.80722	D	1	B;P	0.41265	0.158;0.744	B;P	0.49922	0.063;0.626	T	0.71852	-0.4467	9	0.87932	D	0	-7.2695	15.7304	0.77800	1.0:0.0:0.0:0.0	.	407;407	B7ZKK9;Q16537	.;2A5E_HUMAN	A	407;407;331	.	ENSP00000337641:V407A	V	-	2	0	PPP2R5E	62918611	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	9.287000	0.95975	2.184000	0.69523	0.528000	0.53228	GTG		0.398	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246	
ARG2	384	hgsc.bcm.edu	37	14	68109067	68109069	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	GGA	GGA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:68109067_68109069delGGA	ENST00000261783.3	+	3	529_531	c.349_351delGGA	c.(349-351)ggadel	p.G118del	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	118					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)	p.G117delG(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TGTCACACTGGGAGGAGACCACA	0.527																																					p.117_117del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.349_351del	14						.																																			67178822	SO:0001651	inframe_deletion	384	exon3			D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.349_351delGGA	14.37:g.68109070_68109072delGGA	ENSP00000261783:p.Gly118del	Somatic		Capture	SOLID	Phase_I	67178820	NM_001172	B2R690|Q6FHY8	In_Frame_Del	DEL	ENST00000261783.3	37	CCDS9785.1																																																																																				0.527	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172	
MAP3K9	4293	hgsc.bcm.edu	37	14	71199705	71199705	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:71199705C>T	ENST00000554752.2	-	11	2380	c.2381G>A	c.(2380-2382)cGg>cAg	p.R794Q	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R527Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R522Q|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R808Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R771Q	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	794					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R808Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AAGACCCTCCCGTCTTTTCTT	0.607																																					p.R808Q	GBM(114;411 1587 13539 28235 50070)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2423A	14						.						48.0	47.0	47.0					14																	71199705		2203	4300	6503	70269458	SO:0001583	missense	4293	exon12			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2381G>A	14.37:g.71199705C>T	ENSP00000451612:p.Arg794Gln	Somatic		Capture	SOLID	Phase_I	70269458	NM_033141	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37		.	.	.	.	.	.	.	.	.	.	C	15.48	2.844655	0.51164	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.29	4.4	0.53042	.	0.115279	0.64402	D	0.000010	T	0.42698	0.1214	L	0.49778	1.585	0.24864	N	0.992325	D;P;D;D	0.69078	0.988;0.856;0.959;0.997	P;B;P;P	0.59171	0.628;0.211;0.483;0.853	T	0.21965	-1.0230	10	0.14252	T	0.57	.	9.6788	0.40056	0.0:0.8458:0.0:0.1542	.	522;794;808;527	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	Q	794;808;527;771;522;510	ENSP00000451612:R794Q;ENSP00000451038:R527Q;ENSP00000370649:R771Q;ENSP00000451921:R522Q	ENSP00000005198:R808Q	R	-	2	0	MAP3K9	70269458	0.859000	0.29813	0.980000	0.43619	0.572000	0.35998	2.511000	0.45476	2.478000	0.83669	0.561000	0.74099	CGG		0.607	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2		
PCNX	22990	hgsc.bcm.edu	37	14	71514525	71514525	+	Splice_Site	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:71514525T>A	ENST00000304743.2	+	22	4608	c.4162T>A	c.(4162-4164)Tta>Ata	p.L1388I	PCNX_ENST00000439984.3_Splice_Site_p.L1277I|PCNX_ENST00000238570.5_Splice_Site_p.L1388I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1388						integral component of membrane (GO:0016021)		p.L1388I(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTGCCACAGATTAGGTGCTTT	0.343																																					p.L1388I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4162A	14						.						197.0	168.0	178.0					14																	71514525		2202	4300	6502	70584278	SO:0001630	splice_region_variant	22990	exon22			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4161-1T>A	14.37:g.71514525T>A		Somatic		Capture	SOLID	Phase_I	70584278	NM_014982	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.42|11.42	1.634894|1.634894	0.29068|0.29068	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.10382|.	3.34;3.34;2.88|.	5.23|5.23	-1.02|-1.02	0.10135|0.10135	.|.	0.278938|.	0.32273|.	N|.	0.006336|.	T|T	0.34048|0.34048	0.0884|0.0884	N|N	0.12471|0.12471	0.22|0.22	0.38556|0.38556	D|D	0.949572|0.949572	B;B;B|.	0.18013|.	0.003;0.025;0.024|.	B;B;B|.	0.20955|.	0.004;0.032;0.005|.	T|T	0.12142|0.12142	-1.0559|-1.0559	10|5	0.18276|.	T|.	0.48|.	.|.	10.656|10.656	0.45675|0.45675	0.0:0.4333:0.0:0.5667|0.0:0.4333:0.0:0.5667	.|.	1388;1277;1388|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	I|K	1388;1388;1277|446	ENSP00000304192:L1388I;ENSP00000238570:L1388I;ENSP00000396617:L1277I|.	ENSP00000238570:L1388I|.	L|N	+|+	1|3	2|2	PCNX|PCNX	70584278|70584278	0.006000|0.006000	0.16342|0.16342	0.932000|0.932000	0.37286|0.37286	0.698000|0.698000	0.40448|0.40448	-0.398000|-0.398000	0.07259|0.07259	-0.119000|-0.119000	0.11830|0.11830	0.482000|0.482000	0.46254|0.46254	TTA|AAT		0.343	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	Missense_Mutation
SIPA1L1	26037	hgsc.bcm.edu	37	14	72055093	72055093	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:72055093C>T	ENST00000555818.1	+	2	852	c.504C>T	c.(502-504)cgC>cgT	p.R168R	SIPA1L1_ENST00000381232.3_Silent_p.R168R|SIPA1L1_ENST00000358550.2_Silent_p.R168R	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	168					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R168R(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAGCTCTTCGCAGAATACGCC	0.468																																					p.R168R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C504T	14						.						73.0	67.0	69.0					14																	72055093		2203	4300	6503	71124846	SO:0001819	synonymous_variant	26037	exon2			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.504C>T	14.37:g.72055093C>T		Somatic		Capture	SOLID	Phase_I	71124846	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	CCDS9807.1																																																																																				0.468	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
ELMSAN1	91748	hgsc.bcm.edu	37	14	74205710	74205710	+	Silent	SNP	C	C	T	rs144468201		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:74205710C>T	ENST00000286523.5	-	2	1784	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	ELMSAN1_ENST00000394071.2_Silent_p.A334A|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	334	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A334A(1)									CCTGAGGTAGCGCTGGCTGCG	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		12629	0.0		0.001	False		,,,				2504	0.0				p.A334A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1002A	14						.	C	,	1,4401		0,1,2200	23.0	25.0	24.0		1002,1002	3.8	1.0	14	dbSNP_134	24	4,8592		0,4,4294	no	coding-synonymous,coding-synonymous	C14orf43	NM_001043318.1,NM_194278.3	,	0,5,6494	TT,TC,CC		0.0465,0.0227,0.0385	,	334/1046,334/1046	74205710	5,12993	2201	4298	6499	73275463	SO:0001819	synonymous_variant	91748	exon2			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1002G>A	14.37:g.74205710C>T		Somatic		Capture	SOLID	Phase_I	73275463	NM_001043318	Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	CCDS9819.1																																																																																				0.672	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278	
VRTN	55237	hgsc.bcm.edu	37	14	74823966	74823966	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:74823966C>T	ENST00000256362.4	+	2	721	c.480C>T	c.(478-480)gaC>gaT	p.D160D		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	160					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.D160D(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TCGATGCCGACGTCAAGGCCT	0.602																																					p.D160D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C480T	14						.						97.0	91.0	93.0					14																	74823966		2203	4300	6503	73893719	SO:0001819	synonymous_variant	55237	exon2			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.480C>T	14.37:g.74823966C>T		Somatic		Capture	SOLID	Phase_I	73893719	NM_018228	Q9NVC7	Silent	SNP	ENST00000256362.4	37	CCDS9830.1																																																																																				0.602	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228	
NEK9	91754	hgsc.bcm.edu	37	14	75562107	75562107	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:75562107C>T	ENST00000238616.5	-	18	2359	c.2201G>A	c.(2200-2202)cGt>cAt	p.R734H		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	734	Interaction with NEK6.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R734H(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GCTATTGGAACGGATGGTCTT	0.383																																					p.R734H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2201A	14						.						84.0	84.0	84.0					14																	75562107		2203	4300	6503	74631860	SO:0001583	missense	91754	exon18			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2201G>A	14.37:g.75562107C>T	ENSP00000238616:p.Arg734His	Somatic		Capture	SOLID	Phase_I	74631860	NM_033116	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	C	36	5.813145	0.96975	.	.	ENSG00000119638	ENST00000238616	T	0.75367	-0.93	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.80894	0.4711	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.82382	-0.0485	10	0.72032	D	0.01	.	20.1092	0.97906	0.0:1.0:0.0:0.0	.	734;77	Q8TD19;Q6PKF2	NEK9_HUMAN;.	H	734	ENSP00000238616:R734H	ENSP00000238616:R734H	R	-	2	0	NEK9	74631860	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.745000	0.94114	0.655000	0.94253	CGT		0.383	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116	
ISM2	145501	hgsc.bcm.edu	37	14	77944991	77944991	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:77944991C>T	ENST00000342219.4	-	5	1097	c.1041G>A	c.(1039-1041)caG>caA	p.Q347Q	ISM2_ENST00000429906.1_Silent_p.Q266Q|ISM2_ENST00000493585.1_Missense_Mutation_p.S232N|ISM2_ENST00000393684.3_Silent_p.Q259Q|ISM2_ENST00000412904.1_Silent_p.Q266Q	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	347	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular region (GO:0005576)		p.Q347Q(1)		endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GAGTCCTCTGCTGCTTGCCAG	0.612																																					p.S232N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G695A	14						.						98.0	83.0	88.0					14																	77944991		2203	4300	6503	77014744	SO:0001819	synonymous_variant	145501	exon4			AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1041G>A	14.37:g.77944991C>T		Somatic		Capture	SOLID	Phase_I	77014744	NM_182509	A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	7.617	0.676110	0.14841	.	.	ENSG00000100593	ENST00000493585	T	0.37058	1.22	5.14	4.24	0.50183	.	.	.	.	.	T	0.46776	0.1410	.	.	.	0.80722	D	1	P	0.51933	0.949	P	0.51701	0.677	T	0.51309	-0.8722	8	0.87932	D	0	-0.507	13.0262	0.58817	0.0:0.9221:0.0:0.0779	.	232	Q6H9L7-2	.	N	232	ENSP00000420452:S232N	ENSP00000420452:S232N	S	-	2	0	ISM2	77014744	1.000000	0.71417	0.569000	0.28460	0.007000	0.05969	2.551000	0.45820	2.396000	0.81511	0.655000	0.94253	AGC		0.612	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509	
SNW1	22938	hgsc.bcm.edu	37	14	78217769	78217769	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:78217769C>T	ENST00000261531.7	-	3	285	c.223G>A	c.(223-225)Gat>Aat	p.D75N	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.D75N	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	75	Interaction with PPIL1.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)	p.D75N(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CGTCCCATATCCAGTGGATAC	0.388																																					p.D75N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G223A	14						.						94.0	101.0	99.0					14																	78217769		2203	4300	6503	77287522	SO:0001583	missense	22938	exon3			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.223G>A	14.37:g.78217769C>T	ENSP00000261531:p.Asp75Asn	Somatic		Capture	SOLID	Phase_I	77287522	NM_012245	A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830732	0.71258	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	5.9	5.9	0.94986	.	0.090202	0.85682	D	0.000000	T	0.55465	0.1922	L	0.43152	1.355	0.80722	D	1	B;P	0.40000	0.036;0.698	B;B	0.41036	0.03;0.346	T	0.47156	-0.9139	9	0.22109	T	0.4	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	75;75	G3V3A4;Q13573	.;SNW1_HUMAN	N	75	.	ENSP00000261531:D75N	D	-	1	0	SNW1	77287522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.808000	0.96608	0.650000	0.86243	GAT		0.388	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245	
ADCK1	57143	hgsc.bcm.edu	37	14	78285392	78285392	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:78285392A>G	ENST00000238561.5	+	2	170	c.71A>G	c.(70-72)tAc>tGc	p.Y24C	Y_RNA_ENST00000362570.1_RNA|ADCK1_ENST00000341211.5_Missense_Mutation_p.Y24C	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	24						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y24C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATCTACTTCTACAGTAACAAG	0.517																																					p.Y24C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A71G	14						.						121.0	110.0	114.0					14																	78285392		2203	4300	6503	77355145	SO:0001583	missense	57143	exon2			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.71A>G	14.37:g.78285392A>G	ENSP00000238561:p.Tyr24Cys	Somatic		Capture	SOLID	Phase_I	77355145	NM_001142545	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.289726	0.40494	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.81415	-0.27;-1.49;1.1	5.45	4.29	0.51040	.	0.144838	0.47852	D	0.000210	T	0.69205	0.3085	L	0.34521	1.04	0.21499	N	0.999664	B;B	0.25609	0.011;0.13	B;B	0.24269	0.008;0.052	T	0.60372	-0.7276	10	0.41790	T	0.15	-21.3707	9.3515	0.38140	0.915:0.0:0.085:0.0	.	24;24	Q9UIE6;Q86TW2-2	.;.	C	24	ENSP00000238561:Y24C;ENSP00000451549:Y24C;ENSP00000339663:Y24C	ENSP00000238561:Y24C	Y	+	2	0	ADCK1	77355145	0.984000	0.35163	1.000000	0.80357	0.968000	0.65278	3.610000	0.54125	2.059000	0.61396	0.455000	0.32223	TAC		0.517	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421	
NRXN3	9369	hgsc.bcm.edu	37	14	80328136	80328136	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:80328136C>T	ENST00000557594.1	+	6	2696	c.1743C>T	c.(1741-1743)taC>taT	p.Y581Y	NRXN3_ENST00000428277.2_Silent_p.Y403Y|NRXN3_ENST00000335750.5_Silent_p.Y1005Y|NRXN3_ENST00000554719.1_Silent_p.Y1005Y|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Silent_p.Y376Y	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	581					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.Y1005Y(2)|p.Y403Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCCTCCTGTACGCCATGTACA	0.597																																					p.Y376Y												.	.	3	Substitution - coding silent(3)	large_intestine(2)|pancreas(1)	c.C1128T	14						.						73.0	64.0	67.0					14																	80328136		2203	4300	6503	79397889	SO:0001819	synonymous_variant	9369	exon6			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1743C>T	14.37:g.80328136C>T		Somatic		Capture	SOLID	Phase_I	79397889	NM_138970	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000557594.1	37																																																																																					0.597	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250	
GTF2A1	2957	hgsc.bcm.edu	37	14	81670418	81670418	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:81670418C>T	ENST00000553612.1	-	3	566	c.163G>A	c.(163-165)Gca>Aca	p.A55T	SNORA79_ENST00000408376.1_RNA|GTF2A1_ENST00000434192.2_Missense_Mutation_p.A16T	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	55					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A55T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		CCATCTACTGCCCTGGACTGC	0.408																																					p.A55T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G163A	14						.						140.0	94.0	109.0					14																	81670418		2203	4300	6503	80740171	SO:0001583	missense	2957	exon3			X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.163G>A	14.37:g.81670418C>T	ENSP00000452454:p.Ala55Thr	Somatic		Capture	SOLID	Phase_I	80740171	NM_015859	Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	37	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348226	0.95807	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.54479	0.57;0.57	5.55	5.55	0.83447	Transcription factor IIA, alpha subunit, N-terminal (1);	0.050193	0.85682	D	0.000000	T	0.74772	0.3760	M	0.79614	2.46	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.77557	0.99;0.989	T	0.76683	-0.2869	10	0.62326	D	0.03	-15.2843	19.5094	0.95135	0.0:1.0:0.0:0.0	.	16;55	P52655-2;P52655	.;TF2AA_HUMAN	T	55;16;16	ENSP00000452454:A55T;ENSP00000409492:A16T	ENSP00000298173:A55T	A	-	1	0	GTF2A1	80740171	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.082000	0.76851	2.609000	0.88269	0.563000	0.77884	GCA		0.408	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859	
NRDE2	55051	hgsc.bcm.edu	37	14	90782986	90782986	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:90782986C>T	ENST00000354366.3	-	3	575	c.343G>A	c.(343-345)Gat>Aat	p.D115N	NRDE2_ENST00000557106.1_5'UTR|NRDE2_ENST00000357904.3_Intron	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	115								p.D115N(3)									TTTTCAGAATCGGTGTCTGTC	0.428																																					p.D115N												.	.	3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	c.G343A	14						.						239.0	226.0	230.0					14																	90782986		2203	4300	6503	89852739	SO:0001583	missense	55051	exon3			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.343G>A	14.37:g.90782986C>T	ENSP00000346335:p.Asp115Asn	Somatic		Capture	SOLID	Phase_I	89852739	NM_017970	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159227	0.38119	.	.	ENSG00000119720	ENST00000354366	T	0.23950	1.88	5.3	5.3	0.74995	.	0.797515	0.12098	N	0.499775	T	0.18593	0.0446	L	0.47716	1.5	0.48975	D	0.999738	P	0.39782	0.688	B	0.28305	0.088	T	0.03619	-1.1019	10	0.18276	T	0.48	-14.9656	10.4224	0.44359	0.0:0.9102:0.0:0.0898	.	115	Q9H7Z3	CN102_HUMAN	N	115	ENSP00000346335:D115N	ENSP00000346335:D115N	D	-	1	0	C14orf102	89852739	0.884000	0.30299	0.065000	0.19835	0.043000	0.13939	2.765000	0.47621	2.627000	0.88993	0.655000	0.94253	GAT		0.428	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970	
CPSF2	53981	hgsc.bcm.edu	37	14	92609453	92609453	+	Missense_Mutation	SNP	C	C	T	rs112871231		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:92609453C>T	ENST00000298875.4	+	9	1240	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	319					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)	p.R319C(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TGACTTGGCCCGTGTACCTAG	0.423																																					p.R319C	Ovarian(78;28 1788 18702 44111)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C955T	14						.						104.0	88.0	94.0					14																	92609453		2203	4300	6503	91679206	SO:0001583	missense	53981	exon9			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.955C>T	14.37:g.92609453C>T	ENSP00000298875:p.Arg319Cys	Somatic		Capture	SOLID	Phase_I	91679206	NM_017437	B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019403	0.75275	.	.	ENSG00000165934	ENST00000298875	T	0.48522	0.81	4.99	4.1	0.47936	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.72067	-0.4402	10	0.66056	D	0.02	.	13.7559	0.62937	0.0:0.9252:0.0:0.0748	.	319	Q9P2I0	CPSF2_HUMAN	C	319	ENSP00000298875:R319C	ENSP00000298875:R319C	R	+	1	0	CPSF2	91679206	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	4.691000	0.61738	1.226000	0.43582	0.491000	0.48974	CGT		0.423	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1		
UNC79	57578	hgsc.bcm.edu	37	14	94044315	94044315	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:94044315G>A	ENST00000393151.2	+	18	2339	c.2339G>A	c.(2338-2340)gGa>gAa	p.G780E	UNC79_ENST00000553484.1_Missense_Mutation_p.G780E|UNC79_ENST00000555664.1_Missense_Mutation_p.G780E|UNC79_ENST00000256339.4_Missense_Mutation_p.G603E			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	780					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G603E(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGAATTTTGGACACCCAGGA	0.423																																					p.G603E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1808A	14						.						190.0	177.0	181.0					14																	94044315		2203	4300	6503	93114068	SO:0001583	missense	57578	exon18			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2339G>A	14.37:g.94044315G>A	ENSP00000376858:p.Gly780Glu	Somatic		Capture	SOLID	Phase_I	93114068	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	15.81	2.943117	0.53079	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18338	2.23;2.22;2.22;2.22	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.22859	0.0552	N	0.19112	0.55	0.49915	D	0.999834	D	0.69078	0.997	D	0.64506	0.926	T	0.01252	-1.1405	10	0.02654	T	1	-15.5562	19.0159	0.92894	0.0:0.0:1.0:0.0	.	780	C9JQL1	.	E	603;780;780;780;780	ENSP00000256339:G603E;ENSP00000450868:G780E;ENSP00000451360:G780E;ENSP00000376858:G780E	ENSP00000256339:G603E	G	+	2	0	KIAA1409	93114068	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.809000	0.99208	2.502000	0.84385	0.650000	0.86243	GGA		0.423	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
SERPINA12	145264	hgsc.bcm.edu	37	14	94964682	94964682	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:94964682T>C	ENST00000341228.2	-	3	848	c.53A>G	c.(52-54)aAa>aGa	p.K18R	SERPINA12_ENST00000556881.1_Missense_Mutation_p.K18R	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	18					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K18R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TAGAAGACCTTTCACCGTGAG	0.488																																					p.K18R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A53G	14						.						95.0	97.0	96.0					14																	94964682		2203	4300	6503	94034435	SO:0001583	missense	145264	exon3			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.53A>G	14.37:g.94964682T>C	ENSP00000342109:p.Lys18Arg	Somatic		Capture	SOLID	Phase_I	94034435	NM_173850		Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.694042	0.48202	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.87334	-2.24;-2.24	5.75	5.75	0.90469	Serpin domain (1);	1.345350	0.04616	N	0.401192	T	0.76842	0.4044	N	0.08118	0	0.09310	N	1	B	0.31519	0.327	B	0.21360	0.034	T	0.60890	-0.7173	10	0.16420	T	0.52	.	14.8727	0.70471	0.0:0.0:0.0:1.0	.	18	Q8IW75	SPA12_HUMAN	R	18	ENSP00000451738:K18R;ENSP00000342109:K18R	ENSP00000342109:K18R	K	-	2	0	SERPINA12	94034435	0.000000	0.05858	0.038000	0.18304	0.067000	0.16453	0.509000	0.22707	2.200000	0.70718	0.533000	0.62120	AAA		0.488	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850	
SERPINA3	12	hgsc.bcm.edu	37	14	95088718	95088718	+	Silent	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:95088718A>C	ENST00000467132.1	+	4	2106	c.958A>C	c.(958-960)Agg>Cgg	p.R320R	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Silent_p.R320R|SERPINA3_ENST00000482740.1_Silent_p.R102R|SERPINA3_ENST00000393080.4_Silent_p.R320R			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	320					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTCCATCTCGAGGGACTATAA	0.502																																					p.R320R												.	.	0			c.A958C	14						.						135.0	123.0	127.0					14																	95088718		2203	4300	6503	94158471	SO:0001819	synonymous_variant	12	exon4			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.958A>C	14.37:g.95088718A>C		Somatic		Capture	SOLID	Phase_I	94158471	NM_001085	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Silent	SNP	ENST00000467132.1	37	CCDS32150.1																																																																																				0.502	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085	
PAPOLA	10914	hgsc.bcm.edu	37	14	97022718	97022718	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:97022718G>A	ENST00000216277.8	+	19	2192	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E658K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	658					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.E658K(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCTCATAAAGAAGAGAGTCC	0.388																																					p.E658K	NSCLC(19;254 734 11908 35501 39234)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1972A	14						.						108.0	112.0	111.0					14																	97022718		2203	4300	6503	96092471	SO:0001583	missense	10914	exon19			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1972G>A	14.37:g.97022718G>A	ENSP00000216277:p.Glu658Lys	Somatic		Capture	SOLID	Phase_I	96092471	NM_032632	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265107	0.80358	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	6.1	6.1	0.99115	.	0.107684	0.64402	D	0.000005	T	0.57932	0.2087	M	0.64997	1.995	0.48762	D	0.999705	P;P;P	0.41673	0.759;0.646;0.646	B;B;B	0.37239	0.244;0.124;0.124	T	0.57081	-0.7872	9	0.34782	T	0.22	.	20.7146	0.99709	0.0:0.0:1.0:0.0	.	674;674;658	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	K	658;674;658;408	.	ENSP00000216277:E658K	E	+	1	0	PAPOLA	96092471	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.830000	0.69324	2.902000	0.99343	0.650000	0.86243	GAA		0.388	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2		
CDC42BPB	9578	hgsc.bcm.edu	37	14	103474867	103474867	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr14:103474867G>A	ENST00000361246.2	-	3	581	c.293C>T	c.(292-294)aCt>aTt	p.T98I		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.T98I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AATTCGTTCAGTATTCTTCAT	0.428																																					p.T98I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C293T	14						.						154.0	136.0	142.0					14																	103474867		2202	4299	6501	102544620	SO:0001583	missense	9578	exon3			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.293C>T	14.37:g.103474867G>A	ENSP00000355237:p.Thr98Ile	Somatic		Capture	SOLID	Phase_I	102544620	NM_006035		Missense_Mutation	SNP	ENST00000361246.2	37	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001927	0.93227	.	.	ENSG00000198752	ENST00000361246	T	0.49139	0.79	5.37	5.37	0.77165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	M	0.90483	3.12	0.80722	D	1	D	0.62365	0.991	D	0.69142	0.962	T	0.80551	-0.1332	10	0.87932	D	0	.	19.5246	0.95199	0.0:0.0:1.0:0.0	.	98	Q9Y5S2	MRCKB_HUMAN	I	98	ENSP00000355237:T98I	ENSP00000355237:T98I	T	-	2	0	CDC42BPB	102544620	1.000000	0.71417	0.994000	0.49952	0.918000	0.54935	9.595000	0.98260	2.695000	0.91970	0.650000	0.86243	ACT		0.428	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	
PI4KA	5297	hgsc.bcm.edu	37	22	21072002	21072002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:21072002G>A	ENST00000572273.1	-	45	5367	c.5137C>T	c.(5137-5139)Cag>Tag	p.Q1713*	PI4KA_ENST00000255882.6_Nonsense_Mutation_p.Q1771*|PI4KA_ENST00000414196.3_Nonsense_Mutation_p.Q523*			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1713	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity. {ECO:0000250}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.Q1713*(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCACCCGGCTGCACCTTCACT	0.592																																					p.Q523X	GBM(136;1332 1831 3115 23601 50806)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1567T	22						.						72.0	57.0	62.0					22																	21072002		2202	4297	6499	19402002	SO:0001587	stop_gained	5297	exon13			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5137C>T	22.37:g.21072002G>A	ENSP00000458238:p.Gln1713*	Somatic		Capture	SOLID	Phase_I	19402002	NM_002650	Q7Z625|Q9UPG2	Nonsense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	G	40	8.514222	0.98843	.	.	ENSG00000241973	ENST00000255882;ENST00000414196;ENST00000399213	.	.	.	5.7	5.7	0.88788	.	0.102348	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-26.862	19.8212	0.96595	0.0:0.0:1.0:0.0	.	.	.	.	X	1713;523;106	.	ENSP00000255882:Q1713X	Q	-	1	0	PI4KA	19402002	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.375000	0.79646	2.694000	0.91930	0.650000	0.86243	CAG		0.592	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
PPM1F	9647	hgsc.bcm.edu	37	22	22293947	22293947	+	Silent	SNP	T	T	C	rs145320786		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:22293947T>C	ENST00000263212.5	-	3	417	c.312A>G	c.(310-312)gaA>gaG	p.E104E	PPM1F_ENST00000407142.1_5'Flank|LL22NC03-86G7.1_ENST00000458178.1_RNA|LL22NC03-86G7.1_ENST00000538634.1_RNA|PPM1F_ENST00000538191.1_5'Flank|PPM1F_ENST00000397495.4_Silent_p.E104E|PPM1F_ENST00000486259.1_5'Flank	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	104	Poly-Glu.				cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)	p.E104E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		cctcctcctcttcttcttcct	0.572																																					p.E104E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A312G	22						.	T		0,4404		0,0,2202	117.0	89.0	98.0		312	-4.7	0.1	22	dbSNP_134	98	2,8592		0,2,4295	no	coding-synonymous	PPM1F	NM_014634.3		0,2,6497	CC,CT,TT		0.0233,0.0,0.0154		104/455	22293947	2,12996	2202	4297	6499	20623947	SO:0001819	synonymous_variant	9647	exon3			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.312A>G	22.37:g.22293947T>C		Somatic		Capture	SOLID	Phase_I	20623947	NM_014634	A8K6G3|B7Z2C3|Q96PM2	Silent	SNP	ENST00000263212.5	37	CCDS13796.1																																																																																				0.572	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634	
CABIN1	23523	hgsc.bcm.edu	37	22	24460606	24460606	+	Missense_Mutation	SNP	C	C	T	rs138795791	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:24460606C>T	ENST00000398319.2	+	15	2378	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	CABIN1_ENST00000405822.2_Missense_Mutation_p.R615W|CABIN1_ENST00000263119.5_Missense_Mutation_p.R665W	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	665					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R665W(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CATTGTCATCCGGCTGCCCAA	0.502													C|||	3	0.000599042	0.0	0.0014	5008	,	,		20905	0.0		0.0	False		,,,				2504	0.002				p.R665W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1993T	22						.	C	TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	195.0	163.0	174.0		1993,1843,1993	4.6	1.0	22	dbSNP_134	174	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense	CABIN1	NM_001199281.1,NM_001201429.1,NM_012295.3	101,101,101	0,8,6495	TT,TC,CC		0.0698,0.0454,0.0615	probably-damaging,probably-damaging,probably-damaging	665/2221,615/2171,665/2221	24460606	8,12998	2203	4300	6503	22790606	SO:0001583	missense	23523	exon15			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1993C>T	22.37:g.24460606C>T	ENSP00000381364:p.Arg665Trp	Somatic		Capture	SOLID	Phase_I	22790606	NM_001199281	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	20.8	4.055611	0.75960	4.54E-4	6.98E-4	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.35789	1.29;1.29;1.29	5.71	4.63	0.57726	.	0.049852	0.85682	D	0.000000	T	0.46367	0.1389	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.642	T	0.34079	-0.9843	10	0.59425	D	0.04	.	13.0108	0.58729	0.2739:0.7261:0.0:0.0	.	615;665	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	W	665;615;665	ENSP00000263119:R665W;ENSP00000384694:R615W;ENSP00000381364:R665W	ENSP00000263119:R665W	R	+	1	2	CABIN1	22790606	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.124000	0.42006	2.880000	0.98712	0.650000	0.86243	CGG		0.502	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	
CRYBB1	1414	hgsc.bcm.edu	37	22	26997911	26997911	+	Silent	SNP	G	G	A	rs549883505		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:26997911G>A	ENST00000215939.2	-	5	637	c.507C>T	c.(505-507)gaC>gaT	p.D169D		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	169	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.D169D(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGGGTGCGTCGTCCCCCTGGA	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16769	0.0		0.0	False		,,,				2504	0.0				p.D169D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507T	22						.						103.0	76.0	85.0					22																	26997911		2203	4300	6503	25327911	SO:0001819	synonymous_variant	1414	exon5				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.507C>T	22.37:g.26997911G>A		Somatic		Capture	SOLID	Phase_I	25327911	NM_001887		Silent	SNP	ENST00000215939.2	37	CCDS13840.1																																																																																				0.612	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887	
MTMR3	8897	hgsc.bcm.edu	37	22	30418071	30418071	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:30418071C>T	ENST00000401950.2	+	18	3621	c.3279C>T	c.(3277-3279)tgC>tgT	p.C1093C	MTMR3_ENST00000333027.3_Intron|MTMR3_ENST00000351488.3_Intron|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Silent_p.C957C|MTMR3_ENST00000406629.1_Intron|CTA-85E5.10_ENST00000429350.1_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1093					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.C1093C(2)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGTCTCGCTGCAGCACAGAGA	0.502																																					p.C1093C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3279T	22						.						89.0	82.0	85.0					22																	30418071		2203	4300	6503	28748071	SO:0001819	synonymous_variant	8897	exon18			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.3279C>T	22.37:g.30418071C>T		Somatic		Capture	SOLID	Phase_I	28748071	NM_021090	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	CCDS13870.1																																																																																				0.502	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090	
HMOX1	3162	hgsc.bcm.edu	37	22	35782872	35782872	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:35782872C>T	ENST00000216117.8	+	3	678	c.339C>T	c.(337-339)cgC>cgT	p.R113R		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	113					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	CCATGCAGCGCTATGTGAAGC	0.682																																					p.R113R												.	.	0			c.C339T	22						.						46.0	50.0	48.0					22																	35782872		2203	4300	6503	34112872	SO:0001819	synonymous_variant	3162	exon3				CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.339C>T	22.37:g.35782872C>T		Somatic		Capture	SOLID	Phase_I	34112872	NM_002133		Silent	SNP	ENST00000216117.8	37	CCDS13914.1																																																																																				0.682	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1		
MCM5	4174	hgsc.bcm.edu	37	22	35817330	35817330	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:35817330C>T	ENST00000216122.4	+	15	2006	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	MCM5_ENST00000382011.5_Missense_Mutation_p.R575C	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	618					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.R618delR(1)|p.R618C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGCCATTGTGCGCATCGCGGA	0.642																																					p.R618C												.	.	2	Substitution - Missense(1)|Deletion - In frame(1)	large_intestine(1)|ovary(1)	c.C1852T	22						.						53.0	48.0	50.0					22																	35817330		2203	4300	6503	34147330	SO:0001583	missense	4174	exon15				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1852C>T	22.37:g.35817330C>T	ENSP00000216122:p.Arg618Cys	Somatic		Capture	SOLID	Phase_I	34147330	NM_006739	O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636461	0.67130	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.15487	2.42;2.42	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	H	0.99890	4.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82396	-0.0478	10	0.87932	D	0	-21.2079	14.9241	0.70862	0.1436:0.8564:0.0:0.0	.	618;618;575;618	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	C	618;575	ENSP00000216122:R618C;ENSP00000371441:R575C	ENSP00000216122:R618C	R	+	1	0	MCM5	34147330	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	5.452000	0.66638	2.561000	0.86390	0.561000	0.74099	CGC		0.642	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3		
CACNG2	10369	hgsc.bcm.edu	37	22	37098580	37098580	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:37098580G>A	ENST00000300105.6	-	1	1023	c.42C>T	c.(40-42)acC>acT	p.T14T	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	14					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.T14T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AAGCACCAACGGTGGTTAAAA	0.483																																					p.T14T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C42T	22						.						155.0	144.0	148.0					22																	37098580		2203	4300	6503	35428526	SO:0001819	synonymous_variant	10369	exon1			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.42C>T	22.37:g.37098580G>A		Somatic		Capture	SOLID	Phase_I	35428526	NM_006078	Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	CCDS13931.1																																																																																				0.483	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2		
SOX10	6663	hgsc.bcm.edu	37	22	38369571	38369571	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:38369571G>T	ENST00000396884.2	-	4	1614	c.1332C>A	c.(1330-1332)ccC>ccA	p.P444P	SOX10_ENST00000360880.2_Silent_p.P444P|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	444					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)	p.P444P(1)		NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GGGGCCCTGAGGGGCTGGGGT	0.672																																					p.P444P	Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1332A	22						.						16.0	20.0	19.0					22																	38369571		2193	4292	6485	36699517	SO:0001819	synonymous_variant	6663	exon4				CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.1332C>A	22.37:g.38369571G>T		Somatic		Capture	SOLID	Phase_I	36699517	NM_006941	B4DV62|Q6FHW7	Silent	SNP	ENST00000396884.2	37	CCDS13964.1																																																																																				0.672	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941	
EP300	2033	hgsc.bcm.edu	37	22	41573590	41573590	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:41573590A>G	ENST00000263253.7	+	31	7094	c.5875A>G	c.(5875-5877)Atg>Gtg	p.M1959V	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1959					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.M1959V(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GATGCCCCCGATGACTCCCAT	0.577			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.M1959V			Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5875G	22						.						69.0	67.0	67.0					22																	41573590		2203	4300	6503	39903536	SO:0001583	missense	2033	exon31	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5875A>G	22.37:g.41573590A>G	ENSP00000263253:p.Met1959Val	Somatic		Capture	SOLID	Phase_I	39903536	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.820389	0.00595	.	.	ENSG00000100393	ENST00000263253	D	0.83163	-1.69	5.21	3.08	0.35506	.	0.126908	0.34223	N	0.004144	T	0.73976	0.3656	L	0.52364	1.645	0.27760	N	0.943866	B	0.02656	0.0	B	0.01281	0.0	T	0.57447	-0.7810	10	0.17369	T	0.5	-7.8044	7.7074	0.28659	0.7169:0.1449:0.0:0.1383	.	1959	Q09472	EP300_HUMAN	V	1959	ENSP00000263253:M1959V	ENSP00000263253:M1959V	M	+	1	0	EP300	39903536	0.998000	0.40836	0.191000	0.23289	0.033000	0.12548	1.744000	0.38268	0.305000	0.22832	-1.275000	0.01399	ATG		0.577	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
L3MBTL2	83746	hgsc.bcm.edu	37	22	41620994	41620994	+	Silent	SNP	C	C	T	rs146917495		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:41620994C>T	ENST00000216237.5	+	11	1433	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	425					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.G425G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACACAGAAGGCGGTTGGTTTG	0.597																																					p.G425G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1275T	22						.	C		0,4406		0,0,2203	167.0	154.0	158.0		1275	-11.0	0.1	22	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	L3MBTL2	NM_031488.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		425/706	41620994	1,13005	2203	4300	6503	39950940	SO:0001819	synonymous_variant	83746	exon11			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1275C>T	22.37:g.41620994C>T		Somatic		Capture	SOLID	Phase_I	39950940	NM_031488	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	37	CCDS14011.1																																																																																				0.597	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488	
TCF20	6942	hgsc.bcm.edu	37	22	42564705	42564705	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:42564705T>C	ENST00000359486.3	-	4	5973	c.5837A>G	c.(5836-5838)aAg>aGg	p.K1946R	TCF20_ENST00000404876.1_Missense_Mutation_p.K236R|TCF20_ENST00000335626.4_Intron	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1946					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.K1946R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTTCGCGGTCTTGTTCTGCAA	0.622											OREG0026603	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K1946R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5837G	22						.						38.0	35.0	36.0					22																	42564705		2203	4300	6503	40894649	SO:0001583	missense	6942	exon4			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5837A>G	22.37:g.42564705T>C	ENSP00000352463:p.Lys1946Arg	Somatic	909	Capture	SOLID	Phase_I	40894649	NM_005650	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.335289	0.60853	.	.	ENSG00000100207	ENST00000359486;ENST00000404876	T;T	0.69561	0.2;-0.41	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000009	T	0.72391	0.3454	N	0.25647	0.755	0.43480	D	0.995706	D	0.63880	0.993	D	0.70935	0.971	T	0.74456	-0.3659	10	0.51188	T	0.08	-21.5252	16.1383	0.81506	0.0:0.0:0.0:1.0	.	1946	Q9UGU0	TCF20_HUMAN	R	1946;236	ENSP00000352463:K1946R;ENSP00000385531:K236R	ENSP00000352463:K1946R	K	-	2	0	TCF20	40894649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.174000	0.65015	2.219000	0.72066	0.533000	0.62120	AAG		0.622	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
FBLN1	2192	hgsc.bcm.edu	37	22	45938072	45938072	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:45938072G>A	ENST00000327858.6	+	10	1199	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	FBLN1_ENST00000402984.3_Silent_p.G406G|FBLN1_ENST00000442170.2_Silent_p.G368G|FBLN1_ENST00000348697.2_Silent_p.G368G|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Silent_p.G368G|FBLN1_ENST00000340923.5_Silent_p.G368G	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	368	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGCCCTGTGGGAAGGGACATC	0.542																																					p.G368G												.	.	0			c.G1104A	22						.						113.0	116.0	115.0					22																	45938072		2203	4300	6503	44316736	SO:0001819	synonymous_variant	2192	exon10				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1104G>A	22.37:g.45938072G>A		Somatic		Capture	SOLID	Phase_I	44316736	NM_006487	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	CCDS14067.1																																																																																				0.542	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	
PKDREJ	10343	hgsc.bcm.edu	37	22	46656371	46656371	+	Missense_Mutation	SNP	G	G	A	rs200911981		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:46656371G>A	ENST00000253255.5	-	1	2848	c.2849C>T	c.(2848-2850)gCg>gTg	p.A950V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	950					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.A950V(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTACACTTCCGCTACATCAGG	0.468													g|||	1	0.000199681	0.0	0.0	5008	,	,		22108	0.001		0.0	False		,,,				2504	0.0				p.A950V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2849T	22						.						175.0	182.0	179.0					22																	46656371		2203	4300	6503	45035035	SO:0001583	missense	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2849C>T	22.37:g.46656371G>A	ENSP00000253255:p.Ala950Val	Somatic		Capture	SOLID	Phase_I	45035035	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	2.375	-0.343359	0.05243	.	.	ENSG00000130943	ENST00000253255	T	0.32272	1.46	5.33	-9.17	0.00691	.	1.081650	0.07136	N	0.846466	T	0.15652	0.0377	N	0.17723	0.515	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.50947	-0.8767	10	0.02654	T	1	-0.8597	17.43	0.87537	0.7916:0.0:0.2084:0.0	.	950	Q9NTG1	PKDRE_HUMAN	V	950	ENSP00000253255:A950V	ENSP00000253255:A950V	A	-	2	0	PKDREJ	45035035	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.139000	0.10358	-1.612000	0.01579	-2.063000	0.00397	GCG		0.468	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
ZBED4	9889	hgsc.bcm.edu	37	22	50278629	50278629	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:50278629T>G	ENST00000216268.5	+	2	1796	c.1319T>G	c.(1318-1320)tTg>tGg	p.L440W		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	440						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L440W(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGTCCTAGATTGTTTGAATCT	0.552																																					p.L440W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1319G	22						.						64.0	68.0	67.0					22																	50278629		2203	4300	6503	48664633	SO:0001583	missense	9889	exon2			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1319T>G	22.37:g.50278629T>G	ENSP00000216268:p.Leu440Trp	Somatic		Capture	SOLID	Phase_I	48664633	NM_014838	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	T	6.252	0.414537	0.11870	.	.	ENSG00000100426	ENST00000216268	T	0.50001	0.76	5.32	-3.21	0.05140	.	1.817510	0.03403	N	0.203630	T	0.31389	0.0795	N	0.22421	0.69	0.09310	N	1	P	0.44044	0.825	B	0.36289	0.221	T	0.41716	-0.9493	10	0.72032	D	0.01	-0.0759	8.5459	0.33421	0.0:0.4176:0.2834:0.299	.	440	O75132	ZBED4_HUMAN	W	440	ENSP00000216268:L440W	ENSP00000216268:L440W	L	+	2	0	ZBED4	48664633	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.208000	0.17415	-0.724000	0.04908	-0.290000	0.09829	TTG		0.552	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838	
NF2	4771	hgsc.bcm.edu	37	22	30070879	30070879	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:30070879G>A	ENST00000338641.4	+	13	1836	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E	NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Silent_p.E382E|NF2_ENST00000361452.4_Silent_p.E424E|NF2_ENST00000334961.7_Silent_p.E382E|NF2_ENST00000397789.3_Silent_p.E465E|NF2_ENST00000403435.1_Silent_p.E436E|NF2_ENST00000361676.4_Silent_p.E423E|NF2_ENST00000403999.3_Silent_p.E465E|NF2_ENST00000361166.4_Silent_p.E465E|NF2_ENST00000347330.5_Missense_Mutation_p.A193T	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	465	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(4)|p.Q459fs*25(1)|p.A464fs*24(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GCGAGGCGGAGCGAAGAGCCA	0.602			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																												p.E465E		yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	.	.	6	Unknown(4)|Complex - frameshift(1)|Deletion - Frameshift(1)	meninges(2)|large_intestine(1)|stomach(1)|soft_tissue(1)|central_nervous_system(1)	c.G1395A	22						.						37.0	33.0	34.0					22																	30070879		2187	4269	6456	28400879	SO:0001819	synonymous_variant	4771	exon13	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1395G>A	22.37:g.30070879G>A		Somatic		Capture	SOLID	Phase_I	28400879	NM_000268	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Silent	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318244	0.40996	.	.	ENSG00000186575	ENST00000347330	D	0.94092	-3.35	5.6	0.96	0.19631	.	.	.	.	.	D	0.88551	0.6467	.	.	.	0.24354	N	0.994908	.	.	.	.	.	.	T	0.78499	-0.2180	5	.	.	.	.	5.6276	0.17490	0.2842:0.131:0.5848:0.0	.	.	.	.	T	193	ENSP00000335160:A193T	.	A	+	1	0	NF2	28400879	1.000000	0.71417	0.999000	0.59377	0.387000	0.30353	1.035000	0.30216	0.324000	0.23333	-0.140000	0.14226	GCG		0.602	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	
ALG12	79087	hgsc.bcm.edu	37	22	50297900	50297900	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr22:50297900C>T	ENST00000330817.6	-	9	1438	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	389					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)	p.V389I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGCAGAAGGACGTCTAGGAAA	0.647																																					p.V389I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1165A	22						.						46.0	47.0	46.0					22																	50297900		2203	4300	6503	48683904	SO:0001583	missense	79087	exon9			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1165G>A	22.37:g.50297900C>T	ENSP00000333813:p.Val389Ile	Somatic		Capture	SOLID	Phase_I	48683904	NM_024105	A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	CCDS14081.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.101580|5.101580	0.94245|0.94245	.|.	.|.	ENSG00000182858|ENSG00000182858	ENST00000486602|ENST00000330817	.|T	.|0.60672	.|0.17	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68540|0.68540	0.3012|0.3012	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|P	.|0.62435	.|0.902	T|T	0.65327|0.65327	-0.6195|-0.6195	5|10	.|0.33940	.|T	.|0.23	-10.7486|-10.7486	18.9681|18.9681	0.92704|0.92704	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|389	.|Q9BV10	.|ALG12_HUMAN	H|I	124|389	.|ENSP00000333813:V389I	.|ENSP00000333813:V389I	R|V	-|-	2|1	0|0	ALG12|ALG12	48683904|48683904	1.000000|1.000000	0.71417|0.71417	0.019000|0.019000	0.16419|0.16419	0.005000|0.005000	0.04900|0.04900	5.719000|5.719000	0.68462|0.68462	2.488000|2.488000	0.83962|0.83962	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.647	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105	
DNMT1	1786	hgsc.bcm.edu	37	19	10251811	10251811	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:10251811G>A	ENST00000340748.4	-	30	3551	c.3316C>T	c.(3316-3318)Cct>Tct	p.P1106S	DNMT1_ENST00000359526.4_Missense_Mutation_p.P1122S|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1106S|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1106					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P1106S(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTGTTTCCAGGGCTACGGGCA	0.463																																					p.P1122S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3364T	19						.						183.0	170.0	174.0					19																	10251811		2203	4300	6503	10112811	SO:0001583	missense	1786	exon31			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3316C>T	19.37:g.10251811G>A	ENSP00000345739:p.Pro1106Ser	Somatic		Capture	SOLID	Phase_I	10112811	NM_001130823	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271479	0.23221	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.22134	1.97;1.97;1.97	5.6	2.12	0.27331	.	0.303141	0.35378	N	0.003242	T	0.07863	0.0197	N	0.13043	0.29	0.33034	D	0.530546	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.09377	0.004;0.004;0.002	T	0.20940	-1.0260	10	0.07482	T	0.82	.	2.6998	0.05145	0.1292:0.3042:0.4092:0.1575	.	1106;1122;1106	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	S	1122;1106;1106;974	ENSP00000352516:P1122S;ENSP00000440457:P1106S;ENSP00000345739:P1106S	ENSP00000345739:P1106S	P	-	1	0	DNMT1	10112811	1.000000	0.71417	0.918000	0.36340	0.980000	0.70556	1.104000	0.31074	1.355000	0.45865	0.655000	0.94253	CCT		0.463	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
MRPL4	51073	hgsc.bcm.edu	37	19	10365272	10365272	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:10365272A>T	ENST00000253099.6	+	4	570	c.283A>T	c.(283-285)Ata>Tta	p.I95L	CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000590669.1_Missense_Mutation_p.I95L|MRPL4_ENST00000588502.1_Missense_Mutation_p.I94L|MRPL4_ENST00000307422.5_Missense_Mutation_p.I95L|MRPL4_ENST00000393733.2_Missense_Mutation_p.I95L	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	95					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.I95L(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		CAGGCTGGACATACTGCACCA	0.542																																					p.I95L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A283T	19						.						223.0	207.0	212.0					19																	10365272		2203	4300	6503	10226272	SO:0001583	missense	51073	exon4			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.283A>T	19.37:g.10365272A>T	ENSP00000253099:p.Ile95Leu	Somatic		Capture	SOLID	Phase_I	10226272	NM_146388	A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Missense_Mutation	SNP	ENST00000253099.6	37	CCDS12230.1	.	.	.	.	.	.	.	.	.	.	A	9.831	1.188302	0.21954	.	.	ENSG00000105364	ENST00000253099;ENST00000307422;ENST00000393733	.	.	.	4.78	1.43	0.22495	Ribosomal protein L4 domain (1);	0.052393	0.85682	D	0.000000	T	0.39545	0.1082	L	0.31120	0.905	0.48830	D	0.999718	B;B	0.21606	0.01;0.058	B;B	0.26969	0.045;0.075	T	0.08764	-1.0706	9	0.39692	T	0.17	-9.7293	4.3897	0.11334	0.6838:0.0:0.17:0.1461	.	95;95	Q9BYD3-2;Q9BYD3	.;RM04_HUMAN	L	95	.	ENSP00000253099:I95L	I	+	1	0	MRPL4	10226272	0.655000	0.27376	0.133000	0.22050	0.224000	0.24922	1.208000	0.32345	-0.025000	0.13918	0.454000	0.30748	ATA		0.542	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1		
TYK2	7297	hgsc.bcm.edu	37	19	10461746	10461746	+	Silent	SNP	G	G	A	rs373618731		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:10461746G>A	ENST00000525621.1	-	24	3892	c.3411C>T	c.(3409-3411)ccC>ccT	p.P1137P	TYK2_ENST00000524462.1_Silent_p.P952P|TYK2_ENST00000264818.6_Silent_p.P1137P|TYK2_ENST00000529422.1_5'UTR	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1137	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GACATTTGTCGGGCCGTGGCA	0.542																																					p.P1137P												.	.	0			c.C3411T	19						.						68.0	65.0	66.0					19																	10461746		2203	4300	6503	10322746	SO:0001819	synonymous_variant	7297	exon24				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3411C>T	19.37:g.10461746G>A		Somatic		Capture	SOLID	Phase_I	10322746	NM_003331	Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	CCDS12236.1																																																																																				0.542	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1		
PDE4A	5141	hgsc.bcm.edu	37	19	10577875	10577875	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:10577875G>T	ENST00000352831.6	+	15	2349	c.2239G>T	c.(2239-2241)Gat>Tat	p.D747Y	PDE4A_ENST00000380702.2_Missense_Mutation_p.D725Y|PDE4A_ENST00000293683.5_Missense_Mutation_p.D721Y|PDE4A_ENST00000344979.3_Missense_Mutation_p.D508Y|PDE4A_ENST00000592685.1_Missense_Mutation_p.D725Y|PDE4A_ENST00000440014.2_Missense_Mutation_p.D686Y	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	747					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)	p.D508Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GGAAGCTCTGGATGCAACCAT	0.572																																					p.D686Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2056T	19						.						89.0	80.0	83.0					19																	10577875		2203	4300	6503	10438875	SO:0001583	missense	5141	exon15				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2239G>T	19.37:g.10577875G>T	ENSP00000270474:p.Asp747Tyr	Somatic		Capture	SOLID	Phase_I	10438875	NM_001111309	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	g	15.27	2.782585	0.49891	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	T;T;T;T;T	0.68479	-0.32;-0.31;-0.33;-0.31;-0.02	4.42	3.35	0.38373	.	.	.	.	.	T	0.49525	0.1562	N	0.08118	0	0.09310	N	1	D;P;P;P	0.54207	0.965;0.936;0.936;0.826	P;P;P;B	0.44990	0.466;0.466;0.466;0.276	T	0.43621	-0.9380	9	0.72032	D	0.01	.	10.9197	0.47156	0.1015:0.0:0.8985:0.0	.	508;686;721;747	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	Y	725;747;721;686;508	ENSP00000370078:D725Y;ENSP00000270474:D747Y;ENSP00000293683:D721Y;ENSP00000394754:D686Y;ENSP00000341007:D508Y	ENSP00000293683:D721Y	D	+	1	0	PDE4A	10438875	0.009000	0.17119	0.015000	0.15790	0.003000	0.03518	0.348000	0.20031	2.181000	0.69327	0.550000	0.68814	GAT		0.572	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1		
GCDH	2639	hgsc.bcm.edu	37	19	13010342	13010342	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:13010342C>T	ENST00000222214.5	+	12	1515	c.1304C>T	c.(1303-1305)aCg>aTg	p.T435M	GCDH_ENST00000422947.2_Missense_Mutation_p.T391M|SYCE2_ENST00000293695.7_Intron|GCDH_ENST00000457854.1_Intron|GCDH_ENST00000591470.1_Missense_Mutation_p.T435M			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	435					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)	p.T435M(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	CAGGCGTTCACGGCCAGCAAG	0.547																																					p.T435M	GBM(123;875 1636 7726 16444 26754)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1304T	19						.						62.0	58.0	60.0					19																	13010342		2203	4300	6503	12871342	SO:0001583	missense	2639	exon12			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1304C>T	19.37:g.13010342C>T	ENSP00000222214:p.Thr435Met	Somatic		Capture	SOLID	Phase_I	12871342	NM_000159	A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388835	0.25118	.	.	ENSG00000105607	ENST00000222214;ENST00000422947	D;D	0.97731	-4.51;-4.08	5.45	0.706	0.18133	Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.220273	0.45867	D	0.000339	D	0.95364	0.8495	L	0.50333	1.59	0.80722	D	1	P;P;P	0.50710	0.881;0.938;0.897	B;P;B	0.45276	0.18;0.475;0.184	D	0.92087	0.5677	10	0.87932	D	0	.	8.1092	0.30905	0.428:0.4979:0.0:0.0741	.	391;271;435	B4DK85;B4DUY0;Q92947	.;.;GCDH_HUMAN	M	435;391	ENSP00000222214:T435M;ENSP00000394821:T391M	ENSP00000222214:T435M	T	+	2	0	GCDH	12871342	0.471000	0.25862	0.046000	0.18839	0.014000	0.08584	1.141000	0.31528	0.040000	0.15660	-0.309000	0.09137	ACG		0.547	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1		
NDUFB7	4713	hgsc.bcm.edu	37	19	14677707	14677707	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:14677707G>A	ENST00000215565.2	-	2	212	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	51					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.L51L(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TGGAGCCTCAGCTGCGCGTCC	0.657																																					p.L51L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C151T	19						.						44.0	36.0	38.0					19																	14677707		2197	4295	6492	14538707	SO:0001819	synonymous_variant	4713	exon2				CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"""Mitochondrial respiratory chain complex / Complex I"""	7702	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase B18 subunit"", ""complex I B18 subunit"""	603842	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"""			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.151C>T	19.37:g.14677707G>A		Somatic		Capture	SOLID	Phase_I	14538707	NM_004146	Q6ICN9|Q9UI16	Silent	SNP	ENST00000215565.2	37	CCDS12314.1																																																																																				0.657	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466025.1	NM_004146	
OR7A5	26659	hgsc.bcm.edu	37	19	14938690	14938690	+	Missense_Mutation	SNP	G	G	A	rs150851599	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:14938690G>A	ENST00000322301.3	-	2	451	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	OR7A5_ENST00000594432.1_Missense_Mutation_p.R122W|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	122					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122W(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GCCACAAACCGGTCATAGGCC	0.483													.|||	2	0.000399361	0.0	0.0	5008	,	,		22134	0.002		0.0	False		,,,				2504	0.0				p.R122W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C364T	19						.						110.0	100.0	103.0					19																	14938690		2203	4300	6503	14799690	SO:0001583	missense	26659	exon1			X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.364C>T	19.37:g.14938690G>A	ENSP00000316955:p.Arg122Trp	Somatic		Capture	SOLID	Phase_I	14799690	NM_017506	B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	CCDS12318.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	g	7.377	0.627977	0.14257	.	.	ENSG00000188269	ENST00000322301	T	0.77620	-1.11	3.13	-2.0	0.07433	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31472	U	0.007595	T	0.72803	0.3506	H	0.97783	4.075	0.24938	N	0.99187	P	0.40398	0.716	B	0.33690	0.168	T	0.71984	-0.4427	10	0.87932	D	0	.	3.6042	0.08037	0.22:0.0:0.4447:0.3353	.	122	Q15622	OR7A5_HUMAN	W	122	ENSP00000316955:R122W	ENSP00000316955:R122W	R	-	1	2	OR7A5	14799690	0.012000	0.17670	0.041000	0.18516	0.029000	0.11900	-0.096000	0.11059	-0.119000	0.11830	0.134000	0.15878	CGG		0.483	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506	
NOTCH3	4854	hgsc.bcm.edu	37	19	15291013	15291013	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:15291013C>T	ENST00000263388.2	-	20	3272	c.3197G>A	c.(3196-3198)aGc>aAc	p.S1066N		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1066	EGF-like 27. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.S1066N(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTAGTGGGAGCTGTCTTCATC	0.637																																					p.S1066N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3197A	19						.						59.0	46.0	50.0					19																	15291013		2203	4300	6503	15152013	SO:0001583	missense	4854	exon20			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3197G>A	19.37:g.15291013C>T	ENSP00000263388:p.Ser1066Asn	Somatic		Capture	SOLID	Phase_I	15152013	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	4.442	0.081783	0.08533	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.84146	-1.81	4.84	-1.43	0.08884	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.992648	0.08160	N	0.988691	T	0.56441	0.1985	N	0.00996	-1.065	0.23716	N	0.997036	B;B	0.02656	0.0;0.0	B;B	0.09377	0.003;0.004	T	0.52660	-0.8546	10	0.02654	T	1	.	9.5172	0.39113	0.0:0.4621:0.0:0.5379	.	1017;1066	Q59FL3;Q9UM47	.;NOTC3_HUMAN	N	1066;1016	ENSP00000263388:S1066N	ENSP00000263388:S1066N	S	-	2	0	NOTCH3	15152013	0.206000	0.23470	0.950000	0.38849	0.988000	0.76386	0.070000	0.14573	0.036000	0.15547	0.655000	0.94253	AGC		0.637	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
CYP4F22	126410	hgsc.bcm.edu	37	19	15640611	15640611	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:15640611C>T	ENST00000269703.3	+	4	513	c.314C>T	c.(313-315)cCg>cTg	p.P105L	CYP4F22_ENST00000601005.2_Missense_Mutation_p.P105L	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	105						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.P105L(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CCTGTCCTGCCGCTGTTGGTT	0.537																																					p.P105L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C314T	19						.						192.0	140.0	158.0					19																	15640611		2203	4300	6503	15501611	SO:0001583	missense	126410	exon4				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.314C>T	19.37:g.15640611C>T	ENSP00000269703:p.Pro105Leu	Somatic		Capture	SOLID	Phase_I	15501611	NM_173483	Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126466	0.77549	.	.	ENSG00000171954	ENST00000269703	D	0.97455	-4.39	5.03	5.03	0.67393	.	0.177232	0.49305	D	0.000146	D	0.94368	0.8189	N	0.25957	0.775	0.54753	D	0.999984	P	0.38148	0.62	B	0.41723	0.365	D	0.94748	0.7925	10	0.62326	D	0.03	.	13.8427	0.63449	0.0:1.0:0.0:0.0	.	105	Q6NT55	CP4FN_HUMAN	L	105	ENSP00000269703:P105L	ENSP00000269703:P105L	P	+	2	0	CYP4F22	15501611	0.994000	0.37717	0.844000	0.33320	0.613000	0.37349	5.405000	0.66351	2.323000	0.78572	0.462000	0.41574	CCG		0.537	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483	
CYP4F12	66002	hgsc.bcm.edu	37	19	15806862	15806862	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:15806862G>A	ENST00000550308.1	+	10	1612	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	CYP4F12_ENST00000324632.10_Missense_Mutation_p.G411D	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	411					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.G411D(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CTCCCAGATGGCCGAGTCATC	0.602																																					p.G411D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1232A	19						.						86.0	86.0	86.0					19																	15806862		2202	4300	6502	15667862	SO:0001583	missense	66002	exon10			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1232G>A	19.37:g.15806862G>A	ENSP00000448998:p.Gly411Asp	Somatic		Capture	SOLID	Phase_I	15667862	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	18.89	3.718622	0.68844	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.85258	-1.96;-1.96	2.41	2.41	0.29592	.	0.474372	0.17684	U	0.165519	D	0.88912	0.6566	M	0.67569	2.06	0.39876	D	0.97357	B	0.31989	0.35	P	0.50934	0.654	D	0.89242	0.3584	10	0.54805	T	0.06	.	10.9311	0.47217	0.0:0.0:1.0:0.0	.	411	Q9HCS2	CP4FC_HUMAN	D	411	ENSP00000448998:G411D;ENSP00000321821:G411D	ENSP00000321821:G411D	G	+	2	0	CYP4F12	15667862	1.000000	0.71417	0.946000	0.38457	0.653000	0.38743	5.352000	0.66028	1.657000	0.50732	0.313000	0.20887	GGC		0.602	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9		
USHBP1	83878	hgsc.bcm.edu	37	19	17369048	17369048	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:17369048G>A	ENST00000252597.3	-	8	1366	c.1193C>T	c.(1192-1194)gCa>gTa	p.A398V	USHBP1_ENST00000431146.2_Missense_Mutation_p.A334V|AC010646.3_ENST00000594059.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.A398V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTGTGCTCCTGCATCCATGGC	0.617																																					p.A398V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1193T	19						.						87.0	73.0	78.0					19																	17369048		2203	4300	6503	17230048	SO:0001583	missense	83878	exon8			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1193C>T	19.37:g.17369048G>A	ENSP00000252597:p.Ala398Val	Somatic		Capture	SOLID	Phase_I	17230048	NM_031941		Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	g	8.559	0.877237	0.17395	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.18016	2.25;2.24	4.11	-1.08	0.09936	.	0.838118	0.10613	N	0.654247	T	0.08670	0.0215	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.35475	-0.9787	10	0.30854	T	0.27	-1.2904	2.2851	0.04124	0.3246:0.4075:0.1641:0.1037	.	334;398	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	V	398;334	ENSP00000252597:A398V;ENSP00000407902:A334V	ENSP00000252597:A398V	A	-	2	0	USHBP1	17230048	0.002000	0.14202	0.000000	0.03702	0.012000	0.07955	0.629000	0.24538	-0.168000	0.10853	-1.173000	0.01734	GCA		0.617	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941	
KIAA1683	80726	hgsc.bcm.edu	37	19	18376953	18376953	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:18376953T>C	ENST00000600328.3	-	3	1590	c.1397A>G	c.(1396-1398)aAc>aGc	p.N466S	KIAA1683_ENST00000600359.3_Missense_Mutation_p.N420S|KIAA1683_ENST00000392413.4_Missense_Mutation_p.N466S			Q9H0B3	K1683_HUMAN	KIAA1683	466						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.N466S(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTGCAATGGGTTTTTGGCTGG	0.612																																					p.N466S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1397G	19						.						73.0	78.0	77.0					19																	18376953		2203	4300	6503	18237953	SO:0001583	missense	80726	exon3			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1397A>G	19.37:g.18376953T>C	ENSP00000470780:p.Asn466Ser	Somatic		Capture	SOLID	Phase_I	18237953	NM_025249	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	T	0.117	-1.130614	0.01756	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634	T;T;T	0.03065	4.11;4.14;4.06	4.26	-2.86	0.05717	.	0.584329	0.14226	N	0.333060	T	0.01222	0.0040	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46470	-0.9189	10	0.10377	T	0.69	-2.3761	1.9834	0.03431	0.1999:0.3831:0.281:0.1361	.	466;466	E9PDE0;Q9H0B3	.;K1683_HUMAN	S	466;466;420	ENSP00000376213:N466S;ENSP00000352774:N466S;ENSP00000404501:N420S	ENSP00000352774:N466S	N	-	2	0	KIAA1683	18237953	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.815000	0.04481	-0.239000	0.09710	-1.583000	0.00853	AAC		0.612	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3		
FKBP8	23770	hgsc.bcm.edu	37	19	18650472	18650472	+	Silent	SNP	C	C	T	rs368924907		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:18650472C>T	ENST00000596558.2	-	3	460	c.351G>A	c.(349-351)ccG>ccA	p.P117P	FKBP8_ENST00000453489.2_Silent_p.P146P|FKBP8_ENST00000597960.3_Silent_p.P117P|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000608443.1_Silent_p.P117P|FKBP8_ENST00000222308.4_Silent_p.P117P			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	117					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.P117P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GGCCCTTGACCGGGCGGCTCG	0.652																																					p.P117P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G351A	19						.	C		1,4405		0,1,2202	138.0	145.0	142.0		351	-7.0	0.0	19		142	0,8600		0,0,4300	no	coding-synonymous	FKBP8	NM_012181.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		117/414	18650472	1,13005	2203	4300	6503	18511472	SO:0001819	synonymous_variant	23770	exon3			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.351G>A	19.37:g.18650472C>T		Somatic		Capture	SOLID	Phase_I	18511472	NM_012181	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	37																																																																																					0.652	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181	
TMPRSS9	360200	hgsc.bcm.edu	37	19	2389785	2389785	+	Start_Codon_SNP	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:2389785T>C	ENST00000332578.3	+	1	2	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	1					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.M1T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGAGCCATGGAGCCCACT	0.607																																					p.M1T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2C	19						.						57.0	41.0	46.0					19																	2389785		2203	4300	6503	2340785	SO:0001582	initiator_codon_variant	360200	exon1			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2T>C	19.37:g.2389785T>C	ENSP00000330264:p.Met1Thr	Somatic		Capture	SOLID	Phase_I	2340785	NM_182973	Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.800294	0.31869	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.88741	-2.42	4.39	4.39	0.52855	.	0.000000	0.56097	D	0.000036	D	0.92993	0.7770	.	.	.	0.80722	D	1	D;D	0.60160	0.987;0.987	D;D	0.66196	0.942;0.942	D	0.93360	0.6726	9	0.87932	D	0	.	10.3452	0.43901	0.0:0.0:0.0:1.0	.	1;1	Q7Z410;E7EMP4	TMPS9_HUMAN;.	T	1	ENSP00000330264:M1T	ENSP00000330264:M1T	M	+	2	0	TMPRSS9	2340785	1.000000	0.71417	0.994000	0.49952	0.027000	0.11550	2.111000	0.41883	1.751000	0.51876	0.449000	0.29647	ATG		0.607	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973	Missense_Mutation
TLE6	79816	hgsc.bcm.edu	37	19	2994023	2994023	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:2994023G>A	ENST00000246112.4	+	16	1745	c.1544G>A	c.(1543-1545)tGg>tAg	p.W515*	TLE6_ENST00000452088.1_Nonsense_Mutation_p.W392*	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	515					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.W392*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		CCAGGCCAGTGGTGGGCAAGC	0.542																																					p.W515X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1544A	19						.						76.0	55.0	62.0					19																	2994023		2203	4299	6502	2945023	SO:0001587	stop_gained	79816	exon16			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.1544G>A	19.37:g.2994023G>A	ENSP00000246112:p.Trp515*	Somatic		Capture	SOLID	Phase_I	2945023	NM_001143986	J3KMZ1	Nonsense_Mutation	SNP	ENST00000246112.4	37	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443278	0.96187	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088	.	.	.	2.76	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2452	9.2201	0.37370	0.0:0.0:1.0:0.0	.	.	.	.	X	515;515;392	.	ENSP00000246112:W515X	W	+	2	0	TLE6	2945023	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.602000	0.54066	1.872000	0.54250	0.561000	0.74099	TGG		0.542	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760	
GMIP	51291	hgsc.bcm.edu	37	19	19749242	19749242	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:19749242T>C	ENST00000203556.4	-	8	724	c.587A>G	c.(586-588)aAg>aGg	p.K196R	GMIP_ENST00000445806.2_Missense_Mutation_p.K196R|GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Missense_Mutation_p.K196R	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	196					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)	p.K196R(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCACTGCTCCTTGAACTCCTT	0.602																																					p.K196R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A587G	19						.						157.0	111.0	127.0					19																	19749242		2203	4300	6503	19610242	SO:0001583	missense	51291	exon8			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.587A>G	19.37:g.19749242T>C	ENSP00000203556:p.Lys196Arg	Somatic		Capture	SOLID	Phase_I	19610242	NM_016573	A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.467015	0.63625	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.46451	0.87;0.87	4.18	4.18	0.49190	.	0.000000	0.45606	D	0.000343	T	0.35711	0.0941	M	0.70275	2.135	0.45962	D	0.998786	P;P;P	0.44281	0.831;0.831;0.831	B;B;B	0.35688	0.208;0.208;0.208	T	0.36939	-0.9727	10	0.59425	D	0.04	-34.4022	6.1919	0.20528	0.0:0.1118:0.0:0.8882	.	196;196;196	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	R	196	ENSP00000203556:K196R;ENSP00000397075:K196R	ENSP00000203556:K196R	K	-	2	0	GMIP	19610242	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.422000	0.80217	1.751000	0.51876	0.402000	0.26972	AAG		0.602	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573	
CCNE1	898	hgsc.bcm.edu	37	19	30314680	30314680	+	Missense_Mutation	SNP	C	C	T	rs141578348		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:30314680C>T	ENST00000262643.3	+	12	1508	c.1229C>T	c.(1228-1230)gCg>gTg	p.A410V	CCNE1_ENST00000444983.2_Missense_Mutation_p.A395V|CCNE1_ENST00000357943.5_Missense_Mutation_p.A367V	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	410					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)	p.A410V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CCGGAAATGGCGTGACCACCC	0.567			A		serous ovarian																																p.A395V			Dom	yes		19	19q12	898	cyclin E1		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1184T	19						.	C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	79.0	77.0	77.0		1229	-11.1	0.0	19	dbSNP_134	77	0,8600		0,0,4300	no	missense	CCNE1	NM_001238.2	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	410/411	30314680	2,13004	2203	4300	6503	35006520	SO:0001583	missense	898	exon10			M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.1229C>T	19.37:g.30314680C>T	ENSP00000262643:p.Ala410Val	Somatic		Capture	SOLID	Phase_I	35006520	NM_057182	A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118573	0.56505	4.54E-4	0.0	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.43688	1.93;0.94;1.93	5.98	-11.1	0.00147	.	1.452940	0.03899	N	0.280031	T	0.15435	0.0372	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.41161	-0.9524	10	0.87932	D	0	.	9.3725	0.38264	0.2212:0.1114:0.0:0.6674	.	410	P24864	CCNE1_HUMAN	V	410;367;395	ENSP00000262643:A410V;ENSP00000350625:A367V;ENSP00000410179:A395V	ENSP00000262643:A410V	A	+	2	0	CCNE1	35006520	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.008000	0.12788	-1.905000	0.01090	-0.142000	0.14014	GCG		0.567	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238	
ZNF507	22847	hgsc.bcm.edu	37	19	32844973	32844973	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:32844973C>T	ENST00000311921.4	+	2	1429	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C	ZNF507_ENST00000355898.5_Missense_Mutation_p.R413C|ZNF507_ENST00000544431.1_Missense_Mutation_p.R413C	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R413C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTCACAGAAGCGCTTCCTCAT	0.468																																					p.R413C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1237T	19						.						76.0	72.0	73.0					19																	32844973		2203	4300	6503	37536813	SO:0001583	missense	22847	exon3			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1237C>T	19.37:g.32844973C>T	ENSP00000312277:p.Arg413Cys	Somatic		Capture	SOLID	Phase_I	37536813	NM_001136156	A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085435	0.36758	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.06142	3.66;3.66;3.34	5.73	5.73	0.89815	.	0.400270	0.33110	N	0.005262	T	0.05777	0.0151	N	0.08118	0	0.36183	D	0.849559	P;D	0.53151	0.767;0.958	B;P	0.46758	0.183;0.526	T	0.51434	-0.8706	10	0.36615	T	0.2	.	15.3911	0.74744	0.0:0.8614:0.1386:0.0	.	413;413	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	C	413	ENSP00000348162:R413C;ENSP00000312277:R413C;ENSP00000441549:R413C	ENSP00000312277:R413C	R	+	1	0	ZNF507	37536813	0.163000	0.22920	0.905000	0.35620	0.905000	0.53344	2.377000	0.44300	2.687000	0.91594	0.655000	0.94253	CGC		0.468	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910	
DPY19L3	147991	hgsc.bcm.edu	37	19	32927473	32927473	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:32927473G>A	ENST00000342179.5	+	5	665	c.450G>A	c.(448-450)caG>caA	p.Q150Q	DPY19L3_ENST00000392250.2_Splice_Site_p.Q150Q|DPY19L3_ENST00000586987.1_Splice_Site_p.Q150Q	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	150						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.Q150Q(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TACCCATACAGGTATGTTTTG	0.308																																					p.Q150Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G450A	19						.						64.0	76.0	72.0					19																	32927473		2198	4266	6464	37619313	SO:0001630	splice_region_variant	147991	exon5				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.450+1G>A	19.37:g.32927473G>A		Somatic		Capture	SOLID	Phase_I	37619313	NM_001172774	Q68DC7|Q6ZTB7|Q6ZTS2	Silent	SNP	ENST00000342179.5	37	CCDS12422.1																																																																																				0.308	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325	Silent
C19orf40	91442	hgsc.bcm.edu	37	19	33464154	33464154	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:33464154C>T	ENST00000588258.1	+	2	162	c.52C>T	c.(52-54)Cat>Tat	p.H18Y	C19orf40_ENST00000590281.1_Missense_Mutation_p.H18Y|CEP89_ENST00000305768.5_5'Flank|CEP89_ENST00000590597.2_5'Flank|C19orf40_ENST00000589646.1_Intron|C19orf40_ENST00000590179.1_Intron|CEP89_ENST00000591863.1_5'Flank	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	18					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.H18Y(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					GCCTTTGGGGCATATTGTGGC	0.597								Direct reversal of damage																													p.H18Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C52T	19						.						72.0	72.0	72.0					19																	33464154		2203	4300	6503	38155994	SO:0001583	missense	91442	exon2			AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.52C>T	19.37:g.33464154C>T	ENSP00000466121:p.His18Tyr	Somatic		Capture	SOLID	Phase_I	38155994	NM_152266	B3KY46|Q8WUJ7|Q96FX6	Missense_Mutation	SNP	ENST00000588258.1	37	CCDS12426.1	.	.	.	.	.	.	.	.	.	.	C	8.749	0.920772	0.17982	.	.	ENSG00000131944	ENST00000254262	.	.	.	5.57	-0.756	0.11057	.	0.131264	0.64402	N	0.000001	T	0.41488	0.1161	M	0.72894	2.215	0.23903	N	0.99652	B	0.02656	0.0	B	0.01281	0.0	T	0.36578	-0.9742	9	0.31617	T	0.26	-6.5338	10.0578	0.42255	0.0:0.64:0.0:0.36	.	18	Q9BTP7	FAP24_HUMAN	Y	18	.	ENSP00000254262:H18Y	H	+	1	0	C19orf40	38155994	0.963000	0.33076	0.019000	0.16419	0.077000	0.17291	1.693000	0.37742	-0.155000	0.11098	-0.237000	0.12165	CAT		0.597	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266	
GPATCH1	55094	hgsc.bcm.edu	37	19	33617619	33617619	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:33617619G>A	ENST00000170564.2	+	19	3059	c.2745G>A	c.(2743-2745)tcG>tcA	p.S915S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	915					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.S915S(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CAGACGTGTCGCCCCAGGAGC	0.493											OREG0025410	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S915S	Pancreas(67;88 1713 4567 18227)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2745A	19						.						75.0	75.0	75.0					19																	33617619		2203	4300	6503	38309459	SO:0001819	synonymous_variant	55094	exon19			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2745G>A	19.37:g.33617619G>A		Somatic	841	Capture	SOLID	Phase_I	38309459	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	CCDS12428.1																																																																																				0.493	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
PDCD2L	84306	hgsc.bcm.edu	37	19	34916905	34916905	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:34916905G>A	ENST00000246535.3	+	7	1004	c.957G>A	c.(955-957)gtG>gtA	p.V319V	CTD-2588C8.8_ENST00000592220.1_RNA|PDCD2L_ENST00000587065.2_Silent_p.V17V|UBA2_ENST00000439527.2_5'Flank|UBA2_ENST00000246548.4_5'Flank	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	319					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.V319V(1)		breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GTCTTTCTGTGGAATTTGGAA	0.368																																					p.V319V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G957A	19						.						91.0	93.0	92.0					19																	34916905		2203	4300	6503	39608745	SO:0001819	synonymous_variant	84306	exon7			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.957G>A	19.37:g.34916905G>A		Somatic		Capture	SOLID	Phase_I	39608745	NM_032346		Silent	SNP	ENST00000246535.3	37	CCDS12438.1																																																																																				0.368	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346	
HPN	3249	hgsc.bcm.edu	37	19	35556885	35556885	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:35556885C>T	ENST00000262626.2	+	12	1989	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Silent_p.G388G|HPN_ENST00000597419.1_Silent_p.G230G	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	388	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.G388G(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	AGAAGCCAGGCGTCTACACCA	0.592																																					p.G388G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1164T	19						.						119.0	126.0	124.0					19																	35556885		2203	4300	6503	40248725	SO:0001819	synonymous_variant	3249	exon13				CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.1164C>T	19.37:g.35556885C>T		Somatic		Capture	SOLID	Phase_I	40248725	NM_002151	B2RDS4	Silent	SNP	ENST00000262626.2	37	CCDS32993.1																																																																																				0.592	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151	
CD22	933	hgsc.bcm.edu	37	19	35836616	35836616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:35836616C>T	ENST00000085219.5	+	12	2386	c.2320C>T	c.(2320-2322)Cga>Tga	p.R774*	CD22_ENST00000270311.6_Intron|CD22_ENST00000594250.1_Nonsense_Mutation_p.R597*|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000536635.2_Nonsense_Mutation_p.R686*|CD22_ENST00000341773.6_Nonsense_Mutation_p.R597*|CD22_ENST00000544992.2_Intron|CD22_ENST00000419549.2_Nonsense_Mutation_p.R602*	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	774					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.R774*(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAACATACCACGAACTGGGTA	0.602																																					p.R597X	Ovarian(42;1009 1133 23674 26041)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1789T	19						.						128.0	115.0	119.0					19																	35836616		2203	4300	6503	40528456	SO:0001587	stop_gained	933	exon10			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2320C>T	19.37:g.35836616C>T	ENSP00000085219:p.Arg774*	Somatic		Capture	SOLID	Phase_I	40528456	NM_001185101	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Nonsense_Mutation	SNP	ENST00000085219.5	37	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762337	0.89932	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000419549	.	.	.	4.44	-5.29	0.02747	.	1.630950	0.03515	N	0.220150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	6.7562	0.23516	0.2466:0.2947:0.4587:0.0	.	.	.	.	X	774;686;597;602	.	ENSP00000085219:R774X	R	+	1	2	CD22	40528456	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.224000	0.09164	-0.789000	0.04498	-0.502000	0.04539	CGA		0.602	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
ATP4A	495	hgsc.bcm.edu	37	19	36054148	36054148	+	Missense_Mutation	SNP	G	G	A	rs200588214		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:36054148G>A	ENST00000262623.3	-	3	207	c.179C>T	c.(178-180)gCg>gTg	p.A60V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	60					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.A60V(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TTCCAGCTCCGCCACTGACAG	0.642													G|||	0	0.0	0.0	0.0	5008	,	,		13407	0.0		0.0	False		,,,				2504	0.0				p.A60V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C179T	19						.	G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	174.0	169.0	171.0		179	3.6	0.4	19		171	0,8600		0,0,4300	yes	missense	ATP4A	NM_000704.2	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	60/1036	36054148	2,13004	2203	4300	6503	40745988	SO:0001583	missense	495	exon3				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.179C>T	19.37:g.36054148G>A	ENSP00000262623:p.Ala60Val	Somatic		Capture	SOLID	Phase_I	40745988	NM_000704	O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139695	0.56936	4.54E-4	0.0	ENSG00000105675	ENST00000262623	T	0.79141	-1.24	4.65	3.58	0.41010	ATPase, P-type cation-transporter, N-terminal (2);	0.701143	0.11531	N	0.554730	T	0.67832	0.2935	L	0.38175	1.15	0.23602	N	0.997311	B	0.15719	0.014	B	0.08055	0.003	T	0.60214	-0.7307	10	0.87932	D	0	.	8.4329	0.32769	0.0:0.0:0.7011:0.2988	.	60	P20648	ATP4A_HUMAN	V	60	ENSP00000262623:A60V	ENSP00000262623:A60V	A	-	2	0	ATP4A	40745988	0.160000	0.22878	0.356000	0.25785	0.966000	0.64601	0.973000	0.29422	2.152000	0.67230	0.644000	0.83932	GCG		0.642	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	
ZBTB32	27033	hgsc.bcm.edu	37	19	36207554	36207554	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:36207554T>C	ENST00000392197.2	+	7	1682	c.1364T>C	c.(1363-1365)cTc>cCc	p.L455P	KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_5'Flank|ZBTB32_ENST00000262630.3_Missense_Mutation_p.L455P|KMT2B_ENST00000341701.1_5'Flank			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	455					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCAGCCAACTCCCGCCCGGA	0.687											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L455P												.	.	0			c.T1364C	19						.						87.0	76.0	80.0					19																	36207554		2203	4300	6503	40899394	SO:0001583	missense	27033	exon6			AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.1364T>C	19.37:g.36207554T>C	ENSP00000376035:p.Leu455Pro	Somatic	861	Capture	SOLID	Phase_I	40899394	NM_014383	Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.780604	0.90195	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.10763	2.84;2.84	4.75	4.75	0.60458	Zinc finger, C2H2 (1);	0.179846	0.27280	N	0.020088	T	0.15003	0.0362	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.04216	-1.0968	10	0.02654	T	1	-16.4956	12.2498	0.54591	0.0:0.0:0.0:1.0	.	455	Q9Y2Y4	ZBT32_HUMAN	P	455	ENSP00000262630:L455P;ENSP00000376035:L455P	ENSP00000262630:L455P	L	+	2	0	ZBTB32	40899394	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.049000	0.71053	1.989000	0.58080	0.379000	0.24179	CTC		0.687	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383	
THAP8	199745	hgsc.bcm.edu	37	19	36530557	36530557	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:36530557T>C	ENST00000292894.1	-	3	884	c.340A>G	c.(340-342)Aca>Gca	p.T114A	THAP8_ENST00000538849.1_De_novo_Start_OutOfFrame|AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000524106.1_5'Flank	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	114							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T114A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCAGGGGTGTATTCTTCTGT	0.662																																					p.T114A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A340G	19						.						26.0	28.0	28.0					19																	36530557		2027	3960	5987	41222397	SO:0001583	missense	199745	exon3			AK057453	CCDS33000.1	19q13.13	2013-01-25			ENSG00000161277	ENSG00000161277		"""THAP (C2CH-type zinc finger) domain containing"""	23191	protein-coding gene	gene with protein product		612536				12575992	Standard	NM_152658		Approved	FLJ32891	uc002oda.1	Q8NA92	OTTHUMG00000048138	ENST00000292894.1:c.340A>G	19.37:g.36530557T>C	ENSP00000292894:p.Thr114Ala	Somatic		Capture	SOLID	Phase_I	41222397	NM_152658	Q0P5Z7|Q96M21	Missense_Mutation	SNP	ENST00000292894.1	37	CCDS33000.1	.	.	.	.	.	.	.	.	.	.	t	6.896	0.534886	0.13188	.	.	ENSG00000161277	ENST00000292894;ENST00000392182	D	0.86769	-2.17	3.87	-7.74	0.01241	.	5.295310	0.00735	N	0.000963	T	0.69133	0.3077	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.66783	-0.5836	10	0.07990	T	0.79	-21.4188	0.1146	0.00059	0.2854:0.2505:0.2104:0.2537	.	114	Q8NA92	THAP8_HUMAN	A	114	ENSP00000292894:T114A	ENSP00000292894:T114A	T	-	1	0	THAP8	41222397	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-2.390000	0.00586	0.451000	0.29950	ACA		0.662	THAP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379036.1	NM_152658	
STAP2	55620	hgsc.bcm.edu	37	19	4325421	4325421	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:4325421G>A	ENST00000594605.1	-	10	1074	c.951C>T	c.(949-951)ggC>ggT	p.G317G	STAP2_ENST00000600324.1_Silent_p.G317G|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	317	Pro-rich.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.G317G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACAGCTGGGCCATCTCCAA	0.582																																					p.G317G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C951T	19						.						104.0	102.0	103.0					19																	4325421		2203	4300	6503	4276421	SO:0001819	synonymous_variant	55620	exon10			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.951C>T	19.37:g.4325421G>A		Somatic		Capture	SOLID	Phase_I	4276421	NM_001013841	A6NKK3|Q9NXI2	Silent	SNP	ENST00000594605.1	37	CCDS45926.1																																																																																				0.582	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841	
WDR62	284403	hgsc.bcm.edu	37	19	36591650	36591650	+	Splice_Site	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:36591650T>G	ENST00000270301.7	+	23	2740	c.2740T>G	c.(2740-2742)Tca>Gca	p.S914A	WDR62_ENST00000401500.2_Splice_Site_p.S914A			O43379	WDR62_HUMAN	WD repeat domain 62	914					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.S914A(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTCCCCATAGTCAGAGAGTCC	0.627																																					p.S914A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2740G	19						.						69.0	73.0	72.0					19																	36591650		2203	4300	6503	41283490	SO:0001630	splice_region_variant	284403	exon23			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2740-1T>G	19.37:g.36591650T>G		Somatic		Capture	SOLID	Phase_I	41283490	NM_001083961	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	T	7.784	0.710143	0.15239	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.27720	1.65;1.65	4.65	1.4	0.22301	.	1.399710	0.04668	N	0.410089	T	0.25044	0.0608	L	0.44542	1.39	0.23649	N	0.997203	B;B	0.28233	0.204;0.129	B;B	0.26770	0.073;0.033	T	0.21245	-1.0251	9	.	.	.	-0.367	3.9514	0.09371	0.0:0.1892:0.1819:0.6289	.	914;914	O43379-4;O43379	.;WDR62_HUMAN	A	914	ENSP00000384792:S914A;ENSP00000270301:S914A	.	S	+	1	0	WDR62	41283490	0.483000	0.25956	0.082000	0.20525	0.124000	0.20399	0.290000	0.18975	0.160000	0.19432	0.459000	0.35465	TCA		0.627	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671	Missense_Mutation
SIPA1L3	23094	hgsc.bcm.edu	37	19	38655329	38655329	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:38655329C>T	ENST00000222345.6	+	15	4500	c.3991C>T	c.(3991-3993)Ccc>Tcc	p.P1331S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1331					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.P1331S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCTCCACGGCCCGCCAAGCC	0.677																																					p.P1331S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3991T	19						.						37.0	32.0	34.0					19																	38655329		2203	4299	6502	43347169	SO:0001583	missense	23094	exon15			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3991C>T	19.37:g.38655329C>T	ENSP00000222345:p.Pro1331Ser	Somatic		Capture	SOLID	Phase_I	43347169	NM_015073	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994870	0.35226	.	.	ENSG00000105738	ENST00000222345	T	0.39406	1.08	4.53	2.34	0.29019	.	0.447731	0.22860	N	0.054750	T	0.26738	0.0654	L	0.46157	1.445	0.37149	D	0.902051	B	0.02656	0.0	B	0.04013	0.001	T	0.15009	-1.0452	10	0.07030	T	0.85	-11.5941	4.5006	0.11862	0.1576:0.6012:0.153:0.0882	.	1331	O60292	SI1L3_HUMAN	S	1331	ENSP00000222345:P1331S	ENSP00000222345:P1331S	P	+	1	0	SIPA1L3	43347169	0.501000	0.26099	0.184000	0.23157	0.941000	0.58515	0.386000	0.20702	0.329000	0.23460	0.650000	0.86243	CCC		0.677	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
RYR1	6261	hgsc.bcm.edu	37	19	38942456	38942456	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:38942456G>A	ENST00000359596.3	+	12	1175	c.1175G>A	c.(1174-1176)tGc>tAc	p.C392Y	RYR1_ENST00000360985.3_Missense_Mutation_p.C392Y|RYR1_ENST00000355481.4_Missense_Mutation_p.C392Y			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	392	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.C392Y(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGACCCGCTGCCAGCAGGAG	0.647																																					p.C392Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1175A	19						.						102.0	74.0	84.0					19																	38942456		2203	4300	6503	43634296	SO:0001583	missense	6261	exon12			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1175G>A	19.37:g.38942456G>A	ENSP00000352608:p.Cys392Tyr	Somatic		Capture	SOLID	Phase_I	43634296	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049765	0.36181	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91996	-2.95;-2.95;-2.95	4.07	4.07	0.47477	MIR motif (1);MIR (1);	0.081689	0.49916	U	0.000135	D	0.92061	0.7484	L	0.34521	1.04	0.37578	D	0.919716	D;D	0.69078	0.994;0.997	P;D	0.64042	0.805;0.921	D	0.93296	0.6672	10	0.66056	D	0.02	.	11.2569	0.49058	0.0:0.1862:0.8138:0.0	.	392;392	P21817-2;P21817	.;RYR1_HUMAN	Y	392	ENSP00000352608:C392Y;ENSP00000347667:C392Y;ENSP00000354254:C392Y	ENSP00000347667:C392Y	C	+	2	0	RYR1	43634296	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.887000	0.48586	2.107000	0.64212	0.609000	0.83330	TGC		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
ZNF780A	284323	hgsc.bcm.edu	37	19	40580460	40580460	+	Missense_Mutation	SNP	C	C	T	rs199635390		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:40580460C>T	ENST00000595687.2	-	6	2098	c.1889G>A	c.(1888-1890)cGc>cAc	p.R630H	ZNF780A_ENST00000455521.1_Missense_Mutation_p.R631H|ZNF780A_ENST00000450241.2_Missense_Mutation_p.R596H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R630H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R631H|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	630					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R596H(2)|p.R631H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTTCTTATGGCGATTAAGCTG	0.398																																					p.R630H												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.G1889A	19						.						140.0	135.0	136.0					19																	40580460		2203	4300	6503	45272300	SO:0001583	missense	284323	exon6			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1889G>A	19.37:g.40580460C>T	ENSP00000472189:p.Arg630His	Somatic		Capture	SOLID	Phase_I	45272300	NM_001142578	E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	c	7.158	0.585139	0.13749	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.30981	1.51;1.51	1.62	-2.94	0.05581	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20901	0.0503	L	0.52573	1.65	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.28522	-1.0041	9	0.31617	T	0.26	.	2.8239	0.05480	0.21:0.3089:0.0:0.4811	.	631;630	E9PB48;O75290	.;Z780A_HUMAN	H	630;631;630	ENSP00000400997:R631H;ENSP00000341507:R630H	ENSP00000341507:R630H	R	-	2	0	ZNF780A	45272300	0.000000	0.05858	0.002000	0.10522	0.156000	0.22039	-4.389000	0.00242	-0.592000	0.05851	-0.657000	0.03884	CGC		0.398	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880	
HNRNPUL1	11100	hgsc.bcm.edu	37	19	41778080	41778080	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:41778080G>A	ENST00000392006.3	+	3	685	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R71Q|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R82Q|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R71Q|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R71Q|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R128Q|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R171Q|HNRNPUL1_ENST00000594207.1_3'UTR	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	171					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R171Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTCCAGAGTCGAAAGAGGCCT	0.532																																					p.R71Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G212A	19						.						129.0	144.0	139.0					19																	41778080		2203	4300	6503	46469920	SO:0001583	missense	11100	exon3			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.512G>A	19.37:g.41778080G>A	ENSP00000375863:p.Arg171Gln	Somatic		Capture	SOLID	Phase_I	46469920	NM_144732	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352546	0.82132	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;D;T;D	0.91686	0.63;-2.88;1.3;-2.89	6.08	5.05	0.67936	.	0.048030	0.85682	D	0.000000	D	0.93262	0.7853	L	0.39898	1.24	0.38013	D	0.934596	D;D;D;D;D;D	0.76494	0.999;0.997;0.999;0.966;0.994;0.999	P;P;P;P;P;D	0.65573	0.808;0.895;0.906;0.569;0.719;0.936	D	0.94026	0.7297	10	0.44086	T	0.13	-12.0866	14.4513	0.67386	0.0715:0.0:0.9285:0.0	.	82;71;171;128;171;71	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	Q	71;171;128;82	ENSP00000340857:R71Q;ENSP00000375863:R171Q;ENSP00000367460:R128Q;ENSP00000263367:R82Q	ENSP00000263367:R82Q	R	+	2	0	HNRNPUL1	46469920	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.045000	0.89436	1.589000	0.49982	0.591000	0.81541	CGA		0.532	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040	
EXOSC5	56915	hgsc.bcm.edu	37	19	41898879	41898879	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:41898879G>A	ENST00000221233.4	-	2	305	c.155C>T	c.(154-156)aCc>aTc	p.T52I	BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	52					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CAGGACAGAGGTGTCACCTGA	0.622																																					p.T52I												.	.	0			c.C155T	19						.						62.0	49.0	54.0					19																	41898879		2203	4300	6503	46590719	SO:0001583	missense	56915	exon2			AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.155C>T	19.37:g.41898879G>A	ENSP00000221233:p.Thr52Ile	Somatic		Capture	SOLID	Phase_I	46590719	NM_020158	Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545257	0.86022	.	.	ENSG00000077348	ENST00000221233	T	0.63417	-0.04	5.56	5.56	0.83823	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.85873	0.5798	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89821	0.3989	10	0.87932	D	0	-37.5109	18.2944	0.90140	0.0:0.0:1.0:0.0	.	52	Q9NQT4	EXOS5_HUMAN	I	52	ENSP00000221233:T52I	ENSP00000221233:T52I	T	-	2	0	EXOSC5	46590719	1.000000	0.71417	0.982000	0.44146	0.828000	0.46876	7.202000	0.77856	2.615000	0.88500	0.555000	0.69702	ACC		0.622	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158	
PLIN3	10226	hgsc.bcm.edu	37	19	4839394	4839394	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:4839394G>A	ENST00000221957.4	-	8	1291	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	PLIN3_ENST00000592528.1_Missense_Mutation_p.T360M|CTC-518P12.6_ENST00000591657.1_RNA|PLIN3_ENST00000585479.1_Missense_Mutation_p.T371M	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	372					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)		p.T372M(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GCTGGAAAACGTGGCCTGGAG	0.667																																					p.T360M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1079T	19						.						45.0	38.0	40.0					19																	4839394		2203	4300	6503	4790394	SO:0001583	missense	10226	exon8			AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.1115C>T	19.37:g.4839394G>A	ENSP00000221957:p.Thr372Met	Somatic		Capture	SOLID	Phase_I	4790394	NM_001164194	A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148815	0.37923	.	.	ENSG00000105355	ENST00000221957	T	0.06068	3.35	4.97	2.61	0.31194	.	0.378678	0.25593	N	0.029613	T	0.24392	0.0591	M	0.77103	2.36	0.31767	N	0.632651	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.966;0.996;0.98	T	0.29027	-1.0025	10	0.62326	D	0.03	-18.1183	14.4381	0.67296	0.0:0.2803:0.7197:0.0	.	371;189;372	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	M	372	ENSP00000221957:T372M	ENSP00000221957:T372M	T	-	2	0	PLIN3	4790394	0.992000	0.36948	0.969000	0.41365	0.021000	0.10359	4.429000	0.59901	1.051000	0.40369	0.561000	0.74099	ACG		0.667	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817	
ERF	2077	hgsc.bcm.edu	37	19	42753982	42753982	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:42753982C>T	ENST00000222329.4	-	3	527	c.370G>A	c.(370-372)Gct>Act	p.A124T	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.A49T|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	124					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)	p.A124T(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TACTCACCAGCCAACCCCACA	0.542																																					p.A124T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G370A	19						.						293.0	237.0	256.0					19																	42753982		2203	4300	6503	47445822	SO:0001583	missense	2077	exon3			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.370G>A	19.37:g.42753982C>T	ENSP00000222329:p.Ala124Thr	Somatic		Capture	SOLID	Phase_I	47445822	NM_006494	B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955227	0.34471	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.55760	0.5;0.5	5.49	4.45	0.53987	.	0.279156	0.31531	N	0.007482	T	0.28333	0.0700	N	0.04508	-0.205	0.46317	D	0.998981	B	0.12013	0.005	B	0.06405	0.002	T	0.08432	-1.0722	10	0.15499	T	0.54	.	12.7063	0.57061	0.0:0.919:0.0:0.081	.	124	P50548	ERF_HUMAN	T	124;49	ENSP00000222329:A124T;ENSP00000388173:A49T	ENSP00000222329:A124T	A	-	1	0	ERF	47445822	0.024000	0.19004	1.000000	0.80357	0.994000	0.84299	0.923000	0.28757	1.466000	0.48025	0.655000	0.94253	GCT		0.542	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494	
ZNF224	7767	hgsc.bcm.edu	37	19	44611527	44611527	+	Missense_Mutation	SNP	G	G	A	rs370649178		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:44611527G>A	ENST00000336976.6	+	6	1468	c.1214G>A	c.(1213-1215)tGt>tAt	p.C405Y	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	405					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C405Y(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TGTGAAGAATGTGGGAAAGGA	0.418																																					p.C405Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1214A	19						.	G	TYR/CYS	0,4406		0,0,2203	77.0	79.0	79.0		1214	2.8	0.6	19		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF224	NM_013398.2	194	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	405/708	44611527	1,13005	2203	4300	6503	49303367	SO:0001583	missense	7767	exon6			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1214G>A	19.37:g.44611527G>A	ENSP00000337368:p.Cys405Tyr	Somatic		Capture	SOLID	Phase_I	49303367	NM_013398	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	g	27.2	4.814050	0.90790	0.0	1.16E-4	ENSG00000186019	ENST00000336976	D	0.85861	-2.04	2.84	2.84	0.33178	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93307	0.7867	M	0.93106	3.38	0.41986	D	0.990822	D	0.89917	1.0	D	0.91635	0.999	D	0.94629	0.7820	9	0.87932	D	0	.	12.8602	0.57910	0.0:0.0:1.0:0.0	.	405	Q9NZL3	ZN224_HUMAN	Y	405	ENSP00000337368:C405Y	ENSP00000337368:C405Y	C	+	2	0	ZNF224	49303367	1.000000	0.71417	0.570000	0.28473	0.929000	0.56500	5.440000	0.66563	1.590000	0.49995	0.591000	0.81541	TGT		0.418	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398	
ZNF224	7767	hgsc.bcm.edu	37	19	44612266	44612266	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:44612266A>G	ENST00000336976.6	+	6	2207	c.1953A>G	c.(1951-1953)ccA>ccG	p.P651P	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	651					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P651P(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TAGAAAAGCCATACAAATGTG	0.438																																					p.P651P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1953G	19						.						98.0	93.0	94.0					19																	44612266		2203	4300	6503	49304106	SO:0001819	synonymous_variant	7767	exon6			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1953A>G	19.37:g.44612266A>G		Somatic		Capture	SOLID	Phase_I	49304106	NM_013398	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Silent	SNP	ENST00000336976.6	37	CCDS33046.1																																																																																				0.438	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398	
BCL3	602	hgsc.bcm.edu	37	19	45262750	45262750	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:45262750C>A	ENST00000164227.5	+	9	1487	c.1243C>A	c.(1243-1245)Ccc>Acc	p.P415T		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	415	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P407T(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCCTGGATTCCCCATGGCTCC	0.657			T	IGH@	CLL																																p.P415T			Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1243A	19						.						172.0	187.0	182.0					19																	45262750		2203	4300	6503	49954590	SO:0001583	missense	602	exon9			M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1243C>A	19.37:g.45262750C>A	ENSP00000164227:p.Pro415Thr	Somatic		Capture	SOLID	Phase_I	49954590	NM_005178		Missense_Mutation	SNP	ENST00000164227.5	37	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881065	0.33255	.	.	ENSG00000069399	ENST00000164227	T	0.37584	1.19	4.64	1.28	0.21552	.	0.449653	0.18708	N	0.133395	T	0.19127	0.0459	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.14811	-1.0459	10	0.56958	D	0.05	-14.03	3.5031	0.07680	0.1778:0.5342:0.0:0.288	.	415	P20749	BCL3_HUMAN	T	415	ENSP00000164227:P415T	ENSP00000164227:P415T	P	+	1	0	BCL3	49954590	0.001000	0.12720	0.069000	0.20011	0.971000	0.66376	0.185000	0.16958	0.059000	0.16252	0.491000	0.48974	CCC		0.657	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178	
PTPRS	5802	hgsc.bcm.edu	37	19	5225777	5225777	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:5225777C>T	ENST00000587303.1	-	16	2554	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T	PTPRS_ENST00000372412.4_Missense_Mutation_p.A820T|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.A815T|PTPRS_ENST00000357368.4_Missense_Mutation_p.A819T|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.A797T|PTPRS_ENST00000348075.2_Missense_Mutation_p.A797T			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	819	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A819T(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TTGCTGCGAGCGCCATCGCCC	0.627																																					p.A819T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2455A	19						.						128.0	92.0	104.0					19																	5225777		2203	4300	6503	5176777	SO:0001583	missense	5802	exon17			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2455G>A	19.37:g.5225777C>T	ENSP00000467537:p.Ala819Thr	Somatic		Capture	SOLID	Phase_I	5176777	NM_002850	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.156157	0.78114	.	.	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	3.25	3.25	0.37280	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.168332	0.38058	U	0.001824	T	0.59865	0.2225	M	0.78344	2.41	0.80722	D	1	P;P	0.52692	0.955;0.889	B;P	0.46850	0.345;0.529	T	0.70339	-0.4899	10	0.59425	D	0.04	.	15.1052	0.72315	0.0:1.0:0.0:0.0	.	797;819	Q13332-6;Q13332	.;PTPRS_HUMAN	T	820;819;819;810;815;797	ENSP00000361489:A820T;ENSP00000349932:A819T;ENSP00000262963:A815T;ENSP00000269907:A797T	ENSP00000262963:A815T	A	-	1	0	PTPRS	5176777	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.543000	0.67225	1.851000	0.53745	0.473000	0.43528	GCT		0.627	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
MARK4	57787	hgsc.bcm.edu	37	19	45783978	45783978	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:45783978G>T	ENST00000262891.4	+	12	1593	c.1262G>T	c.(1261-1263)aGg>aTg	p.R421M	MARK4_ENST00000300843.4_Missense_Mutation_p.R421M	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	421					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)	p.R421M(1)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGCCAGCGCAGGCATAGCGAT	0.597																																					p.R421M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1262T	19						.						108.0	86.0	93.0					19																	45783978		2203	4300	6503	50475818	SO:0001583	missense	57787	exon12			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1262G>T	19.37:g.45783978G>T	ENSP00000262891:p.Arg421Met	Somatic		Capture	SOLID	Phase_I	50475818	NM_001199867	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302388	0.81136	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.74002	-0.73;-0.8	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.86847	0.6031	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.993;0.995	D	0.87575	0.2480	10	0.87932	D	0	.	17.7884	0.88545	0.0:0.0:1.0:0.0	.	287;421;421	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	M	421	ENSP00000262891:R421M;ENSP00000300843:R421M	ENSP00000262891:R421M	R	+	2	0	MARK4	50475818	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	8.479000	0.90431	2.804000	0.96469	0.462000	0.41574	AGG		0.597	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417	
C5AR2	27202	hgsc.bcm.edu	37	19	47844350	47844350	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:47844350C>T	ENST00000595464.1	+	2	512	c.294C>T	c.(292-294)ggC>ggT	p.G98G	C5AR2_ENST00000600626.1_Silent_p.G98G|C5AR2_ENST00000257267.2_Silent_p.G98G	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	98					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)	p.G98G(1)									CCCGTGGAGGCCACTGGCCGT	0.657																																					p.G98G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C294T	19						.						92.0	86.0	88.0					19																	47844350		2203	4300	6503	52536190	SO:0001819	synonymous_variant	27202	exon2			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.294C>T	19.37:g.47844350C>T		Somatic		Capture	SOLID	Phase_I	52536190	NM_018485	B2RA09	Silent	SNP	ENST00000595464.1	37	CCDS12699.1																																																																																				0.657	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485	
PLA2G4C	8605	hgsc.bcm.edu	37	19	48565337	48565337	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:48565337G>A	ENST00000599921.1	-	14	1532	c.1175C>T	c.(1174-1176)aCt>aTt	p.T392I	CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.T402I|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.T392I|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.T392I|CTD-2265M8.2_ENST00000601950.1_RNA|CTD-2265M8.2_ENST00000596552.1_RNA			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	392	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.T392I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TGGGAAGGGAGTGTTGATGGC	0.572																																					p.T392I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1175T	19						.						89.0	72.0	78.0					19																	48565337		2203	4300	6503	53257149	SO:0001583	missense	8605	exon14			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1175C>T	19.37:g.48565337G>A	ENSP00000469473:p.Thr392Ile	Somatic		Capture	SOLID	Phase_I	53257149	NM_001159323	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905033	0.52333	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.15952	2.38;2.38	2.79	-2.61	0.06171	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	2.981160	0.01529	U	0.018697	T	0.15825	0.0381	L	0.52573	1.65	0.20703	N	0.999866	B;P	0.36086	0.049;0.536	B;B	0.27380	0.044;0.079	T	0.41893	-0.9483	10	0.49607	T	0.09	-3.208	9.9079	0.41388	0.0:0.6326:0.3674:0.0	.	402;392	B4DI40;Q9UP65	.;PA24C_HUMAN	I	392	ENSP00000346228:T392I;ENSP00000400036:T392I	ENSP00000346228:T392I	T	-	2	0	PLA2G4C	53257149	0.944000	0.32072	0.894000	0.35097	0.243000	0.25628	0.950000	0.29122	-0.166000	0.10890	0.405000	0.27470	ACT		0.572	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
KCNJ14	3770	hgsc.bcm.edu	37	19	48967793	48967793	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:48967793G>T	ENST00000391884.1	+	2	1546	c.1070G>T	c.(1069-1071)gGg>gTg	p.G357V	CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.5_ENST00000593476.1_RNA|CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.6_ENST00000597574.1_lincRNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.G357V|CTC-273B12.5_ENST00000596497.1_RNA			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	357					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	GAGGTCCCAGGGACACCGGTC	0.557																																					p.G357V	NSCLC(148;170 3504 35216)											.	.	0			c.G1070T	19						.						69.0	63.0	65.0					19																	48967793		2203	4300	6503	53659605	SO:0001583	missense	3770	exon3			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.1070G>T	19.37:g.48967793G>T	ENSP00000375756:p.Gly357Val	Somatic		Capture	SOLID	Phase_I	53659605	NM_013348		Missense_Mutation	SNP	ENST00000391884.1	37	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945394	0.73672	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.88896	-2.44;-2.44	5.24	5.24	0.73138	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.255608	0.40144	N	0.001175	D	0.90738	0.7093	L	0.40543	1.245	0.54753	D	0.999982	P	0.42993	0.797	P	0.55667	0.781	D	0.90805	0.4697	10	0.59425	D	0.04	.	17.1398	0.86749	0.0:0.0:1.0:0.0	.	357	Q9UNX9	IRK14_HUMAN	V	357	ENSP00000341479:G357V;ENSP00000375756:G357V	ENSP00000341479:G357V	G	+	2	0	KCNJ14	53659605	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.146000	0.64845	2.837000	0.97791	0.655000	0.94253	GGG		0.557	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348	
PPFIA3	8541	hgsc.bcm.edu	37	19	49632702	49632702	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:49632702C>T	ENST00000334186.4	+	5	922	c.573C>T	c.(571-573)agC>agT	p.S191S	PPFIA3_ENST00000602351.1_Silent_p.S191S	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	191					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGGAACTGAGCAATCAGGAGG	0.662																																					p.S191S												.	.	0			c.C573T	19						.						18.0	19.0	19.0					19																	49632702		2140	4209	6349	54324514	SO:0001819	synonymous_variant	8541	exon5			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.573C>T	19.37:g.49632702C>T		Somatic		Capture	SOLID	Phase_I	54324514	NM_003660	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	CCDS12758.1																																																																																				0.662	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660	
RCN3	57333	hgsc.bcm.edu	37	19	50040445	50040445	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:50040445C>T	ENST00000270645.3	+	4	1048	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	201	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)	p.R201W(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CCCTCACATGCGGGACATCGT	0.662																																					p.R201W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C601T	19						.						105.0	104.0	105.0					19																	50040445		2203	4300	6503	54732257	SO:0001583	missense	57333	exon4			AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.601C>T	19.37:g.50040445C>T	ENSP00000270645:p.Arg201Trp	Somatic		Capture	SOLID	Phase_I	54732257	NM_020650	Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	37	CCDS12771.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281347	0.40394	.	.	ENSG00000142552	ENST00000270645	T	0.55234	0.53	5.05	1.6	0.23607	EF-hand-like domain (1);	0.126838	0.53938	D	0.000051	T	0.56093	0.1962	M	0.72479	2.2	0.48087	D	0.999583	D	0.56287	0.975	P	0.46659	0.523	T	0.58725	-0.7586	10	0.40728	T	0.16	-36.5803	15.1207	0.72441	0.4588:0.5412:0.0:0.0	.	201	Q96D15	RCN3_HUMAN	W	201	ENSP00000270645:R201W	ENSP00000270645:R201W	R	+	1	2	RCN3	54732257	1.000000	0.71417	0.996000	0.52242	0.423000	0.31445	2.217000	0.42880	-0.084000	0.12595	-2.281000	0.00270	CGG		0.662	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650	
POLD1	5424	hgsc.bcm.edu	37	19	50918106	50918106	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:50918106G>A	ENST00000440232.2	+	20	2476	c.2423G>A	c.(2422-2424)cGc>cAc	p.R808H	POLD1_ENST00000595904.1_Missense_Mutation_p.R834H|POLD1_ENST00000599857.1_Missense_Mutation_p.R808H|CTD-2545M3.6_ENST00000599632.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	808			R -> H (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R808H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AGCAAGAAGCGCTACGCGGGC	0.672								DNA polymerases (catalytic subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R808H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2423A	19						.						58.0	56.0	56.0					19																	50918106		2203	4300	6503	55609918	SO:0001583	missense	5424	exon20				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2423G>A	19.37:g.50918106G>A	ENSP00000406046:p.Arg808His	Somatic	973	Capture	SOLID	Phase_I	55609918	NM_002691	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689647	0.88735	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.27890	1.64	4.84	3.8	0.43715	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.062223	0.64402	N	0.000004	T	0.70133	0.3189	H	0.98965	4.385	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.978	T	0.81272	-0.1008	10	0.66056	D	0.02	-24.9737	12.4773	0.55821	0.0838:0.0:0.9162:0.0	.	834;808	E7EVW0;P28340	.;DPOD1_HUMAN	H	808;809	ENSP00000406046:R808H	ENSP00000366129:R809H	R	+	2	0	POLD1	55609918	1.000000	0.71417	0.986000	0.45419	0.727000	0.41649	9.011000	0.93618	1.198000	0.43158	0.550000	0.68814	CGC		0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		
ZNF350	59348	hgsc.bcm.edu	37	19	52472333	52472333	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:52472333G>T	ENST00000243644.4	-	3	294	c.67C>A	c.(67-69)Caa>Aaa	p.Q23K	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'UTR	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q23K(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CCCAGGAGTTGCCACTCCTCC	0.507																																					p.Q23K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C67A	19						.						162.0	144.0	150.0					19																	52472333		2203	4300	6503	57164145	SO:0001583	missense	59348	exon3			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.67C>A	19.37:g.52472333G>T	ENSP00000243644:p.Gln23Lys	Somatic		Capture	SOLID	Phase_I	57164145	NM_021632	Q96G73|Q9HAQ4	Missense_Mutation	SNP	ENST00000243644.4	37	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229223	0.39399	.	.	ENSG00000256683	ENST00000243644	T	0.01629	4.72	3.43	2.31	0.28768	Krueppel-associated box (4);	0.000000	0.32386	N	0.006162	T	0.01976	0.0062	L	0.47078	1.49	0.24338	N	0.994974	P	0.41624	0.757	B	0.40602	0.334	T	0.45963	-0.9225	10	0.41790	T	0.15	.	5.1944	0.15227	0.0:0.207:0.5448:0.2483	.	23	Q9GZX5	ZN350_HUMAN	K	23	ENSP00000243644:Q23K	ENSP00000243644:Q23K	Q	-	1	0	ZNF350	57164145	0.841000	0.29509	0.998000	0.56505	0.341000	0.28922	1.053000	0.30442	1.746000	0.51805	0.585000	0.79938	CAA		0.507	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632	
ZNF614	80110	hgsc.bcm.edu	37	19	52521642	52521642	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:52521642A>G	ENST00000270649.6	-	3	665	c.121T>C	c.(121-123)Tat>Cat	p.Y41H	ZNF614_ENST00000356322.6_Missense_Mutation_p.Y41H	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y41H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGTGGTTATAGTTCTCCACC	0.512																																					p.Y41H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T121C	19						.						144.0	136.0	138.0					19																	52521642		2203	4300	6503	57213454	SO:0001583	missense	80110	exon3			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.121T>C	19.37:g.52521642A>G	ENSP00000270649:p.Tyr41His	Somatic		Capture	SOLID	Phase_I	57213454	NM_025040	Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712992	0.48517	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.02498	4.27;4.27	3.23	2.08	0.27032	Krueppel-associated box (4);	.	.	.	.	T	0.20047	0.0482	H	0.96547	3.84	0.20196	N	0.999923	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.03875	-1.0996	9	0.72032	D	0.01	.	6.8708	0.24119	0.7932:0.0:0.0:0.2068	.	41;41	Q8N883;Q9BSN8	ZN614_HUMAN;.	H	41	ENSP00000348674:Y41H;ENSP00000270649:Y41H	ENSP00000270649:Y41H	Y	-	1	0	ZNF614	57213454	0.854000	0.29725	0.910000	0.35882	0.714000	0.41099	2.411000	0.44600	1.468000	0.48064	0.482000	0.46254	TAT		0.512	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040	
ZNF816	125893	hgsc.bcm.edu	37	19	53454062	53454062	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:53454062G>A	ENST00000357666.4	-	5	1266	c.966C>T	c.(964-966)ttC>ttT	p.F322F	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.F322F	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F322F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACTTCTCACTGAAGGTCTTGC	0.448																																					p.F322F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C966T	19						.						163.0	168.0	166.0					19																	53454062		2200	4300	6500	58145874	SO:0001819	synonymous_variant	125893	exon5			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.966C>T	19.37:g.53454062G>A		Somatic		Capture	SOLID	Phase_I	58145874	NM_001031665	A8K7H5|Q3KR39|Q659B3	Silent	SNP	ENST00000357666.4	37	CCDS33096.1																																																																																				0.448	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665	
VN1R4	317703	hgsc.bcm.edu	37	19	53770298	53770298	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:53770298G>A	ENST00000311170.4	-	1	674	c.621C>T	c.(619-621)caC>caT	p.H207H	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	207					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.H207H(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GCTTGTGCCTGTGCAGTATGC	0.542										HNSCC(26;0.072)																											p.H207H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C621T	19						.						68.0	64.0	66.0					19																	53770298		2196	4300	6496	58462110	SO:0001819	synonymous_variant	317703	exon1			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.621C>T	19.37:g.53770298G>A		Somatic		Capture	SOLID	Phase_I	58462110	NM_173857	Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Silent	SNP	ENST00000311170.4	37	CCDS33099.1																																																																																				0.542	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857	
RPS9	6203	hgsc.bcm.edu	37	19	54710158	54710158	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:54710158C>T	ENST00000302907.4	+	4	407	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	RPS9_ENST00000402367.1_Missense_Mutation_p.R79W|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000391752.1_Missense_Mutation_p.R79W|RPS9_ENST00000391753.2_Missense_Mutation_p.R79W|RPS9_ENST00000441429.1_Missense_Mutation_p.R79W	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	79					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)	p.R79W(1)		NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		CGCCCTGCTGCGGCGGCTGGT	0.572																																					p.R79W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C235T	19						.						35.0	34.0	35.0					19																	54710158		2203	4300	6503	59401970	SO:0001583	missense	6203	exon4			U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.235C>T	19.37:g.54710158C>T	ENSP00000302896:p.Arg79Trp	Somatic		Capture	SOLID	Phase_I	59401970	NM_001013	A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	ENST00000302907.4	37	CCDS12884.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865068	0.51482	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000402367;ENST00000391753;ENST00000441429	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	4.49	3.43	0.39272	Ribosomal protein S4/S9, N-terminal (1);	0.049211	0.85682	N	0.000000	T	0.80287	0.4595	H	0.94734	3.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	D	0.83641	0.0150	10	0.72032	D	0.01	-28.8164	10.4541	0.44539	0.3498:0.6502:0.0:0.0	.	79;79;79	B5MCT8;C9JM19;P46781	.;.;RS9_HUMAN	W	79	ENSP00000302896:R79W;ENSP00000375632:R79W;ENSP00000383937:R79W;ENSP00000375633:R79W;ENSP00000414314:R79W	ENSP00000302896:R79W	R	+	1	2	RPS9	59401970	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	1.598000	0.36740	1.161000	0.42604	0.655000	0.94253	CGG		0.572	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013	
BRSK1	84446	hgsc.bcm.edu	37	19	55817695	55817695	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:55817695G>A	ENST00000309383.1	+	17	2243	c.1966G>A	c.(1966-1968)Gtc>Atc	p.V656I	BRSK1_ENST00000590333.1_Missense_Mutation_p.V672I|BRSK1_ENST00000326848.7_Missense_Mutation_p.V351I	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	656					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.V656I(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CGGCCCCTCCGTCTTCCAAAA	0.637																																					p.V656I												.	.	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)	c.G1966A	19						.						58.0	57.0	57.0					19																	55817695		2203	4300	6503	60509507	SO:0001583	missense	84446	exon17			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1966G>A	19.37:g.55817695G>A	ENSP00000310649:p.Val656Ile	Somatic		Capture	SOLID	Phase_I	60509507	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.466384	0.84425	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.73789	-0.78;1.74	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000003	D	0.84946	0.5585	M	0.69358	2.11	0.54753	D	0.999987	D;D	0.71674	0.997;0.998	D;D	0.73708	0.959;0.981	D	0.86005	0.1497	10	0.62326	D	0.03	.	17.7465	0.88422	0.0:0.0:1.0:0.0	.	656;672	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	I	656;351;351	ENSP00000310649:V656I;ENSP00000320853:V351I	ENSP00000310649:V656I	V	+	1	0	BRSK1	60509507	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.189000	0.94928	2.572000	0.86782	0.555000	0.69702	GTC		0.637	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	
PEG3	5178	hgsc.bcm.edu	37	19	57326102	57326102	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:57326102A>T	ENST00000326441.9	-	10	4071	c.3708T>A	c.(3706-3708)caT>caA	p.H1236Q	PEG3_ENST00000593695.1_Missense_Mutation_p.H1110Q|PEG3_ENST00000598410.1_Missense_Mutation_p.H1112Q|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H1236Q|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1236					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H1236Q(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGGCAGAGCTATGAATGAAGC	0.507																																					p.H1236Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3708A	19						.						62.0	58.0	59.0					19																	57326102		2203	4300	6503	62017914	SO:0001583	missense	5178	exon7			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3708T>A	19.37:g.57326102A>T	ENSP00000326581:p.His1236Gln	Somatic		Capture	SOLID	Phase_I	62017914	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.799156	0.31777	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.27104	1.69;1.69	4.06	-4.17	0.03857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000241	T	0.23926	0.0579	N	0.16066	0.365	.	.	.	P;D;D	0.76494	0.789;0.992;0.999	P;D;D	0.70227	0.608;0.936;0.968	T	0.26643	-1.0097	9	0.09590	T	0.72	-26.2868	14.951	0.71074	0.2158:0.0:0.7842:0.0	.	1112;1236;1171	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Q	1236	ENSP00000326581:H1236Q;ENSP00000403051:H1236Q	ENSP00000326581:H1236Q	H	-	3	2	ZIM2	62017914	0.000000	0.05858	0.813000	0.32504	0.983000	0.72400	-2.344000	0.01098	-0.792000	0.04480	-0.408000	0.06270	CAT		0.507	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
ZNF547	284306	hgsc.bcm.edu	37	19	57888766	57888766	+	Missense_Mutation	SNP	C	C	T	rs201194074		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:57888766C>T	ENST00000282282.3	+	4	572	c.422C>T	c.(421-423)cCg>cTg	p.P141L	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGGAAGACCGACATTTGTG	0.483																																					p.P141L												.	.	0			c.C422T	19						.	C	LEU/PRO	0,4406		0,0,2203	72.0	70.0	71.0		422	-2.6	0.0	19		71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF547	NM_173631.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	141/403	57888766	1,13005	2203	4300	6503	62580578	SO:0001583	missense	284306	exon4			AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.422C>T	19.37:g.57888766C>T	ENSP00000282282:p.Pro141Leu	Somatic		Capture	SOLID	Phase_I	62580578	NM_173631	A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	C	6.680	0.494027	0.12702	0.0	1.16E-4	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.05258	3.47	2.09	-2.61	0.06171	.	.	.	.	.	T	0.05777	0.0151	L	0.38175	1.15	0.09310	N	1	B;P;D	0.64830	0.012;0.913;0.994	B;B;B	0.43194	0.003;0.118;0.411	T	0.31779	-0.9931	9	0.49607	T	0.09	.	8.906	0.35523	0.0:0.2326:0.0:0.7674	.	141;141;141	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	L	141	ENSP00000282282:P141L	ENSP00000282282:P141L	P	+	2	0	ZNF547	62580578	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.460000	0.06720	-0.642000	0.05480	-0.339000	0.08088	CCG		0.483	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631	
ACER1	125981	hgsc.bcm.edu	37	19	6309776	6309776	+	Silent	SNP	C	C	T	rs542183249		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:6309776C>T	ENST00000301452.4	-	4	497	c.420G>A	c.(418-420)acG>acA	p.T140T		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	140					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)	p.T140T(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AGGCGTTGACCGTGGGCCGCA	0.612																																					p.T140T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G420A	19						.						142.0	104.0	117.0					19																	6309776		2203	4300	6503	6260776	SO:0001819	synonymous_variant	125981	exon4			AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.420G>A	19.37:g.6309776C>T		Somatic		Capture	SOLID	Phase_I	6260776	NM_133492		Silent	SNP	ENST00000301452.4	37	CCDS12161.1																																																																																				0.612	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492	
ZNF547	284306	hgsc.bcm.edu	37	19	57888778	57888778	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:57888778A>T	ENST00000282282.3	+	4	584	c.434A>T	c.(433-435)aAg>aTg	p.K145M	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACATTTGTGAAGAACCACAGA	0.468																																					p.K145M												.	.	0			c.A434T	19						.						70.0	69.0	69.0					19																	57888778		2203	4300	6503	62580590	SO:0001583	missense	284306	exon4			AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.434A>T	19.37:g.57888778A>T	ENSP00000282282:p.Lys145Met	Somatic		Capture	SOLID	Phase_I	62580590	NM_173631	A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	A	6.576	0.474578	0.12521	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.06687	3.27	2.09	-0.193	0.13244	.	.	.	.	.	T	0.16811	0.0404	M	0.67397	2.05	0.09310	N	1	P;D;B	0.76494	0.872;0.999;0.127	B;P;B	0.58454	0.278;0.839;0.027	T	0.10823	-1.0613	9	0.54805	T	0.06	.	4.5711	0.12210	0.4337:0.3968:0.0:0.1695	.	145;145;145	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	M	145	ENSP00000282282:K145M	ENSP00000282282:K145M	K	+	2	0	ZNF547	62580590	0.000000	0.05858	0.001000	0.08648	0.139000	0.21198	-0.847000	0.04331	-0.095000	0.12351	0.402000	0.26972	AAG		0.468	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631	
FCER2	2208	hgsc.bcm.edu	37	19	7755121	7755121	+	Missense_Mutation	SNP	C	C	A	rs148627411	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:7755121C>A	ENST00000346664.5	-	10	864	c.652G>T	c.(652-654)Ggc>Tgc	p.G218C	FCER2_ENST00000597921.1_Missense_Mutation_p.G218C|FCER2_ENST00000360067.4_Missense_Mutation_p.G217C	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	218	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)	p.G218C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						ATCCAGGAGCCGGTGTGGCTG	0.627																																					p.G218C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G652T	19						.						61.0	61.0	61.0					19																	7755121		2203	4300	6503	7661121	SO:0001583	missense	2208	exon10			M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"""C-type lectin domain containing"", ""CD molecules"""	3612	protein-coding gene	gene with protein product		151445	"""Fc fragment of IgE, low affinity II, receptor for (CD23A)"""	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.652G>T	19.37:g.7755121C>A	ENSP00000264072:p.Gly218Cys	Somatic		Capture	SOLID	Phase_I	7661121	NM_002002		Missense_Mutation	SNP	ENST00000346664.5	37	CCDS12184.1	.	.	.	.	.	.	.	.	.	.	c	9.224	1.034190	0.19590	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.18810	2.19;2.19	3.46	1.28	0.21552	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.551240	0.13663	U	0.371434	T	0.44030	0.1274	M	0.88704	2.975	0.09310	N	1	D	0.61697	0.99	P	0.61940	0.896	T	0.22243	-1.0222	10	0.66056	D	0.02	.	6.1785	0.20457	0.0:0.7494:0.0:0.2506	.	218	P06734	FCER2_HUMAN	C	218;217	ENSP00000264072:G218C;ENSP00000353178:G217C	ENSP00000264072:G218C	G	-	1	0	FCER2	7661121	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.731000	0.04909	0.157000	0.19338	-0.896000	0.02909	GGC		0.627	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002	
CD209	30835	hgsc.bcm.edu	37	19	7809881	7809881	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:7809881G>A	ENST00000315599.7	-	5	868	c.846C>T	c.(844-846)acC>acT	p.T282T	CD209_ENST00000601951.1_Silent_p.T258T|CD209_ENST00000301357.8_Silent_p.T146T|CD209_ENST00000602261.1_Silent_p.T190T|CD209_ENST00000593821.1_Silent_p.T146T|CD209_ENST00000204801.8_Silent_p.T238T|CD209_ENST00000601256.1_Silent_p.T258T|CD209_ENST00000593660.1_Silent_p.T212T|CD209_ENST00000394161.5_Intron|CD209_ENST00000315591.8_Silent_p.T258T|CD209_ENST00000394173.4_Silent_p.T121T|CD209_ENST00000354397.6_Silent_p.T282T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	282	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.T282T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTTGCAGGCGGTGATGGAGT	0.582																																					p.T238T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C714T	19						.						89.0	84.0	86.0					19																	7809881		2203	4300	6503	7715881	SO:0001819	synonymous_variant	30835	exon3			M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.846C>T	19.37:g.7809881G>A		Somatic		Capture	SOLID	Phase_I	7715881	NM_001144894	A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	CCDS12186.1																																																																																				0.582	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155	
ZNF559	84527	hgsc.bcm.edu	37	19	9453181	9453181	+	Missense_Mutation	SNP	C	C	T	rs375248615		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:9453181C>T	ENST00000393883.2	+	6	1702	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000587557.1_Missense_Mutation_p.P416S|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000541595.2_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.P352S|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.P272S	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P352S(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TGGAGAAAAGCCTTATGAATG	0.408																																					p.P352S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1054T	19						.						64.0	59.0	61.0					19																	9453181		2203	4300	6503	9314181	SO:0001583	missense	84527	exon6			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1054C>T	19.37:g.9453181C>T	ENSP00000377461:p.Pro352Ser	Somatic		Capture	SOLID	Phase_I	9314181	NM_032497	K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688335	0.68271	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.16743	2.32;2.32	2.13	2.13	0.27403	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32971	0.0847	L	0.53249	1.67	0.27558	N	0.950287	P;D;D	0.89917	0.644;0.995;1.0	B;P;D	0.68621	0.104;0.809;0.959	T	0.04991	-1.0913	9	0.72032	D	0.01	.	10.3211	0.43767	0.0:1.0:0.0:0.0	.	352;352;272	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	S	352;272;352	ENSP00000442832:P272S;ENSP00000377461:P352S	ENSP00000325393:P352S	P	+	1	0	ZNF559	9314181	0.000000	0.05858	0.019000	0.16419	0.838000	0.47535	0.298000	0.19120	1.501000	0.48654	0.313000	0.20887	CCT		0.408	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497	
FCGBP	8857	hgsc.bcm.edu	37	19	40408821	40408821	+	Missense_Mutation	SNP	C	C	G	rs11083543	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:40408821C>G	ENST00000221347.6	-	8	4025	c.4018G>C	c.(4018-4020)Gtg>Ctg	p.V1340L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1340	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.		V -> L (in dbSNP:rs11083543).			extracellular vesicular exosome (GO:0070062)		p.V1340L(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCAGCACCACGGGCAGCTTC	0.577													C|||	1291	0.257788	0.121	0.4092	5008	,	,		19419	0.2173		0.3608	False		,,,				2504	0.271				p.V1340L												.	.	1	Substitution - Missense(1)	ovary(1)	c.G4018C	19						.	C	LEU/VAL	611,3795		45,521,1637	23.0	20.0	21.0		4018	-0.1	0.0	19	dbSNP_120	21	2976,5622		523,1930,1846	yes	missense	FCGBP	NM_003890.2	32	568,2451,3483	GG,GC,CC		34.6127,13.8675,27.5838	probably-damaging	1340/5406	40408821	3587,9417	2203	4299	6502	45100661	SO:0001583	missense	8857	exon8			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4018G>C	19.37:g.40408821C>G	ENSP00000221347:p.Val1340Leu	Somatic		Capture	SOLID	Phase_I	45100661	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	624	0.2857142857142857	76	0.15447154471544716	148	0.4088397790055249	125	0.21853146853146854	275	0.3627968337730871	C	12.27	1.888760	0.33348	0.138675	0.346127	ENSG00000090920	ENST00000221347	T	0.58797	0.31	4.95	-0.14	0.13456	von Willebrand factor, type D domain (3);	0.451564	0.18780	N	0.131345	T	0.00012	0.0000	N	0.25031	0.7	0.80722	P	0.0	B	0.25235	0.121	B	0.21151	0.033	T	0.40232	-0.9574	9	0.11485	T	0.65	.	2.6779	0.05085	0.1375:0.4356:0.268:0.1589	rs11083543;rs11083543	1340	Q9Y6R7	FCGBP_HUMAN	L	1340	ENSP00000221347:V1340L	ENSP00000221347:V1340L	V	-	1	0	FCGBP	45100661	0.000000	0.05858	0.015000	0.15790	0.023000	0.10783	-0.881000	0.04179	0.120000	0.18254	-0.182000	0.12963	GTG		0.577	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
CPT1C	126129	hgsc.bcm.edu	37	19	50191433	50191435	+	5'Flank	DEL	CAC	CAC	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	CAC	CAC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:50191433_50191435delCAC	ENST00000392518.4	+	0	0				CPT1C_ENST00000323446.5_5'Flank|CTB-33G10.6_ENST00000596472.1_RNA|PRMT1_ENST00000532489.1_In_Frame_Del_p.T304del|ADM5_ENST00000420022.3_5'Flank|CPT1C_ENST00000354199.5_5'Flank|PRMT1_ENST00000454376.2_In_Frame_Del_p.T350del|CPT1C_ENST00000405931.2_5'Flank|PRMT1_ENST00000391851.4_In_Frame_Del_p.T332del|PRMT1_ENST00000527866.1_3'UTR|CPT1C_ENST00000598293.1_5'Flank	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C						carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.T326delT(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ACCTGGACTTCACCATCGACCTG	0.695																																					p.331_332del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.993_995del	19						.																																			54883247	SO:0001631	upstream_gene_variant	3276	exon10			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5			19.37:g.50191433_50191435delCAC	Exception_encountered	Somatic		Capture	SOLID	Phase_I	54883245	NM_198318	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	In_Frame_Del	DEL	ENST00000392518.4	37	CCDS12779.1																																																																																				0.695	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359	
ZNF329	79673	hgsc.bcm.edu	37	19	58640170	58640170	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr19:58640170T>A	ENST00000598312.1	-	4	934	c.701A>T	c.(700-702)aAt>aTt	p.N234I	ZNF329_ENST00000358067.4_Missense_Mutation_p.N234I	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N234I(1)		NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TCCACACTCATTACAAGTATA	0.418																																					p.N234I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A701T	19						.						143.0	137.0	139.0					19																	58640170		2203	4300	6503	63331982	SO:0001583	missense	79673	exon4			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.701A>T	19.37:g.58640170T>A	ENSP00000470008:p.Asn234Ile	Somatic		Capture	SOLID	Phase_I	63331982	NM_024620	B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067639	0.55539	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.17691	2.26;2.26	4.45	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.269426	0.26658	N	0.023173	T	0.13500	0.0327	L	0.42581	1.335	0.25659	N	0.986021	P	0.35155	0.487	B	0.38378	0.272	T	0.12682	-1.0538	10	0.42905	T	0.14	-10.7905	4.9203	0.13867	0.0:0.1665:0.299:0.5345	.	234	Q86UD4	ZN329_HUMAN	I	234	ENSP00000350773:N234I;ENSP00000439527:N234I	ENSP00000350773:N234I	N	-	2	0	ZNF329	63331982	0.000000	0.05858	0.998000	0.56505	0.981000	0.71138	-0.975000	0.03790	0.136000	0.18733	0.528000	0.53228	AAT		0.418	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620	
AZIN1	51582	hgsc.bcm.edu	37	8	103851945	103851945	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:103851945C>T	ENST00000337198.5	-	4	1372	c.209G>A	c.(208-210)tGc>tAc	p.C70Y	AZIN1_ENST00000347770.4_Missense_Mutation_p.C70Y|AZIN1_ENST00000522311.1_5'UTR	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	70					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)	p.C70Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AGCAGAGTTGCACTTCACTGT	0.378																																					p.C70Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G209A	8						.						142.0	124.0	130.0					8																	103851945		2203	4300	6503	103921121	SO:0001583	missense	51582	exon5			AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"""ornithine decarboxylase 1-like"""	607909	"""ornithine decarboxylase antizyme inhibitor"""	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.209G>A	8.37:g.103851945C>T	ENSP00000337180:p.Cys70Tyr	Somatic		Capture	SOLID	Phase_I	103921121	NM_015878	A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	ENST00000337198.5	37	CCDS6295.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955480	0.92726	.	.	ENSG00000155096	ENST00000337198;ENST00000347770;ENST00000520402	T;T	0.55588	0.51;0.51	5.6	5.6	0.85130	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80352	0.4607	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84786	0.0776	10	0.87932	D	0	-2.8465	19.6334	0.95719	0.0:1.0:0.0:0.0	.	70	O14977	AZIN1_HUMAN	Y	70	ENSP00000337180:C70Y;ENSP00000321507:C70Y	ENSP00000337180:C70Y	C	-	2	0	AZIN1	103921121	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.770000	0.62309	2.642000	0.89623	0.650000	0.86243	TGC		0.378	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1		
LRP12	29967	hgsc.bcm.edu	37	8	105502999	105502999	+	Missense_Mutation	SNP	G	G	A	rs138849088		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:105502999G>A	ENST00000276654.5	-	7	2590	c.2482C>T	c.(2482-2484)Cgc>Tgc	p.R828C	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.R809C	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	828					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.R828C(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATACCACAGCGCTCACAGGGG	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		18899	0.0		0.001	False		,,,				2504	0.0				p.R828C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2482T	8						.	G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	177.0	140.0	153.0		2425,2482	4.9	1.0	8	dbSNP_134	153	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	LRP12	NM_001135703.2,NM_013437.4	180,180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign	809/841,828/860	105502999	3,13003	2203	4300	6503	105572175	SO:0001583	missense	29967	exon7			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2482C>T	8.37:g.105502999G>A	ENSP00000276654:p.Arg828Cys	Somatic		Capture	SOLID	Phase_I	105572175	NM_013437	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.72	1.721910	0.30503	2.27E-4	2.33E-4	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.84370	-1.84;-1.77	5.81	4.94	0.65067	.	0.304630	0.41712	D	0.000824	T	0.68897	0.3051	N	0.08118	0	0.47994	D	0.999564	B;B	0.13145	0.007;0.0	B;B	0.08055	0.003;0.0	T	0.64300	-0.6440	10	0.49607	T	0.09	-6.1784	7.1612	0.25664	0.1446:0.0:0.7081:0.1473	.	809;828	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	C	809;828;193	ENSP00000399148:R809C;ENSP00000276654:R828C	ENSP00000276654:R828C	R	-	1	0	LRP12	105572175	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.047000	0.64232	1.457000	0.47850	0.650000	0.86243	CGC		0.448	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437	
KCNV1	27012	hgsc.bcm.edu	37	8	110980335	110980335	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:110980335T>C	ENST00000524391.1	-	4	2517	c.1485A>G	c.(1483-1485)ggA>ggG	p.G495G	KCNV1_ENST00000297404.1_Silent_p.G495G			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	495					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AGAAATCATCTCCCCCGCTGC	0.373																																					p.G495G												.	.	0			c.A1485G	8						.						61.0	60.0	61.0					8																	110980335		2203	4300	6503	111049511	SO:0001819	synonymous_variant	27012	exon3			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1485A>G	8.37:g.110980335T>C		Somatic		Capture	SOLID	Phase_I	111049511	NM_014379	Q9UHJ4	Silent	SNP	ENST00000524391.1	37	CCDS6314.1																																																																																				0.373	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379	
NEIL2	252969	hgsc.bcm.edu	37	8	11643755	11643755	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:11643755G>A	ENST00000284503.6	+	5	1571	c.972G>A	c.(970-972)gaG>gaA	p.E324E	NEIL2_ENST00000403422.3_Silent_p.E263E|NEIL2_ENST00000455213.2_Silent_p.E324E|NEIL2_ENST00000436750.3_Silent_p.E324E|NEIL2_ENST00000528323.1_Silent_p.E208E	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	324					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)	p.E324E(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		AGTTGTCAGAGGAGCCAGAGC	0.612								Base excision repair (BER), DNA glycosylases																													p.E208E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G624A	8						.						19.0	18.0	19.0					8																	11643755		2181	4279	6460	11681164	SO:0001819	synonymous_variant	252969	exon5			AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.972G>A	8.37:g.11643755G>A		Somatic		Capture	SOLID	Phase_I	11681164	NM_001135748	B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Silent	SNP	ENST00000284503.6	37	CCDS5984.1																																																																																				0.612	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043	
CSMD3	114788	hgsc.bcm.edu	37	8	113308206	113308206	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:113308206C>T	ENST00000297405.5	-	54	8714	c.8470G>A	c.(8470-8472)Gtg>Atg	p.V2824M	CSMD3_ENST00000455883.2_Missense_Mutation_p.V2655M|CSMD3_ENST00000352409.3_Missense_Mutation_p.V2754M|CSMD3_ENST00000343508.3_Missense_Mutation_p.V2784M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2824	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V2824M(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGACCATTCACAATCAGTTCT	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.V2824M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8470A	8						.						86.0	82.0	83.0					8																	113308206		2203	4300	6503	113377382	SO:0001583	missense	114788	exon54			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8470G>A	8.37:g.113308206C>T	ENSP00000297405:p.Val2824Met	Somatic		Capture	SOLID	Phase_I	113377382	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273063	0.80580	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (3);	0.086629	0.45867	D	0.000325	T	0.70911	0.3278	L	0.31476	0.935	0.52501	D	0.999957	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.91635	0.999;0.999;0.964	T	0.70547	-0.4842	10	0.40728	T	0.16	.	18.9718	0.92718	0.0:1.0:0.0:0.0	.	2655;2824;2784	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	2784;2824;2094;2655;2754	ENSP00000345799:V2784M;ENSP00000297405:V2824M;ENSP00000341558:V2094M;ENSP00000412263:V2655M;ENSP00000343124:V2754M	ENSP00000297405:V2824M	V	-	1	0	CSMD3	113377382	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.792000	0.85828	2.480000	0.83734	0.655000	0.94253	GTG		0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
NDRG1	10397	hgsc.bcm.edu	37	8	134274322	134274322	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:134274322G>T	ENST00000414097.2	-	5	1161	c.294C>A	c.(292-294)ggC>ggA	p.G98G	NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000354944.5_Intron|NDRG1_ENST00000537882.1_Silent_p.G17G|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000522476.1_Silent_p.G32G|NDRG1_ENST00000323851.7_Silent_p.G98G	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	98					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)	p.G98G(1)	NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CGTCCTGCTGGCCAGGGGCGT	0.612			T	ERG	prostate																																p.G98G			Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C294A	8						.						75.0	68.0	71.0					8																	134274322		2203	4300	6503	134343504	SO:0001819	synonymous_variant	10397	exon5			X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.294C>A	8.37:g.134274322G>T		Somatic		Capture	SOLID	Phase_I	134343504	NM_001135242	B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Silent	SNP	ENST00000414097.2	37	CCDS34945.1																																																																																				0.612	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1		
KHDRBS3	10656	hgsc.bcm.edu	37	8	136561135	136561135	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:136561135C>A	ENST00000355849.5	+	4	873	c.463C>A	c.(463-465)Ctc>Atc	p.L155I	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	155					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L155I(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			CAAAAAGTTCCTCATCCCTGT	0.383																																					p.L155I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C463A	8						.						108.0	89.0	96.0					8																	136561135		2203	4300	6503	136630317	SO:0001583	missense	10656	exon4			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.463C>A	8.37:g.136561135C>A	ENSP00000348108:p.Leu155Ile	Somatic		Capture	SOLID	Phase_I	136630317	NM_006558	Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138370	0.77775	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394	T;T;T	0.26067	1.76;1.76;1.76	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.49508	0.1561	M	0.71036	2.16	0.80722	D	1	D;P	0.89917	1.0;0.931	D;D	0.75020	0.985;0.91	T	0.53774	-0.8391	10	0.87932	D	0	-14.7742	13.9256	0.63961	0.0:0.9269:0.0:0.0731	.	155;155	O75525-2;O75525	.;KHDR3_HUMAN	I	155;127;128	ENSP00000348108:L155I;ENSP00000431022:L127I;ENSP00000430284:L128I	ENSP00000348108:L155I	L	+	1	0	KHDRBS3	136630317	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.818000	0.86416	1.411000	0.46957	-0.157000	0.13467	CTC		0.383	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1		
TRAPPC9	83696	hgsc.bcm.edu	37	8	140898213	140898213	+	Splice_Site	SNP	G	G	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:140898213G>C	ENST00000438773.2	-	21	3098	c.2965C>G	c.(2965-2967)Ccc>Gcc	p.P989A	TRAPPC9_ENST00000389327.3_Splice_Site_p.P980A|TRAPPC9_ENST00000389328.4_Splice_Site_p.P1087A|TRAPPC9_ENST00000522504.1_5'UTR	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	989					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTCAGGGAGGGGTGAGCCTTG	0.602																																					p.P989A												.	.	0			c.C2965G	8						.						23.0	22.0	22.0					8																	140898213		2188	4280	6468	140967395	SO:0001630	splice_region_variant	83696	exon21			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2965-1C>G	8.37:g.140898213G>C		Somatic		Capture	SOLID	Phase_I	140967395	NM_001160372	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.33|11.33	1.608012|1.608012	0.28623|0.28623	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773|ENST00000520857	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|.	.|.	.|.	.|.	T|T	0.67841|0.67841	0.2936|0.2936	L|L	0.46157|0.46157	1.445|1.445	0.53688|0.53688	D|D	0.999971|0.999971	P;P|.	0.46512|.	0.722;0.879|.	B;P|.	0.45639|.	0.171;0.488|.	T|T	0.63761|0.63761	-0.6564|-0.6564	8|5	0.08837|.	T|.	0.75|.	.|.	17.0314|17.0314	0.86462|0.86462	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	989;1087|.	Q96Q05;Q96Q05-2|.	TPPC9_HUMAN;.|.	A|R	1087;980;989|832	.|.	ENSP00000373978:P980A|.	P|P	-|-	1|2	0|0	TRAPPC9|TRAPPC9	140967395|140967395	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.379000|0.379000	0.30106|0.30106	6.681000|6.681000	0.74523|0.74523	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.602	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	Missense_Mutation
ZNF596	169270	hgsc.bcm.edu	37	8	195559	195559	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:195559C>A	ENST00000398612.1	+	6	1095	c.712C>A	c.(712-714)Ctt>Att	p.L238I	ZNF596_ENST00000320552.2_Missense_Mutation_p.L168I|ZNF596_ENST00000308811.4_Missense_Mutation_p.L238I	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L238I(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TTGCTCTGATCTTCGAAAACA	0.413																																					p.L238I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C712A	8						.						73.0	71.0	71.0					8																	195559		2203	4300	6503	185559	SO:0001583	missense	169270	exon6			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.712C>A	8.37:g.195559C>A	ENSP00000381613:p.Leu238Ile	Somatic		Capture	SOLID	Phase_I	185559	NM_001042416	B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	14.98	2.697096	0.48202	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.53857	0.6;0.6;0.6	2.63	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72787	0.3504	M	0.91090	3.175	0.09310	N	1	P	0.50819	0.939	D	0.63192	0.912	T	0.60464	-0.7258	9	0.72032	D	0.01	.	7.8436	0.29412	0.0:0.8672:0.0:0.1328	.	238	Q8TC21	ZN596_HUMAN	I	238;168;238	ENSP00000310033:L238I;ENSP00000318719:L168I;ENSP00000381613:L238I	ENSP00000310033:L238I	L	+	1	0	ZNF596	185559	0.349000	0.24870	0.030000	0.17652	0.983000	0.72400	1.385000	0.34408	0.680000	0.31366	0.591000	0.81541	CTT		0.413	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539	
SGCZ	137868	hgsc.bcm.edu	37	8	14412341	14412341	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:14412341C>T	ENST00000382080.1	-	2	849	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	SGCZ_ENST00000421524.2_Missense_Mutation_p.R32Q	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	32					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.R45Q(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GCACCTCTTTCGCCATCCATA	0.393																																					p.R45Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G134A	8						.						229.0	216.0	220.0					8																	14412341		2203	4300	6503	14456712	SO:0001583	missense	137868	exon2			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.134G>A	8.37:g.14412341C>T	ENSP00000371512:p.Arg45Gln	Somatic		Capture	SOLID	Phase_I	14456712	NM_139167	Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499111	0.85069	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;D	0.95724	-3.79;-3.79	5.39	5.39	0.77823	.	0.118074	0.56097	D	0.000033	D	0.94820	0.8327	M	0.75447	2.3	0.80722	D	1	P;P	0.43750	0.816;0.78	B;B	0.38428	0.273;0.243	D	0.95580	0.8645	10	0.87932	D	0	.	18.5343	0.91004	0.0:1.0:0.0:0.0	.	32;45	Q08AT0;Q96LD1-2	.;.	Q	45;32	ENSP00000371512:R45Q;ENSP00000405224:R32Q	ENSP00000371512:R45Q	R	-	2	0	SGCZ	14456712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.708000	0.92522	0.650000	0.86243	CGA		0.393	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167	
BMP1	649	hgsc.bcm.edu	37	8	22031158	22031158	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:22031158G>A	ENST00000306385.5	+	2	862	c.192G>A	c.(190-192)agG>agA	p.R64R	BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000306349.8_Silent_p.R64R|BMP1_ENST00000397816.3_Silent_p.R64R|BMP1_ENST00000354870.5_Silent_p.R64R|BMP1_ENST00000397814.3_Silent_p.R64R	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	64					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGACCTGAGGGCCTTCCAGG	0.567																																					p.R64R												.	.	0			c.G192A	8						.						133.0	104.0	113.0					8																	22031158		2203	4300	6503	22087103	SO:0001819	synonymous_variant	649	exon2				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.192G>A	8.37:g.22031158G>A		Somatic		Capture	SOLID	Phase_I	22087103	NM_006129	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	CCDS6026.1																																																																																				0.567	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132	
BMP1	649	hgsc.bcm.edu	37	8	22035451	22035451	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:22035451G>A	ENST00000306385.5	+	6	1487	c.817G>A	c.(817-819)Gct>Act	p.A273T	BMP1_ENST00000306349.8_Missense_Mutation_p.A273T|BMP1_ENST00000397816.3_Missense_Mutation_p.A273T|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.A273T	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	273	Metalloprotease.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.A273T(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CATGCATTACGCTCGGAACAC	0.597																																					p.A273T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G817A	8						.						194.0	172.0	179.0					8																	22035451		2203	4300	6503	22091396	SO:0001583	missense	649	exon6				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.817G>A	8.37:g.22035451G>A	ENSP00000305714:p.Ala273Thr	Somatic		Capture	SOLID	Phase_I	22091396	NM_006129	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824466	0.71143	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.12	5.12	0.69794	Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.38326	U	0.001736	T	0.76800	0.4038	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.87578	0.893;0.998;0.989;0.994	T	0.78481	-0.2187	10	0.59425	D	0.04	.	16.045	0.80714	0.0:0.0:1.0:0.0	.	273;346;273;273	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	T	273	ENSP00000305714:A273T;ENSP00000380917:A273T;ENSP00000306121:A273T;ENSP00000380915:A273T	ENSP00000306121:A273T	A	+	1	0	BMP1	22091396	1.000000	0.71417	0.992000	0.48379	0.065000	0.16274	9.864000	0.99589	2.382000	0.81193	0.484000	0.47621	GCT		0.597	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132	
PIWIL2	55124	hgsc.bcm.edu	37	8	22165530	22165530	+	Missense_Mutation	SNP	G	G	A	rs148701356		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:22165530G>A	ENST00000454009.2	+	14	2139	c.1630G>A	c.(1630-1632)Gca>Aca	p.A544T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.A544T|PIWIL2_ENST00000356766.6_Missense_Mutation_p.A544T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	544					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.A544T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AAAGAACGAGGCAGCCACCAA	0.443																																					p.A544T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1630A	8						.	G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	58.0	52.0	54.0		1630,1630	-1.2	0.2	8	dbSNP_134	54	0,8600		0,0,4300	no	missense,missense	PIWIL2	NM_001135721.1,NM_018068.3	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	544/974,544/974	22165530	1,13005	2203	4300	6503	22221475	SO:0001583	missense	55124	exon14			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1630G>A	8.37:g.22165530G>A	ENSP00000406956:p.Ala544Thr	Somatic		Capture	SOLID	Phase_I	22221475	NM_018068	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	3.020	-0.202047	0.06219	2.27E-4	0.0	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.13657	2.57;2.57;2.57	5.99	-1.22	0.09494	Ribonuclease H-like (1);	0.733995	0.14120	N	0.340098	T	0.04497	0.0123	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43637	-0.9379	10	0.18710	T	0.47	0.3092	11.2628	0.49093	0.4409:0.0:0.5591:0.0	.	544;544	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	544	ENSP00000349208:A544T;ENSP00000428267:A544T;ENSP00000406956:A544T	ENSP00000349208:A544T	A	+	1	0	PIWIL2	22221475	0.495000	0.26051	0.206000	0.23566	0.011000	0.07611	0.909000	0.28558	-0.111000	0.12001	-1.121000	0.02013	GCA		0.443	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
PIWIL2	55124	hgsc.bcm.edu	37	8	22173775	22173775	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:22173775C>T	ENST00000454009.2	+	19	2735	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	PIWIL2_ENST00000521356.1_Silent_p.I742I|PIWIL2_ENST00000356766.6_Silent_p.I742I	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	742	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.I742I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TAATGGTGATCGGGATGGATG	0.438																																					p.I742I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2226T	8						.						126.0	111.0	116.0					8																	22173775		2203	4300	6503	22229720	SO:0001819	synonymous_variant	55124	exon19			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2226C>T	8.37:g.22173775C>T		Somatic		Capture	SOLID	Phase_I	22229720	NM_018068	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	ENST00000454009.2	37	CCDS6029.1																																																																																				0.438	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
CCAR2	57805	hgsc.bcm.edu	37	8	22473035	22473035	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:22473035A>C	ENST00000308511.4	+	12	1552	c.1303A>C	c.(1303-1305)Act>Cct	p.T435P	CCAR2_ENST00000520861.1_Missense_Mutation_p.T110P|CCAR2_ENST00000389279.3_Missense_Mutation_p.T435P|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	435					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)	p.T435P(1)									CATCATGCCTACTTTGGAGGA	0.637																																					p.T435P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1303C	8						.						82.0	92.0	89.0					8																	22473035		2203	4300	6503	22528980	SO:0001583	missense	57805	exon12			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1303A>C	8.37:g.22473035A>C	ENSP00000310670:p.Thr435Pro	Somatic		Capture	SOLID	Phase_I	22528980	NM_021174	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.838185	0.71373	.	.	ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861;ENST00000522599	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.39	4.18	0.49190	.	0.148240	0.46145	D	0.000305	T	0.53351	0.1791	L	0.39898	1.24	0.38794	D	0.955054	B;D	0.62365	0.082;0.991	B;P	0.62089	0.087;0.898	T	0.57271	-0.7840	10	0.59425	D	0.04	-19.3693	9.8222	0.40889	0.8371:0.0:0.0:0.1629	.	110;435	G3V119;Q8N163	.;K1967_HUMAN	P	435;435;110;253	ENSP00000310670:T435P;ENSP00000373930:T435P;ENSP00000429773:T110P;ENSP00000429739:T253P	ENSP00000310670:T435P	T	+	1	0	KIAA1967	22528980	0.896000	0.30565	0.864000	0.33941	0.996000	0.88848	1.783000	0.38664	2.263000	0.75096	0.533000	0.62120	ACT		0.637	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174	
DOCK5	80005	hgsc.bcm.edu	37	8	25101246	25101246	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:25101246A>G	ENST00000276440.7	+	2	144	c.100A>G	c.(100-102)Aca>Gca	p.T34A	DOCK5_ENST00000481100.1_Missense_Mutation_p.T34A|DOCK5_ENST00000410074.1_Missense_Mutation_p.T34A	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	34	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.T34A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GATCGGTGACACAGTTCACAT	0.428																																					p.T34A	Pancreas(145;34 1887 3271 10937 30165)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A100G	8						.						118.0	94.0	102.0					8																	25101246		2203	4300	6503	25157163	SO:0001583	missense	80005	exon2				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.100A>G	8.37:g.25101246A>G	ENSP00000276440:p.Thr34Ala	Somatic		Capture	SOLID	Phase_I	25157163	NM_024940	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797382	0.70567	.	.	ENSG00000147459	ENST00000410074;ENST00000481100;ENST00000276440	T;T;T	0.50001	0.76;0.76;0.76	6.16	4.99	0.66335	Src homology-3 domain (4);	0.272222	0.36932	N	0.002325	T	0.43722	0.1260	L	0.61387	1.9	0.42564	D	0.993155	B	0.06786	0.001	B	0.08055	0.003	T	0.30446	-0.9978	10	0.28530	T	0.3	.	10.6994	0.45918	0.8575:0.0:0.0:0.1424	.	34	Q9H7D0	DOCK5_HUMAN	A	34	ENSP00000387036:T34A;ENSP00000429737:T34A;ENSP00000276440:T34A	ENSP00000276440:T34A	T	+	1	0	DOCK5	25157163	1.000000	0.71417	0.994000	0.49952	0.931000	0.56810	4.540000	0.60664	1.117000	0.41842	0.528000	0.53228	ACA		0.428	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
CLU	1191	hgsc.bcm.edu	37	8	27468059	27468059	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:27468059C>T	ENST00000316403.10	-	2	435	c.30G>A	c.(28-30)ggG>ggA	p.G10G	CLU_ENST00000560366.1_Silent_p.G62G|CLU_ENST00000546343.1_Silent_p.G21G|CLU_ENST00000405140.3_Silent_p.G10G|CLU_ENST00000523500.1_Silent_p.G10G			P10909	CLUS_HUMAN	clusterin	10					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)	p.G62G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TCAGCAGCAGCCCCACAAACA	0.567																																					p.G21G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G63A	8						.						117.0	107.0	110.0					8																	27468059		2203	4300	6503	27523976	SO:0001819	synonymous_variant	1191	exon2			M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.30G>A	8.37:g.27468059C>T		Somatic		Capture	SOLID	Phase_I	27523976	NM_001171138	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Silent	SNP	ENST00000316403.10	37	CCDS47832.1																																																																																				0.567	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831	
SCARA3	51435	hgsc.bcm.edu	37	8	27509049	27509049	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:27509049G>A	ENST00000301904.3	+	3	151	c.131G>A	c.(130-132)cGc>cAc	p.R44H	SCARA3_ENST00000337221.4_Missense_Mutation_p.R44H	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	44					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)	p.R44H(1)		breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CGCTGCAGCCGCTGCCAGAAG	0.622																																					p.R44H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G131A	8						.						55.0	54.0	54.0					8																	27509049		2203	4300	6503	27564968	SO:0001583	missense	51435	exon3			AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.131G>A	8.37:g.27509049G>A	ENSP00000301904:p.Arg44His	Somatic		Capture	SOLID	Phase_I	27564968	NM_182826	Q9UM15|Q9UM16	Missense_Mutation	SNP	ENST00000301904.3	37	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870675	0.91587	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;D	0.92595	2.19;-3.07	5.94	5.94	0.96194	.	0.046963	0.85682	D	0.000000	D	0.93566	0.7946	L	0.29908	0.895	0.40212	D	0.977636	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.959	D	0.94379	0.7603	10	0.87932	D	0	-24.5666	17.8674	0.88799	0.0:0.0:1.0:0.0	.	44;44	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	H	44	ENSP00000337985:R44H;ENSP00000301904:R44H	ENSP00000301904:R44H	R	+	2	0	SCARA3	27564968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.782000	0.47758	2.820000	0.97059	0.650000	0.86243	CGC		0.622	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240	
FZD3	7976	hgsc.bcm.edu	37	8	28385385	28385385	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:28385385G>A	ENST00000240093.3	+	5	1586	c.1108G>A	c.(1108-1110)Gca>Aca	p.A370T	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.A370T	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	370					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A370T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CGATGTTGATGCATTGAGATA	0.433																																					p.A370T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1108A	8						.						140.0	138.0	139.0					8																	28385385		2203	4300	6503	28441304	SO:0001583	missense	7976	exon4			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1108G>A	8.37:g.28385385G>A	ENSP00000240093:p.Ala370Thr	Somatic		Capture	SOLID	Phase_I	28441304	NM_145866	A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714896	0.48622	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.82526	-1.62;-1.62	5.11	4.23	0.50019	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.82412	0.5031	M	0.68317	2.08	0.51233	D	0.999917	B	0.30889	0.299	B	0.34824	0.19	T	0.81512	-0.0899	10	0.54805	T	0.06	.	13.7714	0.63026	0.0:0.0:0.8451:0.1549	.	370	Q9NPG1	FZD3_HUMAN	T	370	ENSP00000437489:A370T;ENSP00000240093:A370T	ENSP00000240093:A370T	A	+	1	0	FZD3	28441304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.926000	0.63433	1.138000	0.42230	0.563000	0.77884	GCA		0.433	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
TEX15	56154	hgsc.bcm.edu	37	8	30704685	30704685	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:30704685C>T	ENST00000256246.2	-	1	1923	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	617					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.D617N(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGGTGATCGTCATTATTTAGG	0.373																																					p.D617N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1849A	8						.						102.0	96.0	98.0					8																	30704685		2203	4300	6503	30824227	SO:0001583	missense	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1849G>A	8.37:g.30704685C>T	ENSP00000256246:p.Asp617Asn	Somatic		Capture	SOLID	Phase_I	30824227	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747932	0.30955	.	.	ENSG00000133863	ENST00000256246	T	0.10477	2.87	5.47	3.53	0.40419	.	0.676219	0.13651	N	0.372316	T	0.07279	0.0184	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.21546	0.035	T	0.26916	-1.0089	10	0.87932	D	0	.	8.5886	0.33672	0.1728:0.6603:0.1669:0.0	.	617	Q9BXT5	TEX15_HUMAN	N	617	ENSP00000256246:D617N	ENSP00000256246:D617N	D	-	1	0	TEX15	30824227	0.000000	0.05858	0.030000	0.17652	0.011000	0.07611	0.911000	0.28584	1.418000	0.47098	0.655000	0.94253	GAC		0.373	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TTI2	80185	hgsc.bcm.edu	37	8	33369538	33369538	+	Silent	SNP	A	A	G	rs527471338		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:33369538A>G	ENST00000431156.2	-	2	1212	c.594T>C	c.(592-594)gaT>gaC	p.D198D	SNORD13_ENST00000459299.1_RNA|TTI2_ENST00000519356.1_5'Flank|TTI2_ENST00000360742.5_Silent_p.D198D|TTI2_ENST00000520636.1_Silent_p.D198D	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	198								p.D198D(1)									TCCCTTTCTCATCTTCATTTT	0.488																																					p.D198D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T594C	8						.						188.0	193.0	191.0					8																	33369538		2203	4300	6503	33489080	SO:0001819	synonymous_variant	80185	exon1			AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.594T>C	8.37:g.33369538A>G		Somatic		Capture	SOLID	Phase_I	33489080	NM_025115	D3DSV7|Q96IM2|Q9H5N4	Silent	SNP	ENST00000431156.2	37	CCDS6090.1																																																																																				0.488	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115	
RAB11FIP1	80223	hgsc.bcm.edu	37	8	37732320	37732320	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:37732320A>G	ENST00000330843.4	-	3	1347	c.1335T>C	c.(1333-1335)gaT>gaC	p.D445D	RAB11FIP1_ENST00000522727.1_Silent_p.D297D|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000524118.1_Silent_p.D297D|RAB11FIP1_ENST00000287263.4_Silent_p.D445D	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	445					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.D445D(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCTTAGCCACATCCTTCTTCC	0.587																																					p.D445D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1335C	8						.						156.0	146.0	149.0					8																	37732320		2203	4300	6503	37851478	SO:0001819	synonymous_variant	80223	exon3			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1335T>C	8.37:g.37732320A>G		Somatic		Capture	SOLID	Phase_I	37851478	NM_025151	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	CCDS34882.1																																																																																				0.587	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151	
ADRB3	155	hgsc.bcm.edu	37	8	37822938	37822938	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:37822938C>T	ENST00000345060.3	-	1	1545	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P	ADRB3_ENST00000520341.1_5'UTR	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	350					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|aging (GO:0007568)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|diet induced thermogenesis (GO:0002024)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|generation of precursor metabolites and energy (GO:0006091)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of MAPK cascade (GO:0043410)|response to antibiotic (GO:0046677)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta-adrenergic receptor activity (GO:0004939)|beta3-adrenergic receptor activity (GO:0015052)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|protein homodimerization activity (GO:0042803)	p.P350P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Bethanidine(DB00217)|Bopindolol(DB08807)|Bupranolol(DB08808)|Clenbuterol(DB01407)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Isoprenaline(DB01064)|Mephentermine(DB01365)|Mirabegron(DB08893)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Propranolol(DB00571)|Trimipramine(DB00726)	TGCGAAAGTCCGGGCTGCGGC	0.706																																					p.P350P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1050A	8						.						12.0	10.0	11.0					8																	37822938		1998	3885	5883	37942095	SO:0001819	synonymous_variant	155	exon1			AY487247	CCDS6099.1	8p12	2012-08-08	2012-05-09			ENSG00000188778		"""GPCR / Class A : Adrenoceptors : beta"""	288	protein-coding gene	gene with protein product		109691	"""adrenergic, beta-3-, receptor"""			7898940, 15123695	Standard	NM_000025		Approved		uc003xkr.2	P13945		ENST00000345060.3:c.1050G>A	8.37:g.37822938C>T		Somatic		Capture	SOLID	Phase_I	37942095	NM_000025	Q4JFT4	Silent	SNP	ENST00000345060.3	37	CCDS6099.1																																																																																				0.706	ADRB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376826.1	NM_000025	
ZMAT4	79698	hgsc.bcm.edu	37	8	40683148	40683148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:40683148G>T	ENST00000297737.6	-	2	194	c.48C>A	c.(46-48)tgC>tgA	p.C16*	ZMAT4_ENST00000315769.7_Nonsense_Mutation_p.C16*|ZMAT4_ENST00000523823.1_5'UTR	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	16						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C16*(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TGCACACCTTGCAGTAACTGT	0.468																																					p.C16X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C48A	8						.						57.0	47.0	51.0					8																	40683148		2187	4263	6450	40802305	SO:0001587	stop_gained	79698	exon2			AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.48C>A	8.37:g.40683148G>T	ENSP00000297737:p.Cys16*	Somatic		Capture	SOLID	Phase_I	40802305	NM_024645	Q8WUT8	Nonsense_Mutation	SNP	ENST00000297737.6	37	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	G	37	6.087809	0.97271	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.9214	14.9923	0.71399	0.0:0.0:1.0:0.0	.	.	.	.	X	16	.	ENSP00000297737:C16X	C	-	3	2	ZMAT4	40802305	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.316000	0.65815	2.692000	0.91855	0.591000	0.81541	TGC		0.468	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645	
ANK1	286	hgsc.bcm.edu	37	8	41591495	41591495	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:41591495T>C	ENST00000347528.4	-	3	305	c.222A>G	c.(220-222)acA>acG	p.T74T	ANK1_ENST00000289734.7_Silent_p.T74T|ANK1_ENST00000396945.1_Silent_p.T74T|ANK1_ENST00000379758.2_Silent_p.T74T|ANK1_ENST00000265709.8_Silent_p.T107T|ANK1_ENST00000396942.1_Silent_p.T74T|ANK1_ENST00000352337.4_Silent_p.T74T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	74	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T74T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATACCTTGGTTGTCGTTTCTA	0.438																																					p.T74T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A222G	8						.						167.0	147.0	154.0					8																	41591495		2203	4300	6503	41710652	SO:0001819	synonymous_variant	286	exon3			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.222A>G	8.37:g.41591495T>C		Somatic		Capture	SOLID	Phase_I	41710652	NM_020475	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1																																																																																				0.438	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
SLC20A2	6575	hgsc.bcm.edu	37	8	42294804	42294804	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:42294804G>A	ENST00000342228.3	-	8	1595	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	SLC20A2_ENST00000520179.1_Missense_Mutation_p.A409V|SLC20A2_ENST00000520262.1_Missense_Mutation_p.A409V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	409					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)	p.A409V(1)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTCCTCTGGGGCCGATGAGTC	0.602																																					p.A409V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1226T	8						.						71.0	66.0	67.0					8																	42294804		2203	4300	6503	42413961	SO:0001583	missense	6575	exon8				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1226C>T	8.37:g.42294804G>A	ENSP00000340465:p.Ala409Val	Somatic		Capture	SOLID	Phase_I	42413961	NM_006749		Missense_Mutation	SNP	ENST00000342228.3	37	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561867	0.27915	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.90563	-2.69;-2.69;-2.69	5.74	4.86	0.63082	.	0.718286	0.13527	N	0.381216	D	0.85057	0.5610	N	0.25890	0.77	0.19945	N	0.999942	B	0.23540	0.087	B	0.32928	0.155	T	0.74022	-0.3798	10	0.30078	T	0.28	-23.4308	8.9765	0.35939	0.1676:0.0:0.8324:0.0	.	409	Q08357	S20A2_HUMAN	V	409	ENSP00000340465:A409V;ENSP00000429754:A409V;ENSP00000429712:A409V	ENSP00000340465:A409V	A	-	2	0	SLC20A2	42413961	1.000000	0.71417	0.160000	0.22671	0.005000	0.04900	6.865000	0.75500	1.425000	0.47237	-0.150000	0.13652	GCC		0.602	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1		
MCM4	4173	hgsc.bcm.edu	37	8	48887445	48887445	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:48887445G>A	ENST00000262105.2	+	14	2497	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	MCM4_ENST00000523944.1_Missense_Mutation_p.R763H	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	763					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.R763H(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GAGGCCAAACGCCTCCATCGG	0.468																																					p.R763H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2288A	8						.						129.0	137.0	134.0					8																	48887445		2203	4300	6503	49049998	SO:0001583	missense	4173	exon15				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2288G>A	8.37:g.48887445G>A	ENSP00000262105:p.Arg763His	Somatic		Capture	SOLID	Phase_I	49049998	NM_182746	Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050867	0.93740	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000518382;ENST00000524276;ENST00000521261	T;T	0.12569	2.67;2.67	5.77	3.97	0.46021	.	0.112135	0.64402	N	0.000004	T	0.46210	0.1381	M	0.93594	3.435	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.60591	-0.7233	10	0.87932	D	0	-9.7162	12.8987	0.58113	0.1342:0.0:0.8658:0.0	.	763;763	B3KMX0;P33991	.;MCM4_HUMAN	H	763;763;750;723;38;47;47	ENSP00000430194:R763H;ENSP00000262105:R763H	ENSP00000262105:R763H	R	+	2	0	MCM4	49049998	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	7.578000	0.82498	1.442000	0.47568	0.557000	0.71058	CGC		0.468	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914	
RB1CC1	9821	hgsc.bcm.edu	37	8	53588972	53588972	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:53588972T>G	ENST00000025008.5	-	6	1052	c.529A>C	c.(529-531)Aat>Cat	p.N177H	RB1CC1_ENST00000435644.2_Missense_Mutation_p.N177H|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.N177H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	177					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.N177H(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TGCAGATAATTTGAATAAATA	0.338																																					p.N177H	GBM(180;1701 2102 13475 42023 52570)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A529C	8						.						69.0	72.0	71.0					8																	53588972		2203	4300	6503	53751525	SO:0001583	missense	9821	exon6			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.529A>C	8.37:g.53588972T>G	ENSP00000025008:p.Asn177His	Somatic		Capture	SOLID	Phase_I	53751525	NM_001083617	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762590	0.49574	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.14893	2.47;2.47;2.47	5.58	4.17	0.49024	.	0.387488	0.28093	N	0.016631	T	0.17831	0.0428	L	0.47716	1.5	0.26547	N	0.97397	P;P	0.47253	0.892;0.828	B;B	0.44224	0.444;0.259	T	0.05273	-1.0895	10	0.45353	T	0.12	-10.4767	9.6258	0.39750	0.0:0.1034:0.0:0.8966	.	177;177	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	H	177	ENSP00000025008:N177H;ENSP00000396067:N177H;ENSP00000445960:N177H	ENSP00000025008:N177H	N	-	1	0	RB1CC1	53751525	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.999000	0.63934	0.717000	0.32145	0.528000	0.53228	AAT		0.338	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781	
TOX	9760	hgsc.bcm.edu	37	8	59728180	59728180	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:59728180T>C	ENST00000361421.1	-	7	1329	c.1109A>G	c.(1108-1110)tAc>tGc	p.Y370C	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	370						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y370C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGAACTTAGGTACAGGGCCGA	0.537																																					p.Y370C	Pancreas(161;610 1969 17913 21374 22725)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1109G	8						.						142.0	136.0	138.0					8																	59728180		2203	4300	6503	59890734	SO:0001583	missense	9760	exon7				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1109A>G	8.37:g.59728180T>C	ENSP00000354842:p.Tyr370Cys	Somatic		Capture	SOLID	Phase_I	59890734	NM_014729	Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.882659	0.72410	.	.	ENSG00000198846	ENST00000361421	T	0.13196	2.61	6.07	6.07	0.98685	.	0.190097	0.47455	D	0.000234	T	0.18759	0.0450	N	0.19112	0.55	0.58432	D	0.999996	D	0.61080	0.989	P	0.55965	0.788	T	0.04242	-1.0966	9	.	.	.	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	370	O94900	TOX_HUMAN	C	370	ENSP00000354842:Y370C	.	Y	-	2	0	TOX	59890734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.181000	0.77682	2.326000	0.78906	0.533000	0.62120	TAC		0.537	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729	
CNGB3	54714	hgsc.bcm.edu	37	8	87679295	87679295	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:87679295G>A	ENST00000320005.5	-	6	757	c.710C>T	c.(709-711)cCa>cTa	p.P237L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	237					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GAGGCGCAGTGGTATAAAACA	0.423																																					p.P237L												.	.	0			c.C710T	8						.						108.0	98.0	101.0					8																	87679295		2203	4300	6503	87748411	SO:0001583	missense	54714	exon6			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.710C>T	8.37:g.87679295G>A	ENSP00000316605:p.Pro237Leu	Somatic		Capture	SOLID	Phase_I	87748411	NM_019098	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074094	0.94000	.	.	ENSG00000170289	ENST00000320005	T	0.55760	0.5	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.76026	0.3930	M	0.86740	2.835	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.69824	0.966;0.926	T	0.74551	-0.3628	10	0.27785	T	0.31	.	19.4973	0.95079	0.0:0.0:1.0:0.0	.	237;237	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	L	237	ENSP00000316605:P237L	ENSP00000316605:P237L	P	-	2	0	CNGB3	87748411	1.000000	0.71417	0.890000	0.34922	0.747000	0.42532	9.799000	0.99117	2.608000	0.88229	0.655000	0.94253	CCA		0.423	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
SLC26A7	115111	hgsc.bcm.edu	37	8	92352744	92352744	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:92352744G>A	ENST00000276609.3	+	8	1230	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	SLC26A7_ENST00000309536.2_Missense_Mutation_p.A331T|SLC26A7_ENST00000523719.1_Missense_Mutation_p.A331T	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.A331T(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCAAGGATCTGCCAAAAAATT	0.507																																					p.A331T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G991A	8						.						101.0	92.0	95.0					8																	92352744		2203	4300	6503	92421920	SO:0001583	missense	115111	exon8			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.991G>A	8.37:g.92352744G>A	ENSP00000276609:p.Ala331Thr	Somatic		Capture	SOLID	Phase_I	92421920	NM_134266		Missense_Mutation	SNP	ENST00000276609.3	37	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	32	5.107259	0.94292	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.94862	-3.54;-3.54;-3.54	5.72	5.72	0.89469	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	M	0.87547	2.89	0.46376	D	0.999013	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97900	1.0302	10	0.87932	D	0	.	20.244	0.98389	0.0:0.0:1.0:0.0	.	331;331	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	T	331	ENSP00000428849:A331T;ENSP00000276609:A331T;ENSP00000309504:A331T	ENSP00000276609:A331T	A	+	1	0	SLC26A7	92421920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.302000	0.72788	2.865000	0.98341	0.655000	0.94253	GCC		0.507	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		
INTS8	55656	hgsc.bcm.edu	37	8	95848829	95848829	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:95848829A>T	ENST00000523731.1	+	7	964	c.831A>T	c.(829-831)aaA>aaT	p.K277N	INTS8_ENST00000447247.1_Missense_Mutation_p.K277N	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	277					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.K277N(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CCAGGGAAAAATTTTTTAGAA	0.348																																					p.K277N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A831T	8						.						70.0	73.0	72.0					8																	95848829		2203	4300	6503	95918005	SO:0001583	missense	55656	exon7			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.831A>T	8.37:g.95848829A>T	ENSP00000430338:p.Lys277Asn	Somatic		Capture	SOLID	Phase_I	95918005	NM_017864	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.517|7.517	0.655970|0.655970	0.14580|0.14580	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.76|5.76	-2.93|-2.93	0.05598|0.05598	Tetratricopeptide-like helical (1);|.	0.097562|.	0.64402|.	D|.	0.000001|.	T|T	0.37999|0.37999	0.1024|0.1024	N|N	0.22421|0.22421	0.69|0.69	0.35384|0.35384	D|D	0.790201|0.790201	B;P|.	0.36535|.	0.11;0.557|.	B;B|.	0.34242|.	0.04;0.178|.	T|T	0.38286|0.38286	-0.9668|-0.9668	9|5	0.39692|.	T|.	0.17|.	-24.1555|-24.1555	10.0847|10.0847	0.42410|0.42410	0.3374:0.0:0.5503:0.1123|0.3374:0.0:0.5503:0.1123	.|.	277;277|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	N|I	277|99	.|.	ENSP00000343274:K277N|.	K|N	+|+	3|2	2|0	INTS8|INTS8	95918005|95918005	0.475000|0.475000	0.25894|0.25894	0.966000|0.966000	0.40874|0.40874	0.994000|0.994000	0.84299|0.84299	-0.114000|-0.114000	0.10757|0.10757	-0.792000|-0.792000	0.04480|0.04480	0.397000|0.397000	0.26171|0.26171	AAA|AAT		0.348	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864	
NIPAL2	79815	hgsc.bcm.edu	37	8	99217367	99217367	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:99217367T>C	ENST00000341166.3	-	7	1018	c.763A>G	c.(763-765)Atg>Gtg	p.M255V	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Missense_Mutation_p.M255V	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	255						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.M255V(1)		cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						GATGCTATCATGATGATAAAC	0.378																																					p.M255V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A763G	8						.						101.0	97.0	98.0					8																	99217367		2203	4300	6503	99286543	SO:0001583	missense	79815	exon7			AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.763A>G	8.37:g.99217367T>C	ENSP00000339256:p.Met255Val	Somatic		Capture	SOLID	Phase_I	99286543	NM_024759	A2RTY8	Missense_Mutation	SNP	ENST00000341166.3	37	CCDS6278.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.684969	0.47991	.	.	ENSG00000104361	ENST00000430223;ENST00000341166	D;D	0.88975	-2.45;-2.45	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.86155	0.5865	L	0.54323	1.7	0.41539	D	0.9885	B;P	0.34462	0.045;0.454	B;B	0.38156	0.1;0.266	T	0.82872	-0.0242	10	0.19590	T	0.45	-17.04	12.4778	0.55825	0.0:0.0:0.0:1.0	.	255;255	A2RTY8;Q9H841	.;NPAL2_HUMAN	V	255	ENSP00000407087:M255V;ENSP00000339256:M255V	ENSP00000339256:M255V	M	-	1	0	NIPAL2	99286543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.620000	0.83070	1.673000	0.50895	0.379000	0.24179	ATG		0.378	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1	NM_024759	
DENND3	22898	hgsc.bcm.edu	37	8	142148180	142148180	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr8:142148180G>A	ENST00000262585.2	+	3	483	c.205G>A	c.(205-207)Gat>Aat	p.D69N	DENND3_ENST00000519811.1_Missense_Mutation_p.D149N|DENND3_ENST00000424248.1_Missense_Mutation_p.D69N|DENND3_ENST00000518347.1_Missense_Mutation_p.D149N	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	69	UDENN.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D69N(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGCTGACCGATGTCTGCGG	0.552																																					p.D69N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G205A	8						.						135.0	97.0	110.0					8																	142148180		2203	4300	6503	142217362	SO:0001583	missense	22898	exon3			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.205G>A	8.37:g.142148180G>A	ENSP00000262585:p.Asp69Asn	Somatic		Capture	SOLID	Phase_I	142217362	NM_014957	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.228248|4.228248	0.79576|0.79576	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058|ENST00000518668	T;T;T;T;T;T;T|.	0.58358|.	0.34;0.34;0.34;0.34;0.34;0.34;0.34|.	5.19|5.19	4.32|4.32	0.51571|0.51571	uDENN (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71937|0.71937	0.3399|0.3399	M|M	0.72894|0.72894	2.215|2.215	0.43292|0.43292	D|D	0.99527|0.99527	D;D;D;D|.	0.89917|.	1.0;0.999;0.998;1.0|.	D;D;P;D|.	0.97110|.	1.0;0.992;0.798;0.987|.	T|T	0.72047|0.72047	-0.4408|-0.4408	10|5	0.62326|.	D|.	0.03|.	-10.9122|-10.9122	13.6449|13.6449	0.62275|0.62275	0.0753:0.0:0.9247:0.0|0.0753:0.0:0.9247:0.0	.|.	149;69;149;149|.	E9PF32;A2RUS2;E5RHH2;E5RIR7|.	.;DEND3_HUMAN;.;.|.	N|Q	82;149;69;69;149;149;149|125	ENSP00000430625:D82N;ENSP00000430695:D149N;ENSP00000262585:D69N;ENSP00000410594:D69N;ENSP00000428714:D149N;ENSP00000429780:D149N;ENSP00000430786:D149N|.	ENSP00000262585:D69N|.	D|R	+|+	1|2	0|0	DENND3|DENND3	142217362|142217362	1.000000|1.000000	0.71417|0.71417	0.102000|0.102000	0.21198|0.21198	0.851000|0.851000	0.48451|0.48451	5.667000|5.667000	0.68067|0.68067	1.167000|1.167000	0.42706|0.42706	0.585000|0.585000	0.79938|0.79938	GAT|CGA		0.552	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957	
TBL1Y	90665	hgsc.bcm.edu	37	Y	6954357	6954357	+	Silent	SNP	C	C	T	rs370410726		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrY:6954357C>T	ENST00000383032.1	+	16	1826	c.1179C>T	c.(1177-1179)tgC>tgT	p.C393C	TBL1Y_ENST00000355162.2_Silent_p.C393C|TBL1Y_ENST00000346432.3_Silent_p.C393C	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.C393C(2)		kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						AGGATGCATGCGTCCACGATC	0.542																																					p.C393C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1179T	Y						.	C	,,	0,571		0,571	54.0	56.0	55.0		1179,1179,1179	0.4	0.3	Y		55	4,1868		4,1868	no	coding-synonymous,coding-synonymous,coding-synonymous	TBL1Y	NM_033284.1,NM_134258.1,NM_134259.1	,,	4,2439	T,C		0.2137,0.0,0.1637	,,	393/523,393/523,393/523	6954357	4,2439	597	1930	2527	7014357	SO:0001819	synonymous_variant	90665	exon16			AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"""WD repeat domain containing"""	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.1179C>T	Y.37:g.6954357C>T		Somatic		Capture	SOLID	Phase_I	7014357	NM_033284	A1L4B3	Silent	SNP	ENST00000383032.1	37	CCDS14779.1																																																																																				0.542	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085360.1	NM_033284	
KDM5D	8284	hgsc.bcm.edu	37	Y	21903631	21903631	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrY:21903631C>T	ENST00000317961.4	-	4	612	c.341G>A	c.(340-342)aGc>aAc	p.S114N	KDM5D_ENST00000541639.1_Missense_Mutation_p.S114N|KDM5D_ENST00000382806.2_Missense_Mutation_p.S114N	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	114	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.S114N(2)		kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CTTACTAAGGCTGTAGAGGTC	0.398																																					p.S114N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G341A	Y						.						49.0	51.0	50.0					Y																	21903631		580	1907	2487	20363019	SO:0001583	missense	8284	exon4			U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.341G>A	Y.37:g.21903631C>T	ENSP00000322408:p.Ser114Asn	Somatic		Capture	SOLID	Phase_I	20363019	NM_004653	A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	CCDS14794.1																																																																																				0.398	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653	
KIF1B	23095	hgsc.bcm.edu	37	1	10386320	10386320	+	Missense_Mutation	SNP	G	G	A	rs142567076	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:10386320G>A	ENST00000377086.1	+	27	3029	c.2827G>A	c.(2827-2829)Gcc>Acc	p.A943T	KIF1B_ENST00000377081.1_Missense_Mutation_p.A943T|KIF1B_ENST00000263934.6_Missense_Mutation_p.A897T			O60333	KIF1B_HUMAN	kinesin family member 1B	943					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.A897T(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGTGGATGACGCCGGCTCTGA	0.547																																					p.A897T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2689A	1						.	G	THR/ALA	0,4406		0,0,2203	138.0	122.0	127.0		2689	3.2	1.0	1	dbSNP_134	127	4,8596	3.7+/-12.6	0,4,4296	yes	missense	KIF1B	NM_015074.3	58	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	897/1771	10386320	4,13002	2203	4300	6503	10308907	SO:0001583	missense	23095	exon25			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2827G>A	1.37:g.10386320G>A	ENSP00000366290:p.Ala943Thr	Somatic		Capture	SOLID	Phase_I	10308907	NM_015074	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	6.925	0.540275	0.13250	0.0	4.65E-4	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.71341	-0.49;-0.56;-0.56	5.6	3.16	0.36331	.	0.107337	0.64402	N	0.000005	T	0.31071	0.0785	N	0.00661	-1.28	0.27977	N	0.936175	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.36016	-0.9765	10	0.05436	T	0.98	.	8.6096	0.33795	0.8277:0.0:0.1723:0.0	.	929;903;943;917;943;897	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	T	943;897;943;943	ENSP00000263934:A897T;ENSP00000366290:A943T;ENSP00000366284:A943T	ENSP00000263934:A897T	A	+	1	0	KIF1B	10308907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.138000	0.58017	0.857000	0.35407	-0.355000	0.07637	GCC		0.547	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
MYBPHL	343263	hgsc.bcm.edu	37	1	109839808	109839808	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:109839808C>T	ENST00000357155.1	-	4	483	c.434G>A	c.(433-435)aGg>aAg	p.R145K	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	145										central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		AGGGCCTGGCCTCTCTGAAAG	0.557																																					p.R145K												.	.	0			c.G434A	1						.						104.0	105.0	105.0					1																	109839808		2203	4300	6503	109641331	SO:0001583	missense	343263	exon4			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.434G>A	1.37:g.109839808C>T	ENSP00000349678:p.Arg145Lys	Somatic		Capture	SOLID	Phase_I	109641331	NM_001010985	B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	2.371	-0.344438	0.05208	.	.	ENSG00000221986	ENST00000357155	T	0.39592	1.07	3.79	2.86	0.33363	Fibronectin, type III (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.25210	N	0.989984	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.43686	-0.9376	9	0.02654	T	1	.	5.4841	0.16739	0.0:0.7483:0.0:0.2517	.	122;145	B7ZME5;A2RUH7	.;MBPHL_HUMAN	K	145	ENSP00000349678:R145K	ENSP00000349678:R145K	R	-	2	0	MYBPHL	109641331	0.011000	0.17503	1.000000	0.80357	0.942000	0.58702	-0.162000	0.10012	1.169000	0.42739	0.561000	0.74099	AGG		0.557	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985	
MASP2	10747	hgsc.bcm.edu	37	1	11103024	11103024	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:11103024C>A	ENST00000400897.3	-	6	812	c.797G>T	c.(796-798)aGg>aTg	p.R266M		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	266	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.R266M(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TGTTTCAATCCTGTGGGGCAA	0.498																																					p.R266M	GBM(35;611 746 20780 22741 36496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G797T	1						.						212.0	185.0	194.0					1																	11103024		2203	4300	6503	11025611	SO:0001583	missense	10747	exon6			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.797G>T	1.37:g.11103024C>A	ENSP00000383690:p.Arg266Met	Somatic		Capture	SOLID	Phase_I	11025611	NM_006610	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	CCDS123.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975153	0.34848	.	.	ENSG00000009724	ENST00000400897	T	0.18810	2.19	4.36	2.43	0.29744	CUB (5);	0.382752	0.26143	N	0.026095	T	0.28797	0.0714	L	0.60904	1.88	0.09310	N	0.999996	P	0.42620	0.785	P	0.51516	0.672	T	0.03545	-1.1026	10	0.38643	T	0.18	.	8.1297	0.31020	0.0:0.6896:0.0:0.3104	.	266	O00187	MASP2_HUMAN	M	266	ENSP00000383690:R266M	ENSP00000383690:R266M	R	-	2	0	MASP2	11025611	0.000000	0.05858	0.130000	0.21974	0.458000	0.32498	-0.019000	0.12546	0.966000	0.38159	0.467000	0.42956	AGG		0.498	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610	
AMPD2	271	hgsc.bcm.edu	37	1	110168351	110168351	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:110168351G>A	ENST00000256578.3	+	3	812	c.452G>A	c.(451-453)aGc>aAc	p.S151N	AMPD2_ENST00000358729.4_Missense_Mutation_p.S76N|AMPD2_ENST00000528667.1_Missense_Mutation_p.S151N|AMPD2_ENST00000393688.3_Missense_Mutation_p.S32N|AMPD2_ENST00000528454.1_Missense_Mutation_p.S33N|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.S70N|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	151					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.S151N(1)|p.S70N(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCGAGGAGAGCCCCATTGAA	0.642																																					p.S151N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G452A	1						.						44.0	53.0	50.0					1																	110168351		2203	4300	6503	109969874	SO:0001583	missense	271	exon3			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.452G>A	1.37:g.110168351G>A	ENSP00000256578:p.Ser151Asn	Somatic		Capture	SOLID	Phase_I	109969874	NM_004037	B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715190	0.89112	.	.	ENSG00000116337	ENST00000531734;ENST00000342115;ENST00000528667;ENST00000531203;ENST00000256578;ENST00000358729;ENST00000527846;ENST00000528454;ENST00000393688	D;D;D;T;T;D	0.85773	-1.99;-2.03;-2.03;1.27;1.27;-1.99	4.84	4.84	0.62591	.	0.084638	0.85682	D	0.000000	D	0.85097	0.5619	L	0.57536	1.79	0.42109	D	0.991375	D;D;D;D	0.54964	0.969;0.957;0.963;0.957	P;P;P;P	0.51701	0.611;0.677;0.527;0.578	D	0.85860	0.1409	10	0.51188	T	0.08	-33.4608	17.7387	0.88402	0.0:0.0:1.0:0.0	.	76;32;151;70	Q01433-4;Q01433-3;Q01433;Q01433-2	.;.;AMPD2_HUMAN;.	N	70;70;151;33;151;76;118;33;32	ENSP00000345498:S70N;ENSP00000436541:S151N;ENSP00000256578:S151N;ENSP00000351573:S76N;ENSP00000437164:S33N;ENSP00000377292:S32N	ENSP00000256578:S151N	S	+	2	0	AMPD2	109969874	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.298000	0.78815	2.506000	0.84524	0.462000	0.41574	AGC		0.642	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1		
PIFO	128344	hgsc.bcm.edu	37	1	111890359	111890359	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:111890359G>A	ENST00000369738.4	+	3	588	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Intron	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	75					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)	p.A75T(1)									TACTTTGGGAGCCAGAACAGC	0.413																																					p.A75T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G223A	1						.						128.0	122.0	124.0					1																	111890359		2203	4300	6503	111691882	SO:0001583	missense	128344	exon3			BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"""chromosome 1 open reading frame 88"""	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.223G>A	1.37:g.111890359G>A	ENSP00000358753:p.Ala75Thr	Somatic		Capture	SOLID	Phase_I	111691882	NM_181643	D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	ENST00000369738.4	37	CCDS833.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112765	0.77210	.	.	ENSG00000173947	ENST00000369738	T	0.23754	1.89	5.83	3.75	0.43078	.	0.086426	0.49916	D	0.000128	T	0.42108	0.1188	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49808	-0.8900	10	0.87932	D	0	-9.855	12.2611	0.54651	0.0:0.0:0.6802:0.3198	.	75	Q8TCI5	PIFO_HUMAN	T	75	ENSP00000358753:A75T	ENSP00000358753:A75T	A	+	1	0	C1orf88	111691882	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.399000	0.52586	1.450000	0.47717	0.561000	0.74099	GCC		0.413	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030718.1	NM_181643	
DCLRE1B	64858	hgsc.bcm.edu	37	1	114454135	114454135	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:114454135G>T	ENST00000369563.3	+	4	1367	c.921G>T	c.(919-921)caG>caT	p.Q307H	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	307					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)	p.Q307H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGCTTTCAGGACAGTCTGA	0.552								Other identified genes with known or suspected DNA repair function																													p.Q307H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G921T	1						.						61.0	63.0	62.0					1																	114454135		2203	4300	6503	114255658	SO:0001583	missense	64858	exon4			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.921G>T	1.37:g.114454135G>T	ENSP00000358576:p.Gln307His	Somatic		Capture	SOLID	Phase_I	114255658	NM_022836	Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714647	0.48622	.	.	ENSG00000118655	ENST00000369563	T	0.75938	-0.98	6.17	3.36	0.38483	.	0.784241	0.12465	N	0.466565	T	0.61515	0.2353	L	0.54323	1.7	0.37763	D	0.926392	P	0.43169	0.8	B	0.43916	0.436	T	0.59231	-0.7493	10	0.49607	T	0.09	-9.4501	11.4383	0.50081	0.1918:0.0:0.8082:0.0	.	307	Q9H816	DCR1B_HUMAN	H	307	ENSP00000358576:Q307H	ENSP00000358576:Q307H	Q	+	3	2	DCLRE1B	114255658	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	1.960000	0.40422	0.509000	0.28195	-0.136000	0.14681	CAG		0.552	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836	
DENND2C	163259	hgsc.bcm.edu	37	1	115161064	115161064	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:115161064C>A	ENST00000393274.1	-	8	1892	c.1267G>T	c.(1267-1269)Ggg>Tgg	p.G423W	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.G366W|DENND2C_ENST00000393277.1_Missense_Mutation_p.G423W	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	423					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.G366W(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTTCTTCCCTCTTTTAGAT	0.348																																					p.G366W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1096T	1						.						124.0	112.0	116.0					1																	115161064		2202	4298	6500	114962587	SO:0001583	missense	163259	exon5				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1267G>T	1.37:g.115161064C>A	ENSP00000376955:p.Gly423Trp	Somatic		Capture	SOLID	Phase_I	114962587	NM_198459	B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981213	0.74474	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.21191	3.63;2.81;2.02	5.67	4.75	0.60458	.	0.248527	0.35585	N	0.003101	T	0.37999	0.1024	M	0.79805	2.47	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.42766	-0.9432	10	0.87932	D	0	.	12.6657	0.56842	0.0:0.9237:0.0:0.0763	.	423;366	Q68D51;Q68D51-3	DEN2C_HUMAN;.	W	366;423;423;423	ENSP00000376957:G366W;ENSP00000376955:G423W;ENSP00000376958:G423W	ENSP00000358553:G423W	G	-	1	0	DENND2C	114962587	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.699000	0.68310	1.395000	0.46643	0.591000	0.81541	GGG		0.348	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459	
VANGL1	81839	hgsc.bcm.edu	37	1	116206395	116206395	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:116206395T>A	ENST00000355485.2	+	4	589	c.318T>A	c.(316-318)gaT>gaA	p.D106E	VANGL1_ENST00000369510.4_Missense_Mutation_p.D104E|VANGL1_ENST00000369509.1_Missense_Mutation_p.D106E|VANGL1_ENST00000310260.3_Missense_Mutation_p.D106E	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	106					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)		p.D106E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGGGGCTGGATTGCAAACGCT	0.562																																					p.D104E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T312A	1						.						178.0	159.0	166.0					1																	116206395		2203	4300	6503	116007918	SO:0001583	missense	81839	exon4			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.318T>A	1.37:g.116206395T>A	ENSP00000347672:p.Asp106Glu	Somatic		Capture	SOLID	Phase_I	116007918	NM_001172411	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	CCDS883.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.664389	0.29604	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	4.92	-3.11	0.05299	.	0.163505	0.53938	D	0.000043	T	0.43166	0.1235	L	0.31578	0.945	0.41093	D	0.98561	B;B	0.23185	0.066;0.081	B;B	0.27076	0.046;0.076	T	0.48456	-0.9034	10	0.02654	T	1	-10.4012	11.5089	0.50483	0.0:0.4991:0.0:0.5009	.	104;106	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	E	106;104;106;106	ENSP00000347672:D106E;ENSP00000358523:D104E;ENSP00000310800:D106E;ENSP00000358522:D106E	ENSP00000310800:D106E	D	+	3	2	VANGL1	116007918	0.212000	0.23540	0.969000	0.41365	0.777000	0.43975	-0.382000	0.07408	-0.442000	0.07190	0.528000	0.53228	GAT		0.562	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1		
MIIP	60672	hgsc.bcm.edu	37	1	12089316	12089316	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:12089316C>T	ENST00000235332.4	+	6	862	c.693C>T	c.(691-693)agC>agT	p.S231S	MIIP_ENST00000436478.2_Silent_p.S231S|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	231								p.S231S(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCAGTGGCAGCGGCGTGGAGG	0.706																																					p.S231S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C693T	1						.						24.0	29.0	27.0					1																	12089316		2203	4300	6503	12011903	SO:0001819	synonymous_variant	60672	exon6			AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.693C>T	1.37:g.12089316C>T		Somatic		Capture	SOLID	Phase_I	12011903	NM_021933	C0KL22|Q96HU6|Q9H839|Q9HA00	Silent	SNP	ENST00000235332.4	37	CCDS143.1																																																																																				0.706	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933	
DHRS3	9249	hgsc.bcm.edu	37	1	12632769	12632769	+	Missense_Mutation	SNP	C	C	T	rs202124062		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:12632769C>T	ENST00000376223.2	-	5	1194	c.811G>A	c.(811-813)Gtt>Att	p.V271I	RNU6ATAC18P_ENST00000408413.1_RNA	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	271					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)	p.V271I(1)		cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	ttcaagataacgAGGGCATGC	0.567																																					p.V271I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G811A	1						.						61.0	49.0	53.0					1																	12632769		2202	4300	6502	12555356	SO:0001583	missense	9249	exon5			AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.811G>A	1.37:g.12632769C>T	ENSP00000365397:p.Val271Ile	Somatic		Capture	SOLID	Phase_I	12555356	NM_004753	B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	ENST00000376223.2	37	CCDS146.1	.	.	.	.	.	.	.	.	.	.	C	4.690	0.128243	0.08981	.	.	ENSG00000162496	ENST00000376223	D	0.89485	-2.52	4.74	-6.33	0.01988	.	0.299441	0.35970	N	0.002880	T	0.80248	0.4588	L	0.35644	1.08	0.37076	D	0.898777	B	0.14438	0.01	B	0.06405	0.002	T	0.55866	-0.8073	10	0.20519	T	0.43	.	17.6533	0.88171	0.0:0.8263:0.0:0.1737	.	271	O75911	DHRS3_HUMAN	I	271	ENSP00000365397:V271I	ENSP00000365397:V271I	V	-	1	0	DHRS3	12555356	1.000000	0.71417	0.593000	0.28771	0.080000	0.17528	0.906000	0.28517	-0.975000	0.03546	-1.008000	0.02478	GTT		0.567	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753	
PRDM2	7799	hgsc.bcm.edu	37	1	14105372	14105372	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:14105372C>A	ENST00000235372.7	+	8	1938	c.1082C>A	c.(1081-1083)cCg>cAg	p.P361Q	PRDM2_ENST00000343137.4_Missense_Mutation_p.P160Q|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P160Q|PRDM2_ENST00000311066.5_Missense_Mutation_p.P361Q|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P361Q(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTTATGTTTCCGTGTCAACAT	0.423																																					p.P160Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C479A	1						.						126.0	117.0	120.0					1																	14105372		2203	4300	6503	13977959	SO:0001583	missense	7799	exon3			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1082C>A	1.37:g.14105372C>A	ENSP00000235372:p.Pro361Gln	Somatic		Capture	SOLID	Phase_I	13977959	NM_001007257	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614153	0.46631	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.67	4.75	0.60458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.055616	0.64402	D	0.000001	T	0.72503	0.3468	N	0.02334	-0.595	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	1.0;0.992;0.994;1.0	T	0.80284	-0.1447	10	0.59425	D	0.04	.	13.2712	0.60161	0.0:0.9232:0.0:0.0768	.	361;219;361;361	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	Q	361;361;361;160;160	ENSP00000235372:P361Q;ENSP00000312352:P361Q;ENSP00000411103:P160Q;ENSP00000341621:P160Q	ENSP00000235372:P361Q	P	+	2	0	PRDM2	13977959	1.000000	0.71417	0.870000	0.34147	0.767000	0.43475	7.487000	0.81328	1.386000	0.46466	0.561000	0.74099	CCG		0.423	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231	
TRIM45	80263	hgsc.bcm.edu	37	1	117661235	117661235	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:117661235C>T	ENST00000256649.4	-	2	1169	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	TRIM45_ENST00000369464.3_Missense_Mutation_p.V215M|TRIM45_ENST00000369461.3_Missense_Mutation_p.V158M	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	215					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.V215M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TCCCCCACCACACAATCCTGG	0.582																																					p.V215M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G643A	1						.						73.0	69.0	70.0					1																	117661235		2203	4300	6503	117462758	SO:0001583	missense	80263	exon2				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.643G>A	1.37:g.117661235C>T	ENSP00000256649:p.Val215Met	Somatic		Capture	SOLID	Phase_I	117462758	NM_001145635	Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004389	0.54254	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	T;T;T	0.46063	0.88;0.88;0.88	5.32	4.4	0.53042	Zinc finger, B-box (3);	0.064020	0.64402	D	0.000004	T	0.30008	0.0751	L	0.35593	1.075	0.41948	D	0.99064	P;P	0.44006	0.789;0.824	P;P	0.49451	0.477;0.611	T	0.11397	-1.0589	10	0.51188	T	0.08	-14.7944	13.5634	0.61804	0.0:0.9253:0.0:0.0747	.	215;215	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	M	215;215;158	ENSP00000256649:V215M;ENSP00000358476:V215M;ENSP00000358473:V158M	ENSP00000256649:V215M	V	-	1	0	TRIM45	117462758	0.960000	0.32886	0.975000	0.42487	0.270000	0.26580	2.228000	0.42981	1.473000	0.48159	0.655000	0.94253	GTG		0.582	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188	
PDE4DIP	9659	hgsc.bcm.edu	37	1	144917533	144917533	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:144917533C>T	ENST00000369354.3	-	12	1760	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R311H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R524H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R524H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R590H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R661H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R687H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R687H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R661H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R524H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	524					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.R687H(1)|p.R524H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGGACATCGCGCAGTCTCTC	0.458			T	PDGFRB	MPD																																p.R590H			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1769A	1						.						359.0	346.0	350.0					1																	144917533		2203	4296	6499	143628890	SO:0001583	missense	9659	exon15			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1571G>A	1.37:g.144917533C>T	ENSP00000358360:p.Arg524His	Somatic		Capture	SOLID	Phase_I	143628890	NM_001198832	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116185	0.37339	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.65178	4.49;4.59;4.59;4.6;4.6;3.59;3.59;2.41;2.42;-0.14	6.04	6.04	0.98038	.	.	.	.	.	T	0.68641	0.3023	M	0.61703	1.905	0.80722	D	1	P;P;D;P;P;D	0.89917	0.47;0.716;1.0;0.521;0.698;1.0	B;B;D;B;B;D	0.69824	0.045;0.142;0.966;0.068;0.148;0.964	T	0.69873	-0.5027	9	0.51188	T	0.08	.	11.4063	0.49900	0.0:0.9188:0.0:0.0812	.	687;311;524;687;590;524	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	H	590;524;524;687;661;661;524;524;687;687;311	ENSP00000327209:R590H;ENSP00000358360:R524H;ENSP00000358363:R524H;ENSP00000435654:R661H;ENSP00000358366:R661H;ENSP00000358357:R524H;ENSP00000358355:R524H;ENSP00000316434:R687H;ENSP00000433392:R687H;ENSP00000436791:R311H	ENSP00000327209:R590H	R	-	2	0	PDE4DIP	143628890	0.998000	0.40836	0.955000	0.39395	0.150000	0.21749	3.864000	0.56024	2.890000	0.99128	0.650000	0.86243	CGC		0.458	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
ACP6	51205	hgsc.bcm.edu	37	1	147126330	147126330	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:147126330C>T	ENST00000369238.6	-	6	1206	c.759G>A	c.(757-759)ctG>ctA	p.L253L	ACP6_ENST00000392988.2_Silent_p.L253L	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	253					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)	p.L253L(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					CCACGTTGTCCAGGAGGATGA	0.537																																					p.L253L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G759A	1						.						137.0	114.0	122.0					1																	147126330		2203	4300	6503	145592954	SO:0001819	synonymous_variant	51205	exon6			BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.759G>A	1.37:g.147126330C>T		Somatic		Capture	SOLID	Phase_I	145592954	NM_016361	Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Silent	SNP	ENST00000369238.6	37	CCDS928.1																																																																																				0.537	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361	
PRPF3	9129	hgsc.bcm.edu	37	1	150297483	150297483	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:150297483C>A	ENST00000324862.6	+	2	248	c.83C>A	c.(82-84)cCt>cAt	p.P28H	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.P28H	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	28	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.P28H(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TTCTCAGAGCCTACGGTGGTC	0.473																																					p.P28H	Ovarian(168;1070 2670 5178 20729)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C83A	1						.						147.0	138.0	141.0					1																	150297483		2203	4300	6503	148564107	SO:0001583	missense	9129	exon2			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.83C>A	1.37:g.150297483C>A	ENSP00000315379:p.Pro28His	Somatic		Capture	SOLID	Phase_I	148564107	NM_004698	B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	CCDS951.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845196	0.91197	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	T;T	0.42131	0.98;0.98	5.29	5.29	0.74685	Splicing factor PWI (4);	0.050811	0.85682	D	0.000000	T	0.49847	0.1581	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.65323	0.888;0.934;0.934	T	0.50980	-0.8763	10	0.66056	D	0.02	-6.2002	19.2997	0.94140	0.0:1.0:0.0:0.0	.	28;28;28	E7EVD1;B2R791;O43395	.;.;PRPF3_HUMAN	H	28	ENSP00000315379:P28H;ENSP00000387844:P28H	ENSP00000315379:P28H	P	+	2	0	PRPF3	148564107	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.547000	0.82146	2.627000	0.88993	0.655000	0.94253	CCT		0.473	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698	
PI4KB	5298	hgsc.bcm.edu	37	1	151262681	151262681	+	IGR	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:151262681C>T	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Silent_p.H1016H			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTAATCACGAGGGCATCA	0.577																																					p.H1016H	Colon(154;765 1838 9854 28443 37492)											.	.	0			c.C3048T	1						.						96.0	85.0	89.0					1																	151262681		2203	4300	6503	149529305	SO:0001628	intergenic_variant	57592	exon7			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262681C>T		Somatic		Capture	SOLID	Phase_I	149529305	NM_020832	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37		.	.	.	.	.	.	.	.	.	.	C	7.783	0.709861	0.15239	.	.	ENSG00000143373	ENST00000426871	.	.	.	5.15	-3.96	0.04106	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53294	-0.8459	4	.	.	.	.	12.2211	0.54435	0.0:0.4003:0.0:0.5997	.	.	.	.	M	619	.	.	T	+	2	0	ZNF687	149529305	0.953000	0.32496	0.938000	0.37757	0.938000	0.57974	0.123000	0.15708	-0.717000	0.04955	0.467000	0.42956	ACG		0.577	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651	
PSMB4	5692	hgsc.bcm.edu	37	1	151372174	151372174	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:151372174A>G	ENST00000290541.6	+	1	165	c.111A>G	c.(109-111)gcA>gcG	p.A37A		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGGCGTCTGCACTTTACAGAG	0.622																																					p.A37A												.	.	0			c.A111G	1						.						68.0	71.0	70.0					1																	151372174		2203	4300	6503	149638798	SO:0001819	synonymous_variant	5692	exon1			D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.111A>G	1.37:g.151372174A>G		Somatic		Capture	SOLID	Phase_I	149638798	NM_002796	B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Silent	SNP	ENST00000290541.6	37	CCDS996.1																																																																																				0.622	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796	
NPR1	4881	hgsc.bcm.edu	37	1	153659558	153659558	+	Missense_Mutation	SNP	G	G	A	rs191813645		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:153659558G>A	ENST00000368680.3	+	12	2402	c.1930G>A	c.(1930-1932)Gtc>Atc	p.V644I		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	644	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.V644I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CAATGACATCGTCAAGGTATG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		21594	0.001		0.0	False		,,,				2504	0.0				p.V644I	Pancreas(141;1349 1870 15144 15830 40702)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1930A	1						.						154.0	123.0	134.0					1																	153659558		2203	4300	6503	151926182	SO:0001583	missense	4881	exon12			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1930G>A	1.37:g.153659558G>A	ENSP00000357669:p.Val644Ile	Somatic		Capture	SOLID	Phase_I	151926182	NM_000906	B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	CCDS1051.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.6	4.176931	0.78564	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	D	0.82619	-1.63	4.29	4.29	0.51040	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	T	0.75376	0.3841	L	0.53729	1.69	0.80722	D	1	P;P	0.50066	0.552;0.931	B;P	0.49561	0.262;0.615	T	0.73795	-0.3870	10	0.11182	T	0.66	.	14.6285	0.68640	0.0:0.0:1.0:0.0	.	123;644	B7Z4Y7;P16066	.;ANPRA_HUMAN	I	644;123	ENSP00000357669:V644I	ENSP00000357669:V644I	V	+	1	0	NPR1	151926182	1.000000	0.71417	0.999000	0.59377	0.869000	0.49853	6.391000	0.73208	2.381000	0.81170	0.455000	0.32223	GTC		0.552	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906	
INTS3	65123	hgsc.bcm.edu	37	1	153732864	153732864	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:153732864C>T	ENST00000318967.2	+	12	1883	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	INTS3_ENST00000512605.1_Missense_Mutation_p.R233C|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R439C|INTS3_ENST00000456435.1_Missense_Mutation_p.R233C	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	440					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.R439C(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTCATGTGCCGCGTAAGTGT	0.522																																					p.R439C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1315T	1						.						129.0	88.0	102.0					1																	153732864		2203	4300	6503	151999488	SO:0001583	missense	65123	exon12			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1315C>T	1.37:g.153732864C>T	ENSP00000318641:p.Arg439Cys	Somatic		Capture	SOLID	Phase_I	151999488	NM_023015	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147107	0.77888	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.988	T	0.80623	-0.1300	9	0.87932	D	0	.	16.1198	0.81342	0.0:1.0:0.0:0.0	.	233;440;439	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	C	439;233;439;233	.	ENSP00000318641:R439C	R	+	1	0	INTS3	151999488	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	1.665000	0.37449	2.667000	0.90743	0.462000	0.41574	CGC		0.522	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015	
DCST2	127579	hgsc.bcm.edu	37	1	154997063	154997063	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:154997063G>T	ENST00000368424.3	-	11	1685	c.1627C>A	c.(1627-1629)Ctg>Atg	p.L543M	DCST2_ENST00000295536.5_Missense_Mutation_p.L543M	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	543						integral component of membrane (GO:0016021)		p.L543M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACATTGTACAGGTAGGAGATC	0.592																																					p.L543M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1627A	1						.						79.0	66.0	71.0					1																	154997063		2203	4300	6503	153263687	SO:0001583	missense	127579	exon11			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1627C>A	1.37:g.154997063G>T	ENSP00000357409:p.Leu543Met	Somatic		Capture	SOLID	Phase_I	153263687	NM_144622	Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802483	0.50315	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.74002	-0.8;-0.8	4.14	2.2	0.27929	Dendritic cell-specific transmembrane protein-like (1);	0.000000	0.49305	D	0.000143	T	0.79551	0.4465	M	0.83603	2.65	0.33825	D	0.629558	D	0.89917	1.0	D	0.97110	1.0	T	0.79431	-0.1806	10	0.72032	D	0.01	-26.8383	7.8724	0.29573	0.2042:0.0:0.7958:0.0	.	543	Q5T1A1	DCST2_HUMAN	M	543	ENSP00000357409:L543M;ENSP00000295536:L543M	ENSP00000295536:L543M	L	-	1	2	DCST2	153263687	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	2.366000	0.44204	0.961000	0.38030	0.462000	0.41574	CTG		0.592	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622	
FAM189B	10712	hgsc.bcm.edu	37	1	155223924	155223924	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:155223924A>C	ENST00000361361.2	-	3	853	c.344T>G	c.(343-345)cTc>cGc	p.L115R	FAM189B_ENST00000472550.1_Intron|SCAMP3_ENST00000472397.1_5'Flank|FAM189B_ENST00000350210.2_Intron|FAM189B_ENST00000368368.3_Missense_Mutation_p.L96R	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	115						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)	p.L115R(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTTACAGGAGAGAACAGAGCC	0.552																																					p.L115R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T344G	1						.						145.0	144.0	144.0					1																	155223924		2203	4300	6503	153490548	SO:0001583	missense	10712	exon3			AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.344T>G	1.37:g.155223924A>C	ENSP00000354958:p.Leu115Arg	Somatic		Capture	SOLID	Phase_I	153490548	NM_006589	B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.622870	0.66901	.	.	ENSG00000160767	ENST00000368368;ENST00000361361	T;T	0.03607	3.87;3.87	4.05	4.05	0.47172	.	0.176874	0.37669	N	0.001999	T	0.08891	0.0220	M	0.67397	2.05	0.42141	D	0.991513	D;D	0.76494	0.997;0.999	D;D	0.87578	0.996;0.998	T	0.01087	-1.1456	10	0.87932	D	0	.	11.2846	0.49214	1.0:0.0:0.0:0.0	.	96;115	B1AVS5;P81408	.;F189B_HUMAN	R	96;115	ENSP00000357352:L96R;ENSP00000354958:L115R	ENSP00000354958:L115R	L	-	2	0	FAM189B	153490548	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.019000	0.88732	1.832000	0.53329	0.459000	0.35465	CTC		0.552	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589	
HCN3	57657	hgsc.bcm.edu	37	1	155255596	155255596	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:155255596G>A	ENST00000368358.3	+	6	1326	c.1318G>A	c.(1318-1320)Gtt>Att	p.V440I	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	440					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.V440I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGTCACTGCAGTTCTCACCAA	0.617																																					p.V440I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1318A	1						.						69.0	63.0	65.0					1																	155255596		2203	4300	6503	153522220	SO:0001583	missense	57657	exon6			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1318G>A	1.37:g.155255596G>A	ENSP00000357342:p.Val440Ile	Somatic		Capture	SOLID	Phase_I	153522220	NM_020897	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080817	0.55753	.	.	ENSG00000143630	ENST00000368358	D	0.96011	-3.88	5.35	4.43	0.53597	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.46442	D	0.000290	D	0.82291	0.5005	N	0.05351	-0.065	0.53688	D	0.999974	B;B	0.17465	0.022;0.002	B;B	0.20184	0.028;0.015	T	0.79522	-0.1769	10	0.46703	T	0.11	.	7.5017	0.27522	0.1788:0.0:0.8212:0.0	.	135;440	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	I	440	ENSP00000357342:V440I	ENSP00000357342:V440I	V	+	1	0	HCN3	153522220	1.000000	0.71417	0.957000	0.39632	0.968000	0.65278	7.360000	0.79487	2.667000	0.90743	0.561000	0.74099	GTT		0.617	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897	
ASH1L	55870	hgsc.bcm.edu	37	1	155491065	155491065	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:155491065C>A	ENST00000368346.3	-	2	885	c.246G>T	c.(244-246)gaG>gaT	p.E82D	ASH1L_ENST00000548830.1_Missense_Mutation_p.E82D|ASH1L_ENST00000392403.3_Missense_Mutation_p.E82D			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	82					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E82D(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTAAATTTCCCTCTGAAAAGT	0.383																																					p.E82D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G246T	1						.						157.0	166.0	163.0					1																	155491065		2203	4300	6503	153757689	SO:0001583	missense	55870	exon2			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.246G>T	1.37:g.155491065C>A	ENSP00000357330:p.Glu82Asp	Somatic		Capture	SOLID	Phase_I	153757689	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	C	22.4	4.278445	0.80692	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.93547	-3.24;-3.23	5.89	4.03	0.46877	.	0.154403	0.45606	D	0.000347	D	0.90960	0.7158	L	0.27053	0.805	0.37586	D	0.919985	D;D	0.67145	0.993;0.996	D;D	0.75484	0.967;0.986	D	0.91949	0.5569	10	0.87932	D	0	.	9.4455	0.38695	0.0:0.7836:0.0:0.2164	.	82;82	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	D	82	ENSP00000357330:E82D;ENSP00000376204:E82D	ENSP00000357330:E82D	E	-	3	2	ASH1L	153757689	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.736000	0.38187	0.836000	0.34901	0.557000	0.71058	GAG		0.383	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
IQGAP3	128239	hgsc.bcm.edu	37	1	156504305	156504305	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:156504305T>C	ENST00000361170.2	-	29	3738	c.3728A>G	c.(3727-3729)cAc>cGc	p.H1243R	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1243					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.H1243R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAACTTGAGGTGTGTTTCCTC	0.567																																					p.H1243R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3728G	1						.						111.0	93.0	99.0					1																	156504305		2203	4300	6503	154770929	SO:0001583	missense	128239	exon29			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3728A>G	1.37:g.156504305T>C	ENSP00000354451:p.His1243Arg	Somatic		Capture	SOLID	Phase_I	154770929	NM_178229	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586153	0.66105	.	.	ENSG00000183856	ENST00000361170	T	0.81415	-1.49	5.15	5.15	0.70609	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.115139	0.64402	D	0.000020	T	0.71685	0.3369	M	0.69823	2.125	0.45733	D	0.99863	P	0.42827	0.791	B	0.37650	0.255	T	0.78023	-0.2366	10	0.56958	D	0.05	-24.7488	13.9671	0.64216	0.0:0.0:0.0:1.0	.	1243	Q86VI3	IQGA3_HUMAN	R	1243	ENSP00000354451:H1243R	ENSP00000354451:H1243R	H	-	2	0	IQGAP3	154770929	1.000000	0.71417	0.912000	0.35992	0.984000	0.73092	4.874000	0.63064	2.163000	0.67991	0.460000	0.39030	CAC		0.567	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
CD1A	909	hgsc.bcm.edu	37	1	158227298	158227298	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:158227298G>T	ENST00000289429.5	+	5	1504	c.971G>T	c.(970-972)cGc>cTc	p.R324L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	324					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.R324L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTCAGGAAACGCTGGTGAGTT	0.463																																					p.R324L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G971T	1						.						364.0	338.0	347.0					1																	158227298		2203	4300	6503	156493922	SO:0001583	missense	909	exon5			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.971G>T	1.37:g.158227298G>T	ENSP00000289429:p.Arg324Leu	Somatic		Capture	SOLID	Phase_I	156493922	NM_001763	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	-	14.67	2.604683	0.46423	.	.	ENSG00000158477	ENST00000289429	T	0.01572	4.76	3.94	-2.57	0.06248	.	1.755910	0.03247	N	0.181310	T	0.02304	0.0071	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.27365	-1.0076	10	0.72032	D	0.01	0.432	4.2371	0.10630	0.5155:0.0:0.3141:0.1704	.	324	P06126	CD1A_HUMAN	L	324	ENSP00000289429:R324L	ENSP00000289429:R324L	R	+	2	0	CD1A	156493922	0.000000	0.05858	0.029000	0.17559	0.002000	0.02628	-0.899000	0.04101	-0.394000	0.07727	-0.482000	0.04802	CGC		0.463	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763	
OR10J3	441911	hgsc.bcm.edu	37	1	159283953	159283953	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:159283953C>T	ENST00000332217.5	-	1	496	c.497G>A	c.(496-498)gGc>gAc	p.G166D		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G166D(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GAATGGCAGGCCAAACACAGA	0.502																																					p.G166D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G497A	1						.						68.0	60.0	63.0					1																	159283953		2203	4300	6503	157550577	SO:0001583	missense	441911	exon1				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.497G>A	1.37:g.159283953C>T	ENSP00000331789:p.Gly166Asp	Somatic		Capture	SOLID	Phase_I	157550577	NM_001004467		Missense_Mutation	SNP	ENST00000332217.5	37	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	8.066	0.769255	0.15983	.	.	ENSG00000196266	ENST00000332217	T	0.00063	8.78	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.12853	0.265	0.26704	N	0.971112	B	0.26120	0.142	B	0.36030	0.216	T	0.19257	-1.0311	9	0.42905	T	0.14	.	9.2906	0.37784	0.0:0.9049:0.0:0.0951	.	166	Q5JRS4	O10J3_HUMAN	D	166	ENSP00000331789:G166D	ENSP00000331789:G166D	G	-	2	0	OR10J3	157550577	0.000000	0.05858	0.998000	0.56505	0.466000	0.32739	-1.475000	0.02335	2.589000	0.87451	0.561000	0.74099	GGC		0.502	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1		
SLAMF8	56833	hgsc.bcm.edu	37	1	159799765	159799765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:159799765G>A	ENST00000289707.5	+	2	299	c.150G>A	c.(148-150)tgG>tgA	p.W50*	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	50					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.W50*(1)		endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					AGGCTATCTGGCGATCTCTCT	0.612																																					p.W50X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G150A	1						.						128.0	136.0	133.0					1																	159799765		2203	4300	6503	158066389	SO:0001587	stop_gained	56833	exon2			AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.150G>A	1.37:g.159799765G>A	ENSP00000289707:p.Trp50*	Somatic		Capture	SOLID	Phase_I	158066389	NM_020125	Q32MC6|Q5VU15	Nonsense_Mutation	SNP	ENST00000289707.5	37	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	G	37	5.986633	0.97173	.	.	ENSG00000158714	ENST00000289707	.	.	.	4.44	4.44	0.53790	.	0.078821	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9212	12.4262	0.55548	0.0:0.0:1.0:0.0	.	.	.	.	X	50	.	ENSP00000289707:W50X	W	+	3	0	SLAMF8	158066389	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	4.590000	0.61013	2.296000	0.77279	0.313000	0.20887	TGG		0.612	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125	
VSIG8	391123	hgsc.bcm.edu	37	1	159828610	159828610	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:159828610G>T	ENST00000368100.1	-	2	277	c.142C>A	c.(142-144)Ctg>Atg	p.L48M	RP11-190A12.7_ENST00000544342.1_3'UTR	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	48	Ig-like V-type 1.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)	p.L48M(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					TCAGGGTCCAGGACGTAGGGG	0.612																																					p.L48M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C142A	1						.						108.0	89.0	95.0					1																	159828610		2203	4300	6503	158095234	SO:0001583	missense	391123	exon2				CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.142C>A	1.37:g.159828610G>T	ENSP00000357080:p.Leu48Met	Somatic		Capture	SOLID	Phase_I	158095234	NM_001013661	Q5VU14	Missense_Mutation	SNP	ENST00000368100.1	37	CCDS30913.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556300	0.65425	.	.	ENSG00000243284	ENST00000368100	T	0.02682	4.2	5.43	2.47	0.30058	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.216375	0.40908	D	0.000983	T	0.03827	0.0108	L	0.52905	1.665	0.33333	D	0.568879	D	0.76494	0.999	D	0.91635	0.999	T	0.36768	-0.9734	9	.	.	.	.	6.7111	0.23278	0.3083:0.0:0.6917:0.0	.	48	Q5VU13	VSIG8_HUMAN	M	48	ENSP00000357080:L48M	.	L	-	1	2	VSIG8	158095234	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.371000	0.44248	0.235000	0.21160	0.655000	0.94253	CTG		0.612	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8	NM_001013661	
KCNJ9	3765	hgsc.bcm.edu	37	1	160053962	160053962	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:160053962C>A	ENST00000368088.3	+	2	384	c.142C>A	c.(142-144)Ctg>Atg	p.L48M		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	48					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.L48M(1)		biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGACGGACCTGTTCACCAC	0.677																																					p.L48M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C142A	1						.						71.0	45.0	54.0					1																	160053962		2203	4299	6502	158320586	SO:0001583	missense	3765	exon2			U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.142C>A	1.37:g.160053962C>A	ENSP00000357067:p.Leu48Met	Somatic		Capture	SOLID	Phase_I	158320586	NM_004983	Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598839	0.46318	.	.	ENSG00000162728	ENST00000368088	D	0.95205	-3.64	4.53	0.947	0.19555	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.181464	0.36972	N	0.002304	D	0.93074	0.7795	M	0.68593	2.085	0.32988	D	0.52453	P	0.45212	0.853	P	0.60609	0.877	D	0.89214	0.3566	10	0.40728	T	0.16	.	7.1341	0.25519	0.4197:0.4851:0.0:0.0951	.	48	Q92806	IRK9_HUMAN	M	48	ENSP00000357067:L48M	ENSP00000357067:L48M	L	+	1	2	KCNJ9	158320586	0.868000	0.29978	0.985000	0.45067	0.981000	0.71138	0.011000	0.13264	0.302000	0.22762	0.430000	0.28490	CTG		0.677	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983	
IGSF8	93185	hgsc.bcm.edu	37	1	160062852	160062852	+	Missense_Mutation	SNP	G	G	A	rs144272439		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:160062852G>A	ENST00000368086.1	-	4	1390	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	IGSF8_ENST00000314485.7_Missense_Mutation_p.R392W|IGSF8_ENST00000460351.1_5'Flank			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	392	Ig-like C2-type 3.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R392W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTCTAGCCGTAGCCGGTAT	0.642																																					p.R392W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1174T	1						.	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	63.0	60.0	61.0		1174,1174	2.9	1.0	1	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IGSF8	NM_001206665.2,NM_052868.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	392/614,392/614	160062852	1,13005	2203	4300	6503	158329476	SO:0001583	missense	93185	exon4			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1174C>T	1.37:g.160062852G>A	ENSP00000357065:p.Arg392Trp	Somatic		Capture	SOLID	Phase_I	158329476	NM_052868	Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102324	0.56183	0.0	1.16E-4	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475	T;T	0.29397	1.57;1.57	3.84	2.86	0.33363	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.251713	0.26492	U	0.024077	T	0.39200	0.1069	L	0.61218	1.895	0.41367	D	0.98746	D	0.89917	1.0	D	0.81914	0.995	T	0.28776	-1.0033	10	0.52906	T	0.07	-14.5198	11.4495	0.50145	0.0:0.0:0.8193:0.1806	.	392	Q969P0	IGSF8_HUMAN	W	392	ENSP00000316664:R392W;ENSP00000357065:R392W	ENSP00000316664:R392W	R	-	1	2	IGSF8	158329476	0.997000	0.39634	0.985000	0.45067	0.913000	0.54294	2.593000	0.46180	1.686000	0.51046	0.313000	0.20887	CGG		0.642	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868	
PVRL4	81607	hgsc.bcm.edu	37	1	161042468	161042468	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:161042468G>A	ENST00000368012.3	-	9	1818	c.1516C>T	c.(1516-1518)Cgg>Tgg	p.R506W	PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Missense_Mutation_p.R215W|ARHGAP30_ENST00000368015.1_5'Flank|ARHGAP30_ENST00000368013.3_5'Flank	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	506					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R506W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGGTGTCCCCGCCCATTGATG	0.552																																					p.R506W	NSCLC(76;1160 1387 14476 16172 29359)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1516T	1						.						120.0	99.0	106.0					1																	161042468		2203	4300	6503	159309092	SO:0001583	missense	81607	exon9			AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1516C>T	1.37:g.161042468G>A	ENSP00000356991:p.Arg506Trp	Somatic		Capture	SOLID	Phase_I	159309092	NM_030916	B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945980	0.73672	.	.	ENSG00000143217	ENST00000368012;ENST00000453926	T;T	0.63417	-0.04;0.09	4.85	4.85	0.62838	.	0.000000	0.42964	D	0.000624	T	0.55940	0.1952	N	0.19112	0.55	0.40178	D	0.977251	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.973;0.973;0.993	T	0.64292	-0.6442	10	0.87932	D	0	.	10.5433	0.45045	0.0:0.0:0.8073:0.1927	.	215;160;506	B4DQW3;B4DWD4;Q96NY8	.;.;PVRL4_HUMAN	W	506;215	ENSP00000356991:R506W;ENSP00000406015:R215W	ENSP00000356991:R506W	R	-	1	2	PVRL4	159309092	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	3.064000	0.49986	2.504000	0.84457	0.655000	0.94253	CGG		0.552	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916	
C1orf192	257177	hgsc.bcm.edu	37	1	161335415	161335415	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:161335415G>T	ENST00000367974.1	-	4	254	c.249C>A	c.(247-249)tcC>tcA	p.S83S	RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	83								p.S83S(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGTTGTACGGGAGGTCAGGG	0.512																																					p.S83S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C249A	1						.						142.0	151.0	148.0					1																	161335415		2203	4300	6503	159602039	SO:0001819	synonymous_variant	257177	exon4				CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.249C>A	1.37:g.161335415G>T		Somatic		Capture	SOLID	Phase_I	159602039	NM_001013625		Silent	SNP	ENST00000367974.1	37	CCDS30921.1																																																																																				0.512	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083309.1	NM_001013625	
ATF6	22926	hgsc.bcm.edu	37	1	161789448	161789448	+	Missense_Mutation	SNP	G	G	A	rs148863991		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:161789448G>A	ENST00000367942.3	+	8	1002	c.935G>A	c.(934-936)cGt>cAt	p.R312H		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	312	Basic motif.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R312H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	AGACAGCAACGTATGATAAAA	0.363													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15957	0.0		0.0	False		,,,				2504	0.0				p.R312H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G935A	1						.	G	HIS/ARG	0,4406		0,0,2203	58.0	60.0	59.0		935	5.2	1.0	1	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATF6	NM_007348.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	312/671	161789448	1,13005	2203	4300	6503	160056072	SO:0001583	missense	22926	exon8			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.935G>A	1.37:g.161789448G>A	ENSP00000356919:p.Arg312His	Somatic		Capture	SOLID	Phase_I	160056072	NM_007348	O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902147	0.92035	0.0	1.16E-4	ENSG00000118217	ENST00000367942	T	0.67698	-0.28	5.19	5.19	0.71726	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.86855	0.6033	H	0.97415	4	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91392	0.5136	9	0.87932	D	0	-16.5346	16.2232	0.82269	0.0:0.0:1.0:0.0	.	312;313	P18850;Q59H30	ATF6A_HUMAN;.	H	312	ENSP00000356919:R312H	ENSP00000356919:R312H	R	+	2	0	ATF6	160056072	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	8.517000	0.90555	2.408000	0.81797	0.650000	0.86243	CGT		0.363	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348	
CLCNKA	1187	hgsc.bcm.edu	37	1	16358271	16358271	+	Silent	SNP	G	G	A	rs199587920	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:16358271G>A	ENST00000331433.4	+	16	1708	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P	CLCNKA_ENST00000375692.1_Silent_p.P563P|CLCNKA_ENST00000439316.2_Silent_p.P520P|CLCNKA_ENST00000420078.1_Silent_p.P563P|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	563	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.P563P(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AGGACACGCCGCTGGAGGAGG	0.632																																					p.P563P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1689A	1						.						127.0	94.0	105.0					1																	16358271		2203	4300	6503	16230858	SO:0001819	synonymous_variant	1187	exon16				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1689G>A	1.37:g.16358271G>A		Somatic		Capture	SOLID	Phase_I	16230858	NM_004070	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	CCDS167.1																																																																																				0.632	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1		
EPHA2	1969	hgsc.bcm.edu	37	1	16475292	16475292	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:16475292T>A	ENST00000358432.5	-	3	558	c.404A>T	c.(403-405)cAg>cTg	p.Q135L	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	135	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CAGGCGCTTCTGGAAGTTGGT	0.587																																					p.Q135L												.	.	0			c.A404T	1						.						107.0	87.0	94.0					1																	16475292		2203	4300	6503	16347879	SO:0001583	missense	1969	exon3			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.404A>T	1.37:g.16475292T>A	ENSP00000351209:p.Gln135Leu	Somatic		Capture	SOLID	Phase_I	16347879	NM_004431	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094759	0.76870	.	.	ENSG00000142627	ENST00000358432	T	0.03689	3.84	5.14	5.14	0.70334	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.53938	D	0.000060	T	0.12263	0.0298	M	0.61703	1.905	0.58432	D	0.999998	D;P	0.67145	0.996;0.886	P;B	0.58780	0.845;0.303	T	0.00391	-1.1769	10	0.72032	D	0.01	.	12.8998	0.58119	0.0:0.0:0.0:1.0	.	135;135	B5A968;P29317	.;EPHA2_HUMAN	L	135	ENSP00000351209:Q135L	ENSP00000351209:Q135L	Q	-	2	0	EPHA2	16347879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.095000	0.41729	1.937000	0.56155	0.459000	0.35465	CAG		0.587	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	
FBXO42	54455	hgsc.bcm.edu	37	1	16580147	16580147	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:16580147G>T	ENST00000375592.3	-	7	1063	c.847C>A	c.(847-849)Cga>Aga	p.R283R		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	283								p.R283R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGGCCACCTCGAGGATGAGGA	0.517																																					p.R283R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C847A	1						.						63.0	57.0	59.0					1																	16580147		2203	4300	6503	16452734	SO:0001819	synonymous_variant	54455	exon7			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.847C>A	1.37:g.16580147G>T		Somatic		Capture	SOLID	Phase_I	16452734	NM_018994	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Silent	SNP	ENST00000375592.3	37	CCDS30613.1																																																																																				0.517	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1		
OLFML2B	25903	hgsc.bcm.edu	37	1	161954657	161954657	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:161954657C>T	ENST00000294794.3	-	7	2011	c.1588G>A	c.(1588-1590)Gta>Ata	p.V530I	OLFML2B_ENST00000367940.2_Missense_Mutation_p.V531I|OLFML2B_ENST00000367938.1_Missense_Mutation_p.V13I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	530	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.V530I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TAGTTGGTTACGTAAATCCGC	0.532																																					p.V530I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1588A	1						.						273.0	248.0	256.0					1																	161954657		2203	4300	6503	160221281	SO:0001583	missense	25903	exon7			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1588G>A	1.37:g.161954657C>T	ENSP00000294794:p.Val530Ile	Somatic		Capture	SOLID	Phase_I	160221281	NM_015441	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869681	0.91587	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.91792	-2.91;-2.91;-2.91	4.31	4.31	0.51392	Olfactomedin-like (3);	.	.	.	.	D	0.93245	0.7848	M	0.71581	2.175	0.39480	D	0.967866	D;P	0.59767	0.986;0.891	P;P	0.59012	0.85;0.466	D	0.93426	0.6781	8	0.51188	T	0.08	.	14.3441	0.66649	0.0:1.0:0.0:0.0	.	531;530	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	I	530;531;13	ENSP00000294794:V530I;ENSP00000356917:V531I;ENSP00000356915:V13I	ENSP00000294794:V530I	V	-	1	0	OLFML2B	160221281	1.000000	0.71417	0.679000	0.29978	0.979000	0.70002	7.510000	0.81708	2.232000	0.73038	0.561000	0.74099	GTA		0.532	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
RCSD1	92241	hgsc.bcm.edu	37	1	167666688	167666688	+	Missense_Mutation	SNP	C	C	T	rs564599375		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:167666688C>T	ENST00000367854.3	+	6	1158	c.827C>T	c.(826-828)cCg>cTg	p.P276L	RCSD1_ENST00000537350.1_Missense_Mutation_p.P246L	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	276	RCSD.				cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)	p.P276L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GGCCAGCACCCGGCCCAAGAG	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15602	0.0		0.0	False		,,,				2504	0.0				p.P276L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C827T	1						.						32.0	46.0	41.0					1																	167666688		2199	4299	6498	165933312	SO:0001583	missense	92241	exon6			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.827C>T	1.37:g.167666688C>T	ENSP00000356828:p.Pro276Leu	Somatic		Capture	SOLID	Phase_I	165933312	NM_052862	B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657086	0.47467	.	.	ENSG00000198771	ENST00000367854;ENST00000537350	T;T	0.50277	0.79;0.75	3.65	1.46	0.22682	.	1.407880	0.04493	N	0.379983	T	0.33818	0.0876	L	0.27053	0.805	0.40021	D	0.975412	D;B	0.76494	0.999;0.073	P;B	0.58620	0.842;0.02	T	0.13255	-1.0516	9	0.62326	D	0.03	-1.0078	7.3136	0.26488	0.1901:0.6246:0.1853:0.0	.	246;276	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	L	276;246	ENSP00000356828:P276L;ENSP00000439409:P246L	ENSP00000356828:P276L	P	+	2	0	RCSD1	165933312	0.000000	0.05858	0.003000	0.11579	0.028000	0.11728	0.642000	0.24735	0.607000	0.29982	-0.515000	0.04445	CCG		0.632	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862	
ATP1B1	481	hgsc.bcm.edu	37	1	169080652	169080652	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:169080652G>T	ENST00000367816.1	+	3	671	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C	ATP1B1_ENST00000367815.4_Missense_Mutation_p.G48C|ATP1B1_ENST00000367813.3_Missense_Mutation_p.G40C|ATP1B1_ENST00000499679.3_5'UTR			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	48					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.G48C(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					CTGCCTGGCTGGCATCTTCAT	0.443																																					p.G48C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G142T	1						.						134.0	123.0	127.0					1																	169080652		2203	4300	6503	167347276	SO:0001583	missense	481	exon2			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.142G>T	1.37:g.169080652G>T	ENSP00000356790:p.Gly48Cys	Somatic		Capture	SOLID	Phase_I	167347276	NM_001677	Q5TGZ3	Missense_Mutation	SNP	ENST00000367816.1	37	CCDS1276.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746110	0.89663	.	.	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000367813	T;T;T	0.39787	1.06;1.06;1.06	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	M	0.84846	2.72	0.53688	D	0.999977	D	0.89917	1.0	D	0.91635	0.999	T	0.69316	-0.5177	9	0.56958	D	0.05	.	19.0421	0.93004	0.0:0.0:1.0:0.0	.	48	P05026	AT1B1_HUMAN	C	48;48;40	ENSP00000356790:G48C;ENSP00000356789:G48C;ENSP00000356787:G40C	ENSP00000356787:G40C	G	+	1	0	ATP1B1	167347276	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	9.282000	0.95840	2.559000	0.86315	0.650000	0.86243	GGC		0.443	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1		
F5	2153	hgsc.bcm.edu	37	1	169495229	169495229	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:169495229C>A	ENST00000367797.3	-	18	5827	c.5626G>T	c.(5626-5628)Gca>Tca	p.A1876S	F5_ENST00000367796.3_Missense_Mutation_p.A1881S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1876	F5/8 type A 3.|Plastocyanin-like 6.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.A1876S(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGTTTTGATGCCTTCATTTCA	0.363																																					p.A1876S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5626T	1						.						133.0	132.0	132.0					1																	169495229		2203	4300	6503	167761853	SO:0001583	missense	2153	exon18			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5626G>T	1.37:g.169495229C>A	ENSP00000356771:p.Ala1876Ser	Somatic		Capture	SOLID	Phase_I	167761853	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867358	0.51588	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99807	-6.85;-6.85	5.81	3.91	0.45181	Cupredoxin (2);	0.165679	0.53938	N	0.000055	D	0.99080	0.9684	M	0.87827	2.91	0.24664	N	0.993458	B	0.17268	0.021	B	0.21151	0.033	D	0.99973	1.2068	9	0.66056	D	0.02	-8.8824	11.3663	0.49673	0.1155:0.4732:0.4113:0.0	.	1876	P12259	FA5_HUMAN	S	1876;1881	ENSP00000356771:A1876S;ENSP00000356770:A1881S	ENSP00000356770:A1881S	A	-	1	0	F5	167761853	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.800000	0.47900	0.767000	0.33267	-0.165000	0.13383	GCA		0.363	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
PRRX1	5396	hgsc.bcm.edu	37	1	170695391	170695391	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:170695391C>T	ENST00000239461.6	+	3	761	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.R150C|PRRX1_ENST00000367760.3_Missense_Mutation_p.R150C	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	150					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.R150C(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCCAAGTTCCGCAGGAATGA	0.498																																					p.R150C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C448T	1						.						65.0	61.0	62.0					1																	170695391		2203	4300	6503	168962015	SO:0001583	missense	5396	exon3			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.448C>T	1.37:g.170695391C>T	ENSP00000239461:p.Arg150Cys	Somatic		Capture	SOLID	Phase_I	168962015	NM_006902	B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404493	0.83230	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230	D;D;D	0.97665	-4.48;-4.48;-4.48	5.63	5.63	0.86233	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.104378	0.64402	D	0.000002	D	0.99426	0.9797	H	0.99900	4.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	D	0.98070	1.0398	10	0.87932	D	0	.	18.2616	0.90038	0.0:1.0:0.0:0.0	.	150;150	P54821;P54821-2	PRRX1_HUMAN;.	C	150	ENSP00000356734:R150C;ENSP00000239461:R150C;ENSP00000450762:R150C	ENSP00000239461:R150C	R	+	1	0	PRRX1	168962015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.485000	0.66850	2.649000	0.89929	0.650000	0.86243	CGC		0.498	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902	
VAMP4	8674	hgsc.bcm.edu	37	1	171675511	171675511	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:171675511A>G	ENST00000236192.7	-	7	779	c.393T>C	c.(391-393)atT>atC	p.I131I	VAMP4_ENST00000367740.2_Silent_p.I130I|VAMP4_ENST00000482519.1_5'UTR|VAMP4_ENST00000415773.1_Silent_p.I130I	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	131					Golgi to plasma membrane protein transport (GO:0043001)|regulation of Golgi to plasma membrane protein transport (GO:0042996)|SNARE complex assembly (GO:0035493)	cell surface (GO:0009986)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|SNARE complex (GO:0031201)|trans-Golgi network (GO:0005802)		p.I131I(1)		large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACTTACTGATAATCACTAGCA	0.308																																					p.I130I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T390C	1						.						101.0	109.0	106.0					1																	171675511		2203	4295	6498	169942134	SO:0001819	synonymous_variant	8674	exon7			AF044310	CCDS1298.1, CCDS53430.1	1q24-q25	2013-02-13			ENSG00000117533	ENSG00000117533		"""Vesicle-associated membrane proteins"""	12645	protein-coding gene	gene with protein product		606909				9553086	Standard	NM_003762		Approved		uc001ghx.2	O75379	OTTHUMG00000034788	ENST00000236192.7:c.393T>C	1.37:g.171675511A>G		Somatic		Capture	SOLID	Phase_I	169942134	NM_001185127	A2IDD8|Q96IY9|Q96J20|Q9UEL7	Silent	SNP	ENST00000236192.7	37	CCDS1298.1																																																																																				0.308	VAMP4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000304033.2	NM_003762	
TNN	63923	hgsc.bcm.edu	37	1	175087810	175087810	+	Missense_Mutation	SNP	G	G	A	rs541706099		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:175087810G>A	ENST00000239462.4	+	11	2613	c.2500G>A	c.(2500-2502)Gcc>Acc	p.A834T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	834	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.A834T(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTACACGTCTGCCAACGGAGA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17970	0.0		0.0	False		,,,				2504	0.001				p.A834T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2500A	1						.						91.0	81.0	85.0					1																	175087810		2203	4300	6503	173354433	SO:0001583	missense	63923	exon11			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2500G>A	1.37:g.175087810G>A	ENSP00000239462:p.Ala834Thr	Somatic		Capture	SOLID	Phase_I	173354433	NM_022093	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747599	0.30955	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.56611	0.45	5.01	4.06	0.47325	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.340507	0.33753	N	0.004600	T	0.61949	0.2388	L	0.49640	1.575	0.31079	N	0.712084	D	0.59767	0.986	D	0.67382	0.951	T	0.61486	-0.7053	10	0.15499	T	0.54	.	13.6373	0.62229	0.0:0.2968:0.7032:0.0	.	834	Q9UQP3	TENN_HUMAN	T	834;657	ENSP00000239462:A834T	ENSP00000239462:A834T	A	+	1	0	TNN	173354433	0.002000	0.14202	0.772000	0.31596	0.003000	0.03518	0.857000	0.27831	1.176000	0.42840	0.313000	0.20887	GCC		0.612	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
TNN	63923	hgsc.bcm.edu	37	1	175105027	175105027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:175105027G>A	ENST00000239462.4	+	16	3490	c.3377G>A	c.(3376-3378)tGg>tAg	p.W1126*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1126	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.W1126*(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTCAAGCGATGGAGGAGCTAT	0.537																																					p.W1126X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3377A	1						.						151.0	151.0	151.0					1																	175105027		2203	4300	6503	173371650	SO:0001587	stop_gained	63923	exon16			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3377G>A	1.37:g.175105027G>A	ENSP00000239462:p.Trp1126*	Somatic		Capture	SOLID	Phase_I	173371650	NM_022093	B9EGP3|Q5R360	Nonsense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	43	9.899818	0.99290	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	.	.	.	5.5	5.5	0.81552	.	0.115488	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.003	0.92841	0.0:0.0:1.0:0.0	.	.	.	.	X	1126;949	.	ENSP00000239462:W1126X	W	+	2	0	TNN	173371650	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.420000	0.97426	2.555000	0.86185	0.655000	0.94253	TGG		0.537	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
RFWD2	64326	hgsc.bcm.edu	37	1	176012862	176012862	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:176012862C>A	ENST00000367669.3	-	13	2028	c.1514G>T	c.(1513-1515)aGg>aTg	p.R505M	RFWD2_ENST00000308769.8_Missense_Mutation_p.R481M	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	505					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.R505M(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GACCTTTGACCTCTGTCCTGT	0.348																																					p.R505M	Ovarian(134;1413 1765 5706 35534 51541)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1514T	1						.						183.0	187.0	185.0					1																	176012862		2203	4300	6503	174279485	SO:0001583	missense	64326	exon13			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1514G>T	1.37:g.176012862C>A	ENSP00000356641:p.Arg505Met	Somatic		Capture	SOLID	Phase_I	174279485	NM_022457	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	CCDS30944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.002527|4.002527	0.74932|0.74932	.|.	.|.	ENSG00000143207|ENSG00000143207	ENST00000459744|ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	.|T;T;T	.|0.41065	.|1.01;1.01;1.01	5.76|5.76	5.76|5.76	0.90799|0.90799	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.043985	.|0.85682	.|D	.|0.000000	T|T	0.52370|0.52370	0.1730|0.1730	N|N	0.25380|0.25380	0.74|0.74	0.58432|0.58432	D|D	0.99999|0.99999	.|P;P;D;D;P	.|0.61697	.|0.889;0.938;0.969;0.99;0.938	.|P;P;P;D;P	.|0.64237	.|0.694;0.69;0.742;0.923;0.69	T|T	0.51044|0.51044	-0.8755|-0.8755	5|10	.|0.51188	.|T	.|0.08	-4.3038|-4.3038	19.5392|19.5392	0.95267|0.95267	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|280;265;481;505;505	.|Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.|.;.;.;RFWD2_HUMAN;.	C|M	225|280;505;340;481	.|ENSP00000356641:R505M;ENSP00000356638:R340M;ENSP00000310943:R481M	.|ENSP00000310943:R481M	G|R	-|-	1|2	0|0	RFWD2|RFWD2	174279485|174279485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.734000|5.734000	0.68580|0.68580	2.718000|2.718000	0.92993|0.92993	0.563000|0.563000	0.77884|0.77884	GGT|AGG		0.348	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457	
BRINP2	57795	hgsc.bcm.edu	37	1	177245489	177245489	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:177245489G>A	ENST00000361539.4	+	6	1243	c.931G>A	c.(931-933)Gct>Act	p.A311T	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	311					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.A311T(1)									CTGCCCTGATGCTGACATCCA	0.572																																					p.A311T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G931A	1						.						76.0	62.0	67.0					1																	177245489		2203	4300	6503	175512112	SO:0001583	missense	57795	exon6				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.931G>A	1.37:g.177245489G>A	ENSP00000354481:p.Ala311Thr	Somatic		Capture	SOLID	Phase_I	175512112	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	7.385	0.629600	0.14257	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14144	2.53	6.07	1.78	0.24846	.	0.226724	0.44902	N	0.000416	T	0.06600	0.0169	N	0.26042	0.785	0.09310	N	0.999999	B;B;B	0.26845	0.161;0.02;0.079	B;B;B	0.26770	0.073;0.028;0.052	T	0.38134	-0.9675	10	0.07325	T	0.83	-7.2156	4.3978	0.11372	0.1978:0.1167:0.5784:0.1071	.	61;206;311	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	T	61;311	ENSP00000354481:A311T	ENSP00000354481:A311T	A	+	1	0	FAM5B	175512112	0.000000	0.05858	0.003000	0.11579	0.930000	0.56654	0.667000	0.25112	0.440000	0.26502	0.655000	0.94253	GCT		0.572	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
AXDND1	126859	hgsc.bcm.edu	37	1	179414159	179414159	+	Missense_Mutation	SNP	G	G	A	rs371568732		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:179414159G>A	ENST00000367618.3	+	16	2005	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	AXDND1_ENST00000457238.2_Missense_Mutation_p.D540N|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	540								p.D540N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GTCAAAATACGATACTCTCAA	0.383																																					p.D540N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1618A	1						.						93.0	98.0	96.0					1																	179414159		2202	4300	6502	177680782	SO:0001583	missense	126859	exon16			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1618G>A	1.37:g.179414159G>A	ENSP00000356590:p.Asp540Asn	Somatic		Capture	SOLID	Phase_I	177680782	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131344	0.94473	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.49139	2.1;0.79;2.11	5.72	5.72	0.89469	.	0.345297	0.33670	N	0.004670	T	0.66645	0.2810	M	0.70275	2.135	0.22666	N	0.998872	D;D;D	0.89917	1.0;0.999;0.998	D;D;P	0.66602	0.945;0.92;0.805	T	0.61879	-0.6972	10	0.72032	D	0.01	-10.6575	15.7322	0.77814	0.0:0.0:1.0:0.0	.	498;540;540	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	N	540;498;540;474	ENSP00000356590:D540N;ENSP00000416712:D540N;ENSP00000391716:D474N	ENSP00000353471:D498N	D	+	1	0	AXDND1	177680782	0.996000	0.38824	0.128000	0.21923	0.501000	0.33797	5.196000	0.65136	2.863000	0.98299	0.549000	0.68633	GAT		0.383	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
LAMC2	3918	hgsc.bcm.edu	37	1	183204789	183204789	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:183204789C>T	ENST00000264144.4	+	16	2445	c.2380C>T	c.(2380-2382)Cgc>Tgc	p.R794C	LAMC2_ENST00000493293.1_Missense_Mutation_p.R794C	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	794	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.R794C(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTCACTGGTGCGCAAGGCCCT	0.537											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R794C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2380T	1						.						105.0	91.0	96.0					1																	183204789		2203	4300	6503	181471412	SO:0001583	missense	3918	exon16			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2380C>T	1.37:g.183204789C>T	ENSP00000264144:p.Arg794Cys	Somatic	1982	Capture	SOLID	Phase_I	181471412	NM_018891	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446306	0.43429	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.18338	2.37;2.22	5.84	3.93	0.45458	.	0.683555	0.14998	N	0.286271	T	0.23572	0.0570	L	0.60455	1.87	0.20873	N	0.999837	P;P;P	0.52842	0.926;0.926;0.956	B;B;P	0.46049	0.306;0.306;0.502	T	0.05835	-1.0861	10	0.56958	D	0.05	.	12.7156	0.57113	0.2998:0.7002:0.0:0.0	.	794;794;794	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	C	794	ENSP00000432063:R794C;ENSP00000264144:R794C	ENSP00000264144:R794C	R	+	1	0	LAMC2	181471412	0.018000	0.18449	0.001000	0.08648	0.001000	0.01503	2.133000	0.42093	0.772000	0.33382	-0.175000	0.13238	CGC		0.537	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	
KLHDC7A	127707	hgsc.bcm.edu	37	1	18808291	18808291	+	Missense_Mutation	SNP	G	G	T	rs372156529		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:18808291G>T	ENST00000400664.1	+	1	868	c.816G>T	c.(814-816)gaG>gaT	p.E272D		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	272						integral component of membrane (GO:0016021)		p.E272D(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAATGGAGGAGCATTTCATAC	0.592																																					p.E272D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G816T	1						.						78.0	82.0	81.0					1																	18808291		2203	4300	6503	18680878	SO:0001583	missense	127707	exon1			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.816G>T	1.37:g.18808291G>T	ENSP00000383505:p.Glu272Asp	Somatic		Capture	SOLID	Phase_I	18680878	NM_152375	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719130	0.48622	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.76060	-0.99	4.65	2.75	0.32379	.	0.293574	0.27447	U	0.019322	T	0.56877	0.2015	L	0.32530	0.975	0.27579	N	0.949651	P;P	0.43750	0.816;0.615	B;B	0.35813	0.211;0.142	T	0.51124	-0.8745	10	0.32370	T	0.25	.	8.9987	0.36068	0.1842:0.0:0.8158:0.0	.	209;272	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	D	272;209	ENSP00000383505:E272D	ENSP00000383505:E272D	E	+	3	2	KLHDC7A	18680878	1.000000	0.71417	0.876000	0.34364	0.281000	0.26958	1.461000	0.35255	0.932000	0.37266	0.313000	0.20887	GAG		0.592	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375	
PAX7	5081	hgsc.bcm.edu	37	1	19027178	19027178	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:19027178G>A	ENST00000375375.3	+	6	1416	c.818G>A	c.(817-819)cGt>cAt	p.R273H	PAX7_ENST00000400661.3_Missense_Mutation_p.R271H|PAX7_ENST00000420770.2_Missense_Mutation_p.R273H	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	273					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R273H(1)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GCCCGTTGGCGTAAGCAGGCA	0.652			T	FOXO1A	alveolar rhabdomyosarcoma																																p.R271H			Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G812A	1						.						49.0	54.0	52.0					1																	19027178		2203	4300	6503	18899765	SO:0001583	missense	5081	exon6			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.818G>A	1.37:g.19027178G>A	ENSP00000364524:p.Arg273His	Somatic		Capture	SOLID	Phase_I	18899765	NM_013945	E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	CCDS186.1	.	.	.	.	.	.	.	.	.	.	G	32	5.163711	0.94727	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.97642	-4.47;-4.47;-4.47	4.82	4.82	0.62117	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	H	0.99900	4.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.983;0.993;0.989	D	0.98032	1.0377	10	0.87932	D	0	.	16.6357	0.85059	0.0:0.0:1.0:0.0	.	273;271;273	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	H	273;273;271	ENSP00000364524:R273H;ENSP00000403389:R273H;ENSP00000383502:R271H	ENSP00000364524:R273H	R	+	2	0	PAX7	18899765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.134000	0.94467	2.475000	0.83589	0.561000	0.74099	CGT		0.652	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584	
HMCN1	83872	hgsc.bcm.edu	37	1	185970756	185970756	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:185970756A>G	ENST00000271588.4	+	28	4460	c.4231A>G	c.(4231-4233)Aac>Gac	p.N1411D	HMCN1_ENST00000367492.2_Missense_Mutation_p.N1411D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1411	Ig-like C2-type 11.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.N1411D(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAGACTGTGAACAATGGGAA	0.383																																					p.N1411D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4231G	1						.						85.0	87.0	87.0					1																	185970756		2203	4300	6503	184237379	SO:0001583	missense	83872	exon28			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4231A>G	1.37:g.185970756A>G	ENSP00000271588:p.Asn1411Asp	Somatic		Capture	SOLID	Phase_I	184237379	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	0.313	-0.966859	0.02232	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67698	-0.28;-0.28	5.57	4.48	0.54585	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.370390	0.33110	N	0.005261	T	0.46795	0.1411	N	0.16708	0.43	0.25084	N	0.990904	P	0.36144	0.539	B	0.39706	0.307	T	0.35475	-0.9787	10	0.11485	T	0.65	.	7.5526	0.27806	0.7029:0.21:0.0871:0.0	.	1411	Q96RW7	HMCN1_HUMAN	D	1411	ENSP00000271588:N1411D;ENSP00000356462:N1411D	ENSP00000271588:N1411D	N	+	1	0	HMCN1	184237379	0.966000	0.33281	0.409000	0.26459	0.227000	0.25037	3.279000	0.51670	2.112000	0.64535	0.477000	0.44152	AAC		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
KCNT2	343450	hgsc.bcm.edu	37	1	196285057	196285057	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:196285057A>G	ENST00000294725.9	-	21	3363	c.2448T>C	c.(2446-2448)gaT>gaC	p.D816D	KCNT2_ENST00000367431.4_Silent_p.D742D|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Silent_p.D792D|KCNT2_ENST00000609185.1_Silent_p.D742D|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	816					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.D816D(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGGTTTTGGCATCTGCCATGT	0.443																																					p.D816D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2448C	1						.						148.0	120.0	130.0					1																	196285057		2203	4300	6503	194551680	SO:0001819	synonymous_variant	343450	exon21			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2448T>C	1.37:g.196285057A>G		Somatic		Capture	SOLID	Phase_I	194551680	NM_198503	Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	CCDS1384.1																																																																																				0.443	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	
ASPM	259266	hgsc.bcm.edu	37	1	197060038	197060038	+	Missense_Mutation	SNP	C	C	A	rs373418682		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:197060038C>A	ENST00000367409.4	-	23	9834	c.9578G>T	c.(9577-9579)cGc>cTc	p.R3193L	ASPM_ENST00000367408.1_Missense_Mutation_p.R858L|ASPM_ENST00000294732.7_Missense_Mutation_p.R1608L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3193	IQ 38. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R3193L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAGAAAATGGCGCACTGCTTT	0.348																																					p.R3193L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9578T	1						.						111.0	108.0	109.0					1																	197060038		2203	4300	6503	195326661	SO:0001583	missense	259266	exon23			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9578G>T	1.37:g.197060038C>A	ENSP00000356379:p.Arg3193Leu	Somatic		Capture	SOLID	Phase_I	195326661	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417627	0.42918	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	D;D;T	0.84146	-1.81;-1.81;0.61	5.05	4.13	0.48395	.	0.070349	0.56097	D	0.000036	D	0.90745	0.7095	M	0.77103	2.36	0.25319	N	0.989138	P;P;D	0.89917	0.778;0.547;1.0	B;B;D	0.97110	0.387;0.255;1.0	T	0.83206	-0.0076	10	0.87932	D	0	.	8.5917	0.33690	0.1514:0.7709:0.0:0.0777	.	1179;1608;3193	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	L	3193;1608;858;1179	ENSP00000356379:R3193L;ENSP00000294732:R1608L;ENSP00000356378:R858L	ENSP00000294732:R1608L	R	-	2	0	ASPM	195326661	0.381000	0.25140	0.182000	0.23118	0.107000	0.19398	1.680000	0.37607	1.251000	0.43983	0.491000	0.48974	CGC		0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ASPM	259266	hgsc.bcm.edu	37	1	197072442	197072442	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:197072442T>C	ENST00000367409.4	-	18	6195	c.5939A>G	c.(5938-5940)tAc>tGc	p.Y1980C	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1980	IQ 13. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.Y1980C(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATTCTATAGTATGACTGTAT	0.388																																					p.Y1980C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5939G	1						.						180.0	176.0	177.0					1																	197072442		2203	4299	6502	195339065	SO:0001583	missense	259266	exon18			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5939A>G	1.37:g.197072442T>C	ENSP00000356379:p.Tyr1980Cys	Somatic		Capture	SOLID	Phase_I	195339065	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	8.026	0.760602	0.15914	.	.	ENSG00000066279	ENST00000367409	T	0.26660	1.72	5.62	0.551	0.17225	.	0.669414	0.14887	N	0.292657	T	0.32912	0.0845	L	0.41079	1.255	0.09310	N	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.10337	-1.0634	10	0.39692	T	0.17	.	4.2144	0.10528	0.2168:0.2666:0.0:0.5166	.	1980	Q8IZT6	ASPM_HUMAN	C	1980	ENSP00000356379:Y1980C	ENSP00000356379:Y1980C	Y	-	2	0	ASPM	195339065	0.000000	0.05858	0.003000	0.11579	0.925000	0.55904	-0.047000	0.11963	0.087000	0.17167	-0.297000	0.09499	TAC		0.388	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ZBTB41	360023	hgsc.bcm.edu	37	1	197157491	197157491	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:197157491A>G	ENST00000367405.4	-	4	1545	c.1477T>C	c.(1477-1479)Tgt>Cgt	p.C493R	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C493R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAATAGGTACACTTAAAAGGT	0.328																																					p.C493R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1477C	1						.						76.0	76.0	76.0					1																	197157491		2202	4300	6502	195424114	SO:0001583	missense	360023	exon4				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1477T>C	1.37:g.197157491A>G	ENSP00000356375:p.Cys493Arg	Somatic		Capture	SOLID	Phase_I	195424114	NM_194314	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416107	0.83449	.	.	ENSG00000177888	ENST00000367405	T	0.59772	0.24	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	U	0.000352	D	0.86653	0.5984	H	0.99475	4.585	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.92561	0.6058	10	0.87932	D	0	.	15.8657	0.79063	1.0:0.0:0.0:0.0	.	493	Q5SVQ8	ZBT41_HUMAN	R	493	ENSP00000356375:C493R	ENSP00000356375:C493R	C	-	1	0	ZBTB41	195424114	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.844000	0.92147	2.207000	0.71202	0.460000	0.39030	TGT		0.328	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314	
LHX9	56956	hgsc.bcm.edu	37	1	197896799	197896799	+	Missense_Mutation	SNP	G	G	A	rs184403189		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:197896799G>A	ENST00000367387.4	+	4	1237	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	LHX9_ENST00000367391.1_Missense_Mutation_p.R262Q|LHX9_ENST00000367390.3_Missense_Mutation_p.R262Q|LHX9_ENST00000337020.2_Missense_Mutation_p.R271Q|LHX9_ENST00000561173.1_Missense_Mutation_p.R277Q	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	271					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R271Q(1)|p.R262Q(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AAGCGCATGCGAACCTCTTTC	0.522																																					p.R271Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G812A	1						.						239.0	233.0	235.0					1																	197896799		2203	4300	6503	196163422	SO:0001583	missense	56956	exon4			AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.812G>A	1.37:g.197896799G>A	ENSP00000356357:p.Arg271Gln	Somatic		Capture	SOLID	Phase_I	196163422	NM_020204	Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493474	0.84962	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49	5.88	5.88	0.94601	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98855	1.0760	10	0.72032	D	0.01	.	20.2441	0.98394	0.0:0.0:1.0:0.0	.	271;262;262	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	Q	262;262;271;271	ENSP00000356361:R262Q;ENSP00000356360:R262Q;ENSP00000337969:R271Q;ENSP00000356357:R271Q	ENSP00000337969:R271Q	R	+	2	0	LHX9	196163422	1.000000	0.71417	0.669000	0.29828	0.128000	0.20619	9.476000	0.97823	2.774000	0.95407	0.655000	0.94253	CGA		0.522	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204	
PTPRC	5788	hgsc.bcm.edu	37	1	198700802	198700802	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:198700802A>G	ENST00000367376.2	+	18	2086	c.1915A>G	c.(1915-1917)Act>Gct	p.T639A	PTPRC_ENST00000594404.1_Missense_Mutation_p.T478A|PTPRC_ENST00000348564.6_Missense_Mutation_p.T480A|PTPRC_ENST00000442510.2_Missense_Mutation_p.T641A|PTPRC_ENST00000352140.3_Missense_Mutation_p.T591A	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	639					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T639A(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTGTTGGAAACTTATAAGAG	0.343																																					p.T478A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1432G	1						.						141.0	139.0	139.0					1																	198700802		2203	4300	6503	196967425	SO:0001583	missense	5788	exon15			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1915A>G	1.37:g.198700802A>G	ENSP00000356346:p.Thr639Ala	Somatic		Capture	SOLID	Phase_I	196967425	NM_080921	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	A	13.04	2.118991	0.37436	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.10668	2.85	5.66	5.66	0.87406	.	0.000000	0.50627	D	0.000118	T	0.12646	0.0307	L	0.46157	1.445	0.46078	D	0.99885	B;B;B;B;B	0.26120	0.021;0.142;0.113;0.067;0.067	B;B;B;B;B	0.29942	0.081;0.109;0.062;0.062;0.062	T	0.10941	-1.0608	10	0.16420	T	0.52	.	15.8896	0.79286	1.0:0.0:0.0:0.0	.	575;575;480;591;639	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	A	641;575;591;591;525;639;573;478	ENSP00000193532:T591A	ENSP00000306782:T478A	T	+	1	0	PTPRC	196967425	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.950000	0.49081	2.135000	0.66039	0.528000	0.53228	ACT		0.343	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
CACNA1S	779	hgsc.bcm.edu	37	1	201018173	201018173	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:201018173A>G	ENST00000362061.3	-	35	4522	c.4296T>C	c.(4294-4296)ccT>ccC	p.P1432P	CACNA1S_ENST00000367338.3_Silent_p.P1413P	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1432					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.P1432P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAAAGCCCAGAGGGGGCTGAA	0.597																																					p.P1432P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4296C	1						.						44.0	41.0	42.0					1																	201018173		2203	4300	6503	199284796	SO:0001819	synonymous_variant	779	exon35			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.4296T>C	1.37:g.201018173A>G		Somatic		Capture	SOLID	Phase_I	199284796	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.597	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
CACNA1S	779	hgsc.bcm.edu	37	1	201081353	201081353	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:201081353G>T	ENST00000362061.3	-	1	341	c.115C>A	c.(115-117)Ccc>Acc	p.P39T	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P39T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	39					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.P39T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCCTCAGGGGGTTCTCCAGG	0.607																																					p.P39T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C115A	1						.						94.0	83.0	87.0					1																	201081353		2203	4300	6503	199347976	SO:0001583	missense	779	exon1			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.115C>A	1.37:g.201081353G>T	ENSP00000355192:p.Pro39Thr	Somatic		Capture	SOLID	Phase_I	199347976	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720291	0.89205	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.53640	0.61;0.61	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	H	0.95079	3.62	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.85433	0.1150	10	0.72032	D	0.01	.	18.7389	0.91767	0.0:0.0:1.0:0.0	.	39	Q13698	CAC1S_HUMAN	T	39	ENSP00000355192:P39T;ENSP00000356307:P39T	ENSP00000355192:P39T	P	-	1	0	CACNA1S	199347976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.254000	0.95512	2.536000	0.85505	0.561000	0.74099	CCC		0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
RNPEP	6051	hgsc.bcm.edu	37	1	201958636	201958636	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:201958636G>T	ENST00000295640.4	+	3	757	c.714G>T	c.(712-714)ctG>ctT	p.L238L	RNPEP_ENST00000471105.1_Intron|RNPEP_ENST00000367286.3_Silent_p.L238L	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	238					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)	p.L238L(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCGGAGATCTGGTTTCGGCTG	0.542																																					p.L238L	GBM(19;39 479 7473 13131 19462)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G714T	1						.						115.0	109.0	111.0					1																	201958636		2203	4300	6503	200225259	SO:0001819	synonymous_variant	6051	exon3			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.714G>T	1.37:g.201958636G>T		Somatic		Capture	SOLID	Phase_I	200225259	NM_020216	Q9BVM9|Q9H1D4|Q9NPT7	Silent	SNP	ENST00000295640.4	37	CCDS1418.1																																																																																				0.542	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216	
FMOD	2331	hgsc.bcm.edu	37	1	203311487	203311487	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:203311487C>T	ENST00000354955.4	-	3	1578	c.1115G>A	c.(1114-1116)aGc>aAc	p.S372N	FMOD_ENST00000493296.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	372					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTCGATGAGGCTGGCAAGGCG	0.637											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S372N												.	.	0			c.G1115A	1						.						33.0	36.0	35.0					1																	203311487		2203	4298	6501	201578110	SO:0001583	missense	2331	exon3			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.1115G>A	1.37:g.203311487C>T	ENSP00000347041:p.Ser372Asn	Somatic	2136	Capture	SOLID	Phase_I	201578110	NM_002023	Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576340	0.28092	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.55052	0.54	5.26	3.3	0.37823	.	0.421437	0.27509	N	0.019050	T	0.34542	0.0901	L	0.36672	1.1	0.25641	N	0.986204	B	0.02656	0.0	B	0.01281	0.0	T	0.19095	-1.0316	10	0.13853	T	0.58	-18.0575	4.9483	0.14000	0.0:0.5809:0.1521:0.267	.	372	Q06828	FMOD_HUMAN	N	359;372	ENSP00000347041:S372N	ENSP00000347041:S372N	S	-	2	0	FMOD	201578110	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.274000	0.33132	0.527000	0.28560	0.462000	0.41574	AGC		0.637	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023	
NFASC	23114	hgsc.bcm.edu	37	1	204942508	204942508	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:204942508C>T	ENST00000401399.1	+	11	1439	c.1240C>T	c.(1240-1242)Cat>Tat	p.H414Y	NFASC_ENST00000403080.1_Missense_Mutation_p.H414Y|NFASC_ENST00000367172.4_Missense_Mutation_p.H414Y|NFASC_ENST00000339876.6_Missense_Mutation_p.H414Y|NFASC_ENST00000367171.4_Missense_Mutation_p.H414Y|NFASC_ENST00000539706.1_Missense_Mutation_p.H425Y|NFASC_ENST00000404076.1_Missense_Mutation_p.H408Y|NFASC_ENST00000404907.1_Missense_Mutation_p.H425Y|NFASC_ENST00000360049.4_Missense_Mutation_p.H425Y|NFASC_ENST00000367170.4_Missense_Mutation_p.H414Y|NFASC_ENST00000338586.6_Missense_Mutation_p.H414Y|NFASC_ENST00000367169.4_Missense_Mutation_p.H414Y|NFASC_ENST00000513543.1_Missense_Mutation_p.H425Y|NFASC_ENST00000338515.6_Missense_Mutation_p.H414Y			O94856	NFASC_HUMAN	neurofascin	414	Ig-like C2-type 4.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.H425Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAACGAGCATGGCTACCT	0.607																																					p.H425Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1273T	1						.						244.0	165.0	192.0					1																	204942508		2203	4300	6503	203209131	SO:0001583	missense	23114	exon10			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1240C>T	1.37:g.204942508C>T	ENSP00000385637:p.His414Tyr	Somatic		Capture	SOLID	Phase_I	203209131	NM_001160331	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604875	0.46423	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.28	5.28	0.74379	.	0.000000	0.56097	D	0.000033	T	0.57814	0.2079	N	0.17838	0.53	0.58432	D	0.999999	B;P;B;P;P;D;B	0.57899	0.098;0.953;0.12;0.672;0.724;0.981;0.08	B;P;B;B;B;P;B	0.52217	0.021;0.483;0.035;0.395;0.16;0.693;0.024	T	0.52837	-0.8522	10	0.15952	T	0.53	.	18.5437	0.91039	0.0:1.0:0.0:0.0	.	425;425;510;414;414;425;414	O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2	.;.;.;.;.;.;.	Y	414;414;414;414;414;414;425;425;425;414;414;408;414;425;425;401	ENSP00000356140:H414Y;ENSP00000356139:H414Y;ENSP00000356138:H414Y;ENSP00000342128:H414Y;ENSP00000344786:H414Y;ENSP00000343509:H414Y;ENSP00000438614:H425Y;ENSP00000353154:H425Y;ENSP00000356137:H414Y;ENSP00000384875:H414Y;ENSP00000385676:H408Y;ENSP00000385637:H414Y;ENSP00000384061:H425Y;ENSP00000425908:H425Y;ENSP00000415031:H401Y	ENSP00000295776:H425Y	H	+	1	0	NFASC	203209131	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.984000	0.70548	2.479000	0.83701	0.655000	0.94253	CAT		0.607	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
DYRK3	8444	hgsc.bcm.edu	37	1	206822215	206822215	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:206822215G>A	ENST00000367109.2	+	3	1840	c.1672G>A	c.(1672-1674)Gtt>Att	p.V558I	DYRK3_ENST00000367106.1_Missense_Mutation_p.V538I|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.V538I	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	558					erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.V558I(1)|p.V523I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GCTGCCTCCAGTTGTTGGAAT	0.458																																					p.V558I	Melanoma(164;427 2622 26826 51707)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1672A	1						.						90.0	81.0	84.0					1																	206822215		2203	4300	6503	204888838	SO:0001583	missense	8444	exon3			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1672G>A	1.37:g.206822215G>A	ENSP00000356076:p.Val558Ile	Somatic		Capture	SOLID	Phase_I	204888838	NM_003582	D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057180	0.76074	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.69306	-0.39;-0.39;-0.39	5.44	5.44	0.79542	.	0.113491	0.64402	D	0.000014	T	0.65238	0.2672	L	0.50333	1.59	0.58432	D	0.999997	P;B	0.39376	0.67;0.045	B;B	0.41860	0.368;0.099	T	0.59931	-0.7361	10	0.20046	T	0.44	.	18.4354	0.90643	0.0:0.0:1.0:0.0	.	558;538	O43781;O43781-2	DYRK3_HUMAN;.	I	558;538;538	ENSP00000356076:V558I;ENSP00000356075:V538I;ENSP00000356073:V538I	ENSP00000356073:V538I	V	+	1	0	DYRK3	204888838	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.222000	0.95196	2.834000	0.97654	0.650000	0.86243	GTT		0.458	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582	
CAMK1G	57172	hgsc.bcm.edu	37	1	209786205	209786205	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:209786205C>T	ENST00000009105.1	+	12	1661	c.1416C>T	c.(1414-1416)gtC>gtT	p.V472V	CAMK1G_ENST00000361322.2_Silent_p.V472V			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	472						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.V472V(1)		breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AGACTGGAGTCTGTCTCATTA	0.522																																					p.V472V	Ovarian(163;530 1939 9680 28669 48710)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1416T	1						.						95.0	91.0	92.0					1																	209786205		2203	4300	6503	207852828	SO:0001819	synonymous_variant	57172	exon12				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.1416C>T	1.37:g.209786205C>T		Somatic		Capture	SOLID	Phase_I	207852828	NM_020439	Q86UH5|Q9Y3J7	Silent	SNP	ENST00000009105.1	37	CCDS1486.1																																																																																				0.522	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439	
KIF17	57576	hgsc.bcm.edu	37	1	21016692	21016692	+	Missense_Mutation	SNP	C	C	T	rs186246358		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:21016692C>T	ENST00000247986.2	-	7	1680	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	KIF17_ENST00000375044.1_Missense_Mutation_p.R357Q|KIF17_ENST00000400463.3_Missense_Mutation_p.R457Q|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	457					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.R457Q(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGTCTCCTTCCGCAGGTTCTC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		15698	0.001		0.0	False		,,,				2504	0.0				p.R457Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1370A	1						.						48.0	43.0	45.0					1																	21016692		2203	4300	6503	20889279	SO:0001583	missense	57576	exon7			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1370G>A	1.37:g.21016692C>T	ENSP00000247986:p.Arg457Gln	Somatic		Capture	SOLID	Phase_I	20889279	NM_001122819	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	CCDS213.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.63	2.889214	0.52014	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.71698	-0.59;-0.47;-0.47	4.87	3.95	0.45737	.	0.000000	0.28754	U	0.014252	T	0.63792	0.2541	L	0.59436	1.845	0.09310	N	0.999993	B;B	0.26195	0.144;0.12	B;B	0.20955	0.032;0.01	T	0.51834	-0.8655	10	0.26408	T	0.33	.	11.9021	0.52690	0.1741:0.8259:0.0:0.0	.	457;457	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	Q	357;457;457	ENSP00000364184:R357Q;ENSP00000383311:R457Q;ENSP00000247986:R457Q	ENSP00000247986:R457Q	R	-	2	0	KIF17	20889279	1.000000	0.71417	0.999000	0.59377	0.764000	0.43329	2.490000	0.45294	1.026000	0.39733	0.491000	0.48974	CGG		0.597	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	
SYT14	255928	hgsc.bcm.edu	37	1	210273606	210273606	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:210273606C>A	ENST00000472886.1	+	6	978	c.964C>A	c.(964-966)Cct>Act	p.P322T	SYT14_ENST00000367019.1_Missense_Mutation_p.P322T|SYT14_ENST00000534859.1_Missense_Mutation_p.P322T|SYT14_ENST00000367015.1_Missense_Mutation_p.P284T|SYT14_ENST00000537238.1_Missense_Mutation_p.P284T|SYT14_ENST00000422431.1_Missense_Mutation_p.P367T|SYT14_ENST00000399639.2_Missense_Mutation_p.P322T|SYT14_ENST00000271745.7_Intron			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	322	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.P322T(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AGGACCATGCCCTGTCTTCAC	0.388																																					p.P322T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C964A	1						.						86.0	77.0	80.0					1																	210273606		2203	4300	6503	208340229	SO:0001583	missense	255928	exon6			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.964C>A	1.37:g.210273606C>A	ENSP00000418901:p.Pro322Thr	Somatic		Capture	SOLID	Phase_I	208340229	NM_153262	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435195	0.83885	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	D;D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.97	5.97	0.96955	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.052997	0.85682	D	0.000000	D	0.95974	0.8689	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.994	D;D;D;D	0.83275	0.987;0.987;0.996;0.943	D	0.95717	0.8763	10	0.87932	D	0	-12.876	20.4251	0.99070	0.0:1.0:0.0:0.0	.	350;322;322;367	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	T	367;322;322;284;322;322;284	ENSP00000389039:P367T;ENSP00000442891:P322T;ENSP00000445837:P322T;ENSP00000437423:P284T;ENSP00000355986:P322T;ENSP00000418901:P322T;ENSP00000355982:P284T	ENSP00000355982:P284T	P	+	1	0	SYT14	208340229	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.118000	0.77137	2.829000	0.97493	0.650000	0.86243	CCT		0.388	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262	
ANGEL2	90806	hgsc.bcm.edu	37	1	213178540	213178540	+	Silent	SNP	C	C	T	rs148141428		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:213178540C>T	ENST00000366962.3	-	5	1123	c.969G>A	c.(967-969)acG>acA	p.T323T	ANGEL2_ENST00000535388.1_Silent_p.T154T|ANGEL2_ENST00000360506.2_Silent_p.T154T|ANGEL2_ENST00000540642.1_Silent_p.T197T|ANGEL2_ENST00000473303.1_5'Flank|ANGEL2_ENST00000544555.1_Silent_p.T154T	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	323								p.T323T(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTGCCAATTGCGTCAGCTTAA	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21019	0.0		0.0	False		,,,				2504	0.0				p.T323T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G969A	1						.	C		4,4402	9.9+/-24.2	0,4,2199	130.0	114.0	119.0		969	2.4	1.0	1	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	ANGEL2	NM_144567.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		323/545	213178540	4,13002	2203	4300	6503	211245163	SO:0001819	synonymous_variant	90806	exon5			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.969G>A	1.37:g.213178540C>T		Somatic		Capture	SOLID	Phase_I	211245163	NM_144567	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	CCDS1512.1																																																																																				0.458	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567	
PROX1	5629	hgsc.bcm.edu	37	1	214170084	214170084	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:214170084T>A	ENST00000366958.4	+	2	814	c.206T>A	c.(205-207)gTa>gAa	p.V69E	PROX1_ENST00000261454.4_Missense_Mutation_p.V69E|PROX1_ENST00000498508.2_Missense_Mutation_p.V69E|PROX1_ENST00000435016.1_Missense_Mutation_p.V69E	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	69					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.V69E(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAGTCAAATGTACTCCGCAAG	0.458																																					p.V69E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T206A	1						.						93.0	87.0	89.0					1																	214170084		2203	4300	6503	212236707	SO:0001583	missense	5629	exon2			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.206T>A	1.37:g.214170084T>A	ENSP00000355925:p.Val69Glu	Somatic		Capture	SOLID	Phase_I	212236707	NM_002763	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401963	0.62288	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.28808	-1.0032	10	0.72032	D	0.01	-3.3628	16.3948	0.83586	0.0:0.0:0.0:1.0	.	69	Q92786	PROX1_HUMAN	E	69	ENSP00000419517:V69E;ENSP00000420283:V69E;ENSP00000355925:V69E;ENSP00000400694:V69E;ENSP00000261454:V69E	ENSP00000261454:V69E	V	+	2	0	PROX1	212236707	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.655000	0.83696	2.326000	0.78906	0.533000	0.62120	GTA		0.458	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763	
CENPF	1063	hgsc.bcm.edu	37	1	214819293	214819293	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:214819293G>A	ENST00000366955.3	+	13	6548	c.6380G>A	c.(6379-6381)cGc>cAc	p.R2127H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2223	Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.R2127H(2)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTGAGAGTTCGCATTGAGGCC	0.498																																					p.R2127H	Colon(80;575 1284 11000 14801 43496)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6380A	1						.						64.0	62.0	63.0					1																	214819293		2203	4300	6503	212885916	SO:0001583	missense	1063	exon13			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6380G>A	1.37:g.214819293G>A	ENSP00000355922:p.Arg2127His	Somatic		Capture	SOLID	Phase_I	212885916	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049325	0.55218	.	.	ENSG00000117724	ENST00000366955	T	0.06933	3.24	5.3	3.43	0.39272	.	0.000000	0.38164	N	0.001799	T	0.06872	0.0175	L	0.58669	1.825	0.28702	N	0.904028	P	0.46395	0.877	B	0.32022	0.139	T	0.25398	-1.0133	10	0.40728	T	0.16	.	7.4507	0.27237	0.287:0.0:0.713:0.0	.	2223	P49454	CENPF_HUMAN	H	2127	ENSP00000355922:R2127H	ENSP00000355922:R2127H	R	+	2	0	CENPF	212885916	1.000000	0.71417	0.965000	0.40720	0.718000	0.41266	2.951000	0.49089	1.246000	0.43901	0.609000	0.83330	CGC		0.498	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
USH2A	7399	hgsc.bcm.edu	37	1	215820913	215820913	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:215820913C>T	ENST00000307340.3	-	67	15128	c.14742G>A	c.(14740-14742)gaG>gaA	p.E4914E	USH2A_ENST00000366943.2_Silent_p.E4914E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4914	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.E4914E(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTGCCCACCTCGTTGTGTG	0.527										HNSCC(13;0.011)																											p.E4914E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G14742A	1						.						97.0	80.0	86.0					1																	215820913		2203	4300	6503	213887536	SO:0001819	synonymous_variant	7399	exon67			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14742G>A	1.37:g.215820913C>T		Somatic		Capture	SOLID	Phase_I	213887536	NM_206933	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.527	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
GPATCH2	55105	hgsc.bcm.edu	37	1	217793327	217793327	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:217793327G>A	ENST00000366935.3	-	2	681	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	GPATCH2_ENST00000366934.3_Nonsense_Mutation_p.Q191*	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	191					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.Q191*(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCCATGTCCTGATCTCTACAA	0.433																																					p.Q191X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C571T	1						.						220.0	203.0	209.0					1																	217793327		2203	4300	6503	215859950	SO:0001587	stop_gained	55105	exon2			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.571C>T	1.37:g.217793327G>A	ENSP00000355902:p.Gln191*	Somatic		Capture	SOLID	Phase_I	215859950	NM_018040	Q5VYK7|Q5VYK8|Q86YE7	Nonsense_Mutation	SNP	ENST00000366935.3	37	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	G	37	6.473339	0.97594	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	.	.	.	5.84	5.84	0.93424	.	0.207502	0.51477	D	0.000084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-20.5692	20.1434	0.98067	0.0:0.0:1.0:0.0	.	.	.	.	X	191	.	ENSP00000355901:Q191X	Q	-	1	0	GPATCH2	215859950	1.000000	0.71417	0.925000	0.36789	0.983000	0.72400	8.757000	0.91657	2.760000	0.94817	0.591000	0.81541	CAG		0.433	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040	
GPATCH2	55105	hgsc.bcm.edu	37	1	217793654	217793654	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:217793654A>G	ENST00000366935.3	-	2	354	c.244T>C	c.(244-246)Tgg>Cgg	p.W82R	GPATCH2_ENST00000366934.3_Missense_Mutation_p.W82R	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	82					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.W82R(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CCAGTCTCCCACGGGTGATGC	0.433																																					p.W82R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T244C	1						.						111.0	97.0	102.0					1																	217793654		2203	4300	6503	215860277	SO:0001583	missense	55105	exon2			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.244T>C	1.37:g.217793654A>G	ENSP00000355902:p.Trp82Arg	Somatic		Capture	SOLID	Phase_I	215860277	NM_018040	Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.095483	0.56075	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.49139	1.39;0.79	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67473	-0.5662	10	0.51188	T	0.08	.	15.5185	0.75846	1.0:0.0:0.0:0.0	.	82;82	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	R	82	ENSP00000355902:W82R;ENSP00000355901:W82R	ENSP00000355901:W82R	W	-	1	0	GPATCH2	215860277	1.000000	0.71417	0.911000	0.35937	0.346000	0.29079	7.106000	0.77039	2.066000	0.61787	0.482000	0.46254	TGG		0.433	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040	
SPATA17	128153	hgsc.bcm.edu	37	1	217804728	217804728	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:217804728C>T	ENST00000366933.4	+	1	63	c.8C>T	c.(7-9)aCg>aTg	p.T3M	GPATCH2_ENST00000366935.3_5'Flank|GPATCH2_ENST00000366934.3_5'Flank	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	3						cytoplasm (GO:0005737)		p.T3M(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ACCATGGCCACGTTAGCCCGG	0.527																																					p.T3M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8T	1						.						89.0	78.0	82.0					1																	217804728		2203	4300	6503	215871351	SO:0001583	missense	128153	exon1			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.8C>T	1.37:g.217804728C>T	ENSP00000355900:p.Thr3Met	Somatic		Capture	SOLID	Phase_I	215871351	NM_138796	A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564922	0.65651	.	.	ENSG00000162814	ENST00000366933	T	0.47869	0.83	4.47	4.47	0.54385	.	0.449335	0.24039	N	0.042101	T	0.61098	0.2320	L	0.56769	1.78	0.33463	D	0.585239	D	0.89917	1.0	P	0.61800	0.894	T	0.72246	-0.4349	10	0.62326	D	0.03	-16.9161	14.3534	0.66719	0.0:1.0:0.0:0.0	.	3	Q96L03	SPT17_HUMAN	M	3	ENSP00000355900:T3M	ENSP00000355900:T3M	T	+	2	0	SPATA17	215871351	0.989000	0.36119	0.984000	0.44739	0.699000	0.40488	3.314000	0.51943	2.473000	0.83533	0.655000	0.94253	ACG		0.527	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796	
EPRS	2058	hgsc.bcm.edu	37	1	220203736	220203736	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:220203736C>A	ENST00000366923.3	-	6	884	c.615G>T	c.(613-615)gaG>gaT	p.E205D		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	205	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.E205D(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ACCCACTGGCCTCTGGAGGAA	0.363																																					p.E205D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G615T	1						.						75.0	75.0	75.0					1																	220203736		2203	4300	6503	218270359	SO:0001583	missense	2058	exon6			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.615G>T	1.37:g.220203736C>A	ENSP00000355890:p.Glu205Asp	Somatic		Capture	SOLID	Phase_I	218270359	NM_004446	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202514	0.79127	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.24538	1.85	5.83	2.96	0.34315	Aminoacyl-tRNA synthetase, class I, conserved site (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70960	-0.4730	10	0.72032	D	0.01	-32.4985	9.4878	0.38940	0.0:0.705:0.0:0.295	.	205;205	Q3KQZ8;P07814	.;SYEP_HUMAN	D	205	ENSP00000355890:E205D	ENSP00000355890:E205D	E	-	3	2	EPRS	218270359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.839000	0.27586	0.817000	0.34445	0.655000	0.94253	GAG		0.363	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
RAB3GAP2	25782	hgsc.bcm.edu	37	1	220346055	220346055	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:220346055C>A	ENST00000358951.2	-	22	2456	c.2340G>T	c.(2338-2340)aaG>aaT	p.K780N		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	780					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.K780N(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TATCCTTTTCCTTTGAAAGCC	0.358																																					p.K780N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2340T	1						.						112.0	101.0	105.0					1																	220346055		2203	4300	6503	218412678	SO:0001583	missense	25782	exon22			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2340G>T	1.37:g.220346055C>A	ENSP00000351832:p.Lys780Asn	Somatic		Capture	SOLID	Phase_I	218412678	NM_012414	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485150	0.44147	.	.	ENSG00000118873	ENST00000358951	T	0.35236	1.32	5.69	3.5	0.40072	.	0.153474	0.64402	D	0.000019	T	0.28566	0.0707	L	0.46157	1.445	0.51233	D	0.999914	B	0.23058	0.079	B	0.17433	0.018	T	0.07986	-1.0744	10	0.33141	T	0.24	.	9.1034	0.36683	0.0:0.6763:0.0:0.3237	.	780	Q9H2M9	RBGPR_HUMAN	N	780	ENSP00000351832:K780N	ENSP00000351832:K780N	K	-	3	2	RAB3GAP2	218412678	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.573000	0.23699	1.404000	0.46819	-0.136000	0.14681	AAG		0.358	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	
USP48	84196	hgsc.bcm.edu	37	1	22032327	22032327	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:22032327C>T	ENST00000308271.9	-	19	2925	c.2277G>A	c.(2275-2277)aaG>aaA	p.K759K	USP48_ENST00000529637.1_Silent_p.K771K|USP48_ENST00000400301.1_Silent_p.K759K|USP48_ENST00000374732.3_Silent_p.K297K	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	759	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.K759K(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ATCTTGTAGGCTTTCTACTCA	0.378																																					p.K759K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2277A	1						.						61.0	64.0	63.0					1																	22032327		2203	4300	6503	21904914	SO:0001819	synonymous_variant	84196	exon19			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2277G>A	1.37:g.22032327C>T		Somatic		Capture	SOLID	Phase_I	21904914	NM_032236	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	CCDS30623.1																																																																																				0.378	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236	
HSPG2	3339	hgsc.bcm.edu	37	1	22201200	22201200	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:22201200C>T	ENST00000374695.3	-	27	3516	c.3437G>A	c.(3436-3438)cGc>cAc	p.R1146H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1146	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.R1146H(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACTGGGCGTGCGTGTGTAGCC	0.632																																					p.R1146H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3437A	1						.						38.0	41.0	40.0					1																	22201200		2203	4299	6502	22073787	SO:0001583	missense	3339	exon27			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3437G>A	1.37:g.22201200C>T	ENSP00000363827:p.Arg1146His	Somatic		Capture	SOLID	Phase_I	22073787	NM_005529	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075419	0.94000	.	.	ENSG00000142798	ENST00000374695	T	0.64260	-0.09	5.02	5.02	0.67125	EGF-like, laminin (2);	0.000000	0.40554	N	0.001069	D	0.82568	0.5065	M	0.90595	3.13	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	D	0.86130	0.1574	10	0.62326	D	0.03	.	15.8361	0.78799	0.0:1.0:0.0:0.0	.	1146	P98160	PGBM_HUMAN	H	1146	ENSP00000363827:R1146H	ENSP00000363827:R1146H	R	-	2	0	HSPG2	22073787	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.273000	0.78527	2.347000	0.79759	0.505000	0.49811	CGC		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
MARC1	64757	hgsc.bcm.edu	37	1	220971260	220971260	+	Silent	SNP	G	G	A	rs367747861		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:220971260G>A	ENST00000366910.5	+	4	843	c.657G>A	c.(655-657)gcG>gcA	p.A219A	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	219	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)	p.A219A(1)									TTTCTGAGGCGTCGCTGGCGG	0.433																																					p.A219A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G657A	1						.	G		0,4406		0,0,2203	123.0	117.0	119.0		657	-9.6	0.0	1		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MOSC1	NM_022746.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		219/338	220971260	1,13005	2203	4300	6503	219037883	SO:0001819	synonymous_variant	64757	exon4			AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"""MOCO sulphurase C-terminal domain containing 1"""	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.657G>A	1.37:g.220971260G>A		Somatic		Capture	SOLID	Phase_I	219037883	NM_022746	A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Silent	SNP	ENST00000366910.5	37	CCDS1526.1	.	.	.	.	.	.	.	.	.	.	G	0.056	-1.236466	0.01505	0.0	1.16E-4	ENSG00000186205	ENST00000407981	.	.	.	4.82	-9.64	0.00541	.	.	.	.	.	T	0.34658	0.0905	.	.	.	0.44439	D	0.997365	.	.	.	.	.	.	T	0.49204	-0.8964	4	.	.	.	-2.6326	2.4078	0.04417	0.1893:0.1483:0.3678:0.2946	.	.	.	.	I	128	.	.	V	+	1	0	MOSC1	219037883	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.321000	0.00513	-3.787000	0.00107	-2.155000	0.00331	GTC		0.433	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746	
DISP1	84976	hgsc.bcm.edu	37	1	223178729	223178729	+	Silent	SNP	G	G	A	rs370266646		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:223178729G>A	ENST00000284476.6	+	8	4154	c.3990G>A	c.(3988-3990)acG>acA	p.T1330T		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1330					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.T1330T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCCCATCACGCACATCCACC	0.557																																					p.T1330T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3990A	1						.						62.0	57.0	58.0					1																	223178729		2203	4300	6503	221245352	SO:0001819	synonymous_variant	84976	exon8			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3990G>A	1.37:g.223178729G>A		Somatic		Capture	SOLID	Phase_I	221245352	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	CCDS1536.1																																																																																				0.557	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
NVL	4931	hgsc.bcm.edu	37	1	224491532	224491532	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:224491532G>A	ENST00000281701.6	-	9	1112	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	NVL_ENST00000340871.4_Missense_Mutation_p.R69C|NVL_ENST00000391875.2_Missense_Mutation_p.R179C|NVL_ENST00000361463.3_Missense_Mutation_p.R179C|NVL_ENST00000482491.1_5'UTR|NVL_ENST00000469075.1_Missense_Mutation_p.R194C|RNU6-1008P_ENST00000384160.1_RNA	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	285						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R285C(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TCCGGGTGACGCATGTGTATG	0.493																																					p.R285C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C853T	1						.						79.0	73.0	75.0					1																	224491532		2203	4300	6503	222558155	SO:0001583	missense	4931	exon9			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.853C>T	1.37:g.224491532G>A	ENSP00000281701:p.Arg285Cys	Somatic		Capture	SOLID	Phase_I	222558155	NM_002533	B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	CCDS1541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.93|15.93	2.977097|2.977097	0.53720|0.53720	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000469968|ENST00000281701;ENST00000391875;ENST00000469075;ENST00000340871;ENST00000361463	.|T;T;T;T;T	.|0.79845	.|-1.31;-1.31;-1.31;-1.31;-1.31	4.96|4.96	3.1|3.1	0.35709|0.35709	.|.	.|0.054416	.|0.64402	.|D	.|0.000001	D|D	0.86100|0.86100	0.5852|0.5852	M|M	0.68728|0.68728	2.09|2.09	0.80722|0.80722	D|D	1|1	.|B;B;D	.|0.89917	.|0.155;0.155;1.0	.|B;B;D	.|0.66351	.|0.027;0.018;0.943	D|D	0.85158|0.85158	0.0990|0.0990	6|10	0.08837|0.59425	T|D	0.75|0.04	-1.9827|-1.9827	10.8215|10.8215	0.46608|0.46608	0.1525:0.0:0.8475:0.0|0.1525:0.0:0.8475:0.0	.|.	.|69;194;285	.|B4DMC4;B4DP98;O15381	.|.;.;NVL_HUMAN	V|C	167|285;179;194;69;179	.|ENSP00000281701:R285C;ENSP00000375747:R179C;ENSP00000417826:R194C;ENSP00000341362:R69C;ENSP00000354779:R179C	ENSP00000419930:A259V|ENSP00000281701:R285C	A|R	-|-	2|1	0|0	NVL|NVL	222558155|222558155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.031000|7.031000	0.76491|0.76491	0.520000|0.520000	0.28426|0.28426	0.491000|0.491000	0.48974|0.48974	GCG|CGT		0.493	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533	
EPHX1	2052	hgsc.bcm.edu	37	1	226032978	226032978	+	Missense_Mutation	SNP	C	C	T	rs373221599		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:226032978C>T	ENST00000366837.4	+	9	1494	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	EPHX1_ENST00000272167.5_Missense_Mutation_p.A433V|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	433					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.A433V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GGCCACTTTGCGGCCTTTGAG	0.602																																					p.A433V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1298T	1						.	C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	54.0	54.0	54.0		1298,1298	5.1	0.9	1		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EPHX1	NM_000120.3,NM_001136018.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	433/456,433/456	226032978	1,13005	2203	4300	6503	224099601	SO:0001583	missense	2052	exon9			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1298C>T	1.37:g.226032978C>T	ENSP00000355802:p.Ala433Val	Somatic		Capture	SOLID	Phase_I	224099601	NM_001136018	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162827	0.78226	0.0	1.16E-4	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.43294	0.95;0.95	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.83420	0.0032	10	0.72032	D	0.01	-26.8703	17.8818	0.88842	0.0:1.0:0.0:0.0	.	433	P07099	HYEP_HUMAN	V	433	ENSP00000272167:A433V;ENSP00000355802:A433V	ENSP00000272167:A433V	A	+	2	0	EPHX1	224099601	1.000000	0.71417	0.893000	0.35052	0.162000	0.22319	5.900000	0.69853	2.538000	0.85594	0.462000	0.41574	GCG		0.602	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120	
LEFTY2	7044	hgsc.bcm.edu	37	1	226125288	226125288	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:226125288G>T	ENST00000366820.5	-	4	1302	c.954C>A	c.(952-954)gcC>gcA	p.A318A	RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000420304.2_Silent_p.A284A|LEFTY2_ENST00000474493.1_5'Flank	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	318					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CAGTCTCCGAGGCGATACACT	0.652																																					p.A284A	Colon(172;116 2643 9098 43333)											.	.	0			c.C852A	1						.						35.0	35.0	35.0					1																	226125288		2203	4300	6503	224191911	SO:0001819	synonymous_variant	7044	exon5			U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.954C>A	1.37:g.226125288G>T		Somatic		Capture	SOLID	Phase_I	224191911	NM_001172425	B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	ENST00000366820.5	37	CCDS1549.1																																																																																				0.652	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240	
C1QC	714	hgsc.bcm.edu	37	1	22974029	22974029	+	Missense_Mutation	SNP	G	G	A	rs267598409		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:22974029G>A	ENST00000374639.3	+	3	609	c.491G>A	c.(490-492)gGc>gAc	p.G164D	C1QC_ENST00000374637.1_Missense_Mutation_p.G164D|C1QC_ENST00000374640.4_Missense_Mutation_p.G164D	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	164	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G164D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAAGTCCCCGGCCTCTACTAC	0.592																																					p.G164D	Ovarian(26;671 750 8290 29071 43278)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G491A	1						.						85.0	77.0	80.0					1																	22974029		2203	4300	6503	22846616	SO:0001583	missense	714	exon3			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.491G>A	1.37:g.22974029G>A	ENSP00000363770:p.Gly164Asp	Somatic		Capture	SOLID	Phase_I	22846616	NM_172369	Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	ENST00000374639.3	37	CCDS227.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936006	0.92458	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	D;D;D	0.96856	-4.15;-4.15;-4.15	4.74	4.74	0.60224	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99793	1.1032	10	0.87932	D	0	.	16.2806	0.82678	0.0:0.0:1.0:0.0	.	164	P02747	C1QC_HUMAN	D	164	ENSP00000363771:G164D;ENSP00000363770:G164D;ENSP00000363768:G164D	ENSP00000363768:G164D	G	+	2	0	C1QC	22846616	1.000000	0.71417	0.987000	0.45799	0.959000	0.62525	9.869000	0.99810	2.172000	0.68678	0.561000	0.74099	GGC		0.592	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369	
CDC42BPA	8476	hgsc.bcm.edu	37	1	227330670	227330670	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:227330670A>G	ENST00000366769.3	-	9	2490	c.1199T>C	c.(1198-1200)gTt>gCt	p.V400A	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.V400A|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.V400A|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.V400A|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.V400A|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.V400A|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.V400A	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.V400A(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TGTAAAACCAACAAATGGCAG	0.428																																					p.V400A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1199C	1						.						76.0	75.0	75.0					1																	227330670		2203	4300	6503	225397293	SO:0001583	missense	8476	exon9			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1199T>C	1.37:g.227330670A>G	ENSP00000355731:p.Val400Ala	Somatic		Capture	SOLID	Phase_I	225397293	NM_014826		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.007021	0.93287	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75686	0.3883	M	0.87971	2.92	0.80722	D	1	D;D;D;D	0.67145	0.996;0.994;0.977;0.987	D;P;P;P	0.68943	0.961;0.889;0.815;0.904	T	0.80830	-0.1207	10	0.87932	D	0	.	15.8471	0.78901	1.0:0.0:0.0:0.0	.	400;400;400;400	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	A	400	ENSP00000355731:V400A;ENSP00000355729:V400A;ENSP00000335341:V400A;ENSP00000355728:V400A;ENSP00000355726:V400A;ENSP00000443275:V400A;ENSP00000355727:V400A	ENSP00000335341:V400A	V	-	2	0	CDC42BPA	225397293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.861000	0.75478	2.157000	0.67596	0.477000	0.44152	GTT		0.428	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
CAPN9	10753	hgsc.bcm.edu	37	1	230914798	230914798	+	Missense_Mutation	SNP	G	G	A	rs145648359	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:230914798G>A	ENST00000271971.2	+	9	1146	c.1033G>A	c.(1033-1035)Gcg>Acg	p.A345T	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.A319T|RP11-99J16__A.2_ENST00000452640.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.A282T	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	345	Domain III.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.A319T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGAGGAAGACGCGATCCACAA	0.577													G|||	7	0.00139776	0.0	0.0	5008	,	,		16239	0.0		0.0	False		,,,				2504	0.0072				p.A319T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G955A	1						.	G	THR/ALA,THR/ALA	4,4402	8.1+/-20.4	0,4,2199	84.0	71.0	75.0		1033,955	-2.6	0.0	1	dbSNP_134	75	0,8600		0,0,4300	yes	missense,missense	CAPN9	NM_006615.2,NM_016452.1	58,58	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign	345/691,319/665	230914798	4,13002	2203	4300	6503	228981421	SO:0001583	missense	10753	exon8			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1033G>A	1.37:g.230914798G>A	ENSP00000271971:p.Ala345Thr	Somatic		Capture	SOLID	Phase_I	228981421	NM_016452	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	0.678	-0.799307	0.02841	9.08E-4	0.0	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	T;T;T	0.15952	2.38;2.38;2.38	5.24	-2.63	0.06133	Peptidase C2, calpain, catalytic domain (1);	0.446021	0.27455	N	0.019297	T	0.06600	0.0169	N	0.10733	0.035	0.22620	N	0.998922	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.001	T	0.40403	-0.9565	10	0.11485	T	0.65	.	11.9229	0.52801	0.5965:0.0:0.4035:0.0	.	282;319;345	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	T	345;319;282	ENSP00000271971:A345T;ENSP00000346538:A319T;ENSP00000355626:A282T	ENSP00000271971:A345T	A	+	1	0	CAPN9	228981421	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.274000	0.18680	-0.278000	0.09180	-0.244000	0.11960	GCG		0.577	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615	
CHML	1122	hgsc.bcm.edu	37	1	241798757	241798757	+	Silent	SNP	G	G	A	rs113330678	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:241798757G>A	ENST00000366553.1	-	1	475	c.312C>T	c.(310-312)taC>taT	p.Y104Y	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	104					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.Y104Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCTGACTGGCGTAGCAAAAAG	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20719	0.0		0.0	False		,,,				2504	0.0				p.Y104Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C312T	1						.	G	,	1,4405	2.1+/-5.4	0,1,2202	189.0	191.0	191.0		312,	-2.3	1.0	1	dbSNP_132	191	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,intron	CHML,OPN3	NM_001821.3,NM_014322.2	,	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	,	104/657,	241798757	2,13000	2203	4298	6501	239865380	SO:0001819	synonymous_variant	1122	exon1			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.312C>T	1.37:g.241798757G>A		Somatic		Capture	SOLID	Phase_I	239865380	NM_001821	B2RAB9|Q17RE0|Q9H1Y4	Silent	SNP	ENST00000366553.1	37	CCDS31073.1																																																																																				0.438	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821	
CEP104	9731	hgsc.bcm.edu	37	1	3732046	3732046	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:3732046C>G	ENST00000378230.3	-	22	3022	c.2698G>C	c.(2698-2700)Ggg>Cgg	p.G900R		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	900						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.G900R(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCCTTTGACCCCAAGGGGCCT	0.647																																					p.G900R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2698C	1						.						60.0	53.0	55.0					1																	3732046		2203	4300	6503	3721906	SO:0001583	missense	9731	exon22			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2698G>C	1.37:g.3732046C>G	ENSP00000367476:p.Gly900Arg	Somatic		Capture	SOLID	Phase_I	3721906	NM_014704	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349469	0.41599	.	.	ENSG00000116198	ENST00000378230	T	0.32272	1.46	4.96	4.96	0.65561	.	0.434154	0.20464	N	0.091823	T	0.32852	0.0843	L	0.57536	1.79	0.58432	D	0.999999	B	0.21606	0.058	B	0.21546	0.035	T	0.12656	-1.0539	10	0.54805	T	0.06	.	13.6964	0.62582	0.0:1.0:0.0:0.0	.	900	O60308	CE104_HUMAN	R	900	ENSP00000367476:G900R	ENSP00000367476:G900R	G	-	1	0	CEP104	3721906	0.013000	0.17824	0.007000	0.13788	0.047000	0.14425	2.544000	0.45761	2.273000	0.75805	0.462000	0.41574	GGG		0.647	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
CHD5	26038	hgsc.bcm.edu	37	1	6196615	6196615	+	Silent	SNP	C	C	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:6196615C>G	ENST00000262450.3	-	17	2757	c.2658G>C	c.(2656-2658)ctG>ctC	p.L886L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGAGATGGAACAGCTCCTCCA	0.547																																					p.L886L												.	.	0			c.G2658C	1						.						81.0	88.0	86.0					1																	6196615		2203	4300	6503	6119202	SO:0001819	synonymous_variant	26038	exon17			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2658G>C	1.37:g.6196615C>G		Somatic		Capture	SOLID	Phase_I	6119202	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	CCDS57.1																																																																																				0.547	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
VAMP3	9341	hgsc.bcm.edu	37	1	7837309	7837309	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:7837309G>T	ENST00000054666.6	+	3	277	c.162G>T	c.(160-162)caG>caT	p.Q54H	VAMP3_ENST00000470357.1_Missense_Mutation_p.Q26H|RP3-467L1.6_ENST00000602406.1_RNA	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	54	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)		p.Q54H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ACGCACTGCAGGCAGGCGCTT	0.453																																					p.Q54H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G162T	1						.						83.0	81.0	82.0					1																	7837309		2203	4300	6503	7759896	SO:0001583	missense	9341	exon3			BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.162G>T	1.37:g.7837309G>T	ENSP00000054666:p.Gln54His	Somatic		Capture	SOLID	Phase_I	7759896	NM_004781	Q9BRV4	Missense_Mutation	SNP	ENST00000054666.6	37	CCDS88.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753199	0.69648	.	.	ENSG00000049245	ENST00000054666	T	0.48522	0.81	6.17	3.01	0.34805	Synaptobrevin (3);	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	M	0.85099	2.735	0.58432	D	0.999998	P	0.36587	0.559	B	0.43274	0.414	T	0.54977	-0.8212	10	0.56958	D	0.05	0.0251	5.1877	0.15193	0.5153:0.0:0.4847:0.0	.	54	Q15836	VAMP3_HUMAN	H	54	ENSP00000054666:Q54H	ENSP00000054666:Q54H	Q	+	3	2	VAMP3	7759896	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.232000	0.32636	0.953000	0.37825	0.655000	0.94253	CAG		0.453	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781	
TNFRSF9	3604	hgsc.bcm.edu	37	1	7998829	7998829	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:7998829A>G	ENST00000377507.3	-	3	326	c.160T>C	c.(160-162)Tcc>Ccc	p.S54P		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	54					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.S54P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCGCTGGAGAAACTATTT	0.418																																					p.S54P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T160C	1						.						180.0	175.0	177.0					1																	7998829		2203	4300	6503	7921416	SO:0001583	missense	3604	exon4			L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.160T>C	1.37:g.7998829A>G	ENSP00000366729:p.Ser54Pro	Somatic		Capture	SOLID	Phase_I	7921416	NM_001561		Missense_Mutation	SNP	ENST00000377507.3	37	CCDS92.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.194283	0.58017	.	.	ENSG00000049249	ENST00000377507	D	0.97352	-4.35	5.39	4.26	0.50523	TNFR/CD27/30/40/95 cysteine-rich region (3);	0.196676	0.43919	D	0.000508	D	0.96987	0.9016	L	0.47190	1.495	0.37905	D	0.931187	D	0.89917	1.0	D	0.79784	0.993	D	0.96619	0.9458	10	0.49607	T	0.09	-27.6383	8.1731	0.31266	0.9084:0.0:0.0916:0.0	.	54	Q07011	TNR9_HUMAN	P	54	ENSP00000366729:S54P	ENSP00000366729:S54P	S	-	1	0	TNFRSF9	7921416	1.000000	0.71417	0.837000	0.33122	0.540000	0.34992	2.661000	0.46758	0.993000	0.38866	0.460000	0.39030	TCC		0.418	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1		
SLC45A1	50651	hgsc.bcm.edu	37	1	8386014	8386014	+	Silent	SNP	G	G	A	rs375786666		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:8386014G>A	ENST00000471889.1	+	4	1012	c.627G>A	c.(625-627)tcG>tcA	p.S209S	SLC45A1_ENST00000289877.8_Silent_p.S209S|SLC45A1_ENST00000377479.2_Silent_p.S243S|Y_RNA_ENST00000516445.1_RNA			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	209					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.S209S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCGACTCGGCGGACAACC	0.657																																					p.S209S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G627A	1						.						95.0	87.0	90.0					1																	8386014		2203	4300	6503	8308601	SO:0001819	synonymous_variant	50651	exon3			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.627G>A	1.37:g.8386014G>A		Somatic		Capture	SOLID	Phase_I	8308601	NM_001080397	Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	CCDS30577.1																																																																																				0.657	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5		
SLC2A7	155184	hgsc.bcm.edu	37	1	9079299	9079299	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:9079299G>A	ENST00000400906.1	-	4	404	c.405C>T	c.(403-405)gtC>gtT	p.V135V		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	135			V -> I (in dbSNP:rs34545462).		carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.V135V(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CTCGGGAAAAGACGATCAGCT	0.582																																					p.V135V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C405T	1						.						73.0	66.0	69.0					1																	9079299		2203	4300	6503	9001886	SO:0001819	synonymous_variant	155184	exon4			AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.405C>T	1.37:g.9079299G>A		Somatic		Capture	SOLID	Phase_I	9001886	NM_207420	A2A333	Silent	SNP	ENST00000400906.1	37	CCDS98.2																																																																																				0.582	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420	
RCC2	55920	hgsc.bcm.edu	37	1	17749288	17749289	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	CT	CT	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:17749288_17749289delCT	ENST00000375436.4	-	5	754_755	c.567_568delAG	c.(565-570)agagtafs	p.RV189fs	RCC2_ENST00000375433.3_Frame_Shift_Del_p.RV189fs	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	189					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)	p.R189fs*5(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GGGGCTTCTACTCTCTTGGTGT	0.559																																					p.189_190del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.567_568del	1						.																																			17621876	SO:0001589	frameshift_variant	55920	exon4				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.567_568delAG	1.37:g.17749292_17749293delCT	ENSP00000364585:p.Arg189fs	Somatic		Capture	SOLID	Phase_I	17621875	NM_001136204	Q8IVL9|Q9BSN6|Q9NPV8	Frame_Shift_Del	DEL	ENST00000375436.4	37	CCDS181.1																																																																																				0.559	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715	
CEP85	64793	hgsc.bcm.edu	37	1	26566287	26566287	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:26566287G>A	ENST00000252992.4	+	2	144	c.13G>A	c.(13-15)Gag>Aag	p.E5K	CEP85_ENST00000451429.2_Missense_Mutation_p.E5K	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	5						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GGCCATGCAGGAGAAATATCC	0.408																																					p.E5K												.	.	0			c.G13A	1						.						115.0	107.0	110.0					1																	26566287		2203	4300	6503	26438874	SO:0001583	missense	64793	exon2			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.13G>A	1.37:g.26566287G>A	ENSP00000252992:p.Glu5Lys	Somatic		Capture	SOLID	Phase_I	26438874	NM_022778	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	CCDS277.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751141	0.69533	.	.	ENSG00000130695	ENST00000451429;ENST00000252992	T;T	0.30182	1.94;1.54	5.12	5.12	0.69794	.	0.183650	0.36134	N	0.002762	T	0.27419	0.0673	L	0.38531	1.155	0.30601	N	0.76051	B;P;P	0.37370	0.361;0.592;0.592	B;B;B	0.37601	0.187;0.254;0.254	T	0.32508	-0.9904	10	0.72032	D	0.01	-9.3514	13.9316	0.63998	0.0:0.0:1.0:0.0	.	5;5;5	F8W7K4;Q6P2H3;Q6P2H3-2	.;CEP85_HUMAN;.	K	5	ENSP00000417002:E5K;ENSP00000252992:E5K	ENSP00000252992:E5K	E	+	1	0	CEP85	26438874	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.090000	0.57693	2.645000	0.89757	0.585000	0.79938	GAG		0.408	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778	
CEP85	64793	hgsc.bcm.edu	37	1	26598552	26598552	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:26598552C>T	ENST00000252992.4	+	11	1915	c.1784C>T	c.(1783-1785)tCa>tTa	p.S595L	CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.S544L	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	595						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)		p.S595L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CAGTTGCGCTCACAAGTACAG	0.473																																					p.S595L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1784T	1						.						132.0	103.0	113.0					1																	26598552		2203	4300	6503	26471139	SO:0001583	missense	64793	exon11			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1784C>T	1.37:g.26598552C>T	ENSP00000252992:p.Ser595Leu	Somatic		Capture	SOLID	Phase_I	26471139	NM_022778	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	CCDS277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.358|4.358	0.065906|0.065906	0.08388|0.08388	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000453146|ENST00000451429;ENST00000252992	.|T;T	.|0.12774	.|2.65;2.65	5.47|5.47	1.55|1.55	0.23275|0.23275	.|.	.|0.321770	.|0.34314	.|N	.|0.004064	T|T	0.06781|0.06781	0.0173|0.0173	N|N	0.17082|0.17082	0.46|0.46	0.34331|0.34331	D|D	0.687678|0.687678	.|B;B;B	.|0.10296	.|0.002;0.003;0.001	.|B;B;B	.|0.12837	.|0.005;0.008;0.007	T|T	0.26744|0.26744	-1.0094|-1.0094	5|10	.|0.27785	.|T	.|0.31	-0.7825|-0.7825	4.8925|4.8925	0.13733|0.13733	0.1365:0.4462:0.0:0.4173|0.1365:0.4462:0.0:0.4173	.|.	.|544;595;595	.|F8W7K4;Q6P2H3;Q6P2H3-2	.|.;CEP85_HUMAN;.	Y|L	269|544;595	.|ENSP00000417002:S544L;ENSP00000252992:S595L	.|ENSP00000252992:S595L	H|S	+|+	1|2	0|0	CEP85|CEP85	26471139|26471139	0.903000|0.903000	0.30736|0.30736	0.598000|0.598000	0.28837|0.28837	0.939000|0.939000	0.58152|0.58152	1.251000|1.251000	0.32862|0.32862	0.098000|0.098000	0.17522|0.17522	-0.137000|-0.137000	0.14449|0.14449	CAC|TCA		0.473	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778	
LIN28A	79727	hgsc.bcm.edu	37	1	26752734	26752734	+	Splice_Site	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:26752734T>A	ENST00000326279.6	+	4	529	c.415T>A	c.(415-417)Tgc>Agc	p.C139S	LIN28A_ENST00000254231.4_Splice_Site_p.C139S	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	139					germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.C139S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TTGTACTAGGTGCTACAACTG	0.512																																					p.C139S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T415A	1						.						65.0	62.0	63.0					1																	26752734		2203	4300	6503	26625321	SO:0001630	splice_region_variant	79727	exon4			AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"""Zinc fingers, CCHC domain containing"""	15986	protein-coding gene	gene with protein product		611043	"""lin-28 homolog (C. elegans)"""	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.414-1T>A	1.37:g.26752734T>A		Somatic		Capture	SOLID	Phase_I	26625321	NM_024674		Missense_Mutation	SNP	ENST00000326279.6	37	CCDS280.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.834901	0.71373	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	T;T	0.62105	0.05;0.05	4.71	4.71	0.59529	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.000000	0.64402	D	0.000001	D	0.83335	0.5232	M	0.93507	3.425	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.87631	0.2516	10	0.72032	D	0.01	-5.8359	13.5249	0.61589	0.0:0.0:0.0:1.0	.	139	Q9H9Z2	LN28A_HUMAN	S	139	ENSP00000363314:C139S;ENSP00000254231:C139S	ENSP00000254231:C139S	C	+	1	0	LIN28A	26625321	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.762000	0.85270	1.979000	0.57680	0.454000	0.30748	TGC		0.512	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009891.2	NM_024674	Missense_Mutation
ARID1A	8289	hgsc.bcm.edu	37	1	27100182	27100184	+	In_Frame_Del	DEL	GCA	GCA	-	rs370696498|rs374564889		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	GCA	GCA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:27100182_27100184delGCA	ENST00000324856.7	+	16	4349_4351	c.3978_3980delGCA	c.(3976-3981)ccgcag>ccg	p.Q1334del	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_In_Frame_Del_p.Q951del|ARID1A_ENST00000457599.2_In_Frame_Del_p.Q1334del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1334	Gln-rich.				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)	p.Q1327*(1)|p.Q1334delQ(1)	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)		GCTACCCCCCgcagcagcagcag	0.591			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.1326_1327del			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	.	2	Substitution - Nonsense(1)|Deletion - In frame(1)	large_intestine(1)|endometrium(1)	c.3978_3980del	1						.																																			26972771	SO:0001651	inframe_deletion	8289	exon16			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.3978_3980delGCA	1.37:g.27100191_27100193delGCA	ENSP00000320485:p.Gln1334del	Somatic		Capture	SOLID	Phase_I	26972769	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	In_Frame_Del	DEL	ENST00000324856.7	37	CCDS285.1																																																																																				0.591	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
MECR	51102	hgsc.bcm.edu	37	1	29529714	29529714	+	Silent	SNP	G	G	A	rs142970545		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:29529714G>A	ENST00000263702.6	-	5	607	c.582C>T	c.(580-582)agC>agT	p.S194S	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000373791.3_Silent_p.S118S			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	194					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)	p.S194S(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GCCCCACTCCGCTGTTGGATG	0.562											OREG0013299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S118S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C354T	1						.	G	,	1,4403		0,1,2201	62.0	47.0	52.0		354,582	1.8	1.0	1	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MECR	NM_001024732.1,NM_016011.2	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	118/298,194/374	29529714	1,13003	2202	4300	6502	29402301	SO:0001819	synonymous_variant	51102	exon5				CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.582C>T	1.37:g.29529714G>A		Somatic	810	Capture	SOLID	Phase_I	29402301	NM_001024732	B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Silent	SNP	ENST00000263702.6	37	CCDS30659.1																																																																																				0.562	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011	
TSSK3	81629	hgsc.bcm.edu	37	1	32829537	32829537	+	Missense_Mutation	SNP	C	C	T	rs548883835		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:32829537C>T	ENST00000373534.3	+	2	992	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	FAM229A_ENST00000415596.1_Intron|FAM229A_ENST00000432622.1_5'Flank	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R163W(1)		NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				CAAGTCACACCGGGAGCTGAG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21658	0.0		0.0	False		,,,				2504	0.0				p.R163W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C487T	1						.						83.0	67.0	72.0					1																	32829537		2203	4300	6503	32602124	SO:0001583	missense	81629	exon2			AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"""serine/threonine kinase 22C (spermiogenesis associated)"""	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.487C>T	1.37:g.32829537C>T	ENSP00000362634:p.Arg163Trp	Somatic		Capture	SOLID	Phase_I	32602124	NM_052841	Q5TEE5	Missense_Mutation	SNP	ENST00000373534.3	37	CCDS362.1	.	.	.	.	.	.	.	.	.	.	C	2.515	-0.312098	0.05422	.	.	ENSG00000162526	ENST00000373534	T	0.66460	-0.21	5.57	-1.26	0.09376	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115145	0.39544	N	0.001339	T	0.68476	0.3005	M	0.68952	2.095	0.33661	D	0.609755	D	0.67145	0.996	P	0.58970	0.849	T	0.70015	-0.4988	10	0.87932	D	0	.	3.1141	0.06369	0.4689:0.2888:0.1094:0.1329	.	163	Q96PN8	TSSK3_HUMAN	W	163	ENSP00000362634:R163W	ENSP00000362634:R163W	R	+	1	2	TSSK3	32602124	0.000000	0.05858	0.193000	0.23327	0.241000	0.25554	-0.946000	0.03905	-0.403000	0.07622	-0.822000	0.03109	CGG		0.572	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020049.1		
CSF3R	1441	hgsc.bcm.edu	37	1	36932866	36932866	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:36932866T>C	ENST00000373106.1	-	16	2552	c.2005A>G	c.(2005-2007)Agc>Ggc	p.S669G	CSF3R_ENST00000373103.1_Missense_Mutation_p.S669G|CSF3R_ENST00000331941.5_Missense_Mutation_p.S669G|CSF3R_ENST00000487540.2_5'UTR|MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000418048.2_Missense_Mutation_p.S669G|CSF3R_ENST00000338937.5_Silent_p.A637A|CSF3R_ENST00000373104.1_Missense_Mutation_p.S669G|CSF3R_ENST00000361632.4_Missense_Mutation_p.S669G|CSF3R_ENST00000440588.2_Missense_Mutation_p.S669G	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	669					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.S669G(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GAGCCCAGGCTGCTGTGAGCT	0.602																																					p.S669G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2005G	1						.						92.0	100.0	97.0					1																	36932866		2203	4300	6503	36705453	SO:0001583	missense	1441	exon16			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.2005A>G	1.37:g.36932866T>C	ENSP00000362198:p.Ser669Gly	Somatic		Capture	SOLID	Phase_I	36705453	NM_172313		Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.453126	0.84209	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000440588	T;T;T;T;T;T;T	0.55588	0.61;0.51;0.6;0.61;0.51;0.61;0.6	5.41	5.41	0.78517	.	0.080390	0.85682	D	0.000000	T	0.70587	0.3241	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.85130	0.994;0.997;0.994;0.995	T	0.74064	-0.3785	10	0.72032	D	0.01	-24.6855	13.1818	0.59660	0.0:0.0:0.0:1.0	.	669;669;669;669	Q1ZYL6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	G	669	ENSP00000362198:S669G;ENSP00000362196:S669G;ENSP00000362195:S669G;ENSP00000355406:S669G;ENSP00000332180:S669G;ENSP00000401588:S669G;ENSP00000397568:S669G	ENSP00000332180:S669G	S	-	1	0	CSF3R	36705453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.620000	0.61226	2.071000	0.62044	0.533000	0.62120	AGC		0.602	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039	
DNALI1	7802	hgsc.bcm.edu	37	1	38027698	38027698	+	Missense_Mutation	SNP	C	C	T	rs140560934		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:38027698C>T	ENST00000296218.7	+	5	669	c.659C>T	c.(658-660)aCg>aTg	p.T220M	DNALI1_ENST00000497858.1_3'UTR|DNALI1_ENST00000541606.1_Missense_Mutation_p.T72M	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	198					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)	p.T220M(1)		breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAATTGGAGACGGAAAAGAGA	0.557											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		21410	0.0		0.0	False		,,,				2504	0.0				p.T220M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C659T	1						.	C	MET/THR	0,4406		0,0,2203	89.0	93.0	91.0		659	5.4	0.9	1	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DNALI1	NM_003462.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	220/281	38027698	2,13004	2203	4300	6503	37800285	SO:0001583	missense	7802	exon5			AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"""Axonemal dyneins"""	14353	protein-coding gene	gene with protein product	"""inner dynein arm, homolog of clamydomonas"", ""dJ423B22.5 (axonemal dynein light chain (hp28))"""	602135	"""dynein, axonemal, light intermediate polypeptide 1"""			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.659C>T	1.37:g.38027698C>T	ENSP00000296218:p.Thr220Met	Somatic	875	Capture	SOLID	Phase_I	37800285	NM_003462	A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Missense_Mutation	SNP	ENST00000296218.7	37	CCDS420.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824597	0.32237	0.0	2.33E-4	ENSG00000163879	ENST00000296218;ENST00000541606	T	0.45276	0.9	5.41	5.41	0.78517	.	0.582159	0.18947	N	0.126786	T	0.27663	0.0680	L	0.34521	1.04	0.18873	N	0.999988	B	0.31581	0.329	B	0.17098	0.017	T	0.17048	-1.0382	10	0.49607	T	0.09	-5.1452	7.7503	0.28894	0.2056:0.7127:0.0:0.0818	.	198	O14645	IDLC_HUMAN	M	220;72	ENSP00000296218:T220M	ENSP00000296218:T220M	T	+	2	0	DNALI1	37800285	0.025000	0.19082	0.863000	0.33907	0.932000	0.56968	1.028000	0.30128	2.688000	0.91661	0.591000	0.81541	ACG		0.557	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462	
MTF1	4520	hgsc.bcm.edu	37	1	38288275	38288275	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:38288275C>T	ENST00000373036.4	-	9	1425	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	429	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.E429K(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGGGTGGCTCGGAGAGGCCA	0.562																																					p.E429K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1285A	1						.						47.0	54.0	52.0					1																	38288275		2203	4300	6503	38060862	SO:0001583	missense	4520	exon9			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1285G>A	1.37:g.38288275C>T	ENSP00000362127:p.Glu429Lys	Somatic		Capture	SOLID	Phase_I	38060862	NM_005955	B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063899	0.55432	.	.	ENSG00000188786	ENST00000373036	T	0.10477	2.87	6.17	4.32	0.51571	.	0.164522	0.56097	N	0.000027	T	0.07324	0.0185	N	0.24115	0.695	0.39126	D	0.961752	B	0.13594	0.008	B	0.06405	0.002	T	0.25882	-1.0119	10	0.15066	T	0.55	.	11.5766	0.50864	0.0:0.8743:0.0:0.1257	.	429	Q14872	MTF1_HUMAN	K	429	ENSP00000362127:E429K	ENSP00000362127:E429K	E	-	1	0	MTF1	38060862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.029000	0.49712	0.945000	0.37605	0.655000	0.94253	GAG		0.562	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955	
MTF1	4520	hgsc.bcm.edu	37	1	38322970	38322970	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:38322970C>T	ENST00000373036.4	-	2	501	c.361G>A	c.(361-363)Gca>Aca	p.A121T	MTF1_ENST00000468190.1_5'Flank	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	121					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A121T(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTGAGGGTTGCACCTTCAATA	0.453																																					p.A121T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G361A	1						.						133.0	112.0	119.0					1																	38322970		2203	4300	6503	38095557	SO:0001583	missense	4520	exon2			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.361G>A	1.37:g.38322970C>T	ENSP00000362127:p.Ala121Thr	Somatic		Capture	SOLID	Phase_I	38095557	NM_005955	B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759464	0.89932	.	.	ENSG00000188786	ENST00000373036	T	0.11604	2.76	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	L	0.55990	1.75	0.58432	D	0.999999	P	0.43412	0.806	B	0.37047	0.24	T	0.01056	-1.1466	10	0.66056	D	0.02	.	19.9295	0.97114	0.0:1.0:0.0:0.0	.	121	Q14872	MTF1_HUMAN	T	121	ENSP00000362127:A121T	ENSP00000362127:A121T	A	-	1	0	MTF1	38095557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.695000	0.91970	0.655000	0.94253	GCA		0.453	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955	
FHL3	2275	hgsc.bcm.edu	37	1	38463388	38463388	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:38463388G>C	ENST00000373016.3	-	5	824	c.656C>G	c.(655-657)cCt>cGt	p.P219R	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	219					actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCTGCACTTAGGTGCAAAGAG	0.587																																					p.P219R												.	.	0			c.C656G	1						.						85.0	81.0	82.0					1																	38463388		2203	4300	6503	38235975	SO:0001583	missense	2275	exon5			BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.656C>G	1.37:g.38463388G>C	ENSP00000362107:p.Pro219Arg	Somatic		Capture	SOLID	Phase_I	38235975	NM_004468	D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238542	0.39598	.	.	ENSG00000183386	ENST00000373016	D	0.88818	-2.43	5.18	5.18	0.71444	Zinc finger, LIM-type (2);	0.104246	0.64402	D	0.000006	D	0.84656	0.5520	L	0.46614	1.455	0.30955	N	0.724323	P;B	0.40731	0.728;0.146	B;B	0.37601	0.254;0.057	D	0.86947	0.2083	10	0.87932	D	0	.	11.9518	0.52959	0.0:0.0:0.7032:0.2968	.	111;219	Q96C98;Q13643	.;FHL3_HUMAN	R	219	ENSP00000362107:P219R	ENSP00000362107:P219R	P	-	2	0	FHL3	38235975	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.007000	0.76335	2.426000	0.82243	0.313000	0.20887	CCT		0.587	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468	
MACF1	23499	hgsc.bcm.edu	37	1	39854112	39854112	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:39854112A>G	ENST00000372915.3	+	57	15700	c.15613A>G	c.(15613-15615)Agg>Ggg	p.R5205G	MACF1_ENST00000567887.1_Missense_Mutation_p.R5237G|MACF1_ENST00000539005.1_Missense_Mutation_p.R3117G|MACF1_ENST00000564288.1_Missense_Mutation_p.R5200G|MACF1_ENST00000317713.7_Missense_Mutation_p.R3138G|MACF1_ENST00000545844.1_Missense_Mutation_p.R3138G|MACF1_ENST00000361689.2_Missense_Mutation_p.R3138G|MACF1_ENST00000289893.4_Missense_Mutation_p.R3640G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5205					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R3138G(1)|p.R3640G(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGTCTCAAAAGGGAGCTAGA	0.478																																					p.R3138G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A9412G	1						.						46.0	46.0	46.0					1																	39854112		2203	4300	6503	39626699	SO:0001583	missense	23499	exon54			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15613A>G	1.37:g.39854112A>G	ENSP00000362006:p.Arg5205Gly	Somatic		Capture	SOLID	Phase_I	39626699	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.32|17.32	3.359599|3.359599	0.61403|0.61403	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T|T;T;T;T;T;T	0.34859|0.35048	1.34|1.33;1.33;1.33;1.33;1.33;1.33	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.56140|0.56140	0.1965|0.1965	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.998	.|D;D;D	.|0.91635	.|0.999;0.999;0.997	T|T	0.55016|0.55016	-0.8206|-0.8206	7|10	0.41790|0.39692	T|T	0.15|0.17	.|.	12.1894|12.1894	0.54261|0.54261	0.8182:0.1818:0.0:0.0|0.8182:0.1818:0.0:0.0	.|.	.|5205;3138;3082	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	R|G	2250|3138;5205;3138;3138;3117;3640	ENSP00000362016:K2250R|ENSP00000439537:R3138G;ENSP00000362006:R5205G;ENSP00000354573:R3138G;ENSP00000313438:R3138G;ENSP00000444364:R3117G;ENSP00000289893:R3640G	ENSP00000362016:K2250R|ENSP00000289893:R3640G	K|R	+|+	2|1	0|2	MACF1|MACF1	39626699|39626699	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.081000|3.081000	0.50120|0.50120	2.198000|2.198000	0.70561|0.70561	0.460000|0.460000	0.39030|0.39030	AAG|AGG		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
KCNQ4	9132	hgsc.bcm.edu	37	1	41300689	41300689	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:41300689C>T	ENST00000347132.5	+	12	1746	c.1664C>T	c.(1663-1665)cCg>cTg	p.P555L	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.P501L	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	555	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.P555L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	ACACTGCGACCGTACGACGTG	0.577																																					p.P555L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1664T	1						.						126.0	111.0	116.0					1																	41300689		2203	4300	6503	41073276	SO:0001583	missense	9132	exon12			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1664C>T	1.37:g.41300689C>T	ENSP00000262916:p.Pro555Leu	Somatic		Capture	SOLID	Phase_I	41073276	NM_004700	O96025	Missense_Mutation	SNP	ENST00000347132.5	37	CCDS456.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879773	0.91740	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99912	-7.95;-7.95	5.12	5.12	0.69794	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95824	0.8852	10	0.87932	D	0	-16.1176	16.423	0.83773	0.0:1.0:0.0:0.0	.	501;555	P56696-2;P56696	.;KCNQ4_HUMAN	L	555;501	ENSP00000262916:P555L;ENSP00000423756:P501L	ENSP00000262916:P555L	P	+	2	0	KCNQ4	41073276	1.000000	0.71417	0.940000	0.37924	0.981000	0.71138	7.705000	0.84606	2.556000	0.86216	0.551000	0.68910	CCG		0.577	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700	
EBNA1BP2	10969	hgsc.bcm.edu	37	1	43637201	43637201	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:43637201T>C	ENST00000236051.2	-	3	413	c.272A>G	c.(271-273)aAg>aGg	p.K91R	WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000472982.1_5'UTR|EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.K146R	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	91					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K91R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTCTGGTCCTTGTTCTGAGG	0.507																																					p.K91R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A272G	1						.						154.0	150.0	151.0					1																	43637201		2203	4300	6503	43409788	SO:0001583	missense	10969	exon3			U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.272A>G	1.37:g.43637201T>C	ENSP00000236051:p.Lys91Arg	Somatic		Capture	SOLID	Phase_I	43409788	NM_006824	Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	CCDS478.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.712576	0.30322	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.43688	0.94;0.94	5.91	3.53	0.40419	.	0.627416	0.16900	N	0.194937	T	0.29061	0.0722	L	0.33668	1.02	0.09310	N	1	P;B;B	0.34864	0.473;0.229;0.229	B;B;B	0.34991	0.193;0.116;0.116	T	0.14062	-1.0486	10	0.49607	T	0.09	-5.7062	6.0713	0.19891	0.1382:0.0:0.2802:0.5817	.	91;91;91	B4DHA6;Q6IB29;Q99848	.;.;EBP2_HUMAN	R	146;91	ENSP00000407323:K146R;ENSP00000236051:K91R	ENSP00000236051:K91R	K	-	2	0	EBNA1BP2	43409788	0.347000	0.24853	0.989000	0.46669	0.220000	0.24768	0.481000	0.22260	2.263000	0.75096	0.528000	0.53228	AAG		0.507	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1		
CFAP57	149465	hgsc.bcm.edu	37	1	43647336	43647336	+	Missense_Mutation	SNP	C	C	T	rs140623499		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:43647336C>T	ENST00000372492.4	+	3	613	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	WDR65_ENST00000528956.1_Missense_Mutation_p.R97C	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		97								p.R97C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGCCGGAAGCGCAAAGTTCT	0.443																																					p.R97C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C289T	1						.	C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	114.0	111.0	112.0		289,289,289	5.6	1.0	1	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	97/699,97/699,97/699	43647336	1,13005	2203	4300	6503	43419923	SO:0001583	missense	149465	exon3																														ENST00000372492.4:c.289C>T	1.37:g.43647336C>T	ENSP00000361570:p.Arg97Cys	Somatic		Capture	SOLID	Phase_I	43419923	NM_001167966	A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37		.	.	.	.	.	.	.	.	.	.	C	20.3	3.963102	0.74016	0.0	1.16E-4	ENSG00000243710	ENST00000372492;ENST00000528956;ENST00000529956	T;T;T	0.49432	0.98;1.05;0.78	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049580	0.85682	D	0.000000	T	0.67297	0.2878	M	0.79123	2.44	0.58432	D	0.999995	D;D	0.64830	0.992;0.994	P;P	0.57960	0.83;0.829	T	0.70135	-0.4955	10	0.59425	D	0.04	.	19.1541	0.93503	0.0:1.0:0.0:0.0	.	97;97	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	C	97	ENSP00000361570:R97C;ENSP00000435310:R97C;ENSP00000434133:R97C	ENSP00000361570:R97C	R	+	1	0	WDR65	43419923	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	4.407000	0.59754	2.626000	0.88956	0.557000	0.71058	CGC		0.443	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1		
GPBP1L1	60313	hgsc.bcm.edu	37	1	46120474	46120474	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:46120474C>T	ENST00000290795.3	-	5	1439	c.218G>A	c.(217-219)cGc>cAc	p.R73H	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.R73H			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	73					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R73H(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AGAATCATGGCGGAACAGGGA	0.478																																					p.R73H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	1						.						46.0	45.0	45.0					1																	46120474		2203	4300	6503	45893061	SO:0001583	missense	60313	exon6				CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.218G>A	1.37:g.46120474C>T	ENSP00000290795:p.Arg73His	Somatic		Capture	SOLID	Phase_I	45893061	NM_021639	D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	CCDS528.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271305	0.80469	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.50001	0.76;0.76	5.95	3.1	0.35709	.	0.053431	0.64402	N	0.000001	T	0.46560	0.1399	L	0.56769	1.78	0.41767	D	0.989749	P	0.52577	0.954	P	0.44597	0.454	T	0.49735	-0.8908	10	0.87932	D	0	-12.4626	11.5938	0.50962	0.0:0.8143:0.0:0.1857	.	73	Q9HC44	GPBL1_HUMAN	H	73	ENSP00000290795:R73H;ENSP00000347224:R73H	ENSP00000290795:R73H	R	-	2	0	GPBP1L1	45893061	1.000000	0.71417	0.564000	0.28396	0.994000	0.84299	7.185000	0.77714	0.427000	0.26145	0.655000	0.94253	CGC		0.478	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639	
IPP	3652	hgsc.bcm.edu	37	1	46195291	46195291	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:46195291G>A	ENST00000396478.3	-	4	977	c.875C>T	c.(874-876)gCa>gTa	p.A292V		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	292						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.A292V(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CTCACCTACTGCATACAGGTA	0.338																																					p.A292V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C875T	1						.						100.0	104.0	103.0					1																	46195291		2203	4300	6503	45967878	SO:0001583	missense	3652	exon4			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.875C>T	1.37:g.46195291G>A	ENSP00000379739:p.Ala292Val	Somatic		Capture	SOLID	Phase_I	45967878	NM_005897	A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	G	5.777	0.327781	0.10956	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.72942	-0.7;-0.7	5.67	4.76	0.60689	Galactose oxidase, beta-propeller (1);	0.270973	0.41194	N	0.000928	T	0.59211	0.2177	N	0.21240	0.645	0.58432	D	0.999999	B;B	0.10296	0.003;0.003	B;B	0.23716	0.048;0.014	T	0.54323	-0.8311	10	0.36615	T	0.2	.	14.6496	0.68786	0.0699:0.0:0.9301:0.0	.	292;292	Q9Y573;A2A6V3	IPP_HUMAN;.	V	292	ENSP00000353024:A292V;ENSP00000379739:A292V	ENSP00000353024:A292V	A	-	2	0	IPP	45967878	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.247000	0.72411	1.406000	0.46857	-0.258000	0.10820	GCA		0.338	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897	
RAD54L	8438	hgsc.bcm.edu	37	1	46725757	46725757	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:46725757G>A	ENST00000371975.4	+	5	1067	c.393G>A	c.(391-393)caG>caA	p.Q131Q	RAD54L_ENST00000442598.1_Silent_p.Q131Q	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	131					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q131Q(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTCATGACCAGCTGAAGCTTG	0.532								Direct reversal of damage;Homologous recombination																													p.Q131Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G393A	1						.						109.0	109.0	109.0					1																	46725757		2203	4300	6503	46498344	SO:0001819	synonymous_variant	8438	exon6			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.393G>A	1.37:g.46725757G>A		Somatic		Capture	SOLID	Phase_I	46498344	NM_001142548	Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	37	CCDS532.1																																																																																				0.532	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579	
FAF1	11124	hgsc.bcm.edu	37	1	51171474	51171474	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:51171474C>T	ENST00000396153.2	-	7	1092	c.641G>A	c.(640-642)aGc>aAc	p.S214N	FAF1_ENST00000371778.4_Missense_Mutation_p.S214N	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	214					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(2)|p.S214N(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AATAGTACTGCTTCCTGAGAA	0.438																																					p.S214N												.	.	3	Whole gene deletion(2)|Substitution - Missense(1)	thyroid(1)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G641A	1						.						129.0	116.0	121.0					1																	51171474		2203	4300	6503	50944062	SO:0001583	missense	11124	exon7			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.641G>A	1.37:g.51171474C>T	ENSP00000379457:p.Ser214Asn	Somatic		Capture	SOLID	Phase_I	50944062	NM_007051	Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	CCDS554.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.758974	0.69763	.	.	ENSG00000185104	ENST00000396153;ENST00000371778	T;T	0.29655	1.56;1.56	5.66	5.66	0.87406	.	0.090275	0.64402	D	0.000001	T	0.41026	0.1141	L	0.34521	1.04	0.80722	D	1	D	0.60575	0.988	P	0.57204	0.815	T	0.03524	-1.1028	10	0.28530	T	0.3	-10.1008	19.7502	0.96265	0.0:1.0:0.0:0.0	.	214	Q9UNN5	FAF1_HUMAN	N	214	ENSP00000379457:S214N;ENSP00000360843:S214N	ENSP00000360843:S214N	S	-	2	0	FAF1	50944062	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.866000	0.63005	2.654000	0.90174	0.650000	0.86243	AGC		0.438	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051	
MRPL37	51253	hgsc.bcm.edu	37	1	54666225	54666225	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:54666225C>T	ENST00000360840.5	+	1	386	c.309C>T	c.(307-309)gcC>gcT	p.A103A	MRPL37_ENST00000336230.6_Missense_Mutation_p.P73L|CYB5RL_ENST00000542737.1_5'Flank|RP11-446E24.4_ENST00000311841.7_5'Flank|MRPL37_ENST00000487096.1_Intron|MRPL37_ENST00000605337.1_Silent_p.A103A|CYB5RL_ENST00000537208.1_5'Flank	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	103					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A103A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						AAGACCAGGCCTGCTATATCT	0.647																																					p.A103A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C309T	1						.						52.0	52.0	52.0					1																	54666225		2203	4300	6503	54438813	SO:0001819	synonymous_variant	51253	exon1			AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.309C>T	1.37:g.54666225C>T		Somatic		Capture	SOLID	Phase_I	54438813	NM_016491	Q96Q67|Q9BWR1|Q9P0P3	Silent	SNP	ENST00000360840.5	37	CCDS589.1	.	.	.	.	.	.	.	.	.	.	C	9.994	1.231715	0.22626	.	.	ENSG00000116221	ENST00000336230	T	0.33438	1.41	4.81	0.638	0.17742	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.24451	N	0.99449	B	0.15473	0.013	B	0.15870	0.014	T	0.33111	-0.9881	8	0.10636	T	0.68	-2.5763	1.9164	0.03298	0.277:0.4314:0.1348:0.1568	.	73	A6NHR2	.	L	73	ENSP00000338526:P73L	ENSP00000338526:P73L	P	+	2	0	MRPL37	54438813	0.004000	0.15560	0.148000	0.22405	0.031000	0.12232	-0.208000	0.09371	0.033000	0.15463	0.637000	0.83480	CCT		0.647	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491	
ACOT11	26027	hgsc.bcm.edu	37	1	55059712	55059712	+	Splice_Site	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:55059712G>T	ENST00000371316.3	+	5	553	c.471G>T	c.(469-471)aaG>aaT	p.K157N	ACOT11_ENST00000343744.2_Splice_Site_p.K157N|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	157	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.K157N(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						AGATCACCAAGGTAACTGGGT	0.632																																					p.K157N	Ovarian(148;1440 1861 22015 32453 51933)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G471T	1						.						50.0	52.0	51.0					1																	55059712		2203	4300	6503	54832300	SO:0001630	splice_region_variant	26027	exon5			AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.471+1G>T	1.37:g.55059712G>T		Somatic		Capture	SOLID	Phase_I	54832300	NM_147161	B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263538	0.59431	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.44482	0.92;0.92	4.86	4.86	0.63082	.	0.151528	0.64402	D	0.000013	T	0.44350	0.1289	L	0.59436	1.845	0.80722	D	1	P;P	0.40066	0.701;0.55	B;B	0.39152	0.285;0.292	T	0.49351	-0.8949	10	0.51188	T	0.08	-9.8826	18.0215	0.89255	0.0:0.0:1.0:0.0	.	157;157	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	N	157	ENSP00000340260:K157N;ENSP00000360366:K157N	ENSP00000340260:K157N	K	+	3	2	ACOT11	54832300	1.000000	0.71417	0.992000	0.48379	0.045000	0.14185	3.711000	0.54868	2.234000	0.73211	0.561000	0.74099	AAG		0.632	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547	Missense_Mutation
OMA1	115209	hgsc.bcm.edu	37	1	58971764	58971764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:58971764G>A	ENST00000371226.3	-	8	1446	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	DAB1_ENST00000485760.1_5'UTR|OMA1_ENST00000358603.2_Nonsense_Mutation_p.R445*	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	445					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R445*(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TACTCAACTCGATTGCCATGA	0.438																																					p.R445X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1333T	1						.						135.0	120.0	125.0					1																	58971764		2203	4300	6503	58744352	SO:0001587	stop_gained	115209	exon8			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.1333C>T	1.37:g.58971764G>A	ENSP00000360270:p.Arg445*	Somatic		Capture	SOLID	Phase_I	58744352	NM_145243	D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Nonsense_Mutation	SNP	ENST00000371226.3	37	CCDS608.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.544027|6.544027	0.97650|0.97650	.|.	.|.	ENSG00000162600|ENSG00000162600	ENST00000358603;ENST00000371226|ENST00000421528	.|.	.|.	.|.	5.34|5.34	2.39|2.39	0.29439|0.29439	.|.	0.062472|.	0.64402|.	D|.	0.000008|.	.|T	.|0.57548	.|0.2061	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49969	.|-0.8882	.|4	0.02654|.	T|.	1|.	-4.5059|-4.5059	8.6384|8.6384	0.33962|0.33962	0.0723:0.0:0.658:0.2697|0.0723:0.0:0.658:0.2697	.|.	.|.	.|.	.|.	X|L	445|286	.|.	ENSP00000351417:R445X|.	R|S	-|-	1|2	2|0	OMA1|OMA1	58744352|58744352	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.385000|0.385000	0.30292|0.30292	2.234000|2.234000	0.43035|0.43035	0.362000|0.362000	0.24319|0.24319	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.438	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243	
NFIA	4774	hgsc.bcm.edu	37	1	61849011	61849011	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:61849011A>T	ENST00000403491.3	+	7	1533	c.1049A>T	c.(1048-1050)cAc>cTc	p.H350L	NFIA_ENST00000371189.4_Missense_Mutation_p.H395L|NFIA_ENST00000371185.2_Missense_Mutation_p.H328L|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Intron|NFIA_ENST00000371184.2_Missense_Mutation_p.H221L|NFIA_ENST00000371191.1_Missense_Mutation_p.H373L|NFIA_ENST00000407417.3_Missense_Mutation_p.H342L|NFIA_ENST00000371187.3_Missense_Mutation_p.H350L	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	350					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						ACACAGCATCACCGACCTGTC	0.537																																					p.H395L												.	.	0			c.A1184T	1						.						161.0	153.0	156.0					1																	61849011		2203	4300	6503	61621599	SO:0001583	missense	4774	exon8			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.1049A>T	1.37:g.61849011A>T	ENSP00000384523:p.His350Leu	Somatic		Capture	SOLID	Phase_I	61621599	NM_001145512	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128333	0.77549	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.7	5.7	0.88788	.	0.052988	0.85682	D	0.000000	T	0.59128	0.2171	L	0.41492	1.28	0.54753	D	0.999986	D;P;P;P	0.53462	0.96;0.65;0.65;0.597	D;P;P;B	0.66979	0.948;0.537;0.537;0.402	T	0.55231	-0.8173	10	0.33141	T	0.24	-9.6634	15.963	0.79945	1.0:0.0:0.0:0.0	.	395;373;350;350	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	L	373;342;395;350;350;328;221	ENSP00000360233:H373L;ENSP00000384680:H342L;ENSP00000360231:H395L;ENSP00000384523:H350L;ENSP00000360227:H328L;ENSP00000360226:H221L	ENSP00000360226:H221L	H	+	2	0	NFIA	61621599	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.797000	0.85911	2.170000	0.68504	0.460000	0.39030	CAC		0.537	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595	
L1TD1	54596	hgsc.bcm.edu	37	1	62672514	62672514	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:62672514A>G	ENST00000498273.1	+	3	509	c.214A>G	c.(214-216)Act>Gct	p.T72A		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	72								p.T72A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gatgagggaaactcttaaaaa	0.363																																					p.T72A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A214G	1						.						27.0	27.0	27.0					1																	62672514		2202	4297	6499	62445102	SO:0001583	missense	54596	exon3			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.214A>G	1.37:g.62672514A>G	ENSP00000419901:p.Thr72Ala	Somatic		Capture	SOLID	Phase_I	62445102	NM_019079	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446036	0.25987	.	.	ENSG00000240563	ENST00000498273	T	0.16897	2.31	2.21	1.05	0.20165	.	.	.	.	.	T	0.08670	0.0215	N	0.19112	0.55	0.09310	N	1	P	0.38148	0.62	B	0.33042	0.157	T	0.23762	-1.0179	9	0.49607	T	0.09	.	4.1583	0.10272	0.6184:0.0:0.0:0.3816	.	72	Q5T7N2	LITD1_HUMAN	A	72	ENSP00000419901:T72A	ENSP00000419901:T72A	T	+	1	0	L1TD1	62445102	0.007000	0.16637	0.080000	0.20451	0.412000	0.31113	0.198000	0.17217	0.304000	0.22809	0.260000	0.18958	ACT		0.363	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079	
DOCK7	85440	hgsc.bcm.edu	37	1	63008296	63008296	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:63008296A>G	ENST00000340370.5	-	24	2952	c.2935T>C	c.(2935-2937)Ttc>Ctc	p.F979L	DOCK7_ENST00000251157.5_Missense_Mutation_p.F1010L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1010					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.F979L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TCAAAAAAGAACCAGGCTTGT	0.388																																					p.F979L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2935C	1						.						76.0	80.0	79.0					1																	63008296		2203	4300	6503	62780884	SO:0001583	missense	85440	exon24				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2935T>C	1.37:g.63008296A>G	ENSP00000340742:p.Phe979Leu	Somatic		Capture	SOLID	Phase_I	62780884	NM_033407	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.2|28.2	4.902886|4.902886	0.92035|0.92035	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370|ENST00000454575	T;T|.	0.26373|.	1.74;1.74|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83741|0.83741	0.5320|0.5320	M|M	0.90145|0.90145	3.09|3.09	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.69078|.	0.994;0.961;0.961;0.997;0.987|.	P;P;P;D;D|.	0.69142|.	0.891;0.882;0.85;0.962;0.96|.	D|D	0.87145|0.87145	0.2205|0.2205	10|5	0.62326|.	D|.	0.03|.	.|.	15.8223|15.8223	0.78667|0.78667	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1010;979;979;979;1010|.	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	.;.;.;.;.|.	L|A	1010;1010;979|181	ENSP00000251157:F1010L;ENSP00000340742:F979L|.	ENSP00000251157:F1010L|.	F|V	-|-	1|2	0|0	DOCK7|DOCK7	62780884|62780884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.287000|9.287000	0.95975|0.95975	2.188000|2.188000	0.69820|0.69820	0.528000|0.528000	0.53228|0.53228	TTC|GTT		0.388	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
DOCK7	85440	hgsc.bcm.edu	37	1	63113818	63113818	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:63113818G>A	ENST00000340370.5	-	6	708	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	DOCK7_ENST00000404627.2_Missense_Mutation_p.R231C|DOCK7_ENST00000251157.5_Missense_Mutation_p.R231C	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	231					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.R231C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TCTTTGTGACGGTTTGATTTC	0.343																																					p.R231C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C691T	1						.						121.0	123.0	122.0					1																	63113818		2203	4300	6503	62886406	SO:0001583	missense	85440	exon6				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.691C>T	1.37:g.63113818G>A	ENSP00000340742:p.Arg231Cys	Somatic		Capture	SOLID	Phase_I	62886406	NM_033407	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793910	0.70452	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.18810	2.19;2.19;2.19	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	M	0.93550	3.43	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.996;0.999;0.999;1.0	T	0.58567	-0.7614	10	0.87932	D	0	.	10.9698	0.47432	0.0:0.0:0.6788:0.3212	.	231;231;231;231;231	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	C	231	ENSP00000251157:R231C;ENSP00000340742:R231C;ENSP00000384446:R231C	ENSP00000251157:R231C	R	-	1	0	DOCK7	62886406	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.000000	0.57039	2.458000	0.83093	0.563000	0.77884	CGT		0.343	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
SGIP1	84251	hgsc.bcm.edu	37	1	67101674	67101674	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:67101674G>A	ENST00000371037.4	+	4	224	c.147G>A	c.(145-147)gcG>gcA	p.A49A	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	49					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.A49A(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAGAGTGTGCGCGTGAAGGAG	0.368																																					p.A49A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G147A	1						.						91.0	94.0	93.0					1																	67101674		2203	4300	6503	66874262	SO:0001819	synonymous_variant	84251	exon4			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.147G>A	1.37:g.67101674G>A		Somatic		Capture	SOLID	Phase_I	66874262	NM_032291	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	CCDS30744.1																																																																																				0.368	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	
SGIP1	84251	hgsc.bcm.edu	37	1	67147793	67147793	+	Silent	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:67147793C>A	ENST00000371037.4	+	15	1133	c.1056C>A	c.(1054-1056)ctC>ctA	p.L352L	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.L356L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	352	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.L352L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAGGCCCTCTCGGCCCCCCAG	0.607																																					p.L352L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1056A	1						.						88.0	113.0	104.0					1																	67147793		2203	4300	6503	66920381	SO:0001819	synonymous_variant	84251	exon15			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1056C>A	1.37:g.67147793C>A		Somatic		Capture	SOLID	Phase_I	66920381	NM_032291	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	CCDS30744.1																																																																																				0.607	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	
SLC35D1	23169	hgsc.bcm.edu	37	1	67507996	67507996	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:67507996C>T	ENST00000235345.5	-	8	737	c.652G>A	c.(652-654)Gga>Aga	p.G218R	SLC35D1_ENST00000506472.2_Missense_Mutation_p.G139R	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	218					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)	p.G218R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						TAGAGCAGTCCATATTTTCCC	0.403																																					p.G218R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G652A	1						.						271.0	262.0	265.0					1																	67507996		2203	4300	6503	67280584	SO:0001583	missense	23169	exon8			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.652G>A	1.37:g.67507996C>T	ENSP00000235345:p.Gly218Arg	Somatic		Capture	SOLID	Phase_I	67280584	NM_015139	A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	ENST00000235345.5	37	CCDS636.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941463	0.73557	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.61980	0.06;0.06	5.66	5.66	0.87406	Domain of unknown function DUF250 (1);	0.044888	0.85682	D	0.000000	T	0.80330	0.4603	M	0.91663	3.23	0.80722	D	1	D;D	0.60575	0.988;0.979	D;D	0.69479	0.964;0.948	T	0.79210	-0.1897	10	0.33141	T	0.24	-8.6834	18.9159	0.92506	0.0:1.0:0.0:0.0	.	139;218	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	R	218;139	ENSP00000235345:G218R;ENSP00000445189:G139R	ENSP00000235345:G218R	G	-	1	0	SLC35D1	67280584	1.000000	0.71417	0.996000	0.52242	0.304000	0.27724	6.890000	0.75633	2.840000	0.97914	0.655000	0.94253	GGA		0.403	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139	
LRRC7	57554	hgsc.bcm.edu	37	1	70225998	70225998	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:70225998G>A	ENST00000035383.5	+	1	141	c.111G>A	c.(109-111)gtG>gtA	p.V37V	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Silent_p.V75V|LRRC7_ENST00000310961.5_Silent_p.V42V	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	37						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.V37V(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCAGCAGGTGCCAAAGGAGG	0.428																																					p.V37V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G111A	1						.						80.0	79.0	80.0					1																	70225998		2203	4300	6503	69998586	SO:0001819	synonymous_variant	57554	exon1				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.111G>A	1.37:g.70225998G>A		Somatic		Capture	SOLID	Phase_I	69998586	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	CCDS645.1																																																																																				0.428	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
SLC44A5	204962	hgsc.bcm.edu	37	1	75685516	75685516	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:75685516T>A	ENST00000370855.5	-	15	1260	c.1147A>T	c.(1147-1149)Atc>Ttc	p.I383F	SLC44A5_ENST00000535611.1_Missense_Mutation_p.I253F|SLC44A5_ENST00000370859.3_Missense_Mutation_p.I383F	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	383					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I383F(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAAATGCAGATTGAGAGCAAA	0.378																																					p.I383F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1147T	1						.						106.0	99.0	101.0					1																	75685516		2203	4300	6503	75458104	SO:0001583	missense	204962	exon15			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1147A>T	1.37:g.75685516T>A	ENSP00000359892:p.Ile383Phe	Somatic		Capture	SOLID	Phase_I	75458104	NM_152697	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044814	0.75732	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.23147	1.92;1.92;1.92	5.77	3.44	0.39384	.	0.227086	0.47093	D	0.000254	T	0.25457	0.0619	L	0.55834	1.745	0.58432	D	0.999993	P;P;P;P;P	0.48764	0.915;0.828;0.915;0.896;0.896	P;P;P;P;P	0.58210	0.835;0.835;0.835;0.817;0.745	T	0.01639	-1.1306	10	0.41790	T	0.15	-12.9958	10.3445	0.43899	0.0:0.1353:0.0:0.8647	.	377;422;383;383;422	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	F	383;422;383;253;376	ENSP00000359896:I383F;ENSP00000359892:I383F;ENSP00000443090:I253F	ENSP00000359892:I383F	I	-	1	0	SLC44A5	75458104	0.719000	0.27986	0.998000	0.56505	0.880000	0.50808	0.472000	0.22116	1.014000	0.39417	0.533000	0.62120	ATC		0.378	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	
SLC44A5	204962	hgsc.bcm.edu	37	1	75708605	75708605	+	Missense_Mutation	SNP	C	C	T	rs373084017		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:75708605C>T	ENST00000370855.5	-	8	550	c.437G>A	c.(436-438)cGt>cAt	p.R146H	SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_Missense_Mutation_p.R16H|SLC44A5_ENST00000370859.3_Missense_Mutation_p.R146H	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	146					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R146H(2)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ACAGAACTGACGGTAGTCTTC	0.378																																					p.R146H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G437A	1						.	C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	163.0	166.0	165.0		437,437	2.1	0.4	1		165	0,8600		0,0,4300	no	missense,missense	SLC44A5	NM_001130058.1,NM_152697.4	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	146/718,146/720	75708605	1,13005	2203	4300	6503	75481193	SO:0001583	missense	204962	exon8			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.437G>A	1.37:g.75708605C>T	ENSP00000359892:p.Arg146His	Somatic		Capture	SOLID	Phase_I	75481193	NM_152697	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270806	0.40194	2.27E-4	0.0	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.27104	1.69;1.69;2.36	5.07	2.14	0.27477	.	0.631700	0.16943	N	0.193215	T	0.08626	0.0214	L	0.52573	1.65	0.24652	N	0.993511	B;B;B;P;B	0.36599	0.425;0.425;0.284;0.56;0.427	B;B;B;B;B	0.32090	0.046;0.066;0.046;0.14;0.058	T	0.10753	-1.0616	10	0.44086	T	0.13	0.009	8.7123	0.34391	0.0:0.6837:0.0:0.3163	.	140;185;146;146;185	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	H	146;185;146;16;139	ENSP00000359896:R146H;ENSP00000359892:R146H;ENSP00000443090:R16H	ENSP00000359892:R146H	R	-	2	0	SLC44A5	75481193	0.049000	0.20398	0.442000	0.26870	0.644000	0.38419	0.193000	0.17116	0.649000	0.30751	0.655000	0.94253	CGT		0.378	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	
RABGGTB	5876	hgsc.bcm.edu	37	1	76260243	76260243	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:76260243G>A	ENST00000319942.3	+	9	975	c.904G>A	c.(904-906)Gga>Aga	p.G302R	RABGGTB_ENST00000535300.1_Missense_Mutation_p.G128R|MSH4_ENST00000263187.3_5'Flank|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	302					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.G302R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GTCACTTTTGGGAGAAGAACA	0.353																																					p.G302R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G904A	1						.						112.0	114.0	113.0					1																	76260243		2203	4300	6503	76032831	SO:0001583	missense	5876	exon9			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.904G>A	1.37:g.76260243G>A	ENSP00000317473:p.Gly302Arg	Somatic		Capture	SOLID	Phase_I	76032831	NM_004582	Q92697	Missense_Mutation	SNP	ENST00000319942.3	37	CCDS669.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757701	0.89843	.	.	ENSG00000137955	ENST00000535300;ENST00000319942	T;T	0.46063	0.88;0.88	5.55	4.64	0.57946	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.047167	0.85682	D	0.000000	T	0.46541	0.1398	M	0.84773	2.715	0.80722	D	1	D	0.56521	0.976	P	0.50136	0.632	T	0.56044	-0.8044	10	0.46703	T	0.11	-3.2507	14.558	0.68115	0.0703:0.0:0.9297:0.0	.	302	P53611	PGTB2_HUMAN	R	128;302	ENSP00000440452:G128R;ENSP00000317473:G302R	ENSP00000317473:G302R	G	+	1	0	RABGGTB	76032831	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.568000	0.98166	1.484000	0.48361	0.563000	0.77884	GGA		0.353	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582	
RABGGTB	5876	hgsc.bcm.edu	37	1	76260329	76260329	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:76260329G>A	ENST00000319942.3	+	9	1061	c.990G>A	c.(988-990)gtG>gtA	p.V330V	RABGGTB_ENST00000535300.1_Silent_p.V156V|MSH4_ENST00000263187.3_5'Flank|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	330					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.V330V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CTGAGCTAGTGAGCTAGATTC	0.358																																					p.V330V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G990A	1						.						112.0	110.0	111.0					1																	76260329		2203	4300	6503	76032917	SO:0001819	synonymous_variant	5876	exon9			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.990G>A	1.37:g.76260329G>A		Somatic		Capture	SOLID	Phase_I	76032917	NM_004582	Q92697	Silent	SNP	ENST00000319942.3	37	CCDS669.1																																																																																				0.358	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582	
PIGK	10026	hgsc.bcm.edu	37	1	77635002	77635002	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:77635002C>A	ENST00000370812.3	-	4	341	c.318G>T	c.(316-318)aaG>aaT	p.K106N	PIGK_ENST00000445065.1_Intron|PIGK_ENST00000478391.1_Intron|PIGK_ENST00000370813.5_Intron|PIGK_ENST00000359130.1_Missense_Mutation_p.K106N	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	106					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)	p.K106N(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GTTCCATATTCTTGTGACTAA	0.353																																					p.K106N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G318T	1						.						110.0	95.0	100.0					1																	77635002		2203	4298	6501	77407590	SO:0001583	missense	10026	exon4			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.318G>T	1.37:g.77635002C>A	ENSP00000359848:p.Lys106Asn	Somatic		Capture	SOLID	Phase_I	77407590	NM_005482	B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	CCDS674.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900105	0.33535	.	.	ENSG00000142892	ENST00000370812;ENST00000359130	T;T	0.47869	0.83;0.84	5.29	2.03	0.26663	.	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	L	0.46614	1.455	0.80722	D	1	B;B	0.30870	0.049;0.298	B;B	0.29663	0.035;0.105	T	0.07102	-1.0790	10	0.56958	D	0.05	-11.2862	6.7358	0.23409	0.0:0.5026:0.0:0.4974	.	106;106	A6NEM5;Q92643	.;GPI8_HUMAN	N	106	ENSP00000359848:K106N;ENSP00000352041:K106N	ENSP00000352041:K106N	K	-	3	2	PIGK	77407590	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.578000	0.23773	0.580000	0.29522	0.655000	0.94253	AAG		0.353	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482	
USP33	23032	hgsc.bcm.edu	37	1	78167057	78167057	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:78167057C>T	ENST00000370793.1	-	23	2945	c.2599G>A	c.(2599-2601)Gga>Aga	p.G867R	USP33_ENST00000370794.3_Missense_Mutation_p.G836R|USP33_ENST00000357428.1_Missense_Mutation_p.G867R	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	867	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G867R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CACTTACCTCCATCTTTACCC	0.348																																					p.G867R	Melanoma(152;72 1870 11110 26780 42647)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2599A	1						.						133.0	147.0	142.0					1																	78167057		2203	4300	6503	77939645	SO:0001583	missense	23032	exon23			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2599G>A	1.37:g.78167057C>T	ENSP00000359829:p.Gly867Arg	Somatic		Capture	SOLID	Phase_I	77939645	NM_015017	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.408393	0.25378	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428	T;T;T	0.09538	2.97;2.97;2.97	4.94	4.94	0.65067	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.161847	0.53938	D	0.000048	T	0.02455	0.0075	N	0.16790	0.44	0.39910	D	0.974012	P	0.34909	0.475	B	0.35770	0.21	T	0.46992	-0.9151	10	0.23891	T	0.37	.	6.7596	0.23532	0.0:0.7749:0.0:0.2251	.	867	Q8TEY7	UBP33_HUMAN	R	836;867;867	ENSP00000359830:G836R;ENSP00000359829:G867R;ENSP00000350009:G867R	ENSP00000350009:G867R	G	-	1	0	USP33	77939645	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.804000	0.55568	2.448000	0.82819	0.484000	0.47621	GGA		0.348	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017	
RPF1	80135	hgsc.bcm.edu	37	1	84946675	84946676	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	AG	AG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:84946675_84946676delAG	ENST00000370654.5	+	2	280_281	c.265_266delAG	c.(265-267)agafs	p.R89fs	RPF1_ENST00000370656.1_Frame_Shift_Del_p.R89fs	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	89					rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.E90fs*5(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TAAAAAAGAAAGAGAGGCTCTT	0.302																																					p.89_89del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.265_266del	1						.																																			84719264	SO:0001589	frameshift_variant	80135	exon2			AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.265_266delAG	1.37:g.84946679_84946680delAG	ENSP00000359688:p.Arg89fs	Somatic		Capture	SOLID	Phase_I	84719263	NM_025065	Q5VSK7|Q6AHX1|Q8WXZ8	Frame_Shift_Del	DEL	ENST00000370654.5	37	CCDS695.1																																																																																				0.302	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065	
CTBS	1486	hgsc.bcm.edu	37	1	85029489	85029489	+	Missense_Mutation	SNP	T	T	C	rs148638389		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:85029489T>C	ENST00000370630.5	-	5	772	c.724A>G	c.(724-726)Att>Gtt	p.I242V	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	242					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)	p.I242V(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TTAGGATTAATGCTCATCTTG	0.358																																					p.I242V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A724G	1						.						97.0	94.0	95.0					1																	85029489		2203	4296	6499	84802077	SO:0001583	missense	1486	exon5			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.724A>G	1.37:g.85029489T>C	ENSP00000359664:p.Ile242Val	Somatic		Capture	SOLID	Phase_I	84802077	NM_004388	Q5VX50	Missense_Mutation	SNP	ENST00000370630.5	37	CCDS698.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935667	0.52972	.	.	ENSG00000117151	ENST00000370630	T	0.04156	3.69	5.72	5.72	0.89469	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.03695	0.0105	M	0.70275	2.135	0.54753	D	0.999985	B	0.32604	0.377	B	0.38880	0.284	T	0.09122	-1.0689	10	0.06236	T	0.91	-12.1756	16.0168	0.80445	0.0:0.0:0.0:1.0	.	242	Q01459	DIAC_HUMAN	V	242	ENSP00000359664:I242V	ENSP00000359659:I151V	I	-	1	0	CTBS	84802077	1.000000	0.71417	0.995000	0.50966	0.582000	0.36321	4.296000	0.59055	2.194000	0.70268	0.528000	0.53228	ATT		0.358	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388	
MCOLN3	55283	hgsc.bcm.edu	37	1	85510878	85510878	+	Nonsense_Mutation	SNP	G	G	A	rs367581694		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:85510878G>A	ENST00000370589.2	-	2	218	c.166C>T	c.(166-168)Cga>Tga	p.R56*	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Nonsense_Mutation_p.R56*|MCOLN3_ENST00000370587.1_Nonsense_Mutation_p.R56*	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	56					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R56*(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TTTCTACCTCGAGCCCAGAAC	0.403																																					p.R56X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C166T	1						.						90.0	91.0	91.0					1																	85510878		2203	4300	6503	85283466	SO:0001587	stop_gained	55283	exon2			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.166C>T	1.37:g.85510878G>A	ENSP00000359621:p.Arg56*	Somatic		Capture	SOLID	Phase_I	85283466	NM_018298	Q5T4H5|Q5T4H6|Q9NV09	Nonsense_Mutation	SNP	ENST00000370589.2	37	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	37	6.500865	0.97616	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5127	0.95148	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	ENSP00000304843:R56X	R	-	1	2	MCOLN3	85283466	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.366000	0.52343	2.614000	0.88457	0.491000	0.48974	CGA		0.403	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298	
GBP6	163351	hgsc.bcm.edu	37	1	89847532	89847532	+	Splice_Site	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:89847532T>C	ENST00000370456.4	+	7	1244	c.1151T>C	c.(1150-1152)aTg>aCg	p.M384T	GBP6_ENST00000535065.1_Splice_Site_p.M254T	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	384					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.M384T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AAGAAGTTCATGGTAATTTGC	0.448																																					p.M384T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1151C	1						.						75.0	66.0	69.0					1																	89847532		2203	4300	6503	89620120	SO:0001630	splice_region_variant	163351	exon7			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1152+1T>C	1.37:g.89847532T>C		Somatic		Capture	SOLID	Phase_I	89620120	NM_198460	A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	CCDS723.1	.	.	.	.	.	.	.	.	.	.	T	7.945	0.743643	0.15642	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.01933	4.55;4.55	4.75	2.32	0.28847	Guanylate-binding protein, C-terminal (3);	0.325389	0.26173	N	0.025912	T	0.00637	0.0021	L	0.41492	1.28	0.09310	N	0.999996	B	0.14805	0.011	B	0.25759	0.063	T	0.49551	-0.8928	10	0.20046	T	0.44	-5.0278	3.7192	0.08449	0.3349:0.0946:0.0:0.5705	.	384	Q6ZN66	GBP6_HUMAN	T	355;384;254	ENSP00000359485:M384T;ENSP00000442530:M254T	ENSP00000359485:M384T	M	+	2	0	GBP6	89620120	0.069000	0.21087	0.326000	0.25389	0.051000	0.14879	0.073000	0.14640	0.164000	0.19529	0.477000	0.44152	ATG		0.448	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460	Missense_Mutation
TMEM56	148534	hgsc.bcm.edu	37	1	95657366	95657366	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:95657366T>C	ENST00000370203.4	+	7	1025	c.734T>C	c.(733-735)aTc>aCc	p.I245T	RP11-57H12.3_ENST00000419846.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron|RP11-57H12.3_ENST00000421762.1_RNA	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	245	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)		p.I245T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		ATCAAAGTCATCTCTCACATC	0.363																																					p.I245T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T734C	1						.						120.0	111.0	114.0					1																	95657366		2203	4300	6503	95429954	SO:0001583	missense	148534	exon7				CCDS753.1	1p21.3	2008-02-05			ENSG00000152078	ENSG00000152078			26477	protein-coding gene	gene with protein product							Standard	NM_152487		Approved	FLJ31842	uc001drb.3	Q96MV1	OTTHUMG00000010847	ENST00000370203.4:c.734T>C	1.37:g.95657366T>C	ENSP00000359222:p.Ile245Thr	Somatic		Capture	SOLID	Phase_I	95429954	NM_152487	B2RPI2|D3DT48	Missense_Mutation	SNP	ENST00000370203.4	37	CCDS753.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787879	0.49997	.	.	ENSG00000152078	ENST00000370203	.	.	.	6.06	3.73	0.42828	TRAM/LAG1/CLN8 homology domain (2);	0.254873	0.39210	N	0.001429	T	0.22742	0.0549	M	0.65975	2.015	0.32369	N	0.55618	P	0.44627	0.839	B	0.33042	0.157	T	0.10109	-1.0644	8	0.62326	D	0.03	-2.886	8.2152	0.31507	0.12:0.0645:0.0:0.8154	.	245	Q96MV1	TMM56_HUMAN	T	245	.	ENSP00000359222:I245T	I	+	2	0	TMEM56	95429954	1.000000	0.71417	0.958000	0.39756	0.839000	0.47603	4.163000	0.58183	0.517000	0.28361	0.528000	0.53228	ATC		0.363	TMEM56-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029935.1	NM_152487	
LPPR4	9890	hgsc.bcm.edu	37	1	99772047	99772047	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:99772047C>T	ENST00000370185.3	+	7	2270	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	LPPR4_ENST00000457765.1_Silent_p.S533S|LPPR4_ENST00000370184.1_Silent_p.S433S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		591					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.S591S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCCTCCAAAGCAGCCCCAAGA	0.537																																					p.S591S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1773T	1						.						67.0	66.0	66.0					1																	99772047		2203	4300	6503	99544635	SO:0001819	synonymous_variant	9890	exon7																														ENST00000370185.3:c.1773C>T	1.37:g.99772047C>T		Somatic		Capture	SOLID	Phase_I	99544635	NM_014839	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	4.720	0.133955	0.09032	.	.	ENSG00000117600	ENST00000263178	.	.	.	5.9	3.04	0.35103	.	.	.	.	.	T	0.45657	0.1353	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40478	-0.9561	4	.	.	.	-32.9485	9.3659	0.38223	0.0:0.6697:0.0:0.3303	.	.	.	.	V	557	.	.	A	+	2	0	RP4-788L13.1	99544635	0.994000	0.37717	1.000000	0.80357	0.929000	0.56500	0.376000	0.20535	0.868000	0.35678	-0.119000	0.15052	GCA		0.537	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		
POGZ	23126	hgsc.bcm.edu	37	1	151377873	151377874	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	CA	CA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:151377873_151377874delCA	ENST00000271715.2	-	19	3951_3952	c.3637_3638delTG	c.(3637-3639)tggfs	p.W1213fs	POGZ_ENST00000540984.1_Frame_Shift_Del_p.W575fs|POGZ_ENST00000531094.1_Frame_Shift_Del_p.W1151fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.W1160fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.W1169fs|POGZ_ENST00000368863.2_Frame_Shift_Del_p.W1118fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.W1204fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.W1160fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1213	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W1169fs*31(1)|p.W1213fs*31(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGCTTCTGCCACACTCGAGTT	0.52																																					p.1118_1118del												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.3352_3353del	1						.																																			149644498	SO:0001589	frameshift_variant	23126	exon17			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3637_3638delTG	1.37:g.151377875_151377876delCA	ENSP00000271715:p.Trp1213fs	Somatic		Capture	SOLID	Phase_I	149644497	NM_145796	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Frame_Shift_Del	DEL	ENST00000271715.2	37	CCDS997.1																																																																																				0.520	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171	
HRNR	388697	hgsc.bcm.edu	37	1	152193387	152193388	+	Frame_Shift_Del	DEL	GC	GC	-	rs181939236	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	GC	GC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:152193387_152193388delGC	ENST00000368801.2	-	3	792_793	c.717_718delGC	c.(715-720)gggcagfs	p.Q240fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	240					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.Q240fs*23(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGAGGACTGCCCTGAGCTAG	0.559																																					p.239_240del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.717_718del	1						.																																			150460012	SO:0001589	frameshift_variant	388697	exon3			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.717_718delGC	1.37:g.152193387_152193388delGC	ENSP00000357791:p.Gln240fs	Somatic		Capture	SOLID	Phase_I	150460011	NM_001009931	Q5DT20|Q5U1F4	Frame_Shift_Del	DEL	ENST00000368801.2	37	CCDS30859.1																																																																																				0.559	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
FLG2	388698	hgsc.bcm.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	TG	TG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																					p.1901_1902del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.5703_5704del	1						.																																			150591183	SO:0001589	frameshift_variant	388698	exon3			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs	Somatic		Capture	SOLID	Phase_I	150591182	NM_001014342	Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
ASH1L	55870	hgsc.bcm.edu	37	1	155308000	155308000	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:155308000delT	ENST00000368346.3	-	27	9337	c.8698delA	c.(8698-8700)acafs	p.T2900fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.T2895fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2900					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.T2895fs*44(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTTCCTCTGTTTTTTTTTCA	0.522																																					p.T2895fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.8683delA	1						.						218.0	183.0	195.0					1																	155308000		2203	4300	6503	153574624	SO:0001589	frameshift_variant	55870	exon27			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8698delA	1.37:g.155308000delT	ENSP00000357330:p.Thr2900fs	Somatic		Capture	SOLID	Phase_I	153574624	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL	ENST00000368346.3	37																																																																																					0.522	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
WDR64	128025	hgsc.bcm.edu	37	1	241964463	241964463	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr1:241964463T>A	ENST00000366552.2	+	27	3399	c.3192T>A	c.(3190-3192)aaT>aaA	p.N1064K	WDR64_ENST00000437684.2_Missense_Mutation_p.N897K	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1064								p.N617K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGAAAAAAAATTTAGTCCCAC	0.383																																					p.N1064K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3192A	1						.						85.0	90.0	88.0					1																	241964463		2203	4300	6503	240031086	SO:0001583	missense	128025	exon27			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3192T>A	1.37:g.241964463T>A	ENSP00000355510:p.Asn1064Lys	Somatic		Capture	SOLID	Phase_I	240031086	NM_144625	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.22|13.22	2.171138|2.171138	0.38315|0.38315	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000425826|ENST00000366552;ENST00000437684;ENST00000414635	.|T;T;T	.|0.44482	.|1.16;0.92;0.94	5.22|5.22	2.89|2.89	0.33648|0.33648	.|.	.|1.064900	.|0.07234	.|N	.|0.863136	T|T	0.39036|0.39036	0.1063|0.1063	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32245	.|0.361;0.18	.|B;B	.|0.28139	.|0.086;0.04	T|T	0.34403|0.34403	-0.9830|-0.9830	5|10	.|0.72032	.|D	.|0.01	-5.824|-5.824	6.8671|6.8671	0.24100|0.24100	0.0:0.1862:0.0:0.8138|0.0:0.1862:0.0:0.8138	.|.	.|1064;617	.|B1ANS9;D1MPS4	.|WDR64_HUMAN;.	N|K	543|1064;897;668	.|ENSP00000355510:N1064K;ENSP00000402446:N897K;ENSP00000406656:N668K	.|ENSP00000355510:N1064K	I|N	+|+	2|3	0|2	WDR64|WDR64	240031086|240031086	0.738000|0.738000	0.28186|0.28186	0.123000|0.123000	0.21794|0.21794	0.056000|0.056000	0.15407|0.15407	0.454000|0.454000	0.21827|0.21827	0.393000|0.393000	0.25203|0.25203	0.528000|0.528000	0.53228|0.53228	ATT|AAT		0.383	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
ANGPTL5	253935	hgsc.bcm.edu	37	11	101778562	101778562	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:101778562A>C	ENST00000334289.3	-	2	674	c.79T>G	c.(79-81)Tgt>Ggt	p.C27G		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	27						extracellular region (GO:0005576)		p.C27G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TGATGTACACAGTTACCTTGT	0.294																																					p.C27G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T79G	11						.						51.0	53.0	52.0					11																	101778562		2203	4296	6499	101283772	SO:0001583	missense	253935	exon2			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.79T>G	11.37:g.101778562A>C	ENSP00000335255:p.Cys27Gly	Somatic		Capture	SOLID	Phase_I	101283772	NM_178127	A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	A	9.403	1.078596	0.20227	.	.	ENSG00000187151	ENST00000334289;ENST00000534527	T;T	0.55760	0.5;0.72	5.24	4.12	0.48240	.	0.419393	0.23395	N	0.048654	T	0.42921	0.1224	L	0.51422	1.61	0.09310	N	1	B	0.22604	0.072	B	0.20955	0.032	T	0.37126	-0.9719	10	0.45353	T	0.12	.	6.0557	0.19811	0.6978:0.2148:0.0874:0.0	.	27	Q86XS5	ANGL5_HUMAN	G	27	ENSP00000335255:C27G;ENSP00000433562:C27G	ENSP00000335255:C27G	C	-	1	0	ANGPTL5	101283772	0.009000	0.17119	0.029000	0.17559	0.759000	0.43091	0.518000	0.22847	0.953000	0.37825	0.533000	0.62120	TGT		0.294	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127	
KIAA1377	57562	hgsc.bcm.edu	37	11	101818793	101818793	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:101818793G>T	ENST00000263468.8	+	4	696	c.426G>T	c.(424-426)gaG>gaT	p.E142D		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	142								p.E142D(1)		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)		CATTAGAAGAGGCCCTCAAAC	0.353																																					p.E142D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G426T	11						.						80.0	80.0	80.0					11																	101818793		2203	4299	6502	101324003	SO:0001583	missense	57562	exon4			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.426G>T	11.37:g.101818793G>T	ENSP00000263468:p.Glu142Asp	Somatic		Capture	SOLID	Phase_I	101324003	NM_020802	Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580362	0.65992	.	.	ENSG00000110318	ENST00000263468	T	0.09445	2.98	5.4	0.104	0.14531	.	0.121727	0.53938	N	0.000047	T	0.09512	0.0234	M	0.64404	1.975	0.80722	D	1	P	0.36354	0.549	B	0.34722	0.188	T	0.14504	-1.0470	10	0.40728	T	0.16	-7.6583	4.6168	0.12430	0.4084:0.0:0.4497:0.1419	.	142	Q9P2H0	K1377_HUMAN	D	142	ENSP00000263468:E142D	ENSP00000263468:E142D	E	+	3	2	KIAA1377	101324003	0.995000	0.38212	0.995000	0.50966	0.986000	0.74619	0.082000	0.14847	-0.163000	0.10946	-0.140000	0.14226	GAG		0.353	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802	
KBTBD3	143879	hgsc.bcm.edu	37	11	105924905	105924905	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:105924905C>T	ENST00000526793.1	-	3	670	c.511G>A	c.(511-513)Gat>Aat	p.D171N	KBTBD3_ENST00000534815.1_Missense_Mutation_p.D92N|KBTBD3_ENST00000531837.1_Missense_Mutation_p.D171N	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	167	BACK.							p.D171N(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AATGCATGATCAAACAAACTG	0.303																																					p.D171N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G511A	11						.						37.0	38.0	38.0					11																	105924905		2200	4296	6496	105430115	SO:0001583	missense	143879	exon3			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.511G>A	11.37:g.105924905C>T	ENSP00000436262:p.Asp171Asn	Somatic		Capture	SOLID	Phase_I	105430115	NM_152433	Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	C	7.530	0.658505	0.14645	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.68765	-0.35;-0.35;-0.35	5.62	3.72	0.42706	BTB/Kelch-associated (2);	0.526619	0.23866	N	0.043786	T	0.46151	0.1378	N	0.25332	0.735	0.20764	N	0.999857	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.28038	-1.0056	10	0.02654	T	1	.	10.0031	0.41940	0.0:0.7785:0.0:0.2215	.	171;167	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	N	92;171;171	ENSP00000431910:D92N;ENSP00000436262:D171N;ENSP00000432163:D171N	ENSP00000436262:D171N	D	-	1	0	KBTBD3	105430115	0.994000	0.37717	0.997000	0.53966	0.972000	0.66771	0.925000	0.28791	0.703000	0.31848	0.650000	0.86243	GAT		0.303	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433	
EXPH5	23086	hgsc.bcm.edu	37	11	108380379	108380379	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:108380379G>A	ENST00000265843.4	-	6	5965	c.5855C>T	c.(5854-5856)cCa>cTa	p.P1952L	EXPH5_ENST00000443411.1_Missense_Mutation_p.P1764L|EXPH5_ENST00000525344.1_Missense_Mutation_p.P1945L|EXPH5_ENST00000428840.1_Missense_Mutation_p.P1876L	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1952					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.P1952L(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CGGTTCACTTGGAGATAAGCC	0.443																																					p.P1952L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5855T	11						.						123.0	123.0	123.0					11																	108380379		2201	4298	6499	107885589	SO:0001583	missense	23086	exon6				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5855C>T	11.37:g.108380379G>A	ENSP00000265843:p.Pro1952Leu	Somatic		Capture	SOLID	Phase_I	107885589	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140024	0.37728	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.93	3.97	0.46021	.	0.195383	0.36703	N	0.002445	T	0.47525	0.1450	L	0.27053	0.805	0.32537	N	0.534229	B	0.27997	0.197	B	0.25614	0.062	T	0.53872	-0.8377	10	0.35671	T	0.21	-2.3073	12.4937	0.55916	0.139:0.0:0.861:0.0	.	1952	Q8NEV8	EXPH5_HUMAN	L	1952;1876;1764;1945;782	ENSP00000265843:P1952L;ENSP00000391966:P1876L;ENSP00000411390:P1764L;ENSP00000432546:P1945L	ENSP00000265843:P1952L	P	-	2	0	EXPH5	107885589	0.996000	0.38824	0.013000	0.15412	0.808000	0.45660	2.543000	0.45752	0.756000	0.33013	0.655000	0.94253	CCA		0.443	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
SIK2	23235	hgsc.bcm.edu	37	11	111575829	111575829	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:111575829G>A	ENST00000304987.3	+	8	1240	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	356					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R356Q(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CGCCAGCGTCGGCCTAGCACC	0.488																																					p.R356Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1067A	11						.						103.0	95.0	97.0					11																	111575829		2201	4297	6498	111081039	SO:0001583	missense	23235	exon8			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1067G>A	11.37:g.111575829G>A	ENSP00000305976:p.Arg356Gln	Somatic		Capture	SOLID	Phase_I	111081039	NM_015191	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	G	36	5.753359	0.96890	.	.	ENSG00000170145	ENST00000304987	T	0.77489	-1.1	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.67700	2.07	0.58432	D	0.999999	P	0.48350	0.909	B	0.40741	0.339	T	0.80437	-0.1383	10	0.51188	T	0.08	.	19.6797	0.95957	0.0:0.0:1.0:0.0	.	356	Q9H0K1	SIK2_HUMAN	Q	356	ENSP00000305976:R356Q	ENSP00000305976:R356Q	R	+	2	0	SIK2	111081039	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.476000	0.97823	2.758000	0.94735	0.563000	0.77884	CGG		0.488	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191	
HTR3A	3359	hgsc.bcm.edu	37	11	113856750	113856750	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:113856750C>T	ENST00000504030.2	+	6	1003	c.558C>T	c.(556-558)aaC>aaT	p.N186N	HTR3A_ENST00000375498.2_Silent_p.N192N|HTR3A_ENST00000299961.5_Silent_p.N171N|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000506841.2_Silent_p.N186N|HTR3A_ENST00000355556.2_Silent_p.N192N			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	186					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.N186N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	AGGACATCAACATCTCTTTGT	0.537																																					p.N192N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C576T	11						.						199.0	209.0	205.0					11																	113856750		2201	4296	6497	113361960	SO:0001819	synonymous_variant	3359	exon6			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.558C>T	11.37:g.113856750C>T		Somatic		Capture	SOLID	Phase_I	113361960	NM_000869	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37																																																																																					0.537	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	
DPAGT1	1798	hgsc.bcm.edu	37	11	118981640	118981640	+	5'Flank	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:118981640G>A	ENST00000409993.2	-	0	0				C2CD2L_ENST00000528586.1_5'Flank|C2CD2L_ENST00000336702.3_Silent_p.T218T			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)	p.T218T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TCAGCCTAACGGTGCTTCCCA	0.577																																					p.T218T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G654A	11						.						105.0	105.0	105.0					11																	118981640		2200	4295	6495	118486850	SO:0001631	upstream_gene_variant	9854	exon4			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533		11.37:g.118981640G>A	Exception_encountered	Somatic		Capture	SOLID	Phase_I	118486850	NM_014807	O15216|Q86WV9|Q9BWE6	Silent	SNP	ENST00000409993.2	37	CCDS8411.1																																																																																				0.577	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382	
TECTA	7007	hgsc.bcm.edu	37	11	121008522	121008522	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:121008522G>T	ENST00000392793.1	+	11	3605	c.3334G>T	c.(3334-3336)Gat>Tat	p.D1112Y	TECTA_ENST00000264037.2_Missense_Mutation_p.D1112Y			O75443	TECTA_HUMAN	tectorin alpha	1112	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.D1112Y(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTCACCTTTGATGGCTTCCC	0.572																																					p.D1112Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3334T	11						.						123.0	89.0	100.0					11																	121008522		2203	4299	6502	120513732	SO:0001583	missense	7007	exon10			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3334G>T	11.37:g.121008522G>T	ENSP00000376543:p.Asp1112Tyr	Somatic		Capture	SOLID	Phase_I	120513732	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618283	0.66787	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.78816	-1.21;-1.21	5.23	5.23	0.72850	von Willebrand factor, type D domain (3);	0.171897	0.52532	D	0.000080	D	0.90521	0.7030	M	0.91663	3.23	0.43902	D	0.996536	D	0.71674	0.998	D	0.68943	0.961	D	0.92621	0.6108	10	0.87932	D	0	.	18.8226	0.92103	0.0:0.0:1.0:0.0	.	1112	O75443	TECTA_HUMAN	Y	1112	ENSP00000376543:D1112Y;ENSP00000264037:D1112Y	ENSP00000264037:D1112Y	D	+	1	0	TECTA	120513732	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.295000	0.65692	2.430000	0.82344	0.655000	0.94253	GAT		0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
UBASH3B	84959	hgsc.bcm.edu	37	11	122650279	122650279	+	Silent	SNP	G	G	A	rs200829525		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:122650279G>A	ENST00000284273.5	+	4	852	c.477G>A	c.(475-477)tcG>tcA	p.S159S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	159					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.S159S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GTAAGTTCTCGGCCCCGCTGC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19033	0.001		0.0	False		,,,				2504	0.0				p.S159S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G477A	11						.						100.0	94.0	96.0					11																	122650279		2202	4299	6501	122155489	SO:0001819	synonymous_variant	84959	exon4			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.477G>A	11.37:g.122650279G>A		Somatic		Capture	SOLID	Phase_I	122155489	NM_032873	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	CCDS31694.1																																																																																				0.567	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873	
CRTAM	56253	hgsc.bcm.edu	37	11	122738802	122738802	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:122738802G>A	ENST00000227348.4	+	9	1093	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	CRTAM_ENST00000533709.1_Missense_Mutation_p.G150D	NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule									p.G349D(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GAGAAAAATGGCCAATGTAAG	0.343																																					p.G349D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1046A	11						.						108.0	91.0	97.0					11																	122738802		2202	4299	6501	122244012	SO:0001583	missense	56253	exon9			AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.1046G>A	11.37:g.122738802G>A	ENSP00000227348:p.Gly349Asp	Somatic		Capture	SOLID	Phase_I	122244012	NM_019604		Missense_Mutation	SNP	ENST00000227348.4	37	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246593	0.22796	.	.	ENSG00000109943	ENST00000227348;ENST00000533709	T;T	0.56444	0.46;1.48	4.89	2.99	0.34606	.	0.717915	0.13906	N	0.354545	T	0.47544	0.1451	L	0.58101	1.795	0.28147	N	0.929546	B;B	0.13594	0.008;0.002	B;B	0.11329	0.006;0.002	T	0.41592	-0.9500	10	0.41790	T	0.15	.	9.5745	0.39450	0.1766:0.0:0.8234:0.0	.	150;349	O95727-2;O95727	.;CRTAM_HUMAN	D	349;150	ENSP00000227348:G349D;ENSP00000433728:G150D	ENSP00000227348:G349D	G	+	2	0	CRTAM	122244012	0.008000	0.16893	0.125000	0.21846	0.866000	0.49608	1.409000	0.34680	0.454000	0.26884	0.563000	0.77884	GGC		0.343	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604	
OR10S1	219873	hgsc.bcm.edu	37	11	123848246	123848246	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:123848246A>G	ENST00000531945.1	-	1	242	c.153T>C	c.(151-153)acT>acC	p.T51T		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T51T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCCCAGCCACAGTGATGCTGT	0.537																																					p.T51T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T153C	11						.						51.0	49.0	50.0					11																	123848246		2202	4299	6501	123353456	SO:0001819	synonymous_variant	219873	exon1			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.153T>C	11.37:g.123848246A>G		Somatic		Capture	SOLID	Phase_I	123353456	NM_001004474	B9EH43|Q6IEV3|Q96R78	Silent	SNP	ENST00000531945.1	37	CCDS31701.1																																																																																				0.537	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474	
VWA5A	4013	hgsc.bcm.edu	37	11	123988961	123988961	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:123988961C>T	ENST00000456829.2	+	5	563	c.312C>T	c.(310-312)agC>agT	p.S104S	VWA5A_ENST00000392744.4_Silent_p.S120S|VWA5A_ENST00000392748.1_Silent_p.S104S|VWA5A_ENST00000449321.1_Silent_p.S104S|VWA5A_ENST00000361352.5_Silent_p.S104S|VWA5A_ENST00000360334.4_Silent_p.S104S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	104	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AGGGGGACAGCAGCTCCAGGG	0.582																																					p.S104S												.	.	0			c.C312T	11						.						69.0	72.0	71.0					11																	123988961		2201	4299	6500	123494171	SO:0001819	synonymous_variant	4013	exon4			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.312C>T	11.37:g.123988961C>T		Somatic		Capture	SOLID	Phase_I	123494171	NM_014622	Q6UN19|Q6UN20|Q9BVF8	Silent	SNP	ENST00000456829.2	37	CCDS8444.1																																																																																				0.582	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
PANX3	116337	hgsc.bcm.edu	37	11	124487188	124487188	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:124487188C>T	ENST00000284288.2	+	3	410	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	115					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)	p.L115L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTACTCCCTGCTGGCCCTGGC	0.642																																					p.L115L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C343T	11						.						39.0	33.0	35.0					11																	124487188		2201	4299	6500	123992398	SO:0001819	synonymous_variant	116337	exon3			AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.343C>T	11.37:g.124487188C>T		Somatic		Capture	SOLID	Phase_I	123992398	NM_052959		Silent	SNP	ENST00000284288.2	37	CCDS8447.1																																																																																				0.642	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1		
ESAM	90952	hgsc.bcm.edu	37	11	124624203	124624203	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:124624203A>T	ENST00000278927.5	-	6	893	c.764T>A	c.(763-765)gTg>gAg	p.V255E	ESAM_ENST00000442070.2_Missense_Mutation_p.V76E|VSIG2_ENST00000326621.5_5'Flank|VSIG2_ENST00000403470.1_5'Flank	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	255					blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.V255E(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CAGGGTACCCACAACAGCTCC	0.612																																					p.V255E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T764A	11						.						39.0	51.0	47.0					11																	124624203		2201	4299	6500	124129413	SO:0001583	missense	90952	exon6			AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.764T>A	11.37:g.124624203A>T	ENSP00000278927:p.Val255Glu	Somatic		Capture	SOLID	Phase_I	124129413	NM_138961	B4DVN8|Q96T50	Missense_Mutation	SNP	ENST00000278927.5	37	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.862089	0.91511	.	.	ENSG00000149564	ENST00000442070;ENST00000444566;ENST00000278927;ENST00000435477	T;T;T;T	0.76186	1.03;1.03;1.16;-1.0	5.62	5.62	0.85841	.	0.076185	0.56097	D	0.000038	D	0.84293	0.5440	M	0.67700	2.07	0.51767	D	0.999931	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.997;0.972;0.96	D	0.85969	0.1475	10	0.87932	D	0	.	13.3431	0.60555	1.0:0.0:0.0:0.0	.	76;255;128	B4DVN8;Q96AP7;C9JIE7	.;ESAM_HUMAN;.	E	76;76;255;128	ENSP00000410351:V76E;ENSP00000406689:V76E;ENSP00000278927:V255E;ENSP00000415893:V128E	ENSP00000278927:V255E	V	-	2	0	ESAM	124129413	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.989000	0.70587	2.133000	0.65898	0.533000	0.62120	GTG		0.612	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961	
TOLLIP	54472	hgsc.bcm.edu	37	11	1307253	1307253	+	Missense_Mutation	SNP	C	C	T	rs149336361		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:1307253C>T	ENST00000317204.6	-	5	712	c.589G>A	c.(589-591)Gtt>Att	p.V197I	TOLLIP_ENST00000263646.7_Missense_Mutation_p.V169I|TOLLIP_ENST00000528719.1_5'Flank|TOLLIP_ENST00000542915.1_Missense_Mutation_p.V147I|TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000527886.1_Missense_Mutation_p.V128I|TOLLIP_ENST00000525159.1_Missense_Mutation_p.V136I	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein	197					autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte activation (GO:0045321)|phosphorylation (GO:0016310)|positive regulation of protein sumoylation (GO:0033235)|protein localization to endosome (GO:0036010)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|interleukin-1 receptor complex (GO:0045323)|interleukin-18 receptor complex (GO:0045092)|nuclear body (GO:0016604)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|signal transducer activity (GO:0004871)|Toll-like receptor binding (GO:0035325)	p.V197I(1)		large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		ACATAGCCAACGCCCTGCTGG	0.647																																					p.V197I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G589A	11						.	C	ILE/VAL	0,4388		0,0,2194	137.0	98.0	111.0		589	3.2	0.0	11	dbSNP_134	111	1,8589		0,1,4294	yes	missense	TOLLIP	NM_019009.3	29	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	benign	197/275	1307253	1,12977	2194	4295	6489	1263829	SO:0001583	missense	54472	exon5			AJ242972	CCDS7723.1	11p	2008-02-05			ENSG00000078902	ENSG00000078902			16476	protein-coding gene	gene with protein product		606277				9426216, 10854325	Standard	NM_019009		Approved	IL-1RAcPIP	uc001lte.3	Q9H0E2	OTTHUMG00000133333	ENST00000317204.6:c.589G>A	11.37:g.1307253C>T	ENSP00000314733:p.Val197Ile	Somatic		Capture	SOLID	Phase_I	1263829	NM_019009	B3KXC6|Q9H9E6|Q9UJ69	Missense_Mutation	SNP	ENST00000317204.6	37	CCDS7723.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714403	0.30413	0.0	1.16E-4	ENSG00000078902	ENST00000317204;ENST00000527886;ENST00000525159;ENST00000263646;ENST00000542915;ENST00000382211;ENST00000530541	T;T;T;T;T;T	0.50001	0.88;0.82;0.86;0.84;0.76;0.81	5.08	3.21	0.36854	.	0.064020	0.64402	D	0.000009	T	0.43144	0.1234	M	0.70275	2.135	0.43179	D	0.994995	B;B;B	0.19935	0.017;0.04;0.005	B;B;B	0.11329	0.006;0.003;0.001	T	0.28364	-1.0046	10	0.22706	T	0.39	-27.2396	9.6904	0.40125	0.0:0.7762:0.0:0.2238	.	136;147;197	F2Z2Y8;B3KR28;Q9H0E2	.;.;TOLIP_HUMAN	I	197;128;136;169;147;228;147	ENSP00000314733:V197I;ENSP00000434035:V128I;ENSP00000432668:V136I;ENSP00000263646:V169I;ENSP00000437404:V147I;ENSP00000434494:V147I	ENSP00000263646:V169I	V	-	1	0	TOLLIP	1263829	0.988000	0.35896	0.032000	0.17829	0.523000	0.34469	2.594000	0.46189	0.727000	0.32360	0.555000	0.69702	GTT		0.647	TOLLIP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257162.2	NM_019009	
SLC37A2	219855	hgsc.bcm.edu	37	11	124951790	124951790	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:124951790G>T	ENST00000403796.2	+	9	1174	c.873G>T	c.(871-873)gcG>gcT	p.A291A	SLC37A2_ENST00000407458.1_Silent_p.A291A|SLC37A2_ENST00000298280.5_Silent_p.A291A|SLC37A2_ENST00000308074.4_Silent_p.A291A	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	291					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.A291A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCTTTGGGGCGCTCCGGATCC	0.542																																					p.A291A	Melanoma(11;373 620 21213 26083 47768)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G873T	11						.						43.0	44.0	44.0					11																	124951790		2201	4299	6500	124457000	SO:0001819	synonymous_variant	219855	exon9			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.873G>T	11.37:g.124951790G>T		Somatic		Capture	SOLID	Phase_I	124457000	NM_001145290	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	37	CCDS44757.1																																																																																				0.542	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184	
ARHGAP32	9743	hgsc.bcm.edu	37	11	128868314	128868314	+	Silent	SNP	C	C	T	rs367782196		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:128868314C>T	ENST00000310343.9	-	11	1052	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	ARHGAP32_ENST00000527272.1_Silent_p.K2K|ARHGAP32_ENST00000392657.3_Silent_p.K2K|ARHGAP32_ENST00000524655.1_Silent_p.K277K	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	351					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.K2K(1)|p.K351K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTGGACGAGACTTCATGAATG	0.408																																					p.K2K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G6A	11						.	C	,	0,4402		0,0,2201	129.0	116.0	121.0		1053,6	6.1	1.0	11		121	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	ARHGAP32	NM_001142685.1,NM_014715.3	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	351/2088,2/1739	128868314	1,12995	2201	4297	6498	128373524	SO:0001819	synonymous_variant	9743	exon2			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1053G>A	11.37:g.128868314C>T		Somatic		Capture	SOLID	Phase_I	128373524	NM_014715	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	CCDS44769.1																																																																																				0.408	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
BARX2	8538	hgsc.bcm.edu	37	11	129321181	129321181	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:129321181G>A	ENST00000281437.4	+	4	820	c.724G>A	c.(724-726)Gag>Aag	p.E242K	BARX2_ENST00000531946.1_Missense_Mutation_p.E120K|BARX2_ENST00000526127.1_Missense_Mutation_p.E97K	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	242					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.E242K(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GGGGCAGGAGGAGCTCTGTGA	0.577																																					p.E242K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G724A	11						.						72.0	66.0	68.0					11																	129321181		2201	4297	6498	128826391	SO:0001583	missense	8538	exon4			AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.724G>A	11.37:g.129321181G>A	ENSP00000281437:p.Glu242Lys	Somatic		Capture	SOLID	Phase_I	128826391	NM_003658	O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	37	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816135	0.50527	.	.	ENSG00000043039	ENST00000281437;ENST00000526127;ENST00000531946	D;D;D	0.90324	-2.65;-2.23;-2.23	5.51	2.13	0.27403	.	1.157390	0.06039	N	0.654497	T	0.80644	0.4662	N	0.14661	0.345	0.28378	N	0.919693	B	0.02656	0.0	B	0.04013	0.001	T	0.65129	-0.6243	10	0.07325	T	0.83	.	8.8059	0.34938	0.1644:0.1393:0.6963:0.0	.	242	Q9UMQ3	BARX2_HUMAN	K	242;97;120	ENSP00000281437:E242K;ENSP00000451113:E97K;ENSP00000450418:E120K	ENSP00000281437:E242K	E	+	1	0	BARX2	128826391	1.000000	0.71417	0.002000	0.10522	0.243000	0.25628	2.019000	0.41001	0.673000	0.31224	-0.211000	0.12701	GAG		0.577	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658	
PRDM10	56980	hgsc.bcm.edu	37	11	129781985	129781985	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:129781985C>T	ENST00000360871.3	-	18	3208	c.2977G>A	c.(2977-2979)Gcc>Acc	p.A993T	PRDM10_ENST00000423662.2_Intron|PRDM10_ENST00000528746.1_Intron|PRDM10_ENST00000304538.6_Intron|PRDM10_ENST00000526082.1_Missense_Mutation_p.A911T|PRDM10_ENST00000358825.5_Missense_Mutation_p.A997T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	984	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.A993T(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGTACCTGGGCGGAGGACGGG	0.572																																					p.A997T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2989A	11						.						103.0	98.0	100.0					11																	129781985		2201	4297	6498	129287195	SO:0001583	missense	56980	exon19			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2977G>A	11.37:g.129781985C>T	ENSP00000354118:p.Ala993Thr	Somatic		Capture	SOLID	Phase_I	129287195	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	9.824	1.186544	0.21870	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000526082;ENST00000533431	T;T;T;T	0.11169	2.84;2.84;2.8;2.9	5.77	-1.41	0.08941	.	0.574766	0.19993	N	0.101512	T	0.04815	0.0130	N	0.12182	0.205	0.09310	N	0.999992	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.06405	0.001;0.002;0.001	T	0.31251	-0.9950	10	0.45353	T	0.12	-16.4417	5.8545	0.18712	0.3409:0.4857:0.0632:0.1101	.	907;993;911	B7ZL72;G3XAE5;Q9NQV6-5	.;.;.	T	997;993;911;710	ENSP00000351686:A997T;ENSP00000354118:A993T;ENSP00000432237:A911T;ENSP00000435940:A710T	ENSP00000351686:A997T	A	-	1	0	PRDM10	129287195	0.005000	0.15991	0.093000	0.20910	0.044000	0.14063	0.143000	0.16115	-0.087000	0.12528	-0.262000	0.10625	GCC		0.572	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	
RIC8A	60626	hgsc.bcm.edu	37	11	214305	214306	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	TA	TA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:214305_214306delTA	ENST00000526104.1	+	10	2895_2896	c.1551_1552delTA	c.(1549-1554)actatgfs	p.M518fs	RIC8A_ENST00000527696.1_Frame_Shift_Del_p.M512fs|RIC8A_ENST00000325207.5_Frame_Shift_Del_p.M524fs|RIC8A_ENST00000531541.1_3'UTR			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	518					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.M524fs*9(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTGCGAGACTATGGAGCAGCA	0.599																																					p.523_524del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1569_1570del	11						.																																			204306	SO:0001589	frameshift_variant	60626	exon10			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1551_1552delTA	11.37:g.214305_214306delTA	ENSP00000432008:p.Met518fs	Somatic		Capture	SOLID	Phase_I	204305	NM_021932	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Frame_Shift_Del	DEL	ENST00000526104.1	37																																																																																					0.599	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932	
STIM1	6786	hgsc.bcm.edu	37	11	4107753	4107753	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:4107753G>T	ENST00000300737.4	+	11	2090	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H	STIM1_ENST00000527651.1_Missense_Mutation_p.Q507H|STIM1_ENST00000533977.1_Missense_Mutation_p.Q334H	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	507					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)	p.Q507H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CGGAGCCACAGCATGGCCTGG	0.602																																					p.Q507H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1521T	11						.						49.0	42.0	44.0					11																	4107753		2201	4298	6499	4064329	SO:0001583	missense	6786	exon11			BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1521G>T	11.37:g.4107753G>T	ENSP00000300737:p.Gln507His	Somatic		Capture	SOLID	Phase_I	4064329	NM_003156	E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	CCDS7749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.39|17.39	3.377797|3.377797	0.61735|0.61735	.|.	.|.	ENSG00000167323|ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977|ENST00000526596	T;T;T|.	0.52983|.	0.64;0.64;0.64|.	5.33|5.33	2.17|2.17	0.27698|0.27698	.|.	0.175418|.	0.52532|.	D|.	0.000078|.	T|T	0.52141|0.52141	0.1716|0.1716	L|L	0.40543|0.40543	1.245|1.245	0.44104|0.44104	D|D	0.996871|0.996871	P;P|.	0.50943|.	0.679;0.94|.	B;B|.	0.41571|.	0.201;0.36|.	T|T	0.34850|0.34850	-0.9812|-0.9812	10|5	0.46703|.	T|.	0.11|.	-0.4949|-0.4949	9.0788|9.0788	0.36538|0.36538	0.2653:0.0:0.7347:0.0|0.2653:0.0:0.7347:0.0	.|.	507;507|.	E9PQJ4;Q13586|.	.;STIM1_HUMAN|.	H|I	507;507;334|269	ENSP00000300737:Q507H;ENSP00000436208:Q507H;ENSP00000434767:Q334H|.	ENSP00000300737:Q507H|.	Q|S	+|+	3|2	2|0	STIM1|STIM1	4064329|4064329	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.710000|3.710000	0.54860|0.54860	0.165000|0.165000	0.19558|0.19558	0.407000|0.407000	0.27541|0.27541	CAG|AGC		0.602	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156	
FAM160A2	84067	hgsc.bcm.edu	37	11	6245413	6245413	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:6245413A>G	ENST00000449352.2	-	3	467	c.204T>C	c.(202-204)gcT>gcC	p.A68A	FAM160A2_ENST00000265978.4_Silent_p.A68A|FAM160A2_ENST00000524416.1_Silent_p.A68A			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	68					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.A68A(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTTGCGCACAGCACTGAGAT	0.607																																					p.A68A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T204C	11						.						44.0	44.0	44.0					11																	6245413		2201	4296	6497	6201989	SO:0001819	synonymous_variant	84067	exon3				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.204T>C	11.37:g.6245413A>G		Somatic		Capture	SOLID	Phase_I	6201989	NM_032127	Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	CCDS44530.1																																																																																				0.607	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127	
APBB1	322	hgsc.bcm.edu	37	11	6422651	6422651	+	Silent	SNP	G	G	C	rs34466697	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:6422651G>C	ENST00000609360.1	-	11	1611	c.1512C>G	c.(1510-1512)gcC>gcG	p.A504A	APBB1_ENST00000609331.1_Silent_p.A269A|APBB1_ENST00000530885.1_Silent_p.A282A|APBB1_ENST00000608394.1_Silent_p.A245A|APBB1_ENST00000311051.3_Silent_p.A502A|APBB1_ENST00000608645.1_Silent_p.A245A|APBB1_ENST00000299402.6_Silent_p.A502A|APBB1_ENST00000389906.2_Silent_p.A504A|APBB1_ENST00000608655.1_Silent_p.A284A|APBB1_ENST00000608704.1_Silent_p.A245A|APBB1_ENST00000529519.1_Silent_p.A29A	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	504	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.A502A(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TACGCCGTTCGGCCATGATCT	0.572																																					p.A504A	GBM(147;1810 2556 5672 39622)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1512G	11						.						57.0	54.0	55.0					11																	6422651		2201	4296	6497	6379227	SO:0001819	synonymous_variant	322	exon10			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1512C>G	11.37:g.6422651G>C		Somatic		Capture	SOLID	Phase_I	6379227	NM_001164	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	37																																																																																					0.572	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	
NLRP10	338322	hgsc.bcm.edu	37	11	7981653	7981653	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:7981653C>A	ENST00000328600.2	-	2	1667	c.1506G>T	c.(1504-1506)aaG>aaT	p.K502N		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	502					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.K502N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCCTGCTCCTTTACCTCCA	0.493																																					p.K502N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1506T	11						.						100.0	96.0	97.0					11																	7981653		2201	4296	6497	7938229	SO:0001583	missense	338322	exon2			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1506G>T	11.37:g.7981653C>A	ENSP00000327763:p.Lys502Asn	Somatic		Capture	SOLID	Phase_I	7938229	NM_176821	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	7.544	0.661391	0.14645	.	.	ENSG00000182261	ENST00000328600	D	0.87966	-2.32	3.39	-2.28	0.06826	.	1.065190	0.07496	N	0.906412	T	0.75191	0.3816	N	0.24115	0.695	0.09310	N	1	B	0.29378	0.243	B	0.30716	0.119	T	0.59204	-0.7498	10	0.13853	T	0.58	.	7.5458	0.27766	0.0:0.4042:0.0:0.5958	.	502	Q86W26	NAL10_HUMAN	N	502	ENSP00000327763:K502N	ENSP00000327763:K502N	K	-	3	2	NLRP10	7938229	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.818000	0.04467	-0.496000	0.06650	-1.008000	0.02478	AAG		0.493	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821	
ST5	6764	hgsc.bcm.edu	37	11	8739433	8739433	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:8739433A>G	ENST00000534127.1	-	8	1869	c.1484T>C	c.(1483-1485)cTg>cCg	p.L495P	ST5_ENST00000526757.1_Missense_Mutation_p.L75P|ST5_ENST00000530438.1_Missense_Mutation_p.L75P|ST5_ENST00000313726.6_Missense_Mutation_p.L495P|ST5_ENST00000530991.1_5'UTR|ST5_ENST00000357665.1_Missense_Mutation_p.L495P|ST5_ENST00000526099.1_Missense_Mutation_p.L8P	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	495					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L495P(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTCCTTGGGCAGATCTCCTGC	0.478																																					p.L495P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1484C	11						.						109.0	89.0	96.0					11																	8739433		2201	4296	6497	8696009	SO:0001583	missense	6764	exon8			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1484T>C	11.37:g.8739433A>G	ENSP00000433528:p.Leu495Pro	Somatic		Capture	SOLID	Phase_I	8696009	NM_005418	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843623	0.32606	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000447053;ENST00000528196;ENST00000527510;ENST00000530580;ENST00000531093;ENST00000533225	T;T;T;T;T;T	0.08634	3.12;3.56;3.56;3.56;3.07;3.12	5.01	5.01	0.66863	.	0.501813	0.18343	N	0.144134	T	0.02193	0.0068	N	0.00554	-1.385	0.52099	D	0.999942	B;B;B	0.22909	0.077;0.0;0.0	B;B;B	0.25884	0.064;0.002;0.001	T	0.48269	-0.9050	10	0.18710	T	0.47	-3.5632	5.78	0.18301	0.8581:0.0:0.1419:0.0	.	8;75;495	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	P	75;495;495;495;8;75;105;75;75;75;75;75	ENSP00000435097:L75P;ENSP00000433528:L495P;ENSP00000319678:L495P;ENSP00000350294:L495P;ENSP00000436808:L8P;ENSP00000436802:L75P	ENSP00000319678:L495P	L	-	2	0	ST5	8696009	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.041000	0.57339	2.107000	0.64212	0.533000	0.62120	CTG		0.478	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	
ZNF143	7702	hgsc.bcm.edu	37	11	9537812	9537812	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:9537812G>T	ENST00000396602.2	+	14	1708	c.1589G>T	c.(1588-1590)gGc>gTc	p.G530V	ZNF143_ENST00000299606.2_Missense_Mutation_p.G502V|ZNF143_ENST00000396604.1_Missense_Mutation_p.G529V|ZNF143_ENST00000530463.1_Missense_Mutation_p.G529V|ZNF143_ENST00000396597.3_Missense_Mutation_p.G499V	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	530					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G530V(1)		endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACGCAGGATGGCACGCCCATC	0.498																																					p.G530V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1589T	11						.						129.0	93.0	105.0					11																	9537812		2201	4294	6495	9494388	SO:0001583	missense	7702	exon14			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1589G>T	11.37:g.9537812G>T	ENSP00000379847:p.Gly530Val	Somatic		Capture	SOLID	Phase_I	9494388	NM_003442	A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	CCDS7799.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.276145|5.276145	0.95459|0.95459	.|.	.|.	ENSG00000166478|ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606|ENST00000447186	T;T;T;T;T|.	0.14022|.	2.6;2.61;2.6;2.54;2.55|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.64402|.	D|.	0.000008|.	T|T	0.52403|0.52403	0.1732|0.1732	N|N	0.16656|0.16656	0.425|0.425	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.994;0.994|.	T|T	0.45411|0.45411	-0.9263|-0.9263	10|5	0.06236|.	T|.	0.91|.	.|.	18.2796|18.2796	0.90094|0.90094	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	499;529;530|.	P52747-2;E7ER34;P52747|.	.;.;ZN143_HUMAN|.	V|C	529;530;529;499;502|55	ENSP00000379849:G529V;ENSP00000379847:G530V;ENSP00000432154:G529V;ENSP00000379843:G499V;ENSP00000299606:G502V|.	ENSP00000299606:G502V|.	G|W	+|+	2|3	0|0	ZNF143|ZNF143	9494388|9494388	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.132000|9.132000	0.94455|0.94455	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.498	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442	
SBF2	81846	hgsc.bcm.edu	37	11	9867271	9867271	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:9867271A>G	ENST00000256190.8	-	24	3088	c.2951T>C	c.(2950-2952)tTt>tCt	p.F984S	RNU7-28P_ENST00000516759.1_RNA|RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	984					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.F984S(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTCTTCATCAAATGCTACCTT	0.368																																					p.F984S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2951C	11						.						142.0	151.0	148.0					11																	9867271		2201	4294	6495	9823847	SO:0001583	missense	81846	exon24			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2951T>C	11.37:g.9867271A>G	ENSP00000256190:p.Phe984Ser	Somatic		Capture	SOLID	Phase_I	9823847	NM_030962	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.835125	0.91117	.	.	ENSG00000133812	ENST00000256190	D	0.84944	-1.92	6.03	6.03	0.97812	.	0.090925	0.85682	D	0.000000	D	0.92018	0.7471	M	0.75085	2.285	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.92755	0.6219	10	0.87932	D	0	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	984	Q86WG5	MTMRD_HUMAN	S	984	ENSP00000256190:F984S	ENSP00000256190:F984S	F	-	2	0	SBF2	9823847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.946000	0.92992	2.308000	0.77769	0.533000	0.62120	TTT		0.368	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	
PDE3B	5140	hgsc.bcm.edu	37	11	14808117	14808117	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:14808117T>C	ENST00000282096.4	+	3	1517	c.1164T>C	c.(1162-1164)ggT>ggC	p.G388G	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	388					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)	p.G388G(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GCTTAATGGGTGCTTTCTCAG	0.453																																					p.G388G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1164C	11						.						193.0	203.0	200.0					11																	14808117		2200	4294	6494	14764693	SO:0001819	synonymous_variant	5140	exon3			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1164T>C	11.37:g.14808117T>C		Somatic		Capture	SOLID	Phase_I	14764693	NM_000922	B7ZM37|O00639|Q14408|Q6SEI4	Silent	SNP	ENST00000282096.4	37	CCDS7817.1																																																																																				0.453	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922	
E2F8	79733	hgsc.bcm.edu	37	11	19256510	19256510	+	Nonsense_Mutation	SNP	G	G	A	rs562160670		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:19256510G>A	ENST00000527884.1	-	5	779	c.547C>T	c.(547-549)Cga>Tga	p.R183*	E2F8_ENST00000250024.4_Nonsense_Mutation_p.R183*|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	183					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R183*(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGATTGTGTCGCCCGTGCCAA	0.463																																					p.R183X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C547T	11						.						112.0	92.0	98.0					11																	19256510		2199	4293	6492	19213086	SO:0001587	stop_gained	79733	exon5				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.547C>T	11.37:g.19256510G>A	ENSP00000434199:p.Arg183*	Somatic		Capture	SOLID	Phase_I	19213086	NM_024680	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Nonsense_Mutation	SNP	ENST00000527884.1	37	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	41	8.598033	0.98879	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	.	.	.	5.48	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.748	9.211	0.37318	0.0759:0.0:0.7658:0.1583	.	.	.	.	X	183	.	ENSP00000250024:R183X	R	-	1	2	E2F8	19213086	1.000000	0.71417	0.990000	0.47175	0.703000	0.40648	2.374000	0.44274	1.245000	0.43885	0.655000	0.94253	CGA		0.463	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680	
SLC6A5	9152	hgsc.bcm.edu	37	11	20658834	20658834	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:20658834T>A	ENST00000525748.1	+	12	2127	c.1854T>A	c.(1852-1854)ttT>ttA	p.F618L	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	618					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.F618L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCATGGGTTTTCCAATGATCA	0.527																																					p.F618L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1854A	11						.						118.0	110.0	113.0					11																	20658834		2203	4300	6503	20615410	SO:0001583	missense	9152	exon12			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1854T>A	11.37:g.20658834T>A	ENSP00000434364:p.Phe618Leu	Somatic		Capture	SOLID	Phase_I	20615410	NM_004211	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	T	7.490	0.650502	0.14516	.	.	ENSG00000165970	ENST00000525748	T	0.65916	-0.18	5.67	-1.13	0.09775	.	0.093010	0.85682	D	0.000000	T	0.18718	0.0449	N	0.00496	-1.435	0.58432	D	0.999999	B	0.14012	0.009	B	0.12156	0.007	T	0.37526	-0.9702	10	0.02654	T	1	.	6.1625	0.20372	0.0:0.2817:0.1221:0.5962	.	618	Q9Y345	SC6A5_HUMAN	L	618	ENSP00000434364:F618L	ENSP00000434364:F618L	F	+	3	2	SLC6A5	20615410	0.994000	0.37717	0.962000	0.40283	0.998000	0.95712	0.265000	0.18515	-0.461000	0.06993	0.533000	0.62120	TTT		0.527	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	
NELL1	4745	hgsc.bcm.edu	37	11	20699528	20699528	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:20699528C>A	ENST00000357134.5	+	2	258	c.106C>A	c.(106-108)Ctt>Att	p.L36I	NELL1_ENST00000532434.1_Missense_Mutation_p.L36I|NELL1_ENST00000298925.5_Missense_Mutation_p.L64I|NELL1_ENST00000325319.5_Missense_Mutation_p.L36I	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	36					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.L36I(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CGTCACCGAGCTTGACCTTGT	0.473																																					p.L36I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C106A	11						.						178.0	163.0	168.0					11																	20699528		2203	4300	6503	20656104	SO:0001583	missense	4745	exon2			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.106C>A	11.37:g.20699528C>A	ENSP00000349654:p.Leu36Ile	Somatic		Capture	SOLID	Phase_I	20656104	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023387	0.75390	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.02369	4.32;4.32;4.32;4.32	6.11	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.06600	0.0169	M	0.64170	1.965	0.38651	D	0.951834	P;P;B;P	0.45531	0.86;0.78;0.429;0.78	P;B;B;B	0.44561	0.453;0.265;0.263;0.197	T	0.14531	-1.0469	10	0.62326	D	0.03	-6.7367	14.3724	0.66849	0.0:0.9285:0.0:0.0715	.	36;64;36;36	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	I	64;36;36;36	ENSP00000298925:L64I;ENSP00000349654:L36I;ENSP00000317837:L36I;ENSP00000437170:L36I	ENSP00000298925:L64I	L	+	1	0	NELL1	20656104	1.000000	0.71417	0.618000	0.29105	0.753000	0.42808	6.264000	0.72527	1.605000	0.50152	-0.136000	0.14681	CTT		0.473	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
NELL1	4745	hgsc.bcm.edu	37	11	21555973	21555973	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:21555973G>A	ENST00000357134.5	+	16	1851	c.1699G>A	c.(1699-1701)Gtt>Att	p.V567I	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000298925.5_Missense_Mutation_p.V595I|NELL1_ENST00000325319.5_Missense_Mutation_p.V510I	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	567	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.V567I(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTCCCGCTGCGTTAACCTGCC	0.483																																					p.V567I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1699A	11						.						184.0	153.0	163.0					11																	21555973		2203	4300	6503	21512549	SO:0001583	missense	4745	exon16			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1699G>A	11.37:g.21555973G>A	ENSP00000349654:p.Val567Ile	Somatic		Capture	SOLID	Phase_I	21512549	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337374	0.41398	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319	D;D;D	0.87412	-2.25;-2.25;-2.25	5.28	5.28	0.74379	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000010	D	0.86176	0.5870	N	0.12887	0.27	0.51012	D	0.999906	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.73708	0.981;0.972;0.959	T	0.81705	-0.0811	10	0.08381	T	0.77	-13.9188	18.89	0.92397	0.0:0.0:1.0:0.0	.	510;595;567	F5H6I3;B3KXR2;Q92832	.;.;NELL1_HUMAN	I	595;567;510	ENSP00000298925:V595I;ENSP00000349654:V567I;ENSP00000317837:V510I	ENSP00000298925:V595I	V	+	1	0	NELL1	21512549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.086000	0.71352	2.465000	0.83290	0.460000	0.39030	GTT		0.483	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
PAX6	5080	hgsc.bcm.edu	37	11	31823252	31823252	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:31823252C>T	ENST00000379132.3	-	5	494	c.214G>A	c.(214-216)Ggt>Agt	p.G72S	PAX6_ENST00000379129.2_Missense_Mutation_p.G86S|PAX6_ENST00000533156.1_5'Flank|PAX6_ENST00000419022.1_Missense_Mutation_p.G86S|PAX6_ENST00000379111.2_Missense_Mutation_p.G72S|PAX6_ENST00000379107.2_Missense_Mutation_p.G86S|PAX6_ENST00000241001.8_Missense_Mutation_p.G72S|PAX6_ENST00000379123.5_Missense_Mutation_p.G72S|PAX6_ENST00000379115.4_Missense_Mutation_p.G86S			P26367	PAX6_HUMAN	paired box 6	72	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.G86S(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TTACTACCACCGATTGCCCTG	0.507									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																												p.G72S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G214A	11						.																																			31779828	SO:0001583	missense	5080	exon6	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.214G>A	11.37:g.31823252C>T	ENSP00000368427:p.Gly72Ser	Somatic		Capture	SOLID	Phase_I	31779828	NM_001127612	Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208322	0.95033	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000379109;ENST00000533333	D;D;D;D;D;D;D;D;D;D	0.99730	-6.56;-6.56;-6.56;-6.56;-6.56;-6.56;-6.56;-6.56;-6.56;-6.56	5.35	5.35	0.76521	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.090293	0.85682	D	0.000000	D	0.99753	0.9901	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.97414	1.0004	10	0.87932	D	0	.	19.0586	0.93078	0.0:1.0:0.0:0.0	.	86;72	F1T0F8;P26367	.;PAX6_HUMAN	S	86;72;86;86;72;86;72;72;72;27	ENSP00000404100:G86S;ENSP00000368427:G72S;ENSP00000368424:G86S;ENSP00000368401:G86S;ENSP00000241001:G72S;ENSP00000368410:G86S;ENSP00000368406:G72S;ENSP00000368418:G72S;ENSP00000368403:G72S;ENSP00000451372:G27S	ENSP00000241001:G72S	G	-	1	0	PAX6	31779828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.784000	0.85713	2.488000	0.83962	0.650000	0.86243	GGT		0.507	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604	
TRIM44	54765	hgsc.bcm.edu	37	11	35756977	35756977	+	Missense_Mutation	SNP	G	G	A	rs181043254	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:35756977G>A	ENST00000299413.5	+	4	1298	c.991G>A	c.(991-993)Gat>Aat	p.D331N	TRIM44_ENST00000532066.1_3'UTR	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	331						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D331N(2)		endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				CTTTCAGGGCGATGAGGAAGG	0.413													G|||	4	0.000798722	0.0	0.0014	5008	,	,		21483	0.0		0.0	False		,,,				2504	0.0031				p.D331N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G991A	11						.						242.0	207.0	219.0					11																	35756977		2202	4298	6500	35713553	SO:0001583	missense	54765	exon4			BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19016	protein-coding gene	gene with protein product		612298	"""tripartite motif-containing 44"""				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.991G>A	11.37:g.35756977G>A	ENSP00000299413:p.Asp331Asn	Somatic		Capture	SOLID	Phase_I	35713553	NM_017583	D3DR14|Q96QY2|Q9UGK0	Missense_Mutation	SNP	ENST00000299413.5	37	CCDS31461.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.71	1.720728	0.30503	.	.	ENSG00000166326	ENST00000299413	T	0.31510	1.49	5.56	4.42	0.53409	.	0.000000	0.39274	N	0.001407	T	0.15046	0.0363	N	0.08118	0	0.26488	N	0.974988	D	0.61697	0.99	B	0.44315	0.446	T	0.07501	-1.0769	10	0.25106	T	0.35	-25.2742	7.1628	0.25672	0.1445:0.0:0.8555:0.0	.	331	Q96DX7	TRI44_HUMAN	N	331	ENSP00000299413:D331N	ENSP00000299413:D331N	D	+	1	0	TRIM44	35713553	0.606000	0.26949	0.996000	0.52242	0.992000	0.81027	1.016000	0.29976	2.774000	0.95407	0.650000	0.86243	GAT		0.413	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389081.1	NM_017583	
ACCS	84680	hgsc.bcm.edu	37	11	44105020	44105020	+	Missense_Mutation	SNP	G	G	A	rs150697417		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:44105020G>A	ENST00000263776.8	+	14	1735	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	434					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.R434H(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CTCTGGCGCCGCTTTTTGGAC	0.572																																					p.R434H	Esophageal Squamous(158;148 1889 8077 23160 41213)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1301A	11						.	G	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	79.0	71.0	74.0		1301,1301	3.0	0.1	11	dbSNP_134	74	0,8600		0,0,4300	no	missense,missense	ACCS	NM_001127219.1,NM_032592.3	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	434/502,434/502	44105020	2,13004	2203	4300	6503	44061596	SO:0001583	missense	84680	exon14			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1301G>A	11.37:g.44105020G>A	ENSP00000263776:p.Arg434His	Somatic		Capture	SOLID	Phase_I	44061596	NM_032592	B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544411	0.27563	4.54E-4	0.0	ENSG00000110455	ENST00000263776	D	0.90620	-2.7	5.91	3.02	0.34903	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.308793	0.36932	N	0.002326	D	0.85066	0.5612	L	0.38692	1.165	0.33707	D	0.61533	B	0.22683	0.073	B	0.28385	0.089	T	0.81752	-0.0789	10	0.40728	T	0.16	-0.595	9.5054	0.39044	0.2742:0.0:0.7258:0.0	.	434	Q96QU6	1A1L1_HUMAN	H	434	ENSP00000263776:R434H	ENSP00000263776:R434H	R	+	2	0	ACCS	44061596	0.092000	0.21681	0.110000	0.21437	0.320000	0.28249	1.973000	0.40550	0.390000	0.25115	0.655000	0.94253	CGC		0.572	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592	
SYT13	57586	hgsc.bcm.edu	37	11	45275828	45275828	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:45275828G>A	ENST00000020926.3	-	3	648	c.537C>T	c.(535-537)cgC>cgT	p.R179R	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	179	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)		p.R179R(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TACCTTCCAGGCGAGTCACAA	0.542																																					p.R179R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C537T	11						.						137.0	113.0	121.0					11																	45275828		2203	4299	6502	45232404	SO:0001819	synonymous_variant	57586	exon3			AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.537C>T	11.37:g.45275828G>A		Somatic		Capture	SOLID	Phase_I	45232404	NM_020826	A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Silent	SNP	ENST00000020926.3	37	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	0.311	-0.967832	0.02232	.	.	ENSG00000019505	ENST00000528101	.	.	.	5.57	-4.31	0.03698	.	.	.	.	.	T	0.53642	0.1809	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52170	-0.8611	4	.	.	.	.	10.3678	0.44035	0.5626:0.0903:0.3471:0.0	.	.	.	.	V	139	.	.	A	-	2	0	SYT13	45232404	0.001000	0.12720	0.002000	0.10522	0.174000	0.22865	-0.568000	0.05909	-1.116000	0.02969	-0.345000	0.07892	GCC		0.542	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826	
F2	2147	hgsc.bcm.edu	37	11	46744811	46744811	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:46744811G>T	ENST00000311907.5	+	5	454	c.398G>T	c.(397-399)aGg>aTg	p.R133M	F2_ENST00000530231.1_Missense_Mutation_p.R133M	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	133	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.R133M(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	CAGCTATGGAGGAGTCGCTAC	0.607																																					p.R133M	Esophageal Squamous(147;1147 1808 2148 38609 51144)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G398T	11						.						114.0	106.0	109.0					11																	46744811		2201	4299	6500	46701387	SO:0001583	missense	2147	exon5			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.398G>T	11.37:g.46744811G>T	ENSP00000308541:p.Arg133Met	Somatic		Capture	SOLID	Phase_I	46701387	NM_000506	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787921	0.49997	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	T;T;T	0.67171	-0.25;-0.25;-0.25	5.33	2.47	0.30058	Kringle (5);Kringle-like fold (1);	0.424983	0.29995	N	0.010663	T	0.73140	0.3549	M	0.77103	2.36	0.09310	N	0.999999	P	0.52316	0.952	P	0.59889	0.865	T	0.64685	-0.6349	10	0.87932	D	0	.	2.0448	0.03558	0.235:0.1668:0.4793:0.1189	.	133	P00734	THRB_HUMAN	M	133;133;123	ENSP00000308541:R133M;ENSP00000433907:R133M;ENSP00000387413:R123M	ENSP00000308541:R133M	R	+	2	0	F2	46701387	0.547000	0.26465	0.971000	0.41717	0.910000	0.53928	0.238000	0.18004	0.258000	0.21686	0.511000	0.50034	AGG		0.607	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1		
LRP4	4038	hgsc.bcm.edu	37	11	46896483	46896483	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:46896483C>T	ENST00000378623.1	-	28	4339	c.4097G>A	c.(4096-4098)cGt>cAt	p.R1366H	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1366					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.R1366H(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGTGAGATACGCCGGATGGA	0.572																																					p.R1366H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4097A	11						.						132.0	110.0	118.0					11																	46896483		2201	4299	6500	46853059	SO:0001583	missense	4038	exon28			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4097G>A	11.37:g.46896483C>T	ENSP00000367888:p.Arg1366His	Somatic		Capture	SOLID	Phase_I	46853059	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161385	0.94727	.	.	ENSG00000134569	ENST00000378623	D	0.91631	-2.88	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95987	0.8693	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.95765	0.8804	10	0.62326	D	0.03	.	19.7824	0.96422	0.0:1.0:0.0:0.0	.	1366	O75096	LRP4_HUMAN	H	1366	ENSP00000367888:R1366H	ENSP00000367888:R1366H	R	-	2	0	LRP4	46853059	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	7.612000	0.82975	2.677000	0.91161	0.561000	0.74099	CGT		0.572	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
LRP4	4038	hgsc.bcm.edu	37	11	46897031	46897031	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:46897031C>A	ENST00000378623.1	-	27	4143	c.3901G>T	c.(3901-3903)Gct>Tct	p.A1301S	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1301					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGGTCCACAGCCTGCATGTCC	0.587																																					p.A1301S												.	.	0			c.G3901T	11						.						46.0	41.0	43.0					11																	46897031		2201	4299	6500	46853607	SO:0001583	missense	4038	exon27			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3901G>T	11.37:g.46897031C>A	ENSP00000367888:p.Ala1301Ser	Somatic		Capture	SOLID	Phase_I	46853607	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842413	0.91197	.	.	ENSG00000134569	ENST00000378623	D	0.91351	-2.83	5.78	5.78	0.91487	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.89287	0.6672	L	0.52206	1.635	0.80722	D	1	B	0.25390	0.125	B	0.24006	0.05	D	0.85570	0.1233	10	0.56958	D	0.05	.	20.005	0.97433	0.0:1.0:0.0:0.0	.	1301	O75096	LRP4_HUMAN	S	1301	ENSP00000367888:A1301S	ENSP00000367888:A1301S	A	-	1	0	LRP4	46853607	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.680000	0.84062	2.745000	0.94114	0.555000	0.69702	GCT		0.587	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
LRP4	4038	hgsc.bcm.edu	37	11	46900691	46900691	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:46900691C>T	ENST00000378623.1	-	21	3232	c.2990G>A	c.(2989-2991)cGc>cAc	p.R997H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	997					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.R997H(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGGCCGGCGGCGGTGGAAGAC	0.612																																					p.R997H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2990A	11						.						117.0	134.0	128.0					11																	46900691		2201	4299	6500	46857267	SO:0001583	missense	4038	exon21			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2990G>A	11.37:g.46900691C>T	ENSP00000367888:p.Arg997His	Somatic		Capture	SOLID	Phase_I	46857267	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128104	0.77549	.	.	ENSG00000134569	ENST00000378623	D	0.91351	-2.83	5.5	4.59	0.56863	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94374	0.8191	M	0.75777	2.31	0.58432	D	0.999991	D	0.71674	0.998	D	0.63703	0.917	D	0.94137	0.7393	10	0.44086	T	0.13	.	16.7524	0.85489	0.0:0.8708:0.1292:0.0	.	997	O75096	LRP4_HUMAN	H	997	ENSP00000367888:R997H	ENSP00000367888:R997H	R	-	2	0	LRP4	46857267	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.110000	0.50352	1.449000	0.47699	0.462000	0.41574	CGC		0.612	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
ACP2	53	hgsc.bcm.edu	37	11	47267093	47267093	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:47267093G>A	ENST00000256997.3	-	5	597	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C	ACP2_ENST00000530453.1_Intron|ACP2_ENST00000527256.1_Missense_Mutation_p.R129C|ACP2_ENST00000537863.1_Intron|ACP2_ENST00000529444.1_Intron|ACP2_ENST00000533929.1_Missense_Mutation_p.R133C|ACP2_ENST00000525230.1_5'Flank	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	161					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)	p.R161C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						TGCTCATAACGGGGACATGGG	0.602																																					p.R161C	Melanoma(90;262 1440 11488 44828 48531)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C481T	11						.						92.0	82.0	86.0					11																	47267093		2201	4298	6499	47223669	SO:0001583	missense	53	exon5			X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.481C>T	11.37:g.47267093G>A	ENSP00000256997:p.Arg161Cys	Somatic		Capture	SOLID	Phase_I	47223669	NM_001610	E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	ENST00000256997.3	37	CCDS7928.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475825	0.84640	.	.	ENSG00000134575	ENST00000256997;ENST00000527256;ENST00000540414;ENST00000533929	T;T;T	0.32515	1.45;1.45;1.45	5.3	5.3	0.74995	.	0.103875	0.64402	D	0.000002	T	0.62950	0.2470	M	0.92880	3.355	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.66084	0.93;0.941;0.935	T	0.72782	-0.4189	10	0.87932	D	0	.	14.5437	0.68013	0.0:0.1463:0.8537:0.0	.	129;133;161	B7Z7D2;E9PQY3;P11117	.;.;PPAL_HUMAN	C	161;129;151;133	ENSP00000256997:R161C;ENSP00000432205:R129C;ENSP00000432439:R133C	ENSP00000256997:R161C	R	-	1	0	ACP2	47223669	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.637000	0.74304	2.461000	0.83175	0.563000	0.77884	CGT		0.602	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2	NM_001610	
NR1H3	10062	hgsc.bcm.edu	37	11	47283108	47283108	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:47283108T>C	ENST00000467728.1	+	5	1957	c.719T>C	c.(718-720)aTg>aCg	p.M240T	NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000441012.2_Missense_Mutation_p.M240T|NR1H3_ENST00000481889.2_Missense_Mutation_p.M195T|NR1H3_ENST00000395397.3_Missense_Mutation_p.M195T			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	240	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.M240T(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CCTTGGCCCATGGCACCAGAT	0.592																																					p.M195T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T584C	11						.						60.0	60.0	60.0					11																	47283108		2201	4298	6499	47239684	SO:0001583	missense	10062	exon5			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.719T>C	11.37:g.47283108T>C	ENSP00000420656:p.Met240Thr	Somatic		Capture	SOLID	Phase_I	47239684	NM_001130102	A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	T	5.133	0.210196	0.09757	.	.	ENSG00000025434	ENST00000395397;ENST00000481889;ENST00000441012;ENST00000467728	D;D;D;D	0.94758	-3.51;-2.91;-3.51;-3.51	5.23	5.23	0.72850	Nuclear hormone receptor, ligand-binding (2);	0.244387	0.48286	D	0.000182	D	0.89104	0.6620	N	0.20986	0.625	0.80722	D	1	B;B;B	0.34349	0.018;0.002;0.45	B;B;B	0.38655	0.045;0.027;0.278	D	0.85757	0.1347	10	0.13853	T	0.58	.	10.8681	0.46866	0.1732:0.0:0.0:0.8268	.	246;240;195	B4DXU5;Q13133;E9PLL4	.;NR1H3_HUMAN;.	T	195;195;240;240	ENSP00000378793:M195T;ENSP00000433271:M195T;ENSP00000387946:M240T;ENSP00000420656:M240T	ENSP00000378793:M195T	M	+	2	0	NR1H3	47239684	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.258000	0.51507	2.279000	0.76181	0.533000	0.62120	ATG		0.592	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3		
NUP160	23279	hgsc.bcm.edu	37	11	47840972	47840972	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:47840972G>T	ENST00000378460.2	-	10	1362	c.1316C>A	c.(1315-1317)cCt>cAt	p.P439H	NUP160_ENST00000530326.1_Missense_Mutation_p.P325H|NUP160_ENST00000528501.1_Missense_Mutation_p.P3H|NUP160_ENST00000528071.1_Missense_Mutation_p.P325H|Y_RNA_ENST00000517065.1_RNA	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	439					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.P439H(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CTCTGGCAGAGGCTGCATAAA	0.363																																					p.P439H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1316A	11						.						142.0	149.0	146.0					11																	47840972		2201	4298	6499	47797548	SO:0001583	missense	23279	exon10			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.1316C>A	11.37:g.47840972G>T	ENSP00000367721:p.Pro439His	Somatic		Capture	SOLID	Phase_I	47797548	NM_015231	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063437	0.93898	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071;ENST00000528501	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.85	5.85	0.93711	.	0.237875	0.43260	D	0.000590	T	0.59676	0.2211	L	0.60455	1.87	0.80722	D	1	D	0.55605	0.972	P	0.59424	0.857	T	0.52689	-0.8542	10	0.38643	T	0.18	.	20.1634	0.98142	0.0:0.0:1.0:0.0	.	439	Q12769	NU160_HUMAN	H	439;229;325;325;3	ENSP00000367721:P439H;ENSP00000433590:P325H;ENSP00000432367:P325H;ENSP00000433964:P3H	ENSP00000367721:P439H	P	-	2	0	NUP160	47797548	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.598000	0.90852	2.773000	0.95371	0.655000	0.94253	CCT		0.363	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231	
SLC43A1	8501	hgsc.bcm.edu	37	11	57258813	57258813	+	Silent	SNP	G	G	A	rs138052685		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:57258813G>A	ENST00000278426.3	-	11	1432	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Silent_p.F359F	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1									p.F359F(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCATGGCCCCGAAGACGGAGG	0.612																																					p.F359F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1077T	11						.	G	,	1,4401	2.1+/-5.4	0,1,2200	74.0	76.0	75.0		1077,1077	-2.1	1.0	11	dbSNP_134	75	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	SLC43A1	NM_001198810.1,NM_003627.5	,	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,	359/560,359/560	57258813	1,12993	2201	4296	6497	57015389	SO:0001819	synonymous_variant	8501	exon11			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1077C>T	11.37:g.57258813G>A		Somatic		Capture	SOLID	Phase_I	57015389	NM_003627		Silent	SNP	ENST00000278426.3	37	CCDS7958.1																																																																																				0.612	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627	
OR10Q1	219960	hgsc.bcm.edu	37	11	57995561	57995561	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:57995561C>T	ENST00000316770.2	-	1	829	c.787G>A	c.(787-789)Gtg>Atg	p.V263M		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V263L(1)|p.V263M(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CGCAGGTACACGAGGCTGCAG	0.607																																					p.V263M												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G787A	11						.						68.0	62.0	64.0					11																	57995561		2201	4295	6496	57752137	SO:0001583	missense	219960	exon1			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.787G>A	11.37:g.57995561C>T	ENSP00000314324:p.Val263Met	Somatic		Capture	SOLID	Phase_I	57752137	NM_001004471	Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368634	0.24771	.	.	ENSG00000180475	ENST00000316770	T	0.00051	8.81	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38492	N	0.001670	T	0.00144	0.0004	N	0.02865	-0.47	0.25637	N	0.986248	D	0.89917	1.0	D	0.77557	0.99	T	0.71437	-0.4593	10	0.07813	T	0.8	.	11.4464	0.50125	0.0:0.8184:0.1816:0.0	.	263	Q8NGQ4	O10Q1_HUMAN	M	263	ENSP00000314324:V263M	ENSP00000314324:V263M	V	-	1	0	OR10Q1	57752137	0.000000	0.05858	0.997000	0.53966	0.022000	0.10575	-0.197000	0.09518	2.581000	0.87130	0.650000	0.86243	GTG		0.607	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471	
OR5B12	390191	hgsc.bcm.edu	37	11	58206946	58206946	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:58206946G>A	ENST00000302572.2	-	1	700	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R227C(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCAGGTGAGCGCATCTTCATG	0.403																																					p.R227C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C679T	11						.						70.0	68.0	69.0					11																	58206946		2201	4295	6496	57963522	SO:0001583	missense	390191	exon1			AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.679C>T	11.37:g.58206946G>A	ENSP00000306657:p.Arg227Cys	Somatic		Capture	SOLID	Phase_I	57963522	NM_001004733	B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353728	0.24512	.	.	ENSG00000172362	ENST00000302572	T	0.40225	1.04	4.3	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.839869	0.10319	N	0.688941	T	0.43875	0.1267	L	0.53561	1.675	0.25666	N	0.985943	D	0.56746	0.977	P	0.50049	0.629	T	0.30475	-0.9977	10	0.66056	D	0.02	0.6178	6.1462	0.20287	0.093:0.0:0.5789:0.3281	.	227	Q96R08	OR5BC_HUMAN	C	227	ENSP00000306657:R227C	ENSP00000306657:R227C	R	-	1	0	OR5B12	57963522	0.001000	0.12720	0.215000	0.23724	0.146000	0.21551	0.950000	0.29122	0.133000	0.18654	0.462000	0.41574	CGC		0.403	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733	
OR5B21	219968	hgsc.bcm.edu	37	11	58275274	58275276	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	AAG	AAG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:58275274_58275276delAAG	ENST00000360374.2	-	1	302_304	c.303_305delCTT	c.(301-306)ttcttt>ttt	p.101_102FF>F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F102delF(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAACCCCACAAAGAAGAAGAACT	0.542																																					p.101_102del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.303_305del	11						.																																			58031852	SO:0001651	inframe_deletion	219968	exon1				CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.303_305delCTT	11.37:g.58275280_58275282delAAG	ENSP00000353537:p.Phe102del	Somatic		Capture	SOLID	Phase_I	58031850	NM_001005218		In_Frame_Del	DEL	ENST00000360374.2	37	CCDS31552.1																																																																																				0.542	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218	
CNTF	1270	hgsc.bcm.edu	37	11	58391872	58391872	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:58391872G>A	ENST00000361987.4	+	2	560	c.480G>A	c.(478-480)aaG>aaA	p.K160K	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	160					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)	p.K160K(1)		NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GGGGCCTAAAGGTGCTGCAGG	0.493																																					p.K160K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G480A	11						.						111.0	110.0	110.0					11																	58391872		2201	4295	6496	58148448	SO:0001819	synonymous_variant	1270	exon2			BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.480G>A	11.37:g.58391872G>A		Somatic		Capture	SOLID	Phase_I	58148448	NM_000614	B2RAB2	Silent	SNP	ENST00000361987.4	37	CCDS31554.1																																																																																				0.493	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614	
MS4A6A	64231	hgsc.bcm.edu	37	11	59949075	59949075	+	Silent	SNP	G	G	A	rs113133013	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:59949075G>A	ENST00000530839.1	-	3	618	c.126C>T	c.(124-126)caC>caT	p.H42H	MS4A6A_ENST00000529054.1_Silent_p.H70H|MS4A6A_ENST00000532169.1_Silent_p.H42H|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000412309.2_Silent_p.H70H|MS4A6A_ENST00000533023.1_Silent_p.H42H|MS4A6A_ENST00000528851.1_Silent_p.H42H|MS4A6A_ENST00000323961.3_Silent_p.H42H|MS4A6A_ENST00000426738.2_Silent_p.H42H|MS4A6A_ENST00000420732.2_Silent_p.H42H	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	42						integral component of membrane (GO:0016021)		p.H42H(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATTTCTGCGTGTAGATGTT	0.468													G|||	2	0.000399361	0.0015	0.0	5008	,	,		3887	0.0		0.0	False		,,,				2504	0.0				p.H42H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C126T	11						.						185.0	172.0	177.0					11																	59949075		2201	4295	6496	59705651	SO:0001819	synonymous_variant	64231	exon2			AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.126C>T	11.37:g.59949075G>A		Somatic		Capture	SOLID	Phase_I	59705651	NM_152851	A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	ENST00000530839.1	37	CCDS7981.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	3.044	-0.196825	0.06259	.	.	ENSG00000110077	ENST00000533989	.	.	.	4.72	-0.287	0.12858	.	.	.	.	.	T	0.28962	0.0719	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27331	-1.0077	4	.	.	.	.	5.8555	0.18716	0.0:0.5893:0.1483:0.2625	.	.	.	.	M	22	.	.	T	-	2	0	MS4A6A	59705651	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.295000	0.08298	-0.222000	0.09958	-0.724000	0.03597	ACG		0.468	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1		
MS4A14	84689	hgsc.bcm.edu	37	11	60170455	60170455	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:60170455T>C	ENST00000300187.6	+	4	666	c.389T>C	c.(388-390)cTc>cCc	p.L130P	MS4A14_ENST00000531787.1_Missense_Mutation_p.L18P|MS4A14_ENST00000395001.1_Missense_Mutation_p.L18P|MS4A14_ENST00000531783.1_Missense_Mutation_p.L130P|MS4A14_ENST00000395005.2_Missense_Mutation_p.L113P	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	130						integral component of membrane (GO:0016021)		p.L130P(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TTCACCATTCTCAGCTACAGA	0.373																																					p.L130P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T389C	11						.						250.0	226.0	234.0					11																	60170455		2203	4300	6503	59927031	SO:0001583	missense	84689	exon4			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.389T>C	11.37:g.60170455T>C	ENSP00000300187:p.Leu130Pro	Somatic		Capture	SOLID	Phase_I	59927031	NM_032597	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.50|10.50	1.367583|1.367583	0.24771|0.24771	.|.	.|.	ENSG00000166928|ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783;ENST00000395001|ENST00000534688	T;T;T;T;T;T|.	0.33438|.	4.2;4.2;4.2;1.41;4.2;4.2|.	5.01|5.01	3.8|3.8	0.43715|0.43715	.|.	0.915863|.	0.09336|.	N|.	0.816223|.	T|T	0.50480|0.50480	0.1618|0.1618	L|L	0.47190|0.47190	1.495|1.495	0.34396|0.34396	D|D	0.694694|0.694694	P;P|.	0.48503|.	0.891;0.911|.	B;P|.	0.48524|.	0.444;0.58|.	T|T	0.59511|0.59511	-0.7441|-0.7441	10|5	0.87932|.	D|.	0|.	-1.7978|-1.7978	7.599|7.599	0.28065|0.28065	0.1892:0.0:0.0:0.8108|0.1892:0.0:0.0:0.8108	.|.	113;130|.	Q96JA4-2;Q96JA4|.	.;M4A14_HUMAN|.	P|P	18;130;113;113;130;18|89	ENSP00000437222:L18P;ENSP00000300187:L130P;ENSP00000378453:L113P;ENSP00000435764:L113P;ENSP00000433761:L130P;ENSP00000378449:L18P|.	ENSP00000300187:L130P|.	L|S	+|+	2|1	0|0	MS4A14|MS4A14	59927031|59927031	0.847000|0.847000	0.29606|0.29606	0.833000|0.833000	0.33012|0.33012	0.001000|0.001000	0.01503|0.01503	1.802000|1.802000	0.38853|0.38853	2.223000|2.223000	0.72356|0.72356	0.528000|0.528000	0.53228|0.53228	CTC|TCA		0.373	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
ZP1	22917	hgsc.bcm.edu	37	11	60635144	60635144	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:60635144T>C	ENST00000278853.5	+	1	110	c.110T>C	c.(109-111)cTc>cCc	p.L37P		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	37					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTCCCAGGCCTCCGGCACAGC	0.667																																					p.L37P												.	.	0			c.T110C	11						.						58.0	48.0	52.0					11																	60635144		2203	4299	6502	60391720	SO:0001583	missense	22917	exon1			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.110T>C	11.37:g.60635144T>C	ENSP00000278853:p.Leu37Pro	Somatic		Capture	SOLID	Phase_I	60391720	NM_207341		Missense_Mutation	SNP	ENST00000278853.5	37	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.156143	0.38021	.	.	ENSG00000149506	ENST00000278853	T	0.32023	1.47	3.53	1.16	0.20824	.	0.426594	0.17161	N	0.184684	T	0.20292	0.0488	L	0.38175	1.15	0.09310	N	0.999999	B	0.25007	0.116	B	0.15052	0.012	T	0.15350	-1.0440	10	0.62326	D	0.03	-5.0787	6.3174	0.21199	0.0:0.2136:0.0:0.7864	.	37	P60852	ZP1_HUMAN	P	37	ENSP00000278853:L37P	ENSP00000278853:L37P	L	+	2	0	ZP1	60391720	0.014000	0.17966	0.004000	0.12327	0.146000	0.21551	1.782000	0.38654	0.044000	0.15775	-0.473000	0.04963	CTC		0.667	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341	
SLC22A11	55867	hgsc.bcm.edu	37	11	64337261	64337261	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:64337261T>C	ENST00000301891.4	+	9	1894	c.1520T>C	c.(1519-1521)gTt>gCt	p.V507A	SLC22A11_ENST00000377585.3_Missense_Mutation_p.V399A|SLC22A11_ENST00000377581.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	507					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.V507A(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TCCAGCCTGGTTGTGCTGTTC	0.617																																					p.V507A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1520C	11						.						137.0	128.0	131.0					11																	64337261		2201	4297	6498	64093837	SO:0001583	missense	55867	exon9			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1520T>C	11.37:g.64337261T>C	ENSP00000301891:p.Val507Ala	Somatic		Capture	SOLID	Phase_I	64093837	NM_018484	A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	T	0.121	-1.125754	0.01770	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000416590	T;T;T	0.75477	-0.94;0.31;-0.92	2.8	-0.857	0.10693	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.061520	0.07442	U	0.897450	T	0.51483	0.1677	N	0.12920	0.275	0.09310	N	1	B;B	0.14012	0.001;0.009	B;B	0.10450	0.001;0.005	T	0.30387	-0.9980	10	0.12430	T	0.62	.	5.5917	0.17305	0.0:0.4906:0.0:0.5094	.	399;507	Q9NSA0-2;Q9NSA0	.;S22AB_HUMAN	A	507;399;110	ENSP00000301891:V507A;ENSP00000366809:V399A;ENSP00000413508:V110A	ENSP00000301891:V507A	V	+	2	0	SLC22A11	64093837	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-0.222000	0.09190	-0.049000	0.13379	-0.425000	0.05940	GTT		0.617	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484	
ZFPL1	7542	hgsc.bcm.edu	37	11	64852259	64852259	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:64852259C>A	ENST00000294258.3	+	2	241	c.89C>A	c.(88-90)gCc>gAc	p.A30D	ZFPL1_ENST00000526791.1_Missense_Mutation_p.A30D|CDCA5_ENST00000404147.3_5'Flank|CDCA5_ENST00000275517.3_5'Flank|ZFPL1_ENST00000525509.1_Missense_Mutation_p.A30D	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	30					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A30D(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TGCCTGGTAGCCAATCACGCC	0.602																																					p.A30D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C89A	11						.						66.0	61.0	63.0					11																	64852259		2201	4297	6498	64608835	SO:0001583	missense	7542	exon2				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.89C>A	11.37:g.64852259C>A	ENSP00000294258:p.Ala30Asp	Somatic		Capture	SOLID	Phase_I	64608835	NM_006782	A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	CCDS8092.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350537	0.61183	.	.	ENSG00000162300	ENST00000525509;ENST00000294258;ENST00000526334;ENST00000526791;ENST00000532200	T;D;D;T;D	0.95918	0.43;-3.85;-3.85;0.43;-3.85	5.08	4.16	0.48862	.	0.058397	0.64402	D	0.000002	D	0.89653	0.6777	N	0.05534	-0.03	0.48975	D	0.999734	B;P	0.39250	0.005;0.665	B;B	0.43082	0.015;0.407	D	0.87660	0.2534	10	0.31617	T	0.26	-12.5743	11.2957	0.49277	0.0:0.9095:0.0:0.0905	.	30;30	B4DHV1;O95159	.;ZFPL1_HUMAN	D	30	ENSP00000433673:A30D;ENSP00000294258:A30D;ENSP00000434454:A30D;ENSP00000432833:A30D;ENSP00000437090:A30D	ENSP00000294258:A30D	A	+	2	0	ZFPL1	64608835	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.644000	0.74338	1.135000	0.42183	0.561000	0.74099	GCC		0.602	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782	
SPDYC	387778	hgsc.bcm.edu	37	11	64940178	64940178	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:64940178C>A	ENST00000377185.2	+	6	622	c.540C>A	c.(538-540)caC>caA	p.H180Q	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C									p.H180Q(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						AGCCATTCCACTGGGCTTGGA	0.667																																					p.H180Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C540A	11						.						44.0	46.0	45.0					11																	64940178		2201	4297	6498	64696754	SO:0001583	missense	387778	exon6			AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.540C>A	11.37:g.64940178C>A	ENSP00000366390:p.His180Gln	Somatic		Capture	SOLID	Phase_I	64696754	NM_001008778		Missense_Mutation	SNP	ENST00000377185.2	37	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854639	0.51376	.	.	ENSG00000204710	ENST00000377185	.	.	.	5.5	1.0	0.19881	.	0.000000	0.53938	D	0.000054	T	0.61578	0.2358	M	0.76002	2.32	0.30386	N	0.781499	D	0.89917	1.0	D	0.91635	0.999	T	0.59322	-0.7476	9	0.62326	D	0.03	.	6.6314	0.22859	0.0:0.4558:0.0:0.5441	.	180	Q5MJ68	SPDYC_HUMAN	Q	180	.	ENSP00000366390:H180Q	H	+	3	2	SPDYC	64696754	0.990000	0.36364	0.995000	0.50966	0.982000	0.71751	0.089000	0.15002	0.299000	0.22661	0.655000	0.94253	CAC		0.667	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778	
KCNK7	10089	hgsc.bcm.edu	37	11	65365977	65365977	+	5'Flank	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:65365977C>A	ENST00000340313.4	-	0	0				KCNK7_ENST00000394216.2_5'Flank|KCNK7_ENST00000342202.4_5'Flank|MAP3K11_ENST00000532507.1_Missense_Mutation_p.D193Y|MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Missense_Mutation_p.D777Y|MAP3K11_ENST00000530153.1_Missense_Mutation_p.D520Y|KCNK7_ENST00000394217.2_5'Flank	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.D777Y(1)		endometrium(1)|liver(1)|lung(1)	3						CTCCAGGGATCAATGCGGCTG	0.677																																					p.D777Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2329T	11						.						42.0	36.0	38.0					11																	65365977		2201	4297	6498	65122553	SO:0001631	upstream_gene_variant	4296	exon10			AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528		11.37:g.65365977C>A	Exception_encountered	Somatic		Capture	SOLID	Phase_I	65122553	NM_002419	Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047684	0.75846	.	.	ENSG00000173327	ENST00000309100;ENST00000532507;ENST00000530153	T;D	0.83250	-1.48;-1.7	5.6	5.6	0.85130	.	0.206125	0.38436	N	0.001683	D	0.85898	0.5804	N	0.22421	0.69	0.52099	D	0.999949	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	D	0.87766	0.2602	10	0.87932	D	0	.	17.0718	0.86576	0.0:1.0:0.0:0.0	.	266;777	B3KQY4;Q16584	.;M3K11_HUMAN	Y	777;193;520	ENSP00000309597:D777Y;ENSP00000433886:D520Y	ENSP00000309597:D777Y	D	-	1	0	MAP3K11	65122553	0.996000	0.38824	0.995000	0.50966	0.830000	0.47004	3.622000	0.54217	2.633000	0.89246	0.655000	0.94253	GAT		0.677	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714	
MUS81	80198	hgsc.bcm.edu	37	11	65632009	65632009	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:65632009G>T	ENST00000308110.4	+	11	1450	c.1101G>T	c.(1099-1101)ctG>ctT	p.L367L	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Silent_p.L292L	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	367	ERCC4.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L367L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGGTATACCTGGTGGAAGAGC	0.617								Homologous recombination																													p.L367L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1101T	11						.						112.0	85.0	95.0					11																	65632009		2201	4296	6497	65388585	SO:0001819	synonymous_variant	80198	exon11				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1101G>T	11.37:g.65632009G>T		Somatic		Capture	SOLID	Phase_I	65388585	NM_025128	Q9H7D9	Silent	SNP	ENST00000308110.4	37	CCDS8115.1	.	.	.	.	.	.	.	.	.	.	G	8.187	0.795214	0.16327	.	.	ENSG00000172732	ENST00000529374	.	.	.	5.91	0.586	0.17434	.	.	.	.	.	T	0.45617	0.1351	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22173	-1.0224	4	.	.	.	-8.701	4.1767	0.10355	0.1337:0.2296:0.5183:0.1184	.	.	.	.	C	293	.	.	G	+	1	0	MUS81	65388585	1.000000	0.71417	0.319000	0.25293	0.928000	0.56348	1.119000	0.31258	-0.124000	0.11724	-0.324000	0.08512	GGT		0.617	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128	
SART1	9092	hgsc.bcm.edu	37	11	65745072	65745073	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	AA	AA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:65745072_65745073delAA	ENST00000312397.5	+	16	2076_2077	c.1984_1985delAA	c.(1984-1986)aagfs	p.K662fs		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	662					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K662fs*16(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCCCGGGTGAAGGCCCCCAAC	0.649																																					p.662_662del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1984_1985del	11						.																																			65501649	SO:0001589	frameshift_variant	9092	exon16			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1984_1985delAA	11.37:g.65745072_65745073delAA	ENSP00000310448:p.Lys662fs	Somatic		Capture	SOLID	Phase_I	65501648	NM_005146	A6NDN1|Q53GB5	Frame_Shift_Del	DEL	ENST00000312397.5	37	CCDS31611.1																																																																																				0.649	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1		
PELI3	246330	hgsc.bcm.edu	37	11	66238834	66238834	+	Missense_Mutation	SNP	G	G	A	rs139638621		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:66238834G>A	ENST00000320740.7	+	4	506	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000524466.1_Missense_Mutation_p.V116I|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.V92I	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	116					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V116I(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CACGCCGCTCGTCTCCAAGGC	0.677																																					p.V116I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G346A	11						.	G	ILE/VAL,ILE/VAL	1,4399	2.1+/-5.4	0,1,2199	85.0	69.0	74.0		274,346	2.5	1.0	11	dbSNP_134	74	0,8590		0,0,4295	no	missense,missense	PELI3	NM_001098510.1,NM_145065.2	29,29	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	92/446,116/470	66238834	1,12989	2200	4295	6495	65995410	SO:0001583	missense	246330	exon4			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.346G>A	11.37:g.66238834G>A	ENSP00000322532:p.Val116Ile	Somatic		Capture	SOLID	Phase_I	65995410	NM_145065	Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	ENST00000320740.7	37	CCDS31615.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588034	0.28268	2.27E-4	0.0	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000524466;ENST00000526296;ENST00000527230	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.27	2.46	0.29980	.	0.929311	0.08986	N	0.865070	T	0.35158	0.0922	N	0.22421	0.69	0.46131	D	0.998887	B;P;D	0.55800	0.003;0.918;0.973	B;B;P	0.46510	0.003;0.422;0.519	T	0.03566	-1.1024	10	0.40728	T	0.16	-9.4702	10.8234	0.46619	0.1739:0.0:0.8261:0.0	.	92;116;116	Q8N2H9-2;Q8N2H9;Q8N2H9-4	.;PELI3_HUMAN;.	I	92;116;116;9;116	ENSP00000309848:V92I;ENSP00000322532:V116I;ENSP00000434677:V116I;ENSP00000436722:V9I;ENSP00000432449:V116I	ENSP00000322532:V116I	V	+	1	0	PELI3	65995410	0.133000	0.22466	0.998000	0.56505	0.259000	0.26198	2.059000	0.41384	0.399000	0.25367	-1.556000	0.00890	GTC		0.677	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065	
DPP3	10072	hgsc.bcm.edu	37	11	66255448	66255448	+	Missense_Mutation	SNP	G	G	A	rs201608803		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:66255448G>A	ENST00000360510.2	+	6	702	c.637G>A	c.(637-639)Gag>Aag	p.E213K	DPP3_ENST00000531863.1_Missense_Mutation_p.E233K|DPP3_ENST00000532677.1_Missense_Mutation_p.E232K|DPP3_ENST00000530165.1_Missense_Mutation_p.E183K|DPP3_ENST00000453114.1_Missense_Mutation_p.E213K|DPP3_ENST00000541961.1_Missense_Mutation_p.E213K			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	213					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E213K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCCCTACTACGAGGTGCGGCT	0.577																																					p.E213K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G637A	11						.						75.0	70.0	72.0					11																	66255448		2200	4295	6495	66012024	SO:0001583	missense	10072	exon6			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.637G>A	11.37:g.66255448G>A	ENSP00000353701:p.Glu213Lys	Somatic		Capture	SOLID	Phase_I	66012024	NM_005700	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414952	0.42817	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000533725;ENST00000543807	T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92	4.42	2.28	0.28536	.	0.286237	0.39407	N	0.001367	T	0.27832	0.0685	M	0.80422	2.495	0.42086	D	0.991273	P;P	0.44309	0.832;0.625	B;B	0.35312	0.181;0.2	T	0.42616	-0.9441	10	0.62326	D	0.03	.	12.1028	0.53794	0.0:0.3301:0.6699:0.0	.	232;213	G3V1D3;Q9NY33	.;DPP3_HUMAN	K	233;232;213;213;213;183;111;111	ENSP00000432782:E233K;ENSP00000435284:E232K;ENSP00000353701:E213K;ENSP00000389943:E213K;ENSP00000440502:E213K;ENSP00000436941:E183K;ENSP00000434518:E111K	ENSP00000353701:E213K	E	+	1	0	DPP3	66012024	1.000000	0.71417	0.992000	0.48379	0.196000	0.23810	4.514000	0.60482	1.140000	0.42260	0.462000	0.41574	GAG		0.577	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2		
ZDHHC24	254359	hgsc.bcm.edu	37	11	66311234	66311234	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:66311234G>A	ENST00000310442.3	-	2	734	c.500C>T	c.(499-501)gCc>gTc	p.A167V	ACTN3_ENST00000502692.1_RNA|ZDHHC24_ENST00000526986.1_Missense_Mutation_p.A167V|ZDHHC24_ENST00000525925.1_5'UTR	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	167	Leu-rich.					integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.A167V(1)		endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						GGGCGTGTGGGCTCGCAGCAG	0.687											OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A167V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C500T	11						.						27.0	27.0	27.0					11																	66311234		2196	4290	6486	66067810	SO:0001583	missense	254359	exon2			BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.500C>T	11.37:g.66311234G>A	ENSP00000309429:p.Ala167Val	Somatic	1090	Capture	SOLID	Phase_I	66067810	NM_207340	Q6PEW7|Q9BSJ0	Missense_Mutation	SNP	ENST00000310442.3	37	CCDS8143.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939982	0.73557	.	.	ENSG00000174165	ENST00000526986;ENST00000310442	T;T	0.60299	0.2;1.82	3.91	3.91	0.45181	.	0.070453	0.56097	D	0.000035	T	0.59528	0.2200	N	0.25380	0.74	0.39609	D	0.969852	D;D	0.65815	0.995;0.982	D;P	0.69307	0.963;0.828	T	0.57883	-0.7734	10	0.30078	T	0.28	-13.4446	11.2834	0.49208	0.0:0.0:1.0:0.0	.	167;167	E9PLR9;Q6UX98	.;ZDH24_HUMAN	V	167	ENSP00000431321:A167V;ENSP00000309429:A167V	ENSP00000309429:A167V	A	-	2	0	ZDHHC24	66067810	1.000000	0.71417	0.971000	0.41717	0.887000	0.51463	4.349000	0.59385	2.027000	0.59764	0.462000	0.41574	GCC		0.687	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340	
CCDC87	55231	hgsc.bcm.edu	37	11	66358684	66358684	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:66358684G>T	ENST00000333861.3	-	1	1870	c.1803C>A	c.(1801-1803)ctC>ctA	p.L601L	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	601					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.L601L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CATGGTTGGTGAGGTACTTGA	0.468																																					p.L601L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1803A	11						.						149.0	137.0	141.0					11																	66358684		2200	4295	6495	66115260	SO:0001819	synonymous_variant	55231	exon1			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1803C>A	11.37:g.66358684G>T		Somatic		Capture	SOLID	Phase_I	66115260	NM_018219	Q8NE76	Silent	SNP	ENST00000333861.3	37	CCDS8145.1																																																																																				0.468	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219	
CCS	9973	hgsc.bcm.edu	37	11	66373206	66373206	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:66373206C>T	ENST00000533244.1	+	8	1146	c.705C>T	c.(703-705)ggC>ggT	p.G235G	CCS_ENST00000310190.4_Silent_p.G216G	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	235					copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)	p.G235G(1)		breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCTCCGCTGGCCTTTTCCAGA	0.627																																					p.G235G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C705T	11						.						88.0	82.0	84.0					11																	66373206		2200	4295	6495	66129782	SO:0001819	synonymous_variant	9973	exon8			AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.705C>T	11.37:g.66373206C>T		Somatic		Capture	SOLID	Phase_I	66129782	NM_005125	Q2M366|Q8NEV0	Silent	SNP	ENST00000533244.1	37	CCDS8146.1																																																																																				0.627	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125	
SPTBN2	6712	hgsc.bcm.edu	37	11	66457401	66457401	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:66457401C>T	ENST00000533211.1	-	29	6155	c.5824G>A	c.(5824-5826)Gcg>Acg	p.A1942T	SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1942T|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1942T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1942					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.A1942T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ACTAGATCCGCGGAGGACACA	0.632																																					p.A1942T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5824A	11						.						96.0	91.0	93.0					11																	66457401		2200	4295	6495	66213977	SO:0001583	missense	6712	exon28			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5824G>A	11.37:g.66457401C>T	ENSP00000432568:p.Ala1942Thr	Somatic		Capture	SOLID	Phase_I	66213977	NM_006946	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466565	0.96257	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.50001	0.76;0.76;0.76	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	M	0.71581	2.175	0.80722	D	1	D	0.57899	0.981	P	0.51079	0.658	T	0.65389	-0.6180	10	0.72032	D	0.01	.	17.4906	0.87702	0.0:1.0:0.0:0.0	.	1942	O15020	SPTN2_HUMAN	T	1942	ENSP00000432568:A1942T;ENSP00000311489:A1942T;ENSP00000433593:A1942T	ENSP00000311489:A1942T	A	-	1	0	SPTBN2	66213977	0.989000	0.36119	0.975000	0.42487	0.993000	0.82548	7.604000	0.82830	2.664000	0.90586	0.655000	0.94253	GCG		0.632	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	
ALDH3B2	222	hgsc.bcm.edu	37	11	67431176	67431176	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:67431176G>A	ENST00000349015.3	-	9	1368	c.930C>T	c.(928-930)ggC>ggT	p.G310G	ALDH3B2_ENST00000530069.1_Silent_p.G310G|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	310					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.G310G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						TGTAGGTGAAGCCCTCATTGC	0.592																																					p.G310G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C930T	11						.						106.0	93.0	98.0					11																	67431176		2200	4294	6494	67187752	SO:0001819	synonymous_variant	222	exon9			U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.930C>T	11.37:g.67431176G>A		Somatic		Capture	SOLID	Phase_I	67187752	NM_000695	Q53Y98|Q8NAL5|Q96IB2	Silent	SNP	ENST00000349015.3	37	CCDS31622.1																																																																																				0.592	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695	
CPT1A	1374	hgsc.bcm.edu	37	11	68540771	68540771	+	Missense_Mutation	SNP	C	C	T	rs1046804		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:68540771C>T	ENST00000265641.5	-	14	1856	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	CPT1A_ENST00000376618.2_Missense_Mutation_p.A568T|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000539743.1_Missense_Mutation_p.A568T|CPT1A_ENST00000540367.1_Missense_Mutation_p.A568T	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	568				A -> T (in Ref. 1; AAC41748). {ECO:0000305}.	carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.A568T(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TGCACAAAGGCGTCTGGGCTC	0.532																																					p.A568T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1702A	11						.						85.0	75.0	78.0					11																	68540771		2200	4294	6494	68297347	SO:0001583	missense	1374	exon14			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1702G>A	11.37:g.68540771C>T	ENSP00000265641:p.Ala568Thr	Somatic		Capture	SOLID	Phase_I	68297347	NM_001031847	Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086546	0.94100	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	4.97	4.97	0.65823	.	0.056759	0.64402	D	0.000001	D	0.93693	0.7985	M	0.85945	2.785	0.80722	D	1	P;D	0.71674	0.926;0.998	P;D	0.64595	0.538;0.927	D	0.94117	0.7376	10	0.54805	T	0.06	.	18.588	0.91197	0.0:1.0:0.0:0.0	rs1046804	568;568	P50416;P50416-2	CPT1A_HUMAN;.	T	568	ENSP00000439084:A568T;ENSP00000365803:A568T;ENSP00000265641:A568T;ENSP00000446108:A568T	ENSP00000265641:A568T	A	-	1	0	CPT1A	68297347	1.000000	0.71417	0.406000	0.26421	0.839000	0.47603	7.458000	0.80787	2.469000	0.83416	0.297000	0.19635	GCC		0.532	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876	
TPCN2	219931	hgsc.bcm.edu	37	11	68846390	68846392	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	CTG	CTG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:68846390_68846392delCTG	ENST00000294309.3	+	16	1542_1544	c.1441_1443delCTG	c.(1441-1443)ctgdel	p.L482del	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_In_Frame_Del_p.L482del	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	482					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.L481delL(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGTGTACTACCTGTTGGAGATGC	0.596																																					p.481_481del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1441_1443del	11						.																																			68602968	SO:0001651	inframe_deletion	219931	exon16			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1441_1443delCTG	11.37:g.68846390_68846392delCTG	ENSP00000294309:p.Leu482del	Somatic		Capture	SOLID	Phase_I	68602966	NM_139075	Q9NT82	In_Frame_Del	DEL	ENST00000294309.3	37	CCDS8189.1																																																																																				0.596	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	
TPCN2	219931	hgsc.bcm.edu	37	11	68846395	68846395	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:68846395G>T	ENST00000294309.3	+	16	1547	c.1446G>T	c.(1444-1446)ttG>ttT	p.L482F	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.L482F	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	482					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.L482F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACTACCTGTTGGAGATGCTGC	0.587																																					p.L482F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1446T	11						.						131.0	114.0	120.0					11																	68846395		2200	4294	6494	68602971	SO:0001583	missense	219931	exon16			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1446G>T	11.37:g.68846395G>T	ENSP00000294309:p.Leu482Phe	Somatic		Capture	SOLID	Phase_I	68602971	NM_139075	Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	CCDS8189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.926|7.926	0.739664|0.739664	0.15642|0.15642	.|.	.|.	ENSG00000162341|ENSG00000162341	ENST00000294309;ENST00000535009;ENST00000542467|ENST00000356782	D;D|.	0.98567|.	-5.0;-5.0|.	4.35|4.35	3.42|3.42	0.39159|0.39159	Ion transport (1);|.	0.734015|.	0.12019|.	N|.	0.507200|.	T|T	0.50803|0.50803	0.1637|0.1637	L|L	0.60455|0.60455	1.87|1.87	0.41396|0.41396	D|D	0.987646|0.987646	B;B;B|.	0.30914|.	0.3;0.176;0.027|.	B;B;B|.	0.28916|.	0.096;0.046;0.034|.	T|T	0.46693|0.46693	-0.9173|-0.9173	10|6	0.42905|0.02654	T|T	0.14|1	-3.9889|-3.9889	8.0134|8.0134	0.30365|0.30365	0.1879:0.0:0.8121:0.0|0.1879:0.0:0.8121:0.0	.|.	482;482;397|.	E7ETX0;Q8NHX9;F5H1G5|.	.;TPC2_HUMAN;.|.	F|L	482;397;482|356	ENSP00000294309:L482F;ENSP00000445551:L482F|.	ENSP00000294309:L482F|ENSP00000349231:W356L	L|W	+|+	3|2	2|0	TPCN2|TPCN2	68602971|68602971	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.297000|0.297000	0.27493|0.27493	2.067000|2.067000	0.41461|0.41461	1.981000|1.981000	0.57761|0.57761	0.462000|0.462000	0.41574|0.41574	TTG|TGG		0.587	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	
ARAP1	116985	hgsc.bcm.edu	37	11	72409061	72409061	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:72409061G>A	ENST00000393609.3	-	19	2834	c.2632C>T	c.(2632-2634)Cgg>Tgg	p.R878W	ARAP1_ENST00000429686.1_Missense_Mutation_p.R572W|ARAP1_ENST00000334211.8_Missense_Mutation_p.R633W|ARAP1_ENST00000426523.1_Missense_Mutation_p.R633W|ARAP1_ENST00000359373.5_Missense_Mutation_p.R878W|ARAP1_ENST00000393605.3_Missense_Mutation_p.R638W|ARAP1_ENST00000455638.2_Missense_Mutation_p.R878W|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000495878.1_5'UTR	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	878					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.R638W(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCCTGGGCCCGCTGTAGGCTC	0.647																																					p.R878W	Ovarian(102;1198 1520 13195 17913 37529)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2632T	11						.						22.0	28.0	26.0					11																	72409061		2198	4290	6488	72086709	SO:0001583	missense	116985	exon19			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2632C>T	11.37:g.72409061G>A	ENSP00000377233:p.Arg878Trp	Somatic		Capture	SOLID	Phase_I	72086709	NM_001040118	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836864	0.71373	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383	T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.44	3.29	0.37713	Pleckstrin homology domain (1);	0.689763	0.13922	N	0.353524	T	0.39009	0.1062	L	0.44542	1.39	0.23708	N	0.997056	D;D;D;D;D	0.89917	0.986;1.0;0.99;0.986;0.992	P;P;P;P;P	0.62740	0.453;0.906;0.702;0.582;0.761	T	0.13019	-1.0525	10	0.40728	T	0.16	.	5.3456	0.16008	0.202:0.0:0.6421:0.1559	.	633;572;878;878;638	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	W	878;878;638;633;878;633;572;166;166	ENSP00000352332:R878W;ENSP00000390461:R878W;ENSP00000377230:R638W;ENSP00000335506:R633W;ENSP00000377233:R878W;ENSP00000392264:R633W;ENSP00000403127:R572W;ENSP00000411452:R166W;ENSP00000399118:R166W	ENSP00000335506:R633W	R	-	1	2	ARAP1	72086709	0.996000	0.38824	0.998000	0.56505	0.990000	0.78478	2.705000	0.47127	0.483000	0.27608	-0.311000	0.09066	CGG		0.647	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118	
ARHGEF17	9828	hgsc.bcm.edu	37	11	73072143	73072143	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:73072143A>C	ENST00000263674.3	+	12	4781	c.4431A>C	c.(4429-4431)aaA>aaC	p.K1477N		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1477					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K1477N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CATCCAGCAAAAGCTGTCTAG	0.552																																					p.K1477N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4431C	11						.						180.0	134.0	149.0					11																	73072143		2200	4293	6493	72749791	SO:0001583	missense	9828	exon12			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4431A>C	11.37:g.73072143A>C	ENSP00000263674:p.Lys1477Asn	Somatic		Capture	SOLID	Phase_I	72749791	NM_014786	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858032	0.71834	.	.	ENSG00000110237	ENST00000263674	T	0.33438	1.41	5.91	3.62	0.41486	.	0.053618	0.64402	D	0.000001	T	0.43942	0.1270	L	0.56769	1.78	0.46874	D	0.999236	D	0.89917	1.0	D	0.68765	0.96	T	0.27123	-1.0083	10	0.16420	T	0.52	-10.7343	9.3641	0.38215	0.8575:0.0:0.1425:0.0	.	1477	Q96PE2	ARHGH_HUMAN	N	1477	ENSP00000263674:K1477N	ENSP00000263674:K1477N	K	+	3	2	ARHGEF17	72749791	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.099000	0.50267	0.509000	0.28195	0.533000	0.62120	AAA		0.552	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786	
SERPINH1	871	hgsc.bcm.edu	37	11	75282887	75282887	+	Missense_Mutation	SNP	G	G	A	rs535510332		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:75282887G>A	ENST00000524558.1	+	5	2451	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	SERPINH1_ENST00000358171.3_Missense_Mutation_p.R339H|SERPINH1_ENST00000525876.1_Missense_Mutation_p.R122H|SERPINH1_ENST00000533603.1_Missense_Mutation_p.R339H			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	339					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R339H(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GACTTGTCACGCATGTCAGGC	0.587																																					p.R339H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1016A	11						.						67.0	52.0	57.0					11																	75282887		2200	4293	6493	74960535	SO:0001583	missense	871	exon5			X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.1016G>A	11.37:g.75282887G>A	ENSP00000434412:p.Arg339His	Somatic		Capture	SOLID	Phase_I	74960535	NM_001235	B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554527	0.65425	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000421448;ENST00000524558;ENST00000525876	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.27	4.34	0.51931	Serpin domain (3);	0.165830	0.51477	D	0.000094	T	0.73337	0.3574	N	0.08118	0	0.22112	N	0.999352	P	0.45011	0.848	B	0.41946	0.371	T	0.68334	-0.5436	10	0.72032	D	0.01	.	7.375	0.26823	0.1813:0.0:0.8186:0.0	.	339	P50454	SERPH_HUMAN	H	339;339;318;339;122	ENSP00000434657:R339H;ENSP00000350894:R339H;ENSP00000434412:R339H;ENSP00000433532:R122H	ENSP00000350894:R339H	R	+	2	0	SERPINH1	74960535	1.000000	0.71417	0.970000	0.41538	0.938000	0.57974	4.268000	0.58883	2.619000	0.88677	0.561000	0.74099	CGC		0.587	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353	
RSF1	51773	hgsc.bcm.edu	37	11	77378483	77378483	+	Missense_Mutation	SNP	G	G	A	rs199889950		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:77378483G>A	ENST00000308488.6	-	16	4107	c.3805C>T	c.(3805-3807)Cgg>Tgg	p.R1269W	RSF1_ENST00000360355.2_Missense_Mutation_p.R1238W|RSF1_ENST00000480887.1_Missense_Mutation_p.R1017W			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1269					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.R1269W(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CGAACTGACCGCTTTGATTCT	0.478																																					p.R1269W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3805T	11						.	G	TRP/ARG	1,4399	2.1+/-5.4	0,1,2199	67.0	68.0	68.0		3805	5.1	1.0	11		68	2,8582	1.2+/-3.3	0,2,4290	no	missense	RSF1	NM_016578.3	101	0,3,6489	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	1269/1442	77378483	3,12981	2200	4292	6492	77056131	SO:0001583	missense	51773	exon16			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3805C>T	11.37:g.77378483G>A	ENSP00000311513:p.Arg1269Trp	Somatic		Capture	SOLID	Phase_I	77056131	NM_016578	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131860	0.56828	2.27E-4	2.33E-4	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355	D;D;D	0.90620	-2.69;-2.7;-2.68	5.13	5.13	0.70059	.	0.319059	0.22906	N	0.054187	D	0.89860	0.6837	L	0.34521	1.04	0.31798	N	0.62877	D	0.76494	0.999	P	0.53689	0.732	D	0.90598	0.4542	10	0.72032	D	0.01	-0.6663	14.1733	0.65525	0.0:0.0:0.8497:0.1503	.	1269	Q96T23	RSF1_HUMAN	W	1269;1017;1238	ENSP00000311513:R1269W;ENSP00000434509:R1017W;ENSP00000353511:R1238W	ENSP00000311513:R1269W	R	-	1	2	RSF1	77056131	0.950000	0.32346	1.000000	0.80357	0.921000	0.55340	2.143000	0.42187	2.681000	0.91329	0.462000	0.41574	CGG		0.478	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578	
CCDC81	60494	hgsc.bcm.edu	37	11	86123434	86123434	+	Silent	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:86123434C>A	ENST00000445632.2	+	11	1496	c.1224C>A	c.(1222-1224)tcC>tcA	p.S408S	CCDC81_ENST00000354755.1_Silent_p.S318S|CCDC81_ENST00000278487.3_Silent_p.S143S|CCDC81_ENST00000528728.1_Silent_p.S143S	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	408								p.S318S(1)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TCTAGAAATCCTTCCTATTTG	0.358																																					p.S318S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C954A	11						.						98.0	99.0	98.0					11																	86123434		2202	4299	6501	85801082	SO:0001819	synonymous_variant	60494	exon10			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1224C>A	11.37:g.86123434C>A		Somatic		Capture	SOLID	Phase_I	85801082	NM_021827	A0AVL7|Q53FW3|Q9H5E5	Silent	SNP	ENST00000445632.2	37	CCDS53691.1																																																																																				0.358	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827	
NAALAD2	10003	hgsc.bcm.edu	37	11	89902146	89902146	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:89902146A>G	ENST00000534061.1	+	12	1558	c.1328A>G	c.(1327-1329)gAt>gGt	p.D443G	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.D410G	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	443	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATCAACTCGGATTCATCTATA	0.289																																					p.D443G												.	.	0			c.A1328G	11						.						55.0	60.0	58.0					11																	89902146		2201	4295	6496	89541794	SO:0001583	missense	10003	exon12			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1328A>G	11.37:g.89902146A>G	ENSP00000432481:p.Asp443Gly	Somatic		Capture	SOLID	Phase_I	89541794	NM_005467	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474456	0.84640	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.73681	-0.77;-0.77	5.75	5.75	0.90469	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	D	0.90686	0.7078	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93540	0.6877	9	.	.	.	-30.6829	16.1215	0.81361	1.0:0.0:0.0:0.0	.	443	Q9Y3Q0	NALD2_HUMAN	G	443;410	ENSP00000432481:D443G;ENSP00000320083:D410G	.	D	+	2	0	NAALAD2	89541794	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.132000	0.89603	2.209000	0.71365	0.529000	0.55759	GAT		0.289	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	
NTM	50863	hgsc.bcm.edu	37	11	132016270	132016270	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr11:132016270G>A	ENST00000374786.1	+	2	741	c.262G>A	c.(262-264)Gtg>Atg	p.V88M	NTM_ENST00000427481.2_Missense_Mutation_p.V79M|NTM_ENST00000374784.1_Missense_Mutation_p.V88M|NTM_ENST00000374791.3_Missense_Mutation_p.V88M|NTM_ENST00000425719.2_Missense_Mutation_p.V88M|NTM_ENST00000539799.1_Missense_Mutation_p.V88M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	88	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V88M(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGATCCTCGCGTGGTCCTTCT	0.567																																					p.V88M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G262A	11						.						188.0	134.0	153.0					11																	132016270		2201	4297	6498	131521480	SO:0001583	missense	50863	exon2			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.262G>A	11.37:g.132016270G>A	ENSP00000363918:p.Val88Met	Somatic		Capture	SOLID	Phase_I	131521480	NM_001144058	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097068	0.94197	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.78916	2.43	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.998;0.999;0.998;0.999	T	0.60860	-0.7179	10	0.56958	D	0.05	-12.1744	19.819	0.96583	0.0:0.0:1.0:0.0	.	88;79;88;88;88;88	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	M	88;88;79;79;88;88;88	ENSP00000363923:V88M;ENSP00000437668:V88M;ENSP00000448104:V79M;ENSP00000416320:V79M;ENSP00000363918:V88M;ENSP00000396722:V88M;ENSP00000363916:V88M	ENSP00000363916:V88M	V	+	1	0	NTM	131521480	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.987000	0.88182	2.691000	0.91804	0.655000	0.94253	GTG		0.567	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522	
USP45	85015	hgsc.bcm.edu	37	6	99936601	99936601	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:99936601T>A	ENST00000327681.6	-	6	1106	c.574A>T	c.(574-576)Att>Ttt	p.I192F	USP45_ENST00000500704.2_Missense_Mutation_p.I192F|USP45_ENST00000369233.2_Missense_Mutation_p.I192F|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000329966.6_Missense_Mutation_p.I192F|USP45_ENST00000472914.2_Missense_Mutation_p.I192F	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	192	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.I192F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		AAATTTGTAATTCCTCTTACA	0.303																																					p.I192F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A574T	6						.						85.0	83.0	84.0					6																	99936601		2201	4299	6500	100043322	SO:0001583	missense	85015	exon6			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.574A>T	6.37:g.99936601T>A	ENSP00000333376:p.Ile192Phe	Somatic		Capture	SOLID	Phase_I	100043322	NM_001080481	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.531013	0.45073	.	.	ENSG00000123552	ENST00000500704;ENST00000327681;ENST00000369233;ENST00000329966;ENST00000472914	T;T;T;T;T	0.32272	4.08;4.08;1.46;1.5;1.5	5.41	4.24	0.50183	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.43923	1.385	0.80722	D	1	D;P	0.76494	0.999;0.71	D;P	0.73380	0.98;0.724	T	0.21552	-1.0242	10	0.72032	D	0.01	.	12.5944	0.56461	0.0:0.0:0.1389:0.8611	.	192;192	D6RBV3;Q70EL2	.;UBP45_HUMAN	F	192	ENSP00000424372:I192F;ENSP00000333376:I192F;ENSP00000358236:I192F;ENSP00000330540:I192F;ENSP00000423993:I192F	ENSP00000333376:I192F	I	-	1	0	USP45	100043322	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	4.271000	0.58902	0.983000	0.38602	-0.389000	0.06534	ATT		0.303	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929	
PRDM1	639	hgsc.bcm.edu	37	6	106553111	106553111	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:106553111C>T	ENST00000369096.4	+	5	1310	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M	PRDM1_ENST00000369091.2_Missense_Mutation_p.T323M|PRDM1_ENST00000369089.3_Missense_Mutation_p.T225M	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	359					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T323M(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCTGGGAATACGGTGTCCCCT	0.632			"""D, N, Mis, F, S"""		DLBCL																																p.T359M			Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1076T	6						.						66.0	58.0	60.0					6																	106553111		2203	4300	6503	106659804	SO:0001583	missense	639	exon5				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1076C>T	6.37:g.106553111C>T	ENSP00000358092:p.Thr359Met	Somatic		Capture	SOLID	Phase_I	106659804	NM_001198	B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703606	0.48412	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.42900	0.96;0.96;0.96	5.51	4.59	0.56863	.	0.266042	0.39407	N	0.001372	T	0.31638	0.0803	L	0.51422	1.61	0.37558	D	0.918959	P;P	0.49090	0.919;0.919	B;B	0.43809	0.432;0.432	T	0.30851	-0.9964	10	0.66056	D	0.02	-16.9376	15.7982	0.78428	0.0:0.8639:0.1361:0.0	.	225;359	Q86WM7;O75626	.;PRDM1_HUMAN	M	323;359;323;225	ENSP00000358087:T323M;ENSP00000358092:T359M;ENSP00000358085:T225M	ENSP00000358085:T225M	T	+	2	0	PRDM1	106659804	0.997000	0.39634	0.685000	0.30070	0.297000	0.27493	5.370000	0.66144	2.603000	0.88011	0.655000	0.94253	ACG		0.632	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3		
AIM1	202	hgsc.bcm.edu	37	6	107008770	107008770	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:107008770G>A	ENST00000369066.3	+	17	5211	c.4724G>A	c.(4723-4725)cGc>cAc	p.R1575H	AIM1_ENST00000535438.1_Missense_Mutation_p.R394H	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R1575H(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGTGGCTGTCGCCAAATAGGT	0.403																																					p.R1575H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4724A	6						.						140.0	143.0	142.0					6																	107008770		2203	4300	6503	107115463	SO:0001583	missense	202	exon17			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4724G>A	6.37:g.107008770G>A	ENSP00000358062:p.Arg1575His	Somatic		Capture	SOLID	Phase_I	107115463	NM_001624	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477308	0.44044	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	T;T	0.76186	-1.0;-1.0	5.9	1.21	0.21127	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.513748	0.21066	N	0.080760	T	0.40222	0.1108	L	0.28556	0.865	0.23923	N	0.996457	B;B	0.16166	0.015;0.016	B;B	0.13407	0.004;0.009	T	0.36163	-0.9759	10	0.44086	T	0.13	.	9.9205	0.41462	0.4615:0.0:0.5385:0.0	.	394;1575	B4DU04;Q9Y4K1	.;AIM1_HUMAN	H	1575;394	ENSP00000358062:R1575H;ENSP00000439183:R394H	ENSP00000358062:R1575H	R	+	2	0	AIM1	107115463	0.880000	0.30214	0.987000	0.45799	0.996000	0.88848	0.923000	0.28757	-0.057000	0.13199	-0.150000	0.13652	CGC		0.403	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
PDSS2	57107	hgsc.bcm.edu	37	6	107531774	107531774	+	Splice_Site	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:107531774T>C	ENST00000369037.4	-	6	1154	c.877A>G	c.(877-879)Ata>Gta	p.I293V	PDSS2_ENST00000453874.2_Intron	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	293					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.I293V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		TCAGAATTTATCTACAAGAAG	0.313																																					p.I293V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A877G	6						.						49.0	53.0	51.0					6																	107531774		2203	4300	6503	107638467	SO:0001630	splice_region_variant	57107	exon6			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.877-1A>G	6.37:g.107531774T>C		Somatic		Capture	SOLID	Phase_I	107638467	NM_020381	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	ENST00000369037.4	37	CCDS5059.1	.	.	.	.	.	.	.	.	.	.	T	1.636	-0.517743	0.04171	.	.	ENSG00000164494	ENST00000369037;ENST00000449027;ENST00000369033	T	0.68181	-0.31	5.85	5.85	0.93711	Terpenoid synthase (2);	0.103999	0.64402	D	0.000003	T	0.41305	0.1153	L	0.33485	1.01	0.80722	D	1	P;P	0.35468	0.503;0.503	B;B	0.36989	0.238;0.238	T	0.42732	-0.9434	10	0.25106	T	0.35	.	11.6565	0.51322	0.0:0.0:0.2648:0.7352	.	293;293	B2RE48;Q86YH6	.;DLP1_HUMAN	V	293;18;27	ENSP00000358033:I293V	ENSP00000358029:I27V	I	-	1	0	PDSS2	107638467	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	2.608000	0.46308	2.231000	0.72958	0.459000	0.35465	ATA		0.313	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381	Missense_Mutation
NCOA7	135112	hgsc.bcm.edu	37	6	126236493	126236493	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:126236493A>G	ENST00000368357.3	+	12	2463	c.2111A>G	c.(2110-2112)tAc>tGc	p.Y704C	NCOA7_ENST00000392477.2_Missense_Mutation_p.Y704C|NCOA7_ENST00000229634.9_Missense_Mutation_p.Y589C	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	704					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.Y704C(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GATCATTTGTACACATTCTTT	0.433																																					p.Y704C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2111G	6						.						221.0	186.0	197.0					6																	126236493		2203	4300	6503	126278186	SO:0001583	missense	135112	exon13			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2111A>G	6.37:g.126236493A>G	ENSP00000357341:p.Tyr704Cys	Somatic		Capture	SOLID	Phase_I	126278186	NM_001199620	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.638145	0.67130	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000433571;ENST00000368353	T;T;T;T	0.49720	1.71;1.71;1.74;0.77	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	M	0.66439	2.03	0.58432	D	0.999994	D;D;D	0.64830	0.99;0.994;0.99	P;P;P	0.56865	0.647;0.808;0.647	T	0.59451	-0.7452	10	0.62326	D	0.03	-13.2624	16.198	0.82043	1.0:0.0:0.0:0.0	.	693;693;704	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	C	704;704;589;14;14	ENSP00000357341:Y704C;ENSP00000376269:Y704C;ENSP00000229634:Y589C;ENSP00000411002:Y14C	ENSP00000229634:Y589C	Y	+	2	0	NCOA7	126278186	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.803000	0.69129	2.282000	0.76494	0.533000	0.62120	TAC		0.433	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748	
LAMA2	3908	hgsc.bcm.edu	37	6	129622017	129622017	+	Splice_Site	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:129622017G>T	ENST00000421865.2	+	22	3223	c.3174G>T	c.(3172-3174)aaG>aaT	p.K1058N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1058	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.K1058N(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGGTTGTAAGGTGAGTGAAC	0.398																																					p.K1058N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3174T	6						.						122.0	121.0	121.0					6																	129622017		2203	4300	6503	129663710	SO:0001630	splice_region_variant	3908	exon22			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3174+1G>T	6.37:g.129622017G>T		Somatic		Capture	SOLID	Phase_I	129663710	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828582	0.90955	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.35236	1.32	5.57	5.57	0.84162	EGF-like, laminin (2);	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.77557	0.972;0.99	T	0.58934	-0.7548	10	0.62326	D	0.03	.	19.5533	0.95330	0.0:0.0:1.0:0.0	.	1058;1058	A6NF00;P24043	.;LAMA2_HUMAN	N	1058	ENSP00000400365:K1058N	ENSP00000346769:K1058N	K	+	3	2	LAMA2	129663710	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.471000	0.97696	2.623000	0.88846	0.585000	0.79938	AAG		0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Missense_Mutation
LAMA2	3908	hgsc.bcm.edu	37	6	129722433	129722433	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:129722433A>G	ENST00000421865.2	+	38	5559	c.5510A>G	c.(5509-5511)gAc>gGc	p.D1837G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1837	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.D1837G(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGGGCAATGACATACTCGAT	0.383																																					p.D1837G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5510G	6						.						142.0	138.0	139.0					6																	129722433		2203	4300	6503	129764126	SO:0001583	missense	3908	exon38			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5510A>G	6.37:g.129722433A>G	ENSP00000400365:p.Asp1837Gly	Somatic		Capture	SOLID	Phase_I	129764126	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.330836	0.24167	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.11604	2.76	5.28	5.28	0.74379	Laminin I (1);	0.240177	0.42172	D	0.000750	T	0.07999	0.0200	L	0.32530	0.975	0.35370	D	0.788982	D;P	0.54601	0.967;0.936	P;P	0.54815	0.761;0.652	T	0.29305	-1.0016	10	0.28530	T	0.3	.	11.5084	0.50481	0.8502:0.1498:0.0:0.0	.	1837;1837	A6NF00;P24043	.;LAMA2_HUMAN	G	1837	ENSP00000400365:D1837G	ENSP00000346769:D1837G	D	+	2	0	LAMA2	129764126	1.000000	0.71417	0.939000	0.37840	0.841000	0.47740	3.744000	0.55112	2.120000	0.65058	0.533000	0.62120	GAC		0.383	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
ARHGAP18	93663	hgsc.bcm.edu	37	6	129921941	129921941	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:129921941A>C	ENST00000368149.2	-	11	1506	c.1418T>G	c.(1417-1419)aTg>aGg	p.M473R	ARHGAP18_ENST00000463225.1_5'Flank	NM_033515.2	NP_277050.2			Rho GTPase activating protein 18									p.M473R(1)		NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CATGACTGTCATTTTATTTTT	0.358																																					p.M473R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1418G	6						.						76.0	74.0	75.0					6																	129921941		2203	4300	6503	129963634	SO:0001583	missense	93663	exon11			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1418T>G	6.37:g.129921941A>C	ENSP00000357131:p.Met473Arg	Somatic		Capture	SOLID	Phase_I	129963634	NM_033515		Missense_Mutation	SNP	ENST00000368149.2	37	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126869	0.77549	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.75	5.75	0.90469	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.90106	0.6909	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.94255	0.7497	8	.	.	.	.	16.0623	0.80847	1.0:0.0:0.0:0.0	.	473;473	A9UK01;Q8N392	.;RHG18_HUMAN	R	428;473	.	.	M	-	2	0	ARHGAP18	129963634	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	8.962000	0.93254	2.195000	0.70347	0.533000	0.62120	ATG		0.358	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515	
SAMD3	154075	hgsc.bcm.edu	37	6	130497026	130497026	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:130497026G>A	ENST00000368134.2	-	10	1390	c.782C>T	c.(781-783)gCt>gTt	p.A261V	SAMD3_ENST00000532763.1_Missense_Mutation_p.A259V|SAMD3_ENST00000457563.2_Missense_Mutation_p.A285V|SAMD3_ENST00000437477.2_Missense_Mutation_p.A261V|SAMD3_ENST00000533296.1_5'Flank|SAMD3_ENST00000439090.2_Missense_Mutation_p.A261V	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	261								p.A261V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TCTTATATCAGCAAGAGATTT	0.328																																					p.A261V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C782T	6						.						98.0	102.0	101.0					6																	130497026		2202	4300	6502	130538719	SO:0001583	missense	154075	exon8			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.782C>T	6.37:g.130497026G>A	ENSP00000357116:p.Ala261Val	Somatic		Capture	SOLID	Phase_I	130538719	NM_001017373	B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847405	0.32606	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763	T;T;T;T;T	0.48836	0.86;0.85;0.86;0.86;0.8	5.69	2.9	0.33743	.	0.643206	0.15165	N	0.276949	T	0.19525	0.0469	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23726	-1.0180	10	0.36615	T	0.2	.	5.27	0.15620	0.2301:0.0:0.6262:0.1437	.	261	Q8N6K7	SAMD3_HUMAN	V	261;285;261;261;259	ENSP00000357116:A261V;ENSP00000402092:A285V;ENSP00000403565:A261V;ENSP00000391163:A261V;ENSP00000436088:A259V	ENSP00000357116:A261V	A	-	2	0	SAMD3	130538719	0.734000	0.28142	0.992000	0.48379	0.498000	0.33706	1.172000	0.31908	0.316000	0.23135	0.655000	0.94253	GCT		0.328	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552	
TBC1D7	51256	hgsc.bcm.edu	37	6	13327071	13327071	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:13327071A>G	ENST00000379300.3	-	2	303	c.60T>C	c.(58-60)cgT>cgC	p.R20R	TBC1D7_ENST00000607658.1_Silent_p.R20R|TBC1D7_ENST00000356436.4_Silent_p.R20R|TBC1D7_ENST00000343141.4_Silent_p.R20R|TBC1D7_ENST00000379307.2_Silent_p.R20R|TBC1D7_ENST00000607532.1_5'UTR	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	20					activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.R20R(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTTCAACTCCACGAAACCCCA	0.373																																					p.R20R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T60C	6						.						84.0	86.0	85.0					6																	13327071		2203	4300	6503	13435050	SO:0001819	synonymous_variant	51256	exon2			AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.60T>C	6.37:g.13327071A>G		Somatic		Capture	SOLID	Phase_I	13435050	NM_001143965	E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Silent	SNP	ENST00000379300.3	37	CCDS4523.1																																																																																				0.373	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495	
TMEM200A	114801	hgsc.bcm.edu	37	6	130762405	130762405	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:130762405A>T	ENST00000296978.3	+	3	1709	c.838A>T	c.(838-840)Att>Ttt	p.I280F	TMEM200A_ENST00000392429.1_Missense_Mutation_p.I280F|TMEM200A_ENST00000545622.1_Missense_Mutation_p.I280F	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	280						integral component of membrane (GO:0016021)		p.I280F(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AACCAAGTCAATTGTGTCATC	0.428																																					p.I280F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A838T	6						.						147.0	145.0	146.0					6																	130762405		2203	4300	6503	130804098	SO:0001583	missense	114801	exon2			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.838A>T	6.37:g.130762405A>T	ENSP00000296978:p.Ile280Phe	Somatic		Capture	SOLID	Phase_I	130804098	NM_052913	Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.536831	0.85812	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.59729	0.2215	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.66320	-0.5953	9	0.72032	D	0.01	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	280	Q86VY9	T200A_HUMAN	F	280	.	ENSP00000296978:I280F	I	+	1	0	TMEM200A	130804098	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	ATT		0.428	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913	
NMBR	4829	hgsc.bcm.edu	37	6	142409490	142409490	+	Silent	SNP	C	C	T	rs544695044		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:142409490C>T	ENST00000258042.1	-	1	446	c.306G>A	c.(304-306)tcG>tcA	p.S102S	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	102					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.S102S(1)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AGAAGTAGCGCGAGGCGTCCA	0.597																																					p.S102S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G306A	6						.						73.0	61.0	65.0					6																	142409490		2203	4300	6503	142451183	SO:0001819	synonymous_variant	4829	exon1				CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.306G>A	6.37:g.142409490C>T		Somatic		Capture	SOLID	Phase_I	142451183	NM_002511	E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	CCDS5196.1																																																																																				0.597	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1		
GRM1	2911	hgsc.bcm.edu	37	6	146350924	146350924	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:146350924G>A	ENST00000282753.1	+	1	506	c.271G>A	c.(271-273)Gcg>Acg	p.A91T	GRM1_ENST00000507907.1_Missense_Mutation_p.A91T|GRM1_ENST00000355289.4_Missense_Mutation_p.A91T|GRM1_ENST00000361719.2_Missense_Mutation_p.A91T|GRM1_ENST00000392299.2_Missense_Mutation_p.A91T|GRM1_ENST00000492807.2_Missense_Mutation_p.A91T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	91					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A91T(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TAAGATCAACGCGGACCCGGT	0.587																																					p.A91T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G271A	6						.						59.0	52.0	54.0					6																	146350924		2203	4300	6503	146392617	SO:0001583	missense	2911	exon2			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.271G>A	6.37:g.146350924G>A	ENSP00000282753:p.Ala91Thr	Somatic		Capture	SOLID	Phase_I	146392617	NM_001114329	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110047	0.37242	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.57	4.62	0.57501	Extracellular ligand-binding receptor (1);	0.252741	0.41194	D	0.000923	T	0.39784	0.1091	L	0.46157	1.445	0.39079	D	0.960864	B;B;B;B	0.32128	0.214;0.357;0.254;0.214	B;B;B;B	0.31869	0.022;0.137;0.037;0.022	T	0.46190	-0.9209	10	0.44086	T	0.13	.	9.8213	0.40885	0.0755:0.0:0.7123:0.2122	.	91;91;86;91	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	T	91	ENSP00000354896:A91T;ENSP00000376119:A91T;ENSP00000424095:A91T;ENSP00000282753:A91T;ENSP00000347437:A91T;ENSP00000425599:A91T	ENSP00000282753:A91T	A	+	1	0	GRM1	146392617	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.231000	0.43009	2.619000	0.88677	0.561000	0.74099	GCG		0.587	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
RAB32	10981	hgsc.bcm.edu	37	6	146865171	146865171	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:146865171G>A	ENST00000367495.3	+	1	343	c.164G>A	c.(163-165)cGg>cAg	p.R55Q		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	55					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.R55Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		CAGCACTACCGGGCCACCATC	0.647																																					p.R55Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G164A	6						.						62.0	53.0	56.0					6																	146865171		2203	4300	6503	146906864	SO:0001583	missense	10981	exon1			U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.164G>A	6.37:g.146865171G>A	ENSP00000356465:p.Arg55Gln	Somatic		Capture	SOLID	Phase_I	146906864	NM_006834		Missense_Mutation	SNP	ENST00000367495.3	37	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242432	0.95272	.	.	ENSG00000118508	ENST00000367495	T	0.76316	-1.01	4.57	3.7	0.42460	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	N	0.04132	-0.27	0.80722	D	1	P	0.52842	0.956	P	0.49451	0.611	T	0.59553	-0.7433	10	0.37606	T	0.19	-5.7331	12.3279	0.55022	0.0828:0.0:0.9172:0.0	.	55	Q13637	RAB32_HUMAN	Q	55	ENSP00000356465:R55Q	ENSP00000356465:R55Q	R	+	2	0	RAB32	146906864	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.441000	0.97557	0.909000	0.36697	0.557000	0.71058	CGG		0.647	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834	
RAET1G	353091	hgsc.bcm.edu	37	6	150240411	150240411	+	Silent	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:150240411T>A	ENST00000367360.2	-	3	466	c.399A>T	c.(397-399)ggA>ggT	p.G133G	RAET1G_ENST00000479265.1_Silent_p.G133G|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G									p.G133G(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CACTGCCGTGTCCTTCGGCTT	0.532																																					p.G133G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A399T	6						.						155.0	146.0	149.0					6																	150240411		2203	4300	6503	150282104	SO:0001819	synonymous_variant	353091	exon3			AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.399A>T	6.37:g.150240411T>A		Somatic		Capture	SOLID	Phase_I	150282104	NM_001001788		Silent	SNP	ENST00000367360.2	37	CCDS43514.1																																																																																				0.532	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2		
JARID2	3720	hgsc.bcm.edu	37	6	15410531	15410531	+	Silent	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:15410531C>A	ENST00000341776.2	+	3	502	c.258C>A	c.(256-258)tcC>tcA	p.S86S	JARID2_ENST00000541660.1_Silent_p.S48S|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	86					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S86S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACGATGCATCCCAAGTGTCCT	0.458																																					p.S86S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C258A	6						.						219.0	180.0	193.0					6																	15410531		2203	4300	6503	15518510	SO:0001819	synonymous_variant	3720	exon3			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.258C>A	6.37:g.15410531C>A		Somatic		Capture	SOLID	Phase_I	15518510	NM_004973	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393319	0.25118	.	.	ENSG00000008083	ENST00000538175	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	T	0.72220	0.3433	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76517	-0.2930	7	0.87932	D	0	-11.1897	9.6573	0.39934	0.1475:0.6902:0.1623:0.0	.	7	B7Z7X9	.	H	7	.	ENSP00000443116:P7H	P	+	2	0	JARID2	15518510	0.979000	0.34478	1.000000	0.80357	0.998000	0.95712	-0.001000	0.12947	2.579000	0.87056	0.655000	0.94253	CCC		0.458	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973	
AKAP12	9590	hgsc.bcm.edu	37	6	151672535	151672535	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:151672535G>A	ENST00000253332.1	+	3	3198	c.3009G>A	c.(3007-3009)gtG>gtA	p.V1003V	AKAP12_ENST00000354675.6_Silent_p.V905V|AKAP12_ENST00000402676.2_Silent_p.V1003V|AKAP12_ENST00000359755.5_Silent_p.V898V			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1003					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.V1003V(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CAGAAATGGTGTCAGCAGTCT	0.562																																					p.V1003V	Melanoma(141;1616 1805 10049 24534 51979)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3009A	6						.						73.0	66.0	68.0					6																	151672535		2203	4300	6503	151714228	SO:0001819	synonymous_variant	9590	exon4			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3009G>A	6.37:g.151672535G>A		Somatic		Capture	SOLID	Phase_I	151714228	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																				0.562	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
TIAM2	26230	hgsc.bcm.edu	37	6	155458549	155458549	+	Missense_Mutation	SNP	C	C	T	rs369994726		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:155458549C>T	ENST00000461783.3	+	7	2706	c.1433C>T	c.(1432-1434)aCa>aTa	p.T478I	TIAM2_ENST00000318981.5_Missense_Mutation_p.T478I|TIAM2_ENST00000529824.2_Missense_Mutation_p.T478I|TIAM2_ENST00000456144.1_Missense_Mutation_p.T478I|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.T478I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	478					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AACATAGAAACATCTACAGAA	0.532																																					p.T478I												.	.	0			c.C1433T	6						.	C	ILE/THR	0,4406		0,0,2203	89.0	97.0	94.0		1433	5.2	0.1	6		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIAM2	NM_012454.3	89	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	478/1702	155458549	1,13005	2203	4300	6503	155500241	SO:0001583	missense	26230	exon4				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1433C>T	6.37:g.155458549C>T	ENSP00000437188:p.Thr478Ile	Somatic		Capture	SOLID	Phase_I	155500241	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	9.349	1.065042	0.20067	0.0	1.16E-4	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05580	3.53;3.42;3.48;3.53;3.54;3.48	6.08	5.21	0.72293	.	0.105395	0.64402	D	0.000005	T	0.07999	0.0200	M	0.70595	2.14	0.80722	D	1	P;P	0.43885	0.82;0.726	P;B	0.49085	0.6;0.395	T	0.01500	-1.1339	10	0.66056	D	0.02	.	10.4644	0.44598	0.1327:0.8008:0.0:0.0666	.	478;478	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	I	478;724;478;478;478;478;478	ENSP00000437188:T478I;ENSP00000434901:T478I;ENSP00000407746:T478I;ENSP00000327315:T478I;ENSP00000353528:T478I;ENSP00000433348:T478I	ENSP00000327315:T478I	T	+	2	0	TIAM2	155500241	0.549000	0.26481	0.089000	0.20774	0.002000	0.02628	1.256000	0.32921	1.602000	0.50124	-0.122000	0.15005	ACA		0.532	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
ARID1B	57492	hgsc.bcm.edu	37	6	157528595	157528595	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:157528595G>A	ENST00000350026.5	+	19	6282	c.6281G>A	c.(6280-6282)cGt>cAt	p.R2094H	ARID1B_ENST00000346085.5_Missense_Mutation_p.R2107H|ARID1B_ENST00000275248.4_Missense_Mutation_p.R2089H|ARID1B_ENST00000367148.1_Missense_Mutation_p.R2147H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2094					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R2089H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCATTTAGTCGTCAGGAGAAA	0.483																																					p.R2094H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6281A	6						.						184.0	194.0	191.0					6																	157528595		2203	4296	6499	157570287	SO:0001583	missense	57492	exon19			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6281G>A	6.37:g.157528595G>A	ENSP00000055163:p.Arg2094His	Somatic		Capture	SOLID	Phase_I	157570287	NM_017519	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885716	0.51908	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.26	5.26	0.73747	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.60209	0.2251	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.66064	-0.6016	10	0.87932	D	0	.	19.2386	0.93873	0.0:0.0:1.0:0.0	.	2094;2107;2089	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	2107;2094;2147;2089;1616	ENSP00000344546:R2107H;ENSP00000055163:R2094H;ENSP00000356116:R2147H;ENSP00000275248:R2089H;ENSP00000412835:R1616H	ENSP00000275248:R2089H	R	+	2	0	ARID1B	157570287	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.803000	0.99136	2.607000	0.88179	0.655000	0.94253	CGT		0.483	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
ZDHHC14	79683	hgsc.bcm.edu	37	6	158066788	158066788	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:158066788T>A	ENST00000359775.5	+	6	1661	c.772T>A	c.(772-774)Tgc>Agc	p.C258S	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.C258S|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	258					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GGCTGTGGTGTGCTTCTTCTC	0.552																																					p.C258S												.	.	0			c.T772A	6						.						182.0	133.0	150.0					6																	158066788		2203	4296	6499	157986776	SO:0001583	missense	79683	exon6			AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.772T>A	6.37:g.158066788T>A	ENSP00000352821:p.Cys258Ser	Somatic		Capture	SOLID	Phase_I	157986776	NM_153746	A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	CCDS5252.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.077056|4.077056	0.76415|0.76415	.|.	.|.	ENSG00000175048|ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483|ENST00000340347	T;T|.	0.20738|.	2.05;2.05|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.62901|.	0.2466|.	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;B|.	0.76494|.	0.999;0.328|.	D;B|.	0.75484|.	0.986;0.237|.	T|.	0.62923|.	-0.6751|.	10|.	0.59425|.	D|.	0.04|.	-24.3884|-24.3884	14.0934|14.0934	0.65004|0.65004	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	258;258|.	Q8IZN3;Q8IZN3-2|.	ZDH14_HUMAN;.|.	S|X	258;258;262|82	ENSP00000352821:C258S;ENSP00000410713:C258S|.	ENSP00000352821:C258S|.	C|C	+|+	1|3	0|2	ZDHHC14|ZDHHC14	157986776|157986776	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.271000|7.271000	0.78506|0.78506	2.445000|2.445000	0.82738|0.82738	0.561000|0.561000	0.74099|0.74099	TGC|TGT		0.552	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746	
MAP3K4	4216	hgsc.bcm.edu	37	6	161470264	161470264	+	Silent	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:161470264T>G	ENST00000392142.4	+	3	1108	c.960T>G	c.(958-960)acT>acG	p.T320T	MAP3K4_ENST00000366919.2_Silent_p.T320T|MAP3K4_ENST00000348824.7_Silent_p.T320T|MAP3K4_ENST00000366920.2_Silent_p.T320T	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	320					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTAATGGTACTTCAGTAGAAG	0.448																																					p.T320T												.	.	0			c.T960G	6						.						85.0	91.0	89.0					6																	161470264		2203	4300	6503	161390254	SO:0001819	synonymous_variant	4216	exon3			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.960T>G	6.37:g.161470264T>G		Somatic		Capture	SOLID	Phase_I	161390254	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	CCDS34565.1																																																																																				0.448	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
MAP3K4	4216	hgsc.bcm.edu	37	6	161470654	161470654	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:161470654A>G	ENST00000392142.4	+	3	1498	c.1350A>G	c.(1348-1350)gaA>gaG	p.E450E	MAP3K4_ENST00000366919.2_Silent_p.E450E|MAP3K4_ENST00000348824.7_Silent_p.E450E|MAP3K4_ENST00000366920.2_Silent_p.E450E	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	450					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CAGAAGGAGAATTAAAGGAGT	0.453																																					p.E450E												.	.	0			c.A1350G	6						.						84.0	82.0	83.0					6																	161470654		2203	4300	6503	161390644	SO:0001819	synonymous_variant	4216	exon3			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1350A>G	6.37:g.161470654A>G		Somatic		Capture	SOLID	Phase_I	161390644	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	CCDS34565.1																																																																																				0.453	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
KIAA0319	9856	hgsc.bcm.edu	37	6	24556865	24556865	+	Missense_Mutation	SNP	G	G	A	rs567670732		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:24556865G>A	ENST00000378214.3	-	18	3351	c.2827C>T	c.(2827-2829)Cgt>Tgt	p.R943C	KIAA0319_ENST00000543707.1_Missense_Mutation_p.R943C|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R943C|KIAA0319_ENST00000535378.1_Missense_Mutation_p.R934C|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R898C	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	943					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R943C(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAGATATAACGCTGTATAAGG	0.493																																					p.R943C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2827T	6						.						96.0	85.0	89.0					6																	24556865		2203	4300	6503	24664844	SO:0001583	missense	9856	exon18			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2827C>T	6.37:g.24556865G>A	ENSP00000367459:p.Arg943Cys	Somatic		Capture	SOLID	Phase_I	24664844	NM_001168377	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173723	0.57692	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.07567	3.18;3.2;3.2;3.2;3.2	4.02	3.14	0.36123	.	0.391742	0.26293	N	0.025201	T	0.12263	0.0298	M	0.63428	1.95	0.31540	N	0.660053	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.66196	0.916;0.942;0.877	T	0.01472	-1.1346	10	0.49607	T	0.09	-1.4766	12.1679	0.54141	0.0845:0.0:0.9155:0.0	.	943;934;943	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	C	943;934;898;943;943	ENSP00000439700:R943C;ENSP00000442403:R934C;ENSP00000401086:R898C;ENSP00000367459:R943C;ENSP00000437656:R943C	ENSP00000367459:R943C	R	-	1	0	KIAA0319	24664844	0.930000	0.31532	0.004000	0.12327	0.807000	0.45602	3.012000	0.49575	1.023000	0.39654	0.555000	0.69702	CGT		0.493	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	
TRIM38	10475	hgsc.bcm.edu	37	6	25966843	25966843	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:25966843T>A	ENST00000357085.3	+	3	569	c.93T>A	c.(91-93)tgT>tgA	p.C31*	TRIM38_ENST00000349458.3_Nonsense_Mutation_p.C31*	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	31					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GCATCAACTGTGGACACAGCT	0.507																																					p.C31X												.	.	0			c.T93A	6						.						95.0	92.0	93.0					6																	25966843		2203	4300	6503	26074822	SO:0001587	stop_gained	10475	exon3			U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.93T>A	6.37:g.25966843T>A	ENSP00000349596:p.Cys31*	Somatic		Capture	SOLID	Phase_I	26074822	NM_006355	B2R862	Nonsense_Mutation	SNP	ENST00000357085.3	37	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	t	37	6.184753	0.97357	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	.	.	.	4.37	0.554	0.17241	.	0.000000	0.48767	D	0.000173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3418	0.26641	0.0:0.3147:0.0:0.6853	.	.	.	.	X	31	.	ENSP00000230099:C31X	C	+	3	2	TRIM38	26074822	0.998000	0.40836	0.990000	0.47175	0.031000	0.12232	0.153000	0.16323	0.095000	0.17434	0.477000	0.44152	TGT		0.507	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2		
HIST1H1A	3024	hgsc.bcm.edu	37	6	26017939	26017939	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:26017939C>G	ENST00000244573.3	-	1	101	c.22G>C	c.(22-24)Gcc>Ccc	p.A8P	HIST1H3A_ENST00000357647.3_5'Flank	NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	8					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						GCGGCGGGGGCGGGAGGCACT	0.537											OREG0017237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A8P												.	.	0			c.G22C	6						.						31.0	34.0	33.0					6																	26017939		2182	4270	6452	26125918	SO:0001583	missense	3024	exon1			AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.22G>C	6.37:g.26017939C>G	ENSP00000244573:p.Ala8Pro	Somatic	783	Capture	SOLID	Phase_I	26125918	NM_005325	Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	c	13.18	2.160244	0.38119	.	.	ENSG00000124610	ENST00000244573	T	0.05025	3.51	4.2	1.23	0.21249	.	0.647008	0.13217	N	0.404684	T	0.01156	0.0038	N	0.08118	0	0.09310	N	0.999991	B	0.16396	0.017	B	0.16289	0.015	T	0.47182	-0.9137	10	0.56958	D	0.05	-0.43	9.8064	0.40795	0.0:0.5312:0.3904:0.0785	.	8	Q02539	H11_HUMAN	P	8	ENSP00000244573:A8P	ENSP00000244573:A8P	A	-	1	0	HIST1H1A	26125918	0.001000	0.12720	0.000000	0.03702	0.018000	0.09664	0.279000	0.18771	0.094000	0.17404	0.609000	0.83330	GCC		0.537	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325	
HIST1H3B	8358	hgsc.bcm.edu	37	6	26031976	26031976	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:26031976A>G	ENST00000244661.2	-	1	312	c.313T>C	c.(313-315)Ttt>Ctt	p.F105L		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	105					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)	p.F105L(1)		breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GTGTCCTCAAAGAGCCCTACC	0.547																																					p.F105L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T313C	6						.						76.0	77.0	77.0					6																	26031976		2203	4300	6503	26139955	SO:0001583	missense	8358	exon1			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.313T>C	6.37:g.26031976A>G	ENSP00000244661:p.Phe105Leu	Somatic		Capture	SOLID	Phase_I	26139955	NM_003537	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	a	16.57	3.161398	0.57368	.	.	ENSG00000124693	ENST00000244661	T	0.64803	-0.12	5.07	5.07	0.68467	.	.	.	.	.	T	0.67439	0.2893	.	.	.	0.43662	D	0.996081	.	.	.	.	.	.	T	0.72587	-0.4248	6	0.66056	D	0.02	.	14.2932	0.66295	1.0:0.0:0.0:0.0	.	.	.	.	L	105	ENSP00000244661:F105L	ENSP00000244661:F105L	F	-	1	0	HIST1H3B	26139955	1.000000	0.71417	0.977000	0.42913	0.722000	0.41435	8.940000	0.92958	2.013000	0.59113	0.459000	0.35465	TTT		0.547	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537	
GTF2H4	2968	hgsc.bcm.edu	37	6	30881718	30881718	+	Silent	SNP	C	C	T	rs535304084		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:30881718C>T	ENST00000259895.4	+	14	1570	c.1347C>T	c.(1345-1347)agC>agT	p.S449S	VARS2_ENST00000542001.1_5'Flank|GTF2H4_ENST00000376316.2_Silent_p.S449S|VARS2_ENST00000321897.5_5'Flank|VARS2_ENST00000541562.1_5'Flank|VARS2_ENST00000416670.2_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	449					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CCGGGCACAGCGACGTCAAGC	0.682								Nucleotide excision repair (NER)																													p.S449S												.	.	0			c.C1347T	6						.						20.0	21.0	21.0					6																	30881718		1508	2707	4215	30989697	SO:0001819	synonymous_variant	2968	exon14			Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.1347C>T	6.37:g.30881718C>T		Somatic		Capture	SOLID	Phase_I	30989697	NM_001517	B4DTJ5|Q76KU4	Silent	SNP	ENST00000259895.4	37	CCDS34386.1																																																																																				0.682	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517	
POU5F1	5460	hgsc.bcm.edu	37	6	31138167	31138167	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:31138167C>T	ENST00000259915.8	-	1	303	c.231G>A	c.(229-231)ggG>ggA	p.G77G	POU5F1_ENST00000441888.3_Intron	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	77					anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.G77G(1)	EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	CAACCTGGGGCCCACAGTACG	0.682			T	EWSR1	sarcoma																																p.G77G			Dom	yes		6	6p21.31	5460	"""POU domain, class 5, transcription factor 1"""		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G231A	6						.						28.0	28.0	28.0					6																	31138167		1510	2707	4217	31246146	SO:0001819	synonymous_variant	5460	exon1			Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"""Homeoboxes / POU class"""	9221	protein-coding gene	gene with protein product		164177	"""POU domain class 5, transcription factor 1"""	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.231G>A	6.37:g.31138167C>T		Somatic		Capture	SOLID	Phase_I	31246146	NM_002701	A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Silent	SNP	ENST00000259915.8	37	CCDS34391.1																																																																																				0.682	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076413.4	NM_002701	
HLA-DRA	3122	hgsc.bcm.edu	37	6	32411542	32411542	+	Missense_Mutation	SNP	C	C	T	rs58547911	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:32411542C>T	ENST00000374982.5	+	4	618	c.545C>T	c.(544-546)gCt>gTt	p.A182V	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.A207V			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	207	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.A207V(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GAGTTTGATGCTCCAAGCCCT	0.473									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																												p.A207V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C620T	6						.						188.0	206.0	199.0					6																	32411542		1511	2709	4220	32519520	SO:0001583	missense	3122	exon4	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.545C>T	6.37:g.32411542C>T	ENSP00000364121:p.Ala182Val	Somatic		Capture	SOLID	Phase_I	32519520	NM_019111	A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37		.	.	.	.	.	.	.	.	.	.	.	2.047	-0.418689	0.04766	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.01665	4.7;4.95	5.35	-0.229	0.13094	Immunoglobulin-like fold (1);	0.687721	0.14690	N	0.304186	T	0.00271	0.0008	N	0.12443	0.215	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.40534	-0.9558	10	0.08179	T	0.78	.	0.6341	0.00799	0.3766:0.2727:0.1438:0.2069	.	182;207	Q30118;P01903	.;DRA_HUMAN	V	207;182	ENSP00000378786:A207V;ENSP00000364121:A182V	ENSP00000364121:A182V	A	+	2	0	HLA-DRA	32519520	0.000000	0.05858	0.001000	0.08648	0.094000	0.18550	-0.292000	0.08332	0.052000	0.16007	0.567000	0.79289	GCT		0.473	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111	
RING1	6015	hgsc.bcm.edu	37	6	33177798	33177798	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:33177798G>C	ENST00000374656.4	+	4	554	c.346G>C	c.(346-348)Gaa>Caa	p.E116Q	RING1_ENST00000478431.1_3'UTR|MIR219-1_ENST00000362166.1_RNA	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	116	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						TAGCCGGGAGGAATACGAGGC	0.582																																					p.E116Q												.	.	0			c.G346C	6						.						72.0	63.0	66.0					6																	33177798		2203	4300	6503	33285776	SO:0001583	missense	6015	exon4				CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.346G>C	6.37:g.33177798G>C	ENSP00000363787:p.Glu116Gln	Somatic		Capture	SOLID	Phase_I	33285776	NM_002931	A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353525	0.61293	.	.	ENSG00000204227	ENST00000374656	D	0.85013	-1.93	4.23	3.33	0.38152	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.64402	D	0.000001	D	0.86920	0.6049	L	0.61218	1.895	0.48696	D	0.999691	D	0.76494	0.999	D	0.74023	0.982	D	0.87070	0.2159	10	0.52906	T	0.07	-18.0651	11.5403	0.50663	0.0:0.1829:0.8171:0.0	.	116	Q06587	RING1_HUMAN	Q	116	ENSP00000363787:E116Q	ENSP00000363787:E116Q	E	+	1	0	RING1	33285776	1.000000	0.71417	0.886000	0.34754	0.689000	0.40095	7.396000	0.79891	0.947000	0.37659	0.542000	0.68232	GAA		0.582	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2		
GRM4	2914	hgsc.bcm.edu	37	6	33990611	33990611	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:33990611T>A	ENST00000538487.2	-	11	3169	c.2726A>T	c.(2725-2727)aAc>aTc	p.N909I	GRM4_ENST00000609222.1_Missense_Mutation_p.N776I|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.N909I|GRM4_ENST00000544773.2_Missense_Mutation_p.N740I|GRM4_ENST00000374177.3_Missense_Mutation_p.N793I|GRM4_ENST00000455714.2_Missense_Mutation_p.N769I|GRM4_ENST00000535756.1_Missense_Mutation_p.N776I	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	909					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.N909I(2)|p.N793I(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GATTGCATGGTTGGTGTAAGT	0.602																																					p.N909I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A2726T	6						.						201.0	163.0	176.0					6																	33990611		2203	4300	6503	34098589	SO:0001583	missense	2914	exon10			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2726A>T	6.37:g.33990611T>A	ENSP00000440556:p.Asn909Ile	Somatic		Capture	SOLID	Phase_I	34098589	NM_000841	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.402497	0.83230	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D	0.89050	-2.39;-2.46;-2.19;-2.21;-2.39;-2.23	4.9	4.9	0.64082	.	0.674822	0.13291	N	0.398945	D	0.90628	0.7061	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D	0.76494	0.977;0.996;0.999;0.998;0.996	P;D;D;D;D	0.83275	0.905;0.954;0.996;0.991;0.954	D	0.90621	0.4559	10	0.87932	D	0	.	12.8908	0.58069	0.0:0.0:0.0:1.0	.	862;740;769;909;776	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	I	909;793;776;740;909;769	ENSP00000363296:N909I;ENSP00000363292:N793I;ENSP00000437925:N776I;ENSP00000437730:N740I;ENSP00000440556:N909I;ENSP00000398456:N769I	ENSP00000363292:N793I	N	-	2	0	GRM4	34098589	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.062000	0.76706	2.061000	0.61500	0.459000	0.35465	AAC		0.602	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2		
DNAH8	1769	hgsc.bcm.edu	37	6	38994322	38994322	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:38994322G>A	ENST00000359357.3	+	90	13318	c.13064G>A	c.(13063-13065)gGc>gAc	p.G4355D	DNAH8_ENST00000441566.1_Splice_Site_p.G4319D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4355					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G4355D(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTCTTTAAGGCTTCCTCACA	0.438																																					p.G4355D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G13064A	6						.						62.0	55.0	57.0					6																	38994322		2203	4300	6503	39102300	SO:0001630	splice_region_variant	1769	exon90			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.13064-1G>A	6.37:g.38994322G>A		Somatic		Capture	SOLID	Phase_I	39102300	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	35	5.418212	0.96092	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08896	3.04;3.04;3.04	6.17	6.17	0.99709	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54057	-0.8350	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	4355	Q96JB1	DYH8_HUMAN	D	4560;4355;4319	ENSP00000333363:G4560D;ENSP00000352312:G4355D;ENSP00000402294:G4319D	.	G	+	2	0	DNAH8	39102300	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.362000	0.79507	2.941000	0.99782	0.655000	0.94253	GGC		0.438	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Missense_Mutation
MOCS1	4337	hgsc.bcm.edu	37	6	39880020	39880020	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:39880020A>G	ENST00000340692.5	-	8	972	c.969T>C	c.(967-969)gaT>gaC	p.D323D	MOCS1_ENST00000308559.7_Silent_p.D323D|MOCS1_ENST00000373186.4_Silent_p.D323D|MOCS1_ENST00000373188.2_Silent_p.D323D|MOCS1_ENST00000373195.3_Silent_p.D236D|MOCS1_ENST00000432280.2_Silent_p.D294D|MOCS1_ENST00000373175.4_Silent_p.D294D|MOCS1_ENST00000425303.2_Silent_p.D323D			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	323	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.D323D(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGAGGTTCCCATCAGCTGTGA	0.562																																					p.D323D	NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T969C	6						.						131.0	119.0	123.0					6																	39880020		2203	4300	6503	39987998	SO:0001819	synonymous_variant	4337	exon8			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.969T>C	6.37:g.39880020A>G		Somatic		Capture	SOLID	Phase_I	39987998	NM_001075098	B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	ENST00000340692.5	37																																																																																					0.562	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943	
NFYA	4800	hgsc.bcm.edu	37	6	41062197	41062197	+	Silent	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:41062197A>T	ENST00000341376.6	+	9	1152	c.951A>T	c.(949-951)cgA>cgT	p.R317R	NFYA_ENST00000353205.5_Silent_p.R288R|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	317					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R317R(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGGTGGACGATTTTTCTCTC	0.393																																					p.R317R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A951T	6						.						112.0	108.0	109.0					6																	41062197		2203	4300	6503	41170175	SO:0001819	synonymous_variant	4800	exon9				CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.951A>T	6.37:g.41062197A>T		Somatic		Capture	SOLID	Phase_I	41170175	NM_002505	Q8IXU0	Silent	SNP	ENST00000341376.6	37	CCDS4849.1																																																																																				0.393	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1		
PTK7	5754	hgsc.bcm.edu	37	6	43109698	43109698	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:43109698C>G	ENST00000230419.4	+	12	2019	c.1798C>G	c.(1798-1800)Cgt>Ggt	p.R600G	PTK7_ENST00000349241.2_Missense_Mutation_p.R470G|PTK7_ENST00000352931.2_Missense_Mutation_p.R600G|PTK7_ENST00000481273.1_Missense_Mutation_p.R608G|PTK7_ENST00000345201.2_Missense_Mutation_p.R560G	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	600	Ig-like C2-type 7.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R600G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGAACCAGAGCGTACGACTGT	0.597																																					p.R560G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1678G	6						.						63.0	68.0	66.0					6																	43109698		2203	4300	6503	43217676	SO:0001583	missense	5754	exon11			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1798C>G	6.37:g.43109698C>G	ENSP00000230419:p.Arg600Gly	Somatic		Capture	SOLID	Phase_I	43217676	NM_152880	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	9.928	1.213955	0.22289	.	.	ENSG00000112655	ENST00000230419;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273	T;T;T;T;T	0.76709	-1.04;-1.04;1.61;-1.04;-1.04	4.96	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.166139	0.52532	D	0.000071	T	0.40719	0.1128	N	0.05230	-0.09	0.34985	D	0.754463	B;P;B;P;B	0.38565	0.011;0.637;0.247;0.637;0.291	B;B;B;B;B	0.37144	0.005;0.154;0.154;0.242;0.239	T	0.48714	-0.9011	10	0.28530	T	0.3	.	9.9171	0.41442	0.1552:0.6947:0.1501:0.0	.	608;470;560;600;600	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308	.;.;.;.;PTK7_HUMAN	G	600;470;600;560;608	ENSP00000230419:R600G;ENSP00000325462:R470G;ENSP00000326029:R600G;ENSP00000325992:R560G;ENSP00000418754:R608G	ENSP00000230418:R600G	R	+	1	0	PTK7	43217676	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	2.617000	0.46385	2.293000	0.77203	0.561000	0.74099	CGT		0.597	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2		
ABCC10	89845	hgsc.bcm.edu	37	6	43412880	43412880	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:43412880T>C	ENST00000372530.4	+	14	3073	c.2858T>C	c.(2857-2859)cTg>cCg	p.L953P	ABCC10_ENST00000244533.3_Missense_Mutation_p.L925P	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	953	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L925P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTGTTCCCACTGCCCAAAGCT	0.592																																					p.L953P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2858C	6						.						111.0	93.0	99.0					6																	43412880		2203	4300	6503	43520858	SO:0001583	missense	89845	exon14			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2858T>C	6.37:g.43412880T>C	ENSP00000361608:p.Leu953Pro	Somatic		Capture	SOLID	Phase_I	43520858	NM_001198934	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.482577	0.44147	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91631	-2.87;-2.88	5.08	3.87	0.44632	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.532351	0.16932	N	0.193622	D	0.83788	0.5330	L	0.38175	1.15	0.25300	N	0.989285	D;B	0.54397	0.966;0.437	P;B	0.50708	0.648;0.108	T	0.74899	-0.3507	10	0.25751	T	0.34	-8.717	8.071	0.30689	0.1136:0.0:0.2998:0.5866	.	925;953	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	P	953;925	ENSP00000361608:L953P;ENSP00000244533:L925P	ENSP00000244533:L925P	L	+	2	0	ABCC10	43520858	0.029000	0.19370	0.961000	0.40146	0.971000	0.66376	0.822000	0.27352	1.911000	0.55334	0.379000	0.24179	CTG		0.592	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	
MEP1A	4224	hgsc.bcm.edu	37	6	46793178	46793178	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:46793178C>T	ENST00000230588.4	+	8	735	c.726C>T	c.(724-726)cgC>cgT	p.R242R		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	242	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R242R(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCGGACAGCGCCTGGATTTCA	0.443																																					p.R242R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C726T	6						.						125.0	111.0	116.0					6																	46793178		2203	4300	6503	46901137	SO:0001819	synonymous_variant	4224	exon8				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.726C>T	6.37:g.46793178C>T		Somatic		Capture	SOLID	Phase_I	46901137	NM_005588	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	ENST00000230588.4	37	CCDS4918.1																																																																																				0.443	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588	
TFAP2D	83741	hgsc.bcm.edu	37	6	50682903	50682903	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:50682903C>T	ENST00000008391.3	+	2	342	c.114C>T	c.(112-114)gtC>gtT	p.V38V		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.V38V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ATTCCACTGTCGCCTATTCCT	0.552																																					p.V38V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C114T	6						.						194.0	152.0	166.0					6																	50682903		2203	4300	6503	50790862	SO:0001819	synonymous_variant	83741	exon2			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.114C>T	6.37:g.50682903C>T		Somatic		Capture	SOLID	Phase_I	50790862	NM_172238		Silent	SNP	ENST00000008391.3	37	CCDS4933.1																																																																																				0.552	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	
LRRC1	55227	hgsc.bcm.edu	37	6	53660105	53660105	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:53660105C>T	ENST00000370888.1	+	1	328	c.51C>T	c.(49-51)atC>atT	p.I17I	RP13-476E20.1_ENST00000429053.1_RNA|LRRC1_ENST00000370882.1_Silent_p.I17I	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	17						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.I17I(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TGGAGAGCATCGACAAGCGCC	0.701																																					p.I17I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C51T	6						.						45.0	39.0	41.0					6																	53660105		2203	4300	6503	53768064	SO:0001819	synonymous_variant	55227	exon1			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.51C>T	6.37:g.53660105C>T		Somatic		Capture	SOLID	Phase_I	53768064	NM_018214	Q5TGN3|Q9HAC0|Q9NVF1	Silent	SNP	ENST00000370888.1	37	CCDS4953.2																																																																																				0.701	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168	
EYS	346007	hgsc.bcm.edu	37	6	66200488	66200488	+	Splice_Site	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:66200488T>C	ENST00000370621.3	-	5	1387	c.861A>G	c.(859-861)tcA>tcG	p.S287S	EYS_ENST00000342421.5_Splice_Site_p.S287S|EYS_ENST00000393380.2_Splice_Site_p.S287S|EYS_ENST00000370616.2_Splice_Site_p.S287S|EYS_ENST00000503581.1_Splice_Site_p.S287S|EYS_ENST00000370618.3_Splice_Site_p.S287S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	287	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S287S(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTTTTTACCTGAAAATTGCT	0.279																																					p.S287S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A861G	6						.						59.0	54.0	55.0					6																	66200488		2203	4294	6497	66257209	SO:0001630	splice_region_variant	346007	exon4				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.862+1A>G	6.37:g.66200488T>C		Somatic		Capture	SOLID	Phase_I	66257209	NM_198283	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37																																																																																					0.279	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	Silent
FILIP1	27145	hgsc.bcm.edu	37	6	76063294	76063294	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:76063294C>A	ENST00000237172.7	-	4	920	c.590G>T	c.(589-591)aGc>aTc	p.S197I	FILIP1_ENST00000393004.2_Missense_Mutation_p.S197I|FILIP1_ENST00000370020.1_Missense_Mutation_p.S98I	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	197								p.S197I(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAAGTCGTCGCTCTTGTTCAT	0.537																																					p.S197I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G590T	6						.						249.0	223.0	232.0					6																	76063294		2203	4300	6503	76120014	SO:0001583	missense	27145	exon4			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.590G>T	6.37:g.76063294C>A	ENSP00000237172:p.Ser197Ile	Somatic		Capture	SOLID	Phase_I	76120014	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442191	0.96187	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.55760	0.5;0.5;0.5	5.79	5.79	0.91817	Cortactin-binding protein-2, N-terminal (1);	0.040085	0.85682	D	0.000000	T	0.71126	0.3303	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	T	0.69386	-0.5159	10	0.42905	T	0.14	-20.8174	20.0366	0.97561	0.0:1.0:0.0:0.0	.	197;197;197	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	I	197;197;98	ENSP00000376728:S197I;ENSP00000237172:S197I;ENSP00000359037:S98I	ENSP00000237172:S197I	S	-	2	0	FILIP1	76120014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	2.736000	0.93811	0.561000	0.74099	AGC		0.537	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
FAM46A	55603	hgsc.bcm.edu	37	6	82459822	82459822	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:82459822C>T	ENST00000320172.6	-	3	1233	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	FAM46A_ENST00000369756.3_Missense_Mutation_p.A388T|FAM46A_ENST00000369754.3_Missense_Mutation_p.A326T	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	307					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)	p.A307T(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TCATCAGAGGCGGGCCTAAAG	0.483																																					p.A307T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G919A	6						.						50.0	54.0	53.0					6																	82459822		2203	4300	6503	82516541	SO:0001583	missense	55603	exon3			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.919G>A	6.37:g.82459822C>T	ENSP00000318298:p.Ala307Thr	Somatic		Capture	SOLID	Phase_I	82516541	NM_017633	A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	ENST00000320172.6	37	CCDS34489.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533635	0.27387	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.24723	1.84;1.84;1.84	5.95	5.09	0.68999	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.12689	0.0308	L	0.45698	1.435	0.80722	D	1	B;B	0.27117	0.12;0.168	B;B	0.18871	0.023;0.02	T	0.02519	-1.1147	10	0.44086	T	0.13	-1.583	15.136	0.72566	0.0:0.9327:0.0:0.0673	.	307;326	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	T	326;307;388	ENSP00000358769:A326T;ENSP00000318298:A307T;ENSP00000358771:A388T	ENSP00000318298:A307T	A	-	1	0	FAM46A	82516541	1.000000	0.71417	0.913000	0.36048	0.004000	0.04260	7.487000	0.81328	1.535000	0.49220	-0.136000	0.14681	GCC		0.483	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1		
PRSS35	167681	hgsc.bcm.edu	37	6	84233665	84233665	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:84233665C>A	ENST00000369700.3	+	2	682	c.505C>A	c.(505-507)Cac>Aac	p.H169N	PRSS35_ENST00000536636.1_Missense_Mutation_p.H169N	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	169	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.H169N(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AACTGCTGCCCACTGTGTTCA	0.458																																					p.H169N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C505A	6						.						106.0	108.0	108.0					6																	84233665		2203	4300	6503	84290384	SO:0001583	missense	167681	exon3			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.505C>A	6.37:g.84233665C>A	ENSP00000358714:p.His169Asn	Somatic		Capture	SOLID	Phase_I	84290384	NM_001170423	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483608	0.63962	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.80480	-1.38;-1.38	5.78	5.78	0.91487	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.000000	0.85682	D	0.000000	D	0.92257	0.7544	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93121	0.6525	10	0.66056	D	0.02	-18.7093	19.9981	0.97395	0.0:1.0:0.0:0.0	.	169	Q8N3Z0	PRS35_HUMAN	N	169	ENSP00000440870:H169N;ENSP00000358714:H169N	ENSP00000358714:H169N	H	+	1	0	PRSS35	84290384	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	7.487000	0.81328	2.733000	0.93635	0.561000	0.74099	CAC		0.458	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362	
MDN1	23195	hgsc.bcm.edu	37	6	90504414	90504414	+	Missense_Mutation	SNP	G	G	A	rs183414490	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:90504414G>A	ENST00000369393.3	-	3	551	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	MDN1_ENST00000428876.1_Missense_Mutation_p.R146W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	146					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.R146W(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATTAGGTCCCGGAGCTTCATC	0.512													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18410	0.0		0.0	False		,,,				2504	0.0				p.R146W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C436T	6						.	G	TRP/ARG	6,4400	11.4+/-27.6	0,6,2197	126.0	104.0	111.0		436	4.3	1.0	6		111	0,8600		0,0,4300	yes	missense	MDN1	NM_014611.1	101	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging	146/5597	90504414	6,13000	2203	4300	6503	90561135	SO:0001583	missense	23195	exon3			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.436C>T	6.37:g.90504414G>A	ENSP00000358400:p.Arg146Trp	Somatic		Capture	SOLID	Phase_I	90561135	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	16.85	3.237217	0.58886	0.001362	0.0	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.31769	1.48;1.48;1.48	5.23	4.31	0.51392	.	0.000000	0.64402	D	0.000001	T	0.41903	0.1179	M	0.63428	1.95	0.50313	D	0.999866	D;P	0.89917	1.0;0.736	D;B	0.73380	0.98;0.265	T	0.10683	-1.0619	10	0.38643	T	0.18	.	14.45	0.67379	0.0:0.0:0.7579:0.2421	.	146;146	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	W	146	ENSP00000358400:R146W;ENSP00000413970:R146W;ENSP00000409664:R146W	ENSP00000358400:R146W	R	-	1	2	MDN1	90561135	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.693000	0.61753	2.614000	0.88457	0.557000	0.71058	CGG		0.512	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
FUT9	10690	hgsc.bcm.edu	37	6	96651633	96651633	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:96651633C>T	ENST00000302103.5	+	3	928	c.602C>T	c.(601-603)gCc>gTc	p.A201V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	201					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.A201V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CCTGAGCATGCCAGAGTCAAG	0.418																																					p.A201V	Melanoma(98;1369 1476 6592 22940 26587)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C602T	6						.						68.0	64.0	65.0					6																	96651633		2203	4300	6503	96758354	SO:0001583	missense	10690	exon3			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.602C>T	6.37:g.96651633C>T	ENSP00000302599:p.Ala201Val	Somatic		Capture	SOLID	Phase_I	96758354	NM_006581	Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651269	0.29336	.	.	ENSG00000172461	ENST00000302103	T	0.25250	1.81	5.6	5.6	0.85130	.	0.105469	0.64402	D	0.000004	T	0.13841	0.0335	L	0.35854	1.095	0.52099	D	0.99994	B	0.21381	0.055	B	0.25140	0.058	T	0.03433	-1.1037	10	0.30854	T	0.27	-10.5669	18.602	0.91250	0.0:1.0:0.0:0.0	.	201	Q9Y231	FUT9_HUMAN	V	201	ENSP00000302599:A201V	ENSP00000302599:A201V	A	+	2	0	FUT9	96758354	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	2.850000	0.48294	2.643000	0.89663	0.655000	0.94253	GCC		0.418	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581	
UFL1	23376	hgsc.bcm.edu	37	6	96985290	96985290	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:96985290A>G	ENST00000369278.4	+	9	909	c.843A>G	c.(841-843)gtA>gtG	p.V281V		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	281					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.V281V(1)									CAGATGCTGTAAGCTACATAA	0.353																																					p.V281V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A843G	6						.						134.0	135.0	134.0					6																	96985290		2203	4299	6502	97092011	SO:0001819	synonymous_variant	23376	exon9			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.843A>G	6.37:g.96985290A>G		Somatic		Capture	SOLID	Phase_I	97092011	NM_015323	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	CCDS5034.1																																																																																				0.353	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323	
KLHL32	114792	hgsc.bcm.edu	37	6	97423950	97423950	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:97423950A>G	ENST00000369261.4	+	3	464	c.101A>G	c.(100-102)cAg>cGg	p.Q34R	KLHL32_ENST00000536676.1_Missense_Mutation_p.Q34R|KLHL32_ENST00000539200.1_Missense_Mutation_p.Q34R|KLHL32_ENST00000544166.1_5'UTR	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	34								p.Q34R(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GCGCTGAATCAGCAGAGGAGT	0.502																																					p.Q34R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A101G	6						.						89.0	72.0	78.0					6																	97423950		2203	4300	6503	97530671	SO:0001583	missense	114792	exon3			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.101A>G	6.37:g.97423950A>G	ENSP00000358265:p.Gln34Arg	Somatic		Capture	SOLID	Phase_I	97530671	NM_052904	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.383022	0.61845	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.14	3.98	0.46160	BTB/POZ (1);BTB/POZ fold (2);	0.054132	0.85682	N	0.000000	T	0.54967	0.1891	N	0.25380	0.74	0.80722	D	1	B;P;B;P	0.50528	0.112;0.936;0.135;0.81	B;P;B;P	0.61201	0.086;0.885;0.061;0.69	T	0.55717	-0.8097	10	0.30854	T	0.27	.	10.7837	0.46393	0.9255:0.0:0.0745:0.0	.	34;34;34;34	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	R	34	ENSP00000358265:Q34R;ENSP00000440382:Q34R;ENSP00000441527:Q34R;ENSP00000358258:Q34R	ENSP00000358258:Q34R	Q	+	2	0	KLHL32	97530671	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.970000	0.76099	0.975000	0.38392	0.482000	0.46254	CAG		0.502	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904	
MMS22L	253714	hgsc.bcm.edu	37	6	97620964	97620964	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:97620964C>T	ENST00000275053.4	-	19	3079	c.2814G>A	c.(2812-2814)ggG>ggA	p.G938G	MMS22L_ENST00000369251.2_Silent_p.G898G	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	938					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.G938G(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCAGCTGCAGCCCTGCACTGA	0.363																																					p.G938G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2814A	6						.						72.0	69.0	70.0					6																	97620964		2203	4300	6503	97727685	SO:0001819	synonymous_variant	253714	exon19				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2814G>A	6.37:g.97620964C>T		Somatic		Capture	SOLID	Phase_I	97727685	NM_198468	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	ENST00000275053.4	37	CCDS5039.1																																																																																				0.363	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468	
FAXC	84553	hgsc.bcm.edu	37	6	99729265	99729265	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:99729265G>A	ENST00000389677.5	-	6	1287	c.1005C>T	c.(1003-1005)caC>caT	p.H335H	FAXC_ENST00000538471.1_Silent_p.H55H|FAXC_ENST00000461803.1_5'UTR	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	335						integral component of membrane (GO:0016021)		p.H335H(1)									CATCATCGTGGTGCCACTCTG	0.483																																					p.H335H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1005T	6						.						140.0	132.0	135.0					6																	99729265		2203	4300	6503	99835986	SO:0001819	synonymous_variant	84553	exon6			BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.1005C>T	6.37:g.99729265G>A		Somatic		Capture	SOLID	Phase_I	99835986	NM_032511	B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Silent	SNP	ENST00000389677.5	37	CCDS34500.1																																																																																				0.483	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511	
MAP3K4	4216	hgsc.bcm.edu	37	6	161470660	161470661	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	GG	GG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:161470660_161470661delGG	ENST00000392142.4	+	3	1504_1505	c.1356_1357delGG	c.(1354-1359)aaggagfs	p.E453fs	MAP3K4_ENST00000366919.2_Frame_Shift_Del_p.E453fs|MAP3K4_ENST00000348824.7_Frame_Shift_Del_p.E453fs|MAP3K4_ENST00000366920.2_Frame_Shift_Del_p.E453fs	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	453					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.E453fs*4(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAGAATTAAAGGAGTTGGAAAG	0.465																																					p.452_453del												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1356_1357del	6						.																																			161390651	SO:0001589	frameshift_variant	4216	exon3			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1356_1357delGG	6.37:g.161470660_161470661delGG	ENSP00000375986:p.Glu453fs	Somatic		Capture	SOLID	Phase_I	161390650	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Frame_Shift_Del	DEL	ENST00000392142.4	37	CCDS34565.1																																																																																				0.465	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
THBS2	7058	hgsc.bcm.edu	37	6	169648758	169648758	+	Silent	SNP	C	C	T	rs112534076		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr6:169648758C>T	ENST00000366787.3	-	4	612	c.363G>A	c.(361-363)gcG>gcA	p.A121A		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	121	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.A121A(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCAGCGTGTCCGCGGGGCCGT	0.657																																					p.A121A	Esophageal Squamous(91;219 1934 18562 44706)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G363A	6						.						87.0	78.0	81.0					6																	169648758		2203	4300	6503	169390683	SO:0001819	synonymous_variant	7058	exon4				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.363G>A	6.37:g.169648758C>T		Somatic		Capture	SOLID	Phase_I	169390683	NM_003247	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																				0.657	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
MYH8	4626	hgsc.bcm.edu	37	17	10296440	10296440	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:10296440G>A	ENST00000403437.2	-	36	5348	c.5254C>T	c.(5254-5256)Cgc>Tgc	p.R1752C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1752					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.R1752C(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTGCATTGCGTGATTCTTGG	0.388									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.R1752C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5254T	17						.						317.0	275.0	290.0					17																	10296440		2203	4300	6503	10237165	SO:0001583	missense	4626	exon36	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5254C>T	17.37:g.10296440G>A	ENSP00000384330:p.Arg1752Cys	Somatic		Capture	SOLID	Phase_I	10237165	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129514	0.77549	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79352	-1.26	5.21	5.21	0.72293	Myosin tail (1);	0.000000	0.39687	U	0.001293	D	0.90964	0.7159	H	0.96015	3.755	0.58432	D	0.999999	D	0.76494	0.999	D	0.67548	0.952	D	0.93126	0.6529	10	0.87932	D	0	.	13.8608	0.63559	0.0:0.0:0.8475:0.1525	.	1752	P13535	MYH8_HUMAN	C	1752	ENSP00000384330:R1752C	ENSP00000252173:R1752C	R	-	1	0	MYH8	10237165	0.999000	0.42202	0.988000	0.46212	0.991000	0.79684	3.290000	0.51755	2.712000	0.92718	0.585000	0.79938	CGC		0.388	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH1	4619	hgsc.bcm.edu	37	17	10398411	10398411	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:10398411A>G	ENST00000226207.5	-	37	5397	c.5303T>C	c.(5302-5304)aTg>aCg	p.M1768T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1768					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.M1768T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCAGCCATCATGGCAGCCTA	0.488																																					p.M1768T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5303C	17						.						169.0	163.0	165.0					17																	10398411		2203	4300	6503	10339136	SO:0001583	missense	4619	exon37				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5303T>C	17.37:g.10398411A>G	ENSP00000226207:p.Met1768Thr	Somatic		Capture	SOLID	Phase_I	10339136	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.066955	0.76301	.	.	ENSG00000109061	ENST00000226207	T	0.77358	-1.09	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.52532	U	0.000072	T	0.78824	0.4344	M	0.78637	2.42	0.58432	D	0.999996	B	0.18166	0.026	B	0.22152	0.038	T	0.75932	-0.3143	10	0.39692	T	0.17	.	15.4634	0.75377	1.0:0.0:0.0:0.0	.	1768	P12882	MYH1_HUMAN	T	1768	ENSP00000226207:M1768T	ENSP00000226207:M1768T	M	-	2	0	MYH1	10339136	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.428000	0.80296	2.114000	0.64651	0.459000	0.35465	ATG		0.488	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
SCARF1	8578	hgsc.bcm.edu	37	17	1551167	1551167	+	5'Flank	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:1551167C>T	ENST00000263071.4	-	0	0				SCARF1_ENST00000571272.1_5'Flank|SCARF1_ENST00000348987.3_5'Flank|RILP_ENST00000301336.6_Silent_p.K302K	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACATCTTGGCCTTGATCTTCT	0.602																																					p.K302K												.	.	0			c.G906A	17						.						214.0	146.0	169.0					17																	1551167		2203	4300	6503	1497917	SO:0001631	upstream_gene_variant	83547	exon6			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1551167C>T	Exception_encountered	Somatic		Capture	SOLID	Phase_I	1497917	NM_031430	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	ENST00000263071.4	37	CCDS11007.1																																																																																				0.602	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693	
TMEM220	388335	hgsc.bcm.edu	37	17	10628349	10628349	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:10628349A>T	ENST00000341871.3	-	4	730	c.266T>A	c.(265-267)aTc>aAc	p.I89N	TMEM220_ENST00000580186.1_5'UTR|TMEM220_ENST00000578345.1_Missense_Mutation_p.I79N|TMEM220_ENST00000455996.2_Missense_Mutation_p.I79N	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	89						integral component of membrane (GO:0016021)		p.I89N(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						CTCATGTAAGATGTTCTGTTG	0.463																																					p.I89N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T266A	17						.						203.0	181.0	188.0					17																	10628349		2203	4300	6503	10569074	SO:0001583	missense	388335	exon4				CCDS32567.1	17p13.1	2008-08-08			ENSG00000187824	ENSG00000187824			33757	protein-coding gene	gene with protein product							Standard	NM_001004313		Approved		uc002gmx.3	Q6QAJ8		ENST00000341871.3:c.266T>A	17.37:g.10628349A>T	ENSP00000339830:p.Ile89Asn	Somatic		Capture	SOLID	Phase_I	10569074	NM_001004313	A1YRJ4|B2RNE4|B4DJ52|B9EGW3	Missense_Mutation	SNP	ENST00000341871.3	37	CCDS32567.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.386576	0.25031	.	.	ENSG00000187824	ENST00000341871;ENST00000455996	.	.	.	5.94	5.94	0.96194	.	0.316289	0.27345	N	0.019791	T	0.77405	0.4125	M	0.74258	2.255	0.41542	D	0.988522	D;D	0.67145	0.996;0.993	D;P	0.65874	0.939;0.858	T	0.80538	-0.1338	9	0.87932	D	0	-23.7857	13.9308	0.63994	1.0:0.0:0.0:0.0	.	79;89	Q6QAJ8-2;Q6QAJ8	.;TM220_HUMAN	N	89;79	.	ENSP00000339830:I89N	I	-	2	0	TMEM220	10569074	1.000000	0.71417	0.548000	0.28192	0.401000	0.30781	5.931000	0.70113	2.275000	0.75901	0.528000	0.53228	ATC		0.463	TMEM220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440333.1	NM_001004313	
ZNF624	57547	hgsc.bcm.edu	37	17	16525876	16525876	+	Missense_Mutation	SNP	G	G	A	rs201088778		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:16525876G>A	ENST00000311331.7	-	6	2415	c.2324C>T	c.(2323-2325)aCt>aTt	p.T775I		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	775					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T775I(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTTTCTCCAGTGTGTGTTCT	0.448																																					p.T775I	NSCLC(186;1023 2134 13330 38202 39800)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2324T	17						.						82.0	86.0	85.0					17																	16525876		2203	4300	6503	16466601	SO:0001583	missense	57547	exon6			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.2324C>T	17.37:g.16525876G>A	ENSP00000310472:p.Thr775Ile	Somatic		Capture	SOLID	Phase_I	16466601	NM_020787	Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694459	0.48202	.	.	ENSG00000197566	ENST00000311331	T	0.25749	1.78	3.1	3.1	0.35709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48554	0.1506	M	0.80746	2.51	0.28395	N	0.918927	D	0.76494	0.999	D	0.71656	0.974	T	0.33497	-0.9866	9	0.72032	D	0.01	.	8.4152	0.32668	0.0:0.2416:0.7584:0.0	.	775	Q9P2J8	ZN624_HUMAN	I	775	ENSP00000310472:T775I	ENSP00000310472:T775I	T	-	2	0	ZNF624	16466601	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.116000	0.57871	2.053000	0.61076	0.655000	0.94253	ACT		0.448	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617	
SMG6	23293	hgsc.bcm.edu	37	17	2202208	2202208	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:2202208C>T	ENST00000263073.6	-	2	1889	c.1839G>A	c.(1837-1839)gcG>gcA	p.A613A	SMG6_ENST00000544865.1_Silent_p.A582A	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	613					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.A613A(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACCTGAGTTGCGCCATCTTCT	0.552																																					p.A582A	Melanoma(59;28 1088 11621 25887 46638 50814)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1746A	17						.						151.0	152.0	151.0					17																	2202208		2203	4300	6503	2148958	SO:0001819	synonymous_variant	23293	exon2			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1839G>A	17.37:g.2202208C>T		Somatic		Capture	SOLID	Phase_I	2148958	NM_001170957	B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	CCDS11016.1																																																																																				0.552	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3		
SRR	63826	hgsc.bcm.edu	37	17	2226989	2226989	+	Missense_Mutation	SNP	T	T	C	rs567278233		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:2226989T>C	ENST00000344595.5	+	8	1163	c.845T>C	c.(844-846)aTt>aCt	p.I282T	SRR_ENST00000576848.1_Missense_Mutation_p.I56T|TSR1_ENST00000301364.5_3'UTR	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	282					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)	p.I282T(1)		NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	AAACTACTCATTGAACCTACA	0.448													T|||	1	0.000199681	0.0	0.0014	5008	,	,		20914	0.0		0.0	False		,,,				2504	0.0				p.I282T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T845C	17						.						126.0	109.0	115.0					17																	2226989		2203	4300	6503	2173739	SO:0001583	missense	63826	exon8			AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.845T>C	17.37:g.2226989T>C	ENSP00000339435:p.Ile282Thr	Somatic		Capture	SOLID	Phase_I	2173739	NM_021947	D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	37	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.412515	0.42817	.	.	ENSG00000167720	ENST00000344595	D	0.96774	-4.12	5.52	5.52	0.82312	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.052617	0.85682	D	0.000000	D	0.96309	0.8796	L	0.42529	1.33	0.80722	D	1	B	0.28258	0.205	P	0.46510	0.519	D	0.95667	0.8720	10	0.66056	D	0.02	-26.9677	14.8376	0.70194	0.0:0.0:0.0:1.0	.	282	Q9GZT4	SRR_HUMAN	T	282	ENSP00000339435:I282T	ENSP00000339435:I282T	I	+	2	0	SRR	2173739	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.553000	0.53713	2.103000	0.63969	0.455000	0.32223	ATT		0.448	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947	
PEMT	10400	hgsc.bcm.edu	37	17	17425706	17425706	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:17425706C>T	ENST00000395783.1	-	3	276	c.97G>A	c.(97-99)Gca>Aca	p.A33T	PEMT_ENST00000395782.1_Missense_Mutation_p.A33T|PEMT_ENST00000435340.2_Missense_Mutation_p.A48T|PEMT_ENST00000395781.2_Missense_Mutation_p.A70T|PEMT_ENST00000255389.5_Missense_Mutation_p.A70T	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	33					cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)	p.A70T(1)		endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		TCCCATCGTGCAACCTAAACC	0.577																																					p.A70T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G208A	17						.						99.0	77.0	84.0					17																	17425706		2203	4300	6503	17366431	SO:0001583	missense	10400	exon3			AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.97G>A	17.37:g.17425706C>T	ENSP00000379129:p.Ala33Thr	Somatic		Capture	SOLID	Phase_I	17366431	NM_148172	A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Missense_Mutation	SNP	ENST00000395783.1	37	CCDS11187.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.371054	0.61624	.	.	ENSG00000133027	ENST00000255389;ENST00000395783;ENST00000395782;ENST00000435340;ENST00000395781;ENST00000421096	T;T;T;T;T	0.38560	1.69;1.76;1.76;1.14;1.13	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.70535	0.3235	M	0.92507	3.315	0.54753	D	0.99998	D;D;D	0.76494	0.998;0.999;0.998	D;D;P	0.70227	0.948;0.968;0.904	T	0.78635	-0.2127	10	0.87932	D	0	-11.0166	13.4867	0.61371	0.0:1.0:0.0:0.0	.	70;70;33	A8MZ66;Q9UBM1-2;Q9UBM1	.;.;PEMT_HUMAN	T	70;33;33;48;70;70	ENSP00000255389:A70T;ENSP00000379129:A33T;ENSP00000379128:A33T;ENSP00000391288:A48T;ENSP00000379127:A70T	ENSP00000255389:A70T	A	-	1	0	PEMT	17366431	0.997000	0.39634	0.942000	0.38095	0.227000	0.25037	3.832000	0.55783	2.235000	0.73313	0.561000	0.74099	GCA		0.577	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131657.1	NM_007169	
TNFAIP1	7126	hgsc.bcm.edu	37	17	26668321	26668321	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:26668321A>G	ENST00000226225.2	+	4	701	c.434A>G	c.(433-435)gAg>gGg	p.E145G	TNFAIP1_ENST00000544907.2_Missense_Mutation_p.E41G|TNFAIP1_ENST00000583213.1_3'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	145					apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)	p.E145G(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCCCTAAAGGAGGAGGAGCGG	0.587																																					p.E145G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A434G	17						.						120.0	107.0	111.0					17																	26668321		2203	4300	6503	23692448	SO:0001583	missense	7126	exon4				CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.434A>G	17.37:g.26668321A>G	ENSP00000226225:p.Glu145Gly	Somatic		Capture	SOLID	Phase_I	23692448	NM_021137	B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	ENST00000226225.2	37	CCDS11227.1	.	.	.	.	.	.	.	.	.	.	A	33	5.249593	0.95305	.	.	ENSG00000109079	ENST00000226225;ENST00000544907	T	0.57107	0.42	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	M	0.81497	2.545	0.80722	D	1	D	0.69078	0.997	D	0.64687	0.928	T	0.76274	-0.3019	10	0.62326	D	0.03	-31.2034	15.3	0.73940	1.0:0.0:0.0:0.0	.	145	Q13829	BACD2_HUMAN	G	145;41	ENSP00000226225:E145G	ENSP00000226225:E145G	E	+	2	0	TNFAIP1	23692448	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.298000	0.96132	2.208000	0.71279	0.459000	0.35465	GAG		0.587	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137	
PHF12	57649	hgsc.bcm.edu	37	17	27251028	27251028	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:27251028T>C	ENST00000332830.4	-	4	1424	c.614A>G	c.(613-615)cAg>cGg	p.Q205R	PHF12_ENST00000577226.1_Missense_Mutation_p.Q205R|RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.Q205R|RP11-20B24.5_ENST00000580782.1_RNA	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.Q205R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCGCCTCAGCTGGGGCTGCAC	0.557																																					p.Q205R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A614G	17						.						64.0	54.0	57.0					17																	27251028		2203	4300	6503	24275154	SO:0001583	missense	57649	exon4			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.614A>G	17.37:g.27251028T>C	ENSP00000329933:p.Gln205Arg	Somatic		Capture	SOLID	Phase_I	24275154	NM_001033561		Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625168	0.46840	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94184	-3.33;-3.37;-3.37	6.01	6.01	0.97437	.	0.113654	0.64402	D	0.000005	D	0.92254	0.7543	L	0.34521	1.04	0.51767	D	0.999936	D;D;D;D	0.59357	0.963;0.978;0.985;0.963	P;P;P;P	0.53861	0.549;0.736;0.643;0.549	D	0.90358	0.4371	10	0.20519	T	0.43	-17.9393	15.3307	0.74208	0.0:0.0:0.0:1.0	.	187;205;205;205	B4DFE2;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;PHF12_HUMAN	R	205	ENSP00000329933:Q205R;ENSP00000368157:Q205R;ENSP00000268756:Q205R	ENSP00000268756:Q205R	Q	-	2	0	PHF12	24275154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.832000	0.55783	2.298000	0.77334	0.528000	0.53228	CAG		0.557	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889	
TAOK1	57551	hgsc.bcm.edu	37	17	27861215	27861215	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:27861215C>T	ENST00000261716.3	+	19	2960	c.2441C>T	c.(2440-2442)gCg>gTg	p.A814V	TAOK1_ENST00000536202.1_Missense_Mutation_p.A666V	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	814					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.A814V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CTGTTGAATGCGTATCAGAGC	0.517																																					p.A814V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2441T	17						.						89.0	76.0	80.0					17																	27861215		2203	4300	6503	24885341	SO:0001583	missense	57551	exon19			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2441C>T	17.37:g.27861215C>T	ENSP00000261716:p.Ala814Val	Somatic		Capture	SOLID	Phase_I	24885341	NM_020791	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626781	0.96671	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.69435	-0.4;-0.4	5.5	5.5	0.81552	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	M	0.86420	2.815	0.33039	D	0.531233	D;D	0.89917	0.999;1.0	D;D	0.85130	0.939;0.997	D	0.88981	0.3408	10	0.87932	D	0	.	19.7544	0.96284	0.0:1.0:0.0:0.0	.	666;814	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	V	814;666	ENSP00000261716:A814V;ENSP00000438819:A666V	ENSP00000261716:A814V	A	+	2	0	TAOK1	24885341	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.740000	0.93945	0.650000	0.86243	GCG		0.517	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791	
OR1D2	4991	hgsc.bcm.edu	37	17	2995829	2995829	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:2995829G>T	ENST00000331459.1	-	1	461	c.462C>A	c.(460-462)ctC>ctA	p.L154L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	154					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L154L(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TGAGGCCATAGAGGACGGATA	0.512																																					p.L154L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C462A	17						.						87.0	89.0	88.0					17																	2995829		2203	4300	6503	2942579	SO:0001819	synonymous_variant	4991	exon1			U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.462C>A	17.37:g.2995829G>T		Somatic		Capture	SOLID	Phase_I	2942579	NM_002548	Q6IFL8|Q96RA4|Q9UM78	Silent	SNP	ENST00000331459.1	37	CCDS11019.1																																																																																				0.512	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548	
NF1	4763	hgsc.bcm.edu	37	17	29670143	29670143	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:29670143C>T	ENST00000358273.4	+	48	7562	c.7179C>T	c.(7177-7179)caC>caT	p.H2393H	NF1_ENST00000417592.2_Silent_p.H106H|NF1_ENST00000444181.2_Silent_p.H186H|NF1_ENST00000356175.3_Silent_p.H2372H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2393					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGTTGGACACCTTTTAAAAG	0.318			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.H2372H		yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	.	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.C7116T	17						.						76.0	75.0	75.0					17																	29670143		2203	4300	6503	26694269	SO:0001819	synonymous_variant	4763	exon47	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7179C>T	17.37:g.29670143C>T		Somatic		Capture	SOLID	Phase_I	26694269	NM_000267	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	CCDS42292.1																																																																																				0.318	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
LIG3	3980	hgsc.bcm.edu	37	17	33316603	33316603	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:33316603C>T	ENST00000378526.4	+	4	943	c.810C>T	c.(808-810)tgC>tgT	p.C270C	LIG3_ENST00000262327.5_Silent_p.C270C	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	270					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)	p.C270C(1)|p.C183C(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GAAAGTTATGCGCCATGGTGG	0.542								Other BER factors																													p.C270C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C810T	17						.						132.0	109.0	117.0					17																	33316603		2203	4300	6503	30340716	SO:0001819	synonymous_variant	3980	exon4				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.810C>T	17.37:g.33316603C>T		Somatic		Capture	SOLID	Phase_I	30340716	NM_013975	Q16714|Q6NVK3	Silent	SNP	ENST00000378526.4	37	CCDS11284.2																																																																																				0.542	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975	
HEATR9	256957	hgsc.bcm.edu	37	17	34190047	34190047	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:34190047C>T	ENST00000311880.2	-	8	856	c.708G>A	c.(706-708)acG>acA	p.T236T	C17orf66_ENST00000592980.1_Silent_p.T196T|C17orf66_ENST00000587585.1_5'Flank	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		236					hematopoietic progenitor cell differentiation (GO:0002244)			p.T236T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TTCGTAGCCCCGTCAAAGTCT	0.502																																					p.T236T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G708A	17						.						174.0	163.0	167.0					17																	34190047		2203	4300	6503	31214160	SO:0001819	synonymous_variant	256957	exon8																														ENST00000311880.2:c.708G>A	17.37:g.34190047C>T		Somatic		Capture	SOLID	Phase_I	31214160	NM_152781	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	CCDS11299.1																																																																																				0.502	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1		
TRPV3	162514	hgsc.bcm.edu	37	17	3448484	3448484	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:3448484G>T	ENST00000576742.1	-	3	522	c.201C>A	c.(199-201)ccC>ccA	p.P67P	TRPV3_ENST00000572519.1_Silent_p.P67P|TRPV3_ENST00000301365.4_Silent_p.P67P	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	67					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.P67P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TGGAATCCATGGGCTTGGAGA	0.597																																					p.P67P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C201A	17						.						111.0	97.0	102.0					17																	3448484		2203	4300	6503	3395234	SO:0001819	synonymous_variant	162514	exon3			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.201C>A	17.37:g.3448484G>T		Somatic		Capture	SOLID	Phase_I	3395234	NM_145068	Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	CCDS11029.1																																																																																				0.597	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068	
SYNRG	11276	hgsc.bcm.edu	37	17	35930982	35930982	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:35930982C>G	ENST00000339208.6	-	10	1241	c.1101G>C	c.(1099-1101)agG>agC	p.R367S	SYNRG_ENST00000585472.1_Missense_Mutation_p.R288S|SYNRG_ENST00000345615.4_Missense_Mutation_p.R289S|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000394378.2_Missense_Mutation_p.R289S|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000346661.4_Missense_Mutation_p.R367S|SYNRG_ENST00000502449.2_Missense_Mutation_p.R289S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	367	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.R367S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAGGAACGCCCCTCTACAAAT	0.438																																					p.R367S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1101C	17						.						93.0	100.0	98.0					17																	35930982		2203	4300	6503	33005095	SO:0001583	missense	11276	exon10			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1101G>C	17.37:g.35930982C>G	ENSP00000343610:p.Arg367Ser	Somatic		Capture	SOLID	Phase_I	33005095	NM_007247	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999469	0.54147	.	.	ENSG00000006114	ENST00000346661;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.39406	1.08;1.08;1.08	5.49	-2.42	0.06542	EPS15 homology (EH) (1);EF-hand-like domain (1);	0.045456	0.85682	D	0.000000	T	0.26304	0.0642	L	0.41710	1.295	0.50813	D	0.999896	B;B;B;P;B	0.36465	0.128;0.076;0.128;0.554;0.383	B;B;B;B;B	0.30495	0.019;0.019;0.019;0.116;0.116	T	0.07654	-1.0761	10	0.21014	T	0.42	-15.2357	12.948	0.58384	0.0:0.3628:0.0:0.6372	.	289;289;289;367;367	Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;SYNRG_HUMAN	S	367;367;289;289	ENSP00000005279:R367S;ENSP00000424893:R289S;ENSP00000377903:R289S	ENSP00000315722:R367S	R	-	3	2	SYNRG	33005095	0.936000	0.31750	0.987000	0.45799	0.963000	0.63663	-0.026000	0.12392	-0.419000	0.07439	0.555000	0.69702	AGG		0.438	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247	
WIPF2	147179	hgsc.bcm.edu	37	17	38421196	38421196	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:38421196C>T	ENST00000323571.4	+	5	1008	c.768C>T	c.(766-768)cgC>cgT	p.R256R	WIPF2_ENST00000583130.1_Silent_p.R256R|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Silent_p.R256R|WIPF2_ENST00000536600.1_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	256					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)		p.R256R(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CGCCTTACCGCCAGCCTCCTG	0.592										HNSCC(43;0.11)																											p.R256R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C768T	17						.						134.0	135.0	135.0					17																	38421196		2203	4300	6503	35674722	SO:0001819	synonymous_variant	147179	exon5			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.768C>T	17.37:g.38421196C>T		Somatic		Capture	SOLID	Phase_I	35674722	NM_133264	A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	ENST00000323571.4	37	CCDS11364.1																																																																																				0.592	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264	
KRT26	353288	hgsc.bcm.edu	37	17	38926091	38926091	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:38926091G>A	ENST00000335552.4	-	5	932	c.884C>T	c.(883-885)gCa>gTa	p.A295V		NM_181539.4	NP_853517.2			keratin 26									p.A295V(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TGCTGTGGCTGCTCCCTCATG	0.493																																					p.A295V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C884T	17						.						168.0	153.0	158.0					17																	38926091		2203	4300	6503	36179617	SO:0001583	missense	353288	exon5			AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.884C>T	17.37:g.38926091G>A	ENSP00000334798:p.Ala295Val	Somatic		Capture	SOLID	Phase_I	36179617	NM_181539		Missense_Mutation	SNP	ENST00000335552.4	37	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703846	0.48412	.	.	ENSG00000186393	ENST00000335552	T	0.77750	-1.12	5.24	5.24	0.73138	Filament (1);	0.106561	0.41938	D	0.000793	T	0.79009	0.4374	M	0.76938	2.355	0.09310	N	1	P	0.42757	0.789	B	0.43194	0.411	T	0.71731	-0.4504	10	0.14656	T	0.56	.	16.2125	0.82170	0.0:0.1329:0.8671:0.0	.	295	Q7Z3Y9	K1C26_HUMAN	V	295	ENSP00000334798:A295V	ENSP00000334798:A295V	A	-	2	0	KRT26	36179617	0.000000	0.05858	0.702000	0.30337	0.766000	0.43426	0.732000	0.26072	2.601000	0.87937	0.655000	0.94253	GCA		0.493	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539	
KRT28	162605	hgsc.bcm.edu	37	17	38954595	38954595	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:38954595G>A	ENST00000306658.7	-	3	647	c.582C>T	c.(580-582)aaC>aaT	p.N194N		NM_181535.3	NP_853513.2			keratin 28									p.N194N(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GCCGTAATCCGTTGATGTCGG	0.498																																					p.N194N	Melanoma(19;789 869 15380 26882 39836)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C582T	17						.						103.0	108.0	106.0					17																	38954595		2203	4300	6503	36208121	SO:0001819	synonymous_variant	162605	exon3			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.582C>T	17.37:g.38954595G>A		Somatic		Capture	SOLID	Phase_I	36208121	NM_181535		Silent	SNP	ENST00000306658.7	37	CCDS11376.1																																																																																				0.498	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535	
ATP6V0A1	535	hgsc.bcm.edu	37	17	40612949	40612949	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:40612949G>A	ENST00000343619.4	+	2	160	c.37G>A	c.(37-39)Gcc>Acc	p.A13T	ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.A13T|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.A13T|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.A13T|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.A13T|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.A13T	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	13					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.A13T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AATGACACTGGCCCAGCTTTT	0.473																																					p.A13T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G37A	17						.						177.0	178.0	178.0					17																	40612949		2203	4300	6503	37866475	SO:0001583	missense	535	exon2			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.37G>A	17.37:g.40612949G>A	ENSP00000342951:p.Ala13Thr	Somatic		Capture	SOLID	Phase_I	37866475	NM_001130021	B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	36	5.757698	0.96898	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.85955	-2.04;-2.04;-2.04;-2.05;-2.0	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.90328	0.6974	L	0.49640	1.575	0.80722	D	1	P;P;P;D;B;P	0.76494	0.83;0.901;0.458;0.999;0.165;0.593	B;P;B;D;B;P	0.81914	0.421;0.627;0.23;0.995;0.051;0.511	D	0.88450	0.3048	10	0.34782	T	0.22	-16.5849	19.4351	0.94788	0.0:0.0:1.0:0.0	.	13;13;13;13;13;13	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1;F5H569	.;.;.;VPP1_HUMAN;.;.	T	13	ENSP00000342951:A13T;ENSP00000444676:A13T;ENSP00000377415:A13T;ENSP00000264649:A13T;ENSP00000443991:A13T	ENSP00000264649:A13T	A	+	1	0	ATP6V0A1	37866475	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.674000	0.91012	0.561000	0.74099	GCC		0.473	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020	
ZZEF1	23140	hgsc.bcm.edu	37	17	3954155	3954155	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:3954155G>A	ENST00000381638.2	-	36	5907	c.5783C>T	c.(5782-5784)aCg>aTg	p.T1928M		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1928							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.T1928M(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACTGCTGCGCGTCTGGGGGTC	0.597																																					p.T1928M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5783T	17						.						64.0	59.0	61.0					17																	3954155		2203	4300	6503	3900904	SO:0001583	missense	23140	exon36			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5783C>T	17.37:g.3954155G>A	ENSP00000371051:p.Thr1928Met	Somatic		Capture	SOLID	Phase_I	3900904	NM_015113	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	7.757	0.704548	0.15172	.	.	ENSG00000074755	ENST00000381638	T	0.20881	2.04	5.66	-1.43	0.08884	.	0.616958	0.17746	N	0.163381	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	P;P	0.40376	0.715;0.592	B;B	0.37833	0.259;0.091	T	0.23868	-1.0176	10	0.41790	T	0.15	-0.3777	4.0199	0.09660	0.3054:0.0:0.3413:0.3533	.	1928;1928	O43149-2;O43149	.;ZZEF1_HUMAN	M	1928	ENSP00000371051:T1928M	ENSP00000371051:T1928M	T	-	2	0	ZZEF1	3900904	0.001000	0.12720	0.649000	0.29536	0.192000	0.23643	0.928000	0.28831	0.056000	0.16144	-0.140000	0.14226	ACG		0.597	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
DHX8	1659	hgsc.bcm.edu	37	17	41568583	41568583	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:41568583C>T	ENST00000262415.3	+	4	430	c.358C>T	c.(358-360)Cca>Tca	p.P120S	DHX8_ENST00000540306.1_Missense_Mutation_p.P120S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	120					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.P120S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGAACTCTTCCCAGTCCTTTG	0.353																																					p.P120S	NSCLC(56;1548 1661 49258 49987)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C358T	17						.						59.0	62.0	61.0					17																	41568583		2203	4300	6503	38924109	SO:0001583	missense	1659	exon4			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.358C>T	17.37:g.41568583C>T	ENSP00000262415:p.Pro120Ser	Somatic		Capture	SOLID	Phase_I	38924109	NM_004941		Missense_Mutation	SNP	ENST00000262415.3	37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.879062	0.72294	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.08282	3.11;3.11	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	M	0.64080	1.96	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.78314	0.991;0.979	T	0.00009	-1.2467	10	0.44086	T	0.13	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	120;120	F5H658;Q14562	.;DHX8_HUMAN	S	120	ENSP00000437886:P120S;ENSP00000262415:P120S	ENSP00000262415:P120S	P	+	1	0	DHX8	38924109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.566000	0.73978	2.941000	0.99782	0.655000	0.94253	CCA		0.353	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		
DUSP3	1845	hgsc.bcm.edu	37	17	41852157	41852157	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:41852157T>C	ENST00000226004.3	-	2	338	c.275A>G	c.(274-276)gAc>gGc	p.D92G	DUSP3_ENST00000397937.2_Missense_Mutation_p.D51G|DUSP3_ENST00000591618.1_5'Flank	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	92					in utero embryonic development (GO:0001701)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of JNK cascade (GO:0046329)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of mitotic cell cycle (GO:0045931)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D92G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		CTCCTGTGTGTCGTTGGCCTT	0.537																																					p.D92G	Esophageal Squamous(114;1511 1593 4801 6912 51717)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A275G	17						.						237.0	175.0	196.0					17																	41852157		2203	4300	6503	39207683	SO:0001583	missense	1845	exon2			BC035701	CCDS11469.1	17q21	2011-06-09	2008-02-04			ENSG00000108861		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3069	protein-coding gene	gene with protein product		600183	"""vaccinia virus phosphatase VH1-related"""	VHR		7829094	Standard	NM_004090		Approved		uc002ied.4	P51452		ENST00000226004.3:c.275A>G	17.37:g.41852157T>C	ENSP00000226004:p.Asp92Gly	Somatic		Capture	SOLID	Phase_I	39207683	NM_004090	D3DX45|Q5U0J1|Q8IYJ9	Missense_Mutation	SNP	ENST00000226004.3	37	CCDS11469.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885906	0.91814	.	.	ENSG00000108861	ENST00000226004;ENST00000397937	T;T	0.73363	-0.74;-0.74	5.29	5.29	0.74685	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.91036	0.7180	H	0.97291	3.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94087	0.7349	10	0.87932	D	0	-58.302	15.3818	0.74664	0.0:0.0:0.0:1.0	.	92;51;92	B5BUI8;Q8IYJ9;P51452	.;.;DUS3_HUMAN	G	92;51	ENSP00000226004:D92G;ENSP00000443014:D51G	ENSP00000226004:D92G	D	-	2	0	DUSP3	39207683	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	7.833000	0.86765	2.225000	0.72522	0.379000	0.24179	GAC		0.537	DUSP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453503.1	NM_004090	
FMNL1	752	hgsc.bcm.edu	37	17	43313575	43313575	+	Silent	SNP	C	C	T	rs374169714		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:43313575C>T	ENST00000331495.3	+	7	1023	c.687C>T	c.(685-687)gtC>gtT	p.V229V	FMNL1_ENST00000328118.3_Silent_p.V229V|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	229	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.V229V(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						ACGTCCACGTCTGTATTATGT	0.642											OREG0024477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V229V	GBM(164;1247 1997 8702 11086 51972)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C687T	17						.	C		0,4406		0,0,2203	74.0	69.0	71.0		687	-2.7	1.0	17		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FMNL1	NM_005892.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		229/1101	43313575	1,13005	2203	4300	6503	40669358	SO:0001819	synonymous_variant	752	exon7			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.687C>T	17.37:g.43313575C>T		Somatic	915	Capture	SOLID	Phase_I	40669358	NM_005892	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	CCDS11497.1																																																																																				0.642	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892	
ARHGAP27	201176	hgsc.bcm.edu	37	17	43482392	43482392	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:43482392A>G	ENST00000428638.1	-	3	1145	c.1146T>C	c.(1144-1146)ggT>ggC	p.G382G	ARHGAP27_ENST00000528384.1_Silent_p.G41G|ARHGAP27_ENST00000442348.1_Silent_p.G382G|ARHGAP27_ENST00000532891.2_Silent_p.G382G|ARHGAP27_ENST00000532038.1_Silent_p.G182G|ARHGAP27_ENST00000455881.1_Silent_p.G41G|ARHGAP27_ENST00000376922.2_Silent_p.G41G|ARHGAP27_ENST00000582826.1_5'Flank			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	382					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)	p.G41G(1)		endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GGCCGGGCTCACCGAAAGAGC	0.627																																					p.G41G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T123C	17						.						52.0	53.0	52.0					17																	43482392		2203	4300	6503	40838175	SO:0001819	synonymous_variant	201176	exon3			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1146T>C	17.37:g.43482392A>G		Somatic		Capture	SOLID	Phase_I	40838175	NM_199282	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Silent	SNP	ENST00000428638.1	37																																																																																					0.627	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282	
CALCOCO2	10241	hgsc.bcm.edu	37	17	46925707	46925707	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:46925707G>A	ENST00000258947.3	+	4	408	c.307G>A	c.(307-309)Gag>Aag	p.E103K	CALCOCO2_ENST00000448105.2_Missense_Mutation_p.E127K|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.E31K|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.E103K|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.E124K	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	103					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)	p.E103K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						CAAGGATGATGAGTATTACCA	0.393																																					p.E103K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G307A	17						.						160.0	134.0	143.0					17																	46925707		2203	4300	6503	44280706	SO:0001583	missense	10241	exon4			BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.307G>A	17.37:g.46925707G>A	ENSP00000258947:p.Glu103Lys	Somatic		Capture	SOLID	Phase_I	44280706	NM_005831	B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Missense_Mutation	SNP	ENST00000258947.3	37	CCDS11538.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507144	0.96386	.	.	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000509415;ENST00000513119;ENST00000416445;ENST00000508679;ENST00000505071;ENST00000502761	T;T;T;T;T;T;T;T;T	0.40756	2.86;2.86;2.86;1.02;1.29;2.86;1.4;2.86;2.86	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000007	T	0.71230	0.3315	M	0.86740	2.835	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.997	T	0.75741	-0.3211	10	0.72032	D	0.01	-13.6975	19.2551	0.93943	0.0:0.0:1.0:0.0	.	103;127;124;103	E7ETP5;B4DP36;E9PBE5;Q13137	.;.;.;CACO2_HUMAN	K	103;124;127;75;31;103;31;103;103	ENSP00000258947:E103K;ENSP00000424352:E124K;ENSP00000398523:E127K;ENSP00000425692:E75K;ENSP00000425090:E31K;ENSP00000406974:E103K;ENSP00000423437:E31K;ENSP00000422697:E103K;ENSP00000424889:E103K	ENSP00000258947:E103K	E	+	1	0	CALCOCO2	44280706	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.793000	0.85851	2.661000	0.90470	0.591000	0.81541	GAG		0.393	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831	
COL1A1	1277	hgsc.bcm.edu	37	17	48274560	48274560	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:48274560C>T	ENST00000225964.5	-	10	849	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	244	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.R244H(2)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	AGGAGGCCCACGCTCACCAGG	0.602			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																														p.R244H			Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.G731A	17						.						72.0	75.0	74.0					17																	48274560		2203	4300	6503	45629559	SO:0001583	missense	1277	exon10			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.731G>A	17.37:g.48274560C>T	ENSP00000225964:p.Arg244His	Somatic		Capture	SOLID	Phase_I	45629559	NM_000088	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199009	0.79015	.	.	ENSG00000108821	ENST00000225964	D	0.94000	-3.33	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.95984	0.8692	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96337	0.9248	10	0.66056	D	0.02	.	17.1427	0.86758	0.0:1.0:0.0:0.0	.	244	P02452	CO1A1_HUMAN	H	244	ENSP00000225964:R244H	ENSP00000225964:R244H	R	-	2	0	COL1A1	45629559	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.956000	0.70315	2.410000	0.81850	0.561000	0.74099	CGT		0.602	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
MRPL27	51264	hgsc.bcm.edu	37	17	48445498	48445498	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:48445498A>G	ENST00000225969.4	-	4	445	c.402T>C	c.(400-402)gtT>gtC	p.V134V	MRPL27_ENST00000442592.3_3'UTR|MRPL27_ENST00000507088.1_Silent_p.V79V|MRPL27_ENST00000511860.1_Silent_p.V79V|MRPL27_ENST00000503633.1_3'UTR	NM_016504.2	NP_057588.1	Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	134					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.V134V(1)		endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			GCTTGGCAGGAACCACGTGGA	0.557																																					p.V134V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T402C	17						.						151.0	113.0	126.0					17																	48445498		2203	4300	6503	45800497	SO:0001819	synonymous_variant	51264	exon4			AB049647	CCDS11564.1	17q21.3-q22	2012-09-13			ENSG00000108826	ENSG00000108826		"""Mitochondrial ribosomal proteins / large subunits"""	14483	protein-coding gene	gene with protein product		611837					Standard	NM_016504		Approved		uc002iqq.3	Q9P0M9	OTTHUMG00000162062	ENST00000225969.4:c.402T>C	17.37:g.48445498A>G		Somatic		Capture	SOLID	Phase_I	45800497	NM_016504	B2RE14	Silent	SNP	ENST00000225969.4	37	CCDS11564.1	.	.	.	.	.	.	.	.	.	.	A	9.051	0.992028	0.18966	.	.	ENSG00000108826	ENST00000508200	.	.	.	5.93	2.3	0.28687	.	.	.	.	.	T	0.46308	0.1386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28554	-1.0040	4	.	.	.	-27.9889	3.6854	0.08326	0.5261:0.1984:0.2756:0.0	.	.	.	.	P	122	.	.	S	-	1	0	MRPL27	45800497	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	1.619000	0.36965	0.468000	0.27243	0.533000	0.62120	TCC		0.557	MRPL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367057.1		
PSMB6	5694	hgsc.bcm.edu	37	17	4701656	4701656	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:4701656G>A	ENST00000270586.3	+	6	710	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)	p.R220Q(1)		endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						GGGGTAGAGCGGCAAGTACTT	0.532																																					p.R220Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G659A	17						.						130.0	122.0	125.0					17																	4701656		2203	4300	6503	4648614	SO:0001583	missense	5694	exon6			BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"""Proteasome (prosome, macropain) subunits"""	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.659G>A	17.37:g.4701656G>A	ENSP00000270586:p.Arg220Gln	Somatic		Capture	SOLID	Phase_I	4648614	NM_002798	Q96J55	Missense_Mutation	SNP	ENST00000270586.3	37	CCDS11056.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281310	0.95489	.	.	ENSG00000142507	ENST00000270586	T	0.35048	1.33	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.65863	0.2732	M	0.86097	2.795	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	T	0.70204	-0.4936	10	0.72032	D	0.01	-4.8164	17.3817	0.87406	0.0:0.0:1.0:0.0	.	220	P28072	PSB6_HUMAN	Q	220	ENSP00000270586:R220Q	ENSP00000270586:R220Q	R	+	2	0	PSMB6	4648614	0.997000	0.39634	1.000000	0.80357	0.830000	0.47004	4.991000	0.63883	2.693000	0.91896	0.655000	0.94253	CGG		0.532	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207559.2	NM_002798	
CHAD	1101	hgsc.bcm.edu	37	17	48545976	48545976	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:48545976C>T	ENST00000508540.1	-	1	351	c.199G>A	c.(199-201)Gct>Act	p.A67T	ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000504392.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.A67T	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	67					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)		p.A67T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GAATTGGCAGCCAGCACCGGG	0.622																																					p.A67T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199A	17						.						92.0	77.0	82.0					17																	48545976		2203	4300	6503	45900975	SO:0001583	missense	1101	exon1			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.199G>A	17.37:g.48545976C>T	ENSP00000423812:p.Ala67Thr	Somatic		Capture	SOLID	Phase_I	45900975	NM_001267	A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954926	0.73902	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.04360	3.64;3.64	4.31	4.31	0.51392	.	0.110694	0.64402	D	0.000007	T	0.03136	0.0092	N	0.11284	0.12	0.43091	D	0.99476	P	0.41748	0.761	B	0.37015	0.239	T	0.58808	-0.7571	10	0.45353	T	0.12	.	13.095	0.59187	0.0:0.7867:0.2133:0.0	.	67	O15335	CHAD_HUMAN	T	67	ENSP00000423812:A67T;ENSP00000258969:A67T	ENSP00000258969:A67T	A	-	1	0	CHAD	45900975	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.838000	0.48199	2.232000	0.73038	0.462000	0.41574	GCT		0.622	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267	
KIF2B	84643	hgsc.bcm.edu	37	17	51902131	51902131	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:51902131T>G	ENST00000268919.4	+	1	1893	c.1737T>G	c.(1735-1737)gaT>gaG	p.D579E		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	579					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D579E(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTCAGAGGGATGAATTTATTA	0.418																																					p.D579E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1737G	17						.						89.0	93.0	92.0					17																	51902131		2203	4300	6503	49257130	SO:0001583	missense	84643	exon1			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1737T>G	17.37:g.51902131T>G	ENSP00000268919:p.Asp579Glu	Somatic		Capture	SOLID	Phase_I	49257130	NM_032559	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	0.165	-1.077027	0.01903	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73152	-0.72	5.51	-5.84	0.02318	.	0.995387	0.08136	N	0.992313	T	0.41743	0.1172	N	0.24115	0.695	0.09310	N	1	B	0.14805	0.011	B	0.15484	0.013	T	0.42999	-0.9418	10	0.05833	T	0.94	.	1.2381	0.01957	0.1971:0.3202:0.2017:0.281	.	579	Q8N4N8	KIF2B_HUMAN	E	579;467	ENSP00000268919:D579E	ENSP00000268919:D579E	D	+	3	2	KIF2B	49257130	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.834000	0.01693	-1.196000	0.02676	-0.250000	0.11733	GAT		0.418	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
MSI2	124540	hgsc.bcm.edu	37	17	55693352	55693352	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:55693352C>T	ENST00000284073.2	+	9	768	c.559C>T	c.(559-561)Ccg>Tcg	p.P187S	MSI2_ENST00000322684.3_Missense_Mutation_p.P183S|MSI2_ENST00000442934.2_Missense_Mutation_p.P126S|RN7SL449P_ENST00000464937.2_RNA|MSI2_ENST00000416426.2_Missense_Mutation_p.P165S|MSI2_ENST00000579180.1_Missense_Mutation_p.P83S|MSI2_ENST00000579505.1_3'UTR	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	187	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.P183S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GAAAGCTCAGCCGAAAGAAGT	0.498			T	HOXA9	CML																																p.P183S			Dom	yes		17	17q23.2	124540	musashi homolog 2 (Drosophila)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C547T	17						.						122.0	114.0	117.0					17																	55693352		2203	4300	6503	53048351	SO:0001583	missense	124540	exon8			BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.559C>T	17.37:g.55693352C>T	ENSP00000284073:p.Pro187Ser	Somatic		Capture	SOLID	Phase_I	53048351	NM_170721	Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274715	0.80580	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684;ENST00000442934	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.49	4.52	0.55395	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.050164	0.85682	D	0.000000	D	0.89097	0.6618	M	0.82056	2.57	0.80722	D	1	B;P;D	0.89917	0.398;0.832;1.0	B;P;D	0.80764	0.081;0.538;0.994	D	0.89121	0.3503	10	0.44086	T	0.13	.	14.0199	0.64547	0.0:0.9269:0.0:0.0731	.	165;183;187	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	S	165;187;183;126	ENSP00000414671:P165S;ENSP00000284073:P187S;ENSP00000313616:P183S;ENSP00000392607:P126S	ENSP00000284073:P187S	P	+	1	0	MSI2	53048351	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	1.313000	0.45069	0.551000	0.68910	CCG		0.498	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1		
SRSF1	6426	hgsc.bcm.edu	37	17	56083246	56083246	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:56083246G>A	ENST00000258962.4	-	3	676	c.468C>T	c.(466-468)ggC>ggT	p.G156G	SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000582730.2_Silent_p.G156G|SRSF1_ENST00000584773.1_Silent_p.G156G|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000581497.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	156	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G156G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGACACCAGTGCCATCTCGGT	0.428																																					p.G156G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C468T	17						.						140.0	113.0	122.0					17																	56083246		2203	4300	6503	53438245	SO:0001819	synonymous_variant	6426	exon3				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.468C>T	17.37:g.56083246G>A		Somatic		Capture	SOLID	Phase_I	53438245	NM_001078166	B2R6Z7|D3DTZ3|Q13809	Silent	SNP	ENST00000258962.4	37	CCDS11600.1																																																																																				0.428	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924	
EPX	8288	hgsc.bcm.edu	37	17	56271342	56271342	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:56271342G>A	ENST00000225371.5	+	5	593	c.483G>A	c.(481-483)ggG>ggA	p.G161G		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	161					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.G161G(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CCTTGCTAGGGGCCTCCAACC	0.667																																					p.G161G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G483A	17						.						30.0	32.0	31.0					17																	56271342		2203	4300	6503	53626341	SO:0001819	synonymous_variant	8288	exon5			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.483G>A	17.37:g.56271342G>A		Somatic		Capture	SOLID	Phase_I	53626341	NM_000502	Q4TVP3	Silent	SNP	ENST00000225371.5	37	CCDS11602.1																																																																																				0.667	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502	
MTMR4	9110	hgsc.bcm.edu	37	17	56589798	56589798	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:56589798T>C	ENST00000323456.5	-	4	287	c.163A>G	c.(163-165)Atc>Gtc	p.I55V	MTMR4_ENST00000579925.1_Missense_Mutation_p.I55V	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	55					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.I55V(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAGTTAGAGATGGCAATGAGG	0.517																																					p.I55V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A163G	17						.						73.0	65.0	68.0					17																	56589798		2203	4300	6503	53944797	SO:0001583	missense	9110	exon4			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.163A>G	17.37:g.56589798T>C	ENSP00000325285:p.Ile55Val	Somatic		Capture	SOLID	Phase_I	53944797	NM_004687	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748919	0.49257	.	.	ENSG00000108389	ENST00000323456	D	0.82984	-1.67	5.51	5.51	0.81932	.	0.099980	0.64402	D	0.000002	D	0.82907	0.5139	L	0.59436	1.845	0.53005	D	0.999969	P	0.50710	0.938	P	0.47162	0.54	T	0.81839	-0.0748	10	0.30854	T	0.27	.	14.4478	0.67364	0.0:0.0:0.0:1.0	.	55	Q9NYA4	MTMR4_HUMAN	V	55	ENSP00000325285:I55V	ENSP00000325285:I55V	I	-	1	0	MTMR4	53944797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.550000	0.82173	2.098000	0.63641	0.459000	0.35465	ATC		0.517	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687	
RAD51C	5889	hgsc.bcm.edu	37	17	56809849	56809849	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:56809849G>A	ENST00000337432.4	+	8	1041	c.970G>A	c.(970-972)Gca>Aca	p.A324T	RAD51C_ENST00000583539.1_Missense_Mutation_p.A324T	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	324					blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.A324T(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGCAGGTTGGCAACATTGTA	0.318								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																												p.A324T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G970A	17						.						153.0	143.0	146.0					17																	56809849		2203	4300	6503	54164848	SO:0001583	missense	5889	exon8	Familial Cancer Database	BRCAX	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.970G>A	17.37:g.56809849G>A	ENSP00000336701:p.Ala324Thr	Somatic		Capture	SOLID	Phase_I	54164848	NM_058216	O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	CCDS11611.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.67|16.67	3.187292|3.187292	0.57909|0.57909	.|.	.|.	ENSG00000108384|ENSG00000108384	ENST00000337432|ENST00000413590	T|.	0.67171|.	-0.25|.	5.85|5.85	5.85|5.85	0.93711|0.93711	DNA recombination and repair protein Rad51, C-terminal (1);|.	0.151762|.	0.64402|.	D|.	0.000016|.	D|D	0.84206|0.84206	0.5421|0.5421	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.981|.	D;D|.	0.74348|.	0.983;0.94|.	D|D	0.86658|0.86658	0.1902|0.1902	10|5	0.72032|.	D|.	0.01|.	-11.3419|-11.3419	15.6664|15.6664	0.77234|0.77234	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	315;324|.	B4E0G0;O43502|.	.;RA51C_HUMAN|.	T|D	324|204	ENSP00000336701:A324T|.	ENSP00000336701:A324T|.	A|G	+|+	1|2	0|0	RAD51C|RAD51C	54164848|54164848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	5.362000|5.362000	0.66098|0.66098	2.773000|2.773000	0.95371|0.95371	0.585000|0.585000	0.79938|0.79938	GCA|GGC		0.318	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216	
DHX40	79665	hgsc.bcm.edu	37	17	57682898	57682898	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:57682898G>A	ENST00000251241.4	+	17	2210	c.2063G>A	c.(2062-2064)cGt>cAt	p.R688H	DHX40_ENST00000451169.2_Missense_Mutation_p.R640H|DHX40_ENST00000425628.3_Missense_Mutation_p.R611H	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	688							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.R688H(1)		endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGCCCAATCCGTTATGAATGG	0.408																																					p.R688H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2063A	17						.						128.0	114.0	119.0					17																	57682898		2203	4300	6503	55037680	SO:0001583	missense	79665	exon17			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.2063G>A	17.37:g.57682898G>A	ENSP00000251241:p.Arg688His	Somatic		Capture	SOLID	Phase_I	55037680	NM_024612	B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550386	0.86127	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.04015	4.1;3.73	5.92	4.96	0.65561	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	T	0.00542	-1.1680	10	0.87932	D	0	.	14.3703	0.66836	0.0705:0.0:0.9295:0.0	.	611;688	F5H625;Q8IX18	.;DHX40_HUMAN	H	688;611;688;640	ENSP00000251241:R688H;ENSP00000396039:R640H	ENSP00000251241:R688H	R	+	2	0	DHX40	55037680	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.368000	0.79567	1.526000	0.49068	-0.157000	0.13467	CGT		0.408	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612	
SMURF2	64750	hgsc.bcm.edu	37	17	62558998	62558998	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:62558998T>C	ENST00000262435.9	-	11	1290	c.1103A>G	c.(1102-1104)tAc>tGc	p.Y368C	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	368					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)	p.Y368C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GTCTCGCTTGTACCTTGGGAC	0.468																																					p.Y368C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1103G	17						.						122.0	100.0	107.0					17																	62558998		2203	4300	6503	59989460	SO:0001583	missense	64750	exon11			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.1103A>G	17.37:g.62558998T>C	ENSP00000262435:p.Tyr368Cys	Somatic		Capture	SOLID	Phase_I	59989460	NM_022739	Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.507967	0.44558	.	.	ENSG00000108854	ENST00000262435	T	0.49720	0.77	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78836	-0.2047	10	0.87932	D	0	.	16.1685	0.81786	0.0:0.0:0.0:1.0	.	368	Q9HAU4	SMUF2_HUMAN	C	368	ENSP00000262435:Y368C	ENSP00000262435:Y368C	Y	-	2	0	SMURF2	59989460	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.965000	0.87945	2.225000	0.72522	0.528000	0.53228	TAC		0.468	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739	
XAF1	54739	hgsc.bcm.edu	37	17	6661425	6661425	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:6661425C>A	ENST00000361842.3	+	2	289	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	XAF1_ENST00000346752.4_Missense_Mutation_p.S17Y|XAF1_ENST00000441631.1_Missense_Mutation_p.S17Y|XAF1_ENST00000576459.1_3'UTR|XAF1_ENST00000438512.1_Missense_Mutation_p.S17Y	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	17					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S17Y(1)		large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CATGTAGTCTCTGCCAACTTC	0.483																																					p.S17Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C50A	17						.						152.0	136.0	141.0					17																	6661425		2203	4300	6503	6602149	SO:0001583	missense	54739	exon2			X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.50C>A	17.37:g.6661425C>A	ENSP00000354822:p.Ser17Tyr	Somatic		Capture	SOLID	Phase_I	6602149	NM_199139	A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Missense_Mutation	SNP	ENST00000361842.3	37	CCDS11080.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259801	0.39995	.	.	ENSG00000132530	ENST00000361842;ENST00000441631;ENST00000346752;ENST00000438512	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.8	4.8	0.61643	.	0.302842	0.28268	N	0.015972	T	0.56514	0.1990	M	0.80616	2.505	0.34432	D	0.698642	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.98;0.992;0.997	T	0.69401	-0.5155	10	0.48119	T	0.1	-7.2298	13.7324	0.62797	0.0:1.0:0.0:0.0	.	17;17;17	C9J7Z8;Q6GPH4-2;Q6GPH4	.;.;XAF1_HUMAN	Y	17	ENSP00000354822:S17Y;ENSP00000413199:S17Y;ENSP00000341029:S17Y;ENSP00000406233:S17Y	ENSP00000341029:S17Y	S	+	2	0	XAF1	6602149	0.357000	0.24938	0.306000	0.25113	0.006000	0.05464	0.948000	0.29096	2.370000	0.80446	0.561000	0.74099	TCT		0.483	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523	
SLC16A13	201232	hgsc.bcm.edu	37	17	6941842	6941842	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:6941842G>A	ENST00000308027.6	+	3	1023	c.715G>A	c.(715-717)Gcc>Acc	p.A239T		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	239						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.A239T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCACCTGGTGGCCCATCTCCA	0.572																																					p.A239T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G715A	17						.						159.0	140.0	146.0					17																	6941842		2203	4300	6503	6882566	SO:0001583	missense	201232	exon3			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.715G>A	17.37:g.6941842G>A	ENSP00000309751:p.Ala239Thr	Somatic		Capture	SOLID	Phase_I	6882566	NM_201566	A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030528	0.93575	.	.	ENSG00000174327	ENST00000308027	T	0.55234	0.53	5.6	5.6	0.85130	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.102357	0.64402	D	0.000003	T	0.70072	0.3182	M	0.70787	2.145	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.65438	-0.6168	10	0.24483	T	0.36	.	17.1058	0.86663	0.0:0.0:1.0:0.0	.	239	Q7RTY0	MOT13_HUMAN	T	239	ENSP00000309751:A239T	ENSP00000309751:A239T	A	+	1	0	SLC16A13	6882566	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.072000	0.64389	2.632000	0.89209	0.563000	0.77884	GCC		0.572	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2		
BPTF	2186	hgsc.bcm.edu	37	17	65941553	65941553	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:65941553G>A	ENST00000321892.4	+	23	7168	c.7107G>A	c.(7105-7107)ctG>ctA	p.L2369L	BPTF_ENST00000424123.3_Silent_p.L2230L|BPTF_ENST00000335221.5_Silent_p.L2369L|BPTF_ENST00000306378.6_Silent_p.L2243L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2369					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L2369L(1)|p.L2243L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAGTAAACTGTCACCCCAGA	0.463																																					p.L2243L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G6729A	17						.						79.0	73.0	75.0					17																	65941553		2203	4300	6503	63372015	SO:0001819	synonymous_variant	2186	exon21			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7107G>A	17.37:g.65941553G>A		Somatic		Capture	SOLID	Phase_I	63372015	NM_182641	Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	G	1.095	-0.662717	0.03454	.	.	ENSG00000171634	ENST00000424123	.	.	.	5.46	0.361	0.16107	.	.	.	.	.	T	0.42471	0.1204	.	.	.	0.26259	N	0.978603	.	.	.	.	.	.	T	0.41520	-0.9504	5	0.72032	D	0.01	-0.1839	8.3872	0.32508	0.6265:0.0:0.3735:0.0	.	.	.	.	Y	41	.	ENSP00000388405:C41Y	C	+	2	0	BPTF	63372015	0.000000	0.05858	0.984000	0.44739	0.551000	0.35334	-0.510000	0.06328	0.066000	0.16515	-0.312000	0.09012	TGT		0.463	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
NAT9	26151	hgsc.bcm.edu	37	17	72769128	72769128	+	Missense_Mutation	SNP	C	C	T	rs79575243		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:72769128C>T	ENST00000357814.3	-	4	314	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	NAT9_ENST00000582870.1_Missense_Mutation_p.A85T|NAT9_ENST00000580301.1_Missense_Mutation_p.A80T|NAT9_ENST00000581136.1_Missense_Mutation_p.A81T|NAT9_ENST00000580632.1_Missense_Mutation_p.A80T|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000583757.1_Missense_Mutation_p.A80T|NAT9_ENST00000583476.1_Missense_Mutation_p.A81T|NAT9_ENST00000578822.1_Missense_Mutation_p.A86T|NAT9_ENST00000582524.1_Missense_Mutation_p.A81T	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	81	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)	p.A81T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						TCTTCGGTGGCGCCTGGCTGG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		16395	0.001		0.0	False		,,,				2504	0.0				p.A81T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G241A	17						.						66.0	53.0	57.0					17																	72769128		2203	4300	6503	70280723	SO:0001583	missense	26151	exon4			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.241G>A	17.37:g.72769128C>T	ENSP00000350467:p.Ala81Thr	Somatic		Capture	SOLID	Phase_I	70280723	NM_015654	B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	ENST00000357814.3	37	CCDS11706.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.60	1.395331	0.25205	.	.	ENSG00000109065	ENST00000357814	T	0.43688	0.94	5.19	-9.93	0.00452	Acyl-CoA N-acyltransferase (2);	0.935307	0.09128	N	0.844824	T	0.10337	0.0253	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.18745	-1.0327	10	0.14252	T	0.57	0.0413	4.064	0.09851	0.2444:0.4493:0.09:0.2163	.	80;81	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	T	81	ENSP00000350467:A81T	ENSP00000350467:A81T	A	-	1	0	NAT9	70280723	0.000000	0.05858	0.000000	0.03702	0.502000	0.33828	-1.207000	0.03008	-1.306000	0.02324	-1.202000	0.01658	GCC		0.557	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1	NM_015654	
TSEN54	283989	hgsc.bcm.edu	37	17	73517591	73517591	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:73517591G>A	ENST00000333213.6	+	7	659	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	208					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)		p.R208Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAGCCCTCGGTAACTCCCA	0.582																																					p.R208Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G623A	17						.						82.0	79.0	80.0					17																	73517591		2203	4300	6503	71029186	SO:0001630	splice_region_variant	283989	exon7			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.623+1G>A	17.37:g.73517591G>A		Somatic		Capture	SOLID	Phase_I	71029186	NM_207346	Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309198	0.23821	.	.	ENSG00000182173	ENST00000434205;ENST00000333213	T	0.56776	0.44	5.63	1.39	0.22231	.	1.318880	0.04522	N	0.384864	T	0.41789	0.1174	L	0.35723	1.085	0.33147	D	0.545145	B	0.15719	0.014	B	0.06405	0.002	T	0.37454	-0.9705	10	0.10377	T	0.69	-1.2329	9.6402	0.39835	0.2887:0.0:0.7113:0.0	.	208	Q7Z6J9	SEN54_HUMAN	Q	107;208	ENSP00000327487:R208Q	ENSP00000327487:R208Q	R	+	2	0	TSEN54	71029186	0.501000	0.26099	0.831000	0.32960	0.115000	0.19883	0.642000	0.24735	0.308000	0.22923	0.655000	0.94253	CGG		0.582	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346	Missense_Mutation
EXOC7	23265	hgsc.bcm.edu	37	17	74085381	74085381	+	Missense_Mutation	SNP	C	C	T	rs201743900		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:74085381C>T	ENST00000335146.7	-	9	1128	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	EXOC7_ENST00000607838.1_Missense_Mutation_p.V331M|EXOC7_ENST00000589210.1_Missense_Mutation_p.V308M|EXOC7_ENST00000411744.2_Missense_Mutation_p.V300M|EXOC7_ENST00000467929.2_Missense_Mutation_p.V267M|EXOC7_ENST00000405575.4_Missense_Mutation_p.V331M|EXOC7_ENST00000332065.5_Missense_Mutation_p.V277M			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	359					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)		p.V308M(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TCGGTCTCCACGTCCAGCATG	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17920	0.0		0.0	False		,,,				2504	0.0				p.V331M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G991A	17						.						103.0	87.0	93.0					17																	74085381		2203	4300	6503	71596976	SO:0001583	missense	23265	exon9			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.1075G>A	17.37:g.74085381C>T	ENSP00000334100:p.Val359Met	Somatic		Capture	SOLID	Phase_I	71596976	NM_001145299	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	CCDS45782.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.09	2.431194	0.43122	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	5.07	3.88	0.44766	Cullin repeat-like-containing domain (1);	0.287812	0.36778	N	0.002401	T	0.27454	0.0674	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B	0.18310	0.002;0.004;0.027;0.009;0.002;0.02;0.002	B;B;B;B;B;B;B	0.10450	0.002;0.001;0.004;0.004;0.001;0.005;0.002	T	0.12785	-1.0534	9	0.44086	T	0.13	-17.0476	5.0885	0.14696	0.0:0.6134:0.2212:0.1654	.	300;331;267;267;359;277;308	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	M	277;197;331;359;308;267;300	.	ENSP00000333806:V277M	V	-	1	0	EXOC7	71596976	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.983000	0.49345	2.347000	0.79759	0.460000	0.39030	GTG		0.642	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219	
RHBDF2	79651	hgsc.bcm.edu	37	17	74471179	74471179	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:74471179G>A	ENST00000313080.4	-	10	1520	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M	RHBDF2_ENST00000591885.1_Missense_Mutation_p.T387M|RHBDF2_ENST00000389760.4_Missense_Mutation_p.T387M	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	416					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.T416M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CACCAGCAGCGTGATGATGAC	0.622																																					p.T416M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1247T	17						.						93.0	66.0	75.0					17																	74471179		2202	4299	6501	71982774	SO:0001583	missense	79651	exon10			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.1247C>T	17.37:g.74471179G>A	ENSP00000322775:p.Thr416Met	Somatic		Capture	SOLID	Phase_I	71982774	NM_024599	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676691	0.47886	.	.	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	T;T	0.11604	2.76;2.76	5.1	3.11	0.35812	.	0.051498	0.85682	D	0.000000	T	0.08358	0.0208	N	0.26092	0.79	0.58432	D	0.999997	D;D;P;P	0.55800	0.967;0.973;0.908;0.723	B;B;B;B	0.43052	0.268;0.406;0.223;0.131	T	0.31024	-0.9958	10	0.33940	T	0.23	-6.9882	10.8119	0.46551	0.1535:0.0:0.8465:0.0	.	387;362;416;387	B7Z8H4;Q6ZWP8;Q6PJF5;Q6PJF5-2	.;.;RHDF2_HUMAN;.	M	416;387;362	ENSP00000322775:T416M;ENSP00000374410:T387M	ENSP00000322775:T416M	T	-	2	0	RHBDF2	71982774	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.708000	0.61859	1.157000	0.42530	0.462000	0.41574	ACG		0.622	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599	
DNAH2	146754	hgsc.bcm.edu	37	17	7699853	7699853	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:7699853G>A	ENST00000572933.1	+	50	9206	c.7746G>A	c.(7744-7746)aaG>aaA	p.K2582K	DNAH2_ENST00000389173.2_Silent_p.K2582K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2582	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K2582K(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAGAGGTGAAGCCCATTGGGA	0.537																																					p.K2582K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7746A	17						.						142.0	114.0	123.0					17																	7699853		2203	4300	6503	7640578	SO:0001819	synonymous_variant	146754	exon49			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7746G>A	17.37:g.7699853G>A		Somatic		Capture	SOLID	Phase_I	7640578	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																				0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	hgsc.bcm.edu	37	17	7702502	7702502	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:7702502C>T	ENST00000572933.1	+	56	10101	c.8641C>T	c.(8641-8643)Cgc>Tgc	p.R2881C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2881C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2881	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2881C(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTCATTGAACGCGTGCAGAA	0.582																																					p.R2881C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8641T	17						.						117.0	91.0	100.0					17																	7702502		2203	4300	6503	7643227	SO:0001583	missense	146754	exon55			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8641C>T	17.37:g.7702502C>T	ENSP00000458355:p.Arg2881Cys	Somatic		Capture	SOLID	Phase_I	7643227	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371705	0.82573	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.52526	0.66	5.48	5.48	0.80851	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81595	-0.0861	10	0.72032	D	0.01	.	18.1236	0.89579	0.0:1.0:0.0:0.0	.	2881	Q9P225	DYH2_HUMAN	C	2881	ENSP00000373825:R2881C	ENSP00000353818:R2881C	R	+	1	0	DNAH2	7643227	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	2.468000	0.45102	2.576000	0.86940	0.561000	0.74099	CGC		0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
USP36	57602	hgsc.bcm.edu	37	17	76831397	76831397	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:76831397G>A	ENST00000542802.3	-	4	883	c.440C>T	c.(439-441)gCc>gTc	p.A147V	USP36_ENST00000312010.6_Missense_Mutation_p.A147V|USP36_ENST00000590546.2_Missense_Mutation_p.A147V|USP36_ENST00000589424.1_Missense_Mutation_p.A147V			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	147	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.A147V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGGTAGTTGGCTAGAGGTGG	0.577																																					p.A147V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C440T	17						.						183.0	119.0	140.0					17																	76831397		2203	4300	6503	74342992	SO:0001583	missense	57602	exon4			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.440C>T	17.37:g.76831397G>A	ENSP00000441214:p.Ala147Val	Somatic		Capture	SOLID	Phase_I	74342992	NM_025090	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761485	0.89932	.	.	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.31510	1.49;1.49	5.31	5.31	0.75309	.	0.101320	0.64402	D	0.000002	T	0.42108	0.1188	L	0.28054	0.825	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.68039	0.955;0.944	T	0.16424	-1.0403	10	0.33940	T	0.23	-20.8691	17.7385	0.88401	0.0:0.0:1.0:0.0	.	147;147	Q8IXW9;Q9P275-2	.;.	V	147	ENSP00000310590:A147V;ENSP00000441214:A147V	ENSP00000310590:A147V	A	-	2	0	USP36	74342992	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	9.665000	0.98609	2.474000	0.83562	0.561000	0.74099	GCC		0.577	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090	
RPTOR	57521	hgsc.bcm.edu	37	17	78914375	78914375	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:78914375G>T	ENST00000306801.3	+	25	3361	c.2999G>T	c.(2998-3000)aGg>aTg	p.R1000M	RPTOR_ENST00000575542.1_3'UTR|CTD-2561B21.4_ENST00000576032.1_RNA|RPTOR_ENST00000544334.2_Missense_Mutation_p.R842M	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1000					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.R1000M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGTGTCAGGAGGCAGGCCCAG	0.632																																					p.R1000M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2999T	17						.						46.0	39.0	41.0					17																	78914375		2201	4299	6500	76528970	SO:0001583	missense	57521	exon25				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2999G>T	17.37:g.78914375G>T	ENSP00000307272:p.Arg1000Met	Somatic		Capture	SOLID	Phase_I	76528970	NM_020761	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	9.140	1.013562	0.19277	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.48522	0.83;0.81	4.8	-0.386	0.12466	.	0.465120	0.23095	N	0.051991	T	0.30572	0.0769	L	0.43923	1.385	0.80722	D	1	P;B	0.37276	0.589;0.053	B;B	0.27608	0.081;0.029	T	0.03130	-1.1069	10	0.40728	T	0.16	.	8.887	0.35409	0.6574:0.0:0.3426:0.0	.	842;1000	F5H7J5;Q8N122	.;RPTOR_HUMAN	M	1000;842	ENSP00000307272:R1000M;ENSP00000442479:R842M	ENSP00000307272:R1000M	R	+	2	0	RPTOR	76528970	0.998000	0.40836	0.047000	0.18901	0.236000	0.25371	0.622000	0.24433	-0.412000	0.07519	-0.367000	0.07326	AGG		0.632	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	
GPS2	2874	hgsc.bcm.edu	37	17	7217705	7217707	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	CTC	CTC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:7217705_7217707delCTC	ENST00000380728.2	-	4	520_522	c.220_222delGAG	c.(220-222)gagdel	p.E74del	GPS2_ENST00000391950.3_In_Frame_Del_p.E74del|NEURL4_ENST00000574120.1_5'Flank|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_In_Frame_Del_p.E74del			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	74					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)	p.E74*(1)|p.E74delE(1)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CCAAAAGCTTCTCCTCCAACTTC	0.473																																					p.74_74del												.	.	2	Substitution - Nonsense(1)|Deletion - In frame(1)	urinary_tract(1)|large_intestine(1)	c.220_222del	17						.			0,4262		0,0,2131						4.8	1.0			103	1,8251		0,1,4125	no	coding	GPS2	NM_004489.4		0,1,6256	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12513				7158431	SO:0001651	inframe_deletion	2874	exon4			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.220_222delGAG	17.37:g.7217708_7217710delCTC	ENSP00000370104:p.Glu74del	Somatic		Capture	SOLID	Phase_I	7158429	NM_004489	B4DXA1|Q6FHM8	In_Frame_Del	DEL	ENST00000380728.2	37	CCDS11100.1																																																																																				0.473	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489	
CHD3	1107	hgsc.bcm.edu	37	17	7810671	7810671	+	Splice_Site	SNP	G	G	A	rs551749460		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:7810671G>A	ENST00000330494.7	+	32	4939	c.4789G>A	c.(4789-4791)Gct>Act	p.A1597T	CHD3_ENST00000380358.4_Splice_Site_p.A1656T|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Splice_Site_p.A1597T	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1597	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A1597T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCTCTTCCAGGCTGATGCCCC	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		16828	0.0		0.0	False		,,,				2504	0.001				p.A1597T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4789A	17						.						43.0	48.0	46.0					17																	7810671		2203	4299	6502	7751396	SO:0001630	splice_region_variant	1107	exon32			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4789-1G>A	17.37:g.7810671G>A		Somatic		Capture	SOLID	Phase_I	7751396	NM_005852	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	2.187	-0.386157	0.04966	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90069	-2.61;-2.58;-2.55	4.66	-1.41	0.08941	.	0.905885	0.09217	N	0.832498	T	0.70962	0.3284	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.56613	-0.7950	9	.	.	.	0.0	2.1438	0.03782	0.2388:0.2518:0.3953:0.1142	.	173;1597;1597;1656	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	T	1656;1597;1597	ENSP00000369716:A1656T;ENSP00000350907:A1597T;ENSP00000332628:A1597T	.	A	+	1	0	CHD3	7751396	0.000000	0.05858	0.055000	0.19348	0.210000	0.24377	-0.360000	0.07622	0.012000	0.14892	0.561000	0.74099	GCT		0.652	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	Missense_Mutation
NTN1	9423	hgsc.bcm.edu	37	17	9066253	9066253	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:9066253A>G	ENST00000173229.2	+	3	1249	c.1142A>G	c.(1141-1143)cAt>cGt	p.H381R	NTN1_ENST00000538852.1_Missense_Mutation_p.H381R|NTN1_ENST00000546090.1_Missense_Mutation_p.H381R	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	381	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.H381R(1)	NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CGCCACTGCCATTACTGCAAG	0.662																																					p.H381R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1142G	17						.						32.0	25.0	28.0					17																	9066253		2203	4300	6503	9006978	SO:0001583	missense	9423	exon3			U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1142A>G	17.37:g.9066253A>G	ENSP00000173229:p.His381Arg	Somatic		Capture	SOLID	Phase_I	9006978	NM_004822	E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921767	0.73213	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090;ENST00000436734	T;T;T;T	0.61158	0.13;0.13;0.13;2.46	4.89	3.79	0.43588	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.80581	0.4650	M	0.93594	3.435	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.84132	0.0412	10	0.87932	D	0	.	12.1282	0.53928	0.8567:0.1433:0.0:0.0	.	381	O95631	NET1_HUMAN	R	381;381;381;1	ENSP00000173229:H381R;ENSP00000443259:H381R;ENSP00000441611:H381R;ENSP00000389375:H1R	ENSP00000173229:H381R	H	+	2	0	NTN1	9006978	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.848000	0.92172	0.808000	0.34231	0.528000	0.53228	CAT		0.662	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1		
GAS7	8522	hgsc.bcm.edu	37	17	9829971	9829971	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:9829971G>T	ENST00000432992.2	-	10	1161	c.1001C>A	c.(1000-1002)gCc>gAc	p.A334D	GAS7_ENST00000323816.4_Missense_Mutation_p.A274D|GAS7_ENST00000579158.1_Missense_Mutation_p.A270D|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000542249.1_Missense_Mutation_p.A270D|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000437099.2_Missense_Mutation_p.A270D|GAS7_ENST00000585266.1_Missense_Mutation_p.A274D|GAS7_ENST00000580865.1_Missense_Mutation_p.A194D	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	334					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CTCCACCGAGGCATAGCGGCT	0.602			T	MLL	AML*																																p.A194D			Dom	yes		17	17p	8522	growth arrest-specific 7		L	.	.	0			c.C581A	17						.						53.0	52.0	53.0					17																	9829971		2203	4300	6503	9770696	SO:0001583	missense	8522	exon6			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1001C>A	17.37:g.9829971G>T	ENSP00000407552:p.Ala334Asp	Somatic		Capture	SOLID	Phase_I	9770696	NM_003644	A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537051	0.45176	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T	0.44083	0.93	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.29524	0.0736	N	0.19112	0.55	0.80722	D	1	B;B;B;P	0.34462	0.156;0.309;0.185;0.454	B;B;B;B	0.28709	0.031;0.073;0.093;0.073	T	0.05115	-1.0905	9	.	.	.	-16.4615	19.1994	0.93704	0.0:0.0:1.0:0.0	.	286;274;194;334	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	D	334;274;273;194;274;148	ENSP00000379421:A274D	.	A	-	2	0	GAS7	9770696	1.000000	0.71417	0.564000	0.28396	0.956000	0.61745	6.381000	0.73163	2.837000	0.97791	0.655000	0.94253	GCC		0.602	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433	
GAS7	8522	hgsc.bcm.edu	37	17	9862537	9862537	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:9862537G>A	ENST00000432992.2	-	5	667	c.507C>T	c.(505-507)agC>agT	p.S169S	GAS7_ENST00000323816.4_Silent_p.S109S|GAS7_ENST00000579158.1_Silent_p.S105S|GAS7_ENST00000583882.1_Silent_p.S29S|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000542249.1_Silent_p.S105S|GAS7_ENST00000540214.1_Silent_p.S105S|GAS7_ENST00000396115.2_Silent_p.S105S|GAS7_ENST00000437099.2_Silent_p.S105S|GAS7_ENST00000585266.1_Silent_p.S109S|GAS7_ENST00000580865.1_Silent_p.S29S	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	169					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S169S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGTTTTCCTTGCTCTGCTTTT	0.557			T	MLL	AML*						OREG0024172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S29S			Dom	yes		17	17p	8522	growth arrest-specific 7		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C87T	17						.						163.0	122.0	136.0					17																	9862537		2203	4300	6503	9803262	SO:0001819	synonymous_variant	8522	exon1			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.507C>T	17.37:g.9862537G>A		Somatic	660	Capture	SOLID	Phase_I	9803262	NM_003644	A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	ENST00000432992.2	37	CCDS11152.1																																																																																				0.557	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433	
BRIP1	83990	hgsc.bcm.edu	37	17	59938899	59938900	+	Start_Codon_Del	DEL	AT	AT	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	AT	AT	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:59938899_59938900delAT	ENST00000259008.2	-	0	268_269				BRIP1_ENST00000577598.1_Start_Codon_Del	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1						DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CATTGAAGACATAGTGCTTTCC	0.351			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																													.		yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	.	.	1	Unknown(1)	large_intestine(1)	.	17						.																																			57293682	SO:0001582	initiator_codon_variant	83990	wholegene			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63			17.37:g.59938899_59938900delAT		Somatic		Capture	SOLID	Phase_I	57293681	NM_032043	Q3MJE2|Q8NCI5	Frame_Shift_Del	DEL	ENST00000259008.2	37	CCDS11631.1																																																																																				0.351	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	
PPP1R27	116729	hgsc.bcm.edu	37	17	79792431	79792431	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr17:79792431C>T	ENST00000330261.4	-	2	368	c.289G>A	c.(289-291)Ggc>Agc	p.G97S	FAM195B_ENST00000572645.1_5'Flank|FAM195B_ENST00000576431.1_5'Flank|FAM195B_ENST00000455127.2_5'Flank|FAM195B_ENST00000575061.1_5'Flank|FAM195B_ENST00000573478.1_5'Flank|PPP1R27_ENST00000573182.1_5'Flank|PPP1R27_ENST00000570394.1_Missense_Mutation_p.G97S|FAM195B_ENST00000538396.1_5'Flank	NM_001007533.3	NP_001007534.1	Q86WC6	PPR27_HUMAN	protein phosphatase 1, regulatory subunit 27	97					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.G97S(1)									GGTGTCCAGCCCGCCTCATCT	0.627																																					p.G97S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G289A	17						.						136.0	108.0	118.0					17																	79792431		2203	4300	6503	77385720	SO:0001583	missense	116729	exon2			AF434846	CCDS32767.1	17q25.3	2013-01-10	2011-10-11	2011-10-11	ENSG00000182676	ENSG00000182676		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	16813	protein-coding gene	gene with protein product			"""dysferlin-interacting protein 1 (toonin)"", ""dysferlin interacting protein 1 (toonin)"", ""dysferlin interacting protein 1"""	DYSFIP1			Standard	NM_001007533		Approved	toonin	uc002kbj.1	Q86WC6		ENST00000330261.4:c.289G>A	17.37:g.79792431C>T	ENSP00000331065:p.Gly97Ser	Somatic		Capture	SOLID	Phase_I	77385720	NM_001007533		Missense_Mutation	SNP	ENST00000330261.4	37	CCDS32767.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616702	0.87359	.	.	ENSG00000182676	ENST00000330261	T	0.53423	0.62	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.71863	0.3390	M	0.83118	2.625	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.76664	-0.2876	10	0.59425	D	0.04	.	17.581	0.87968	0.0:1.0:0.0:0.0	.	97	Q86WC6	PPR27_HUMAN	S	97	ENSP00000331065:G97S	ENSP00000331065:G97S	G	-	1	0	DYSFIP1	77385720	1.000000	0.71417	0.926000	0.36857	0.702000	0.40608	5.572000	0.67411	2.251000	0.74343	0.561000	0.74099	GGC		0.627	PPP1R27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439692.1	NM_001007533	
CLDN17	26285	hgsc.bcm.edu	37	21	31538298	31538298	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr21:31538298G>A	ENST00000286808.3	-	1	673	c.638C>T	c.(637-639)aCg>aTg	p.T213M		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	213					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.T213M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						AAGCATTGTCGTATTTCTTCG	0.443																																					p.T213M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C638T	21						.						251.0	240.0	244.0					21																	31538298		2203	4300	6503	30460169	SO:0001583	missense	26285	exon1			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.638C>T	21.37:g.31538298G>A	ENSP00000286808:p.Thr213Met	Somatic		Capture	SOLID	Phase_I	30460169	NM_012131	Q3MJB5|Q6UY37	Missense_Mutation	SNP	ENST00000286808.3	37	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	G	5.019	0.189120	0.09547	.	.	ENSG00000156282	ENST00000286808	T	0.60548	0.18	4.52	-9.05	0.00730	.	1.680310	0.02960	N	0.143057	T	0.33469	0.0864	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28650	-1.0037	10	0.44086	T	0.13	.	10.1202	0.42616	0.2524:0.2899:0.4577:0.0	.	213	P56750	CLD17_HUMAN	M	213	ENSP00000286808:T213M	ENSP00000286808:T213M	T	-	2	0	CLDN17	30460169	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.973000	0.03798	-1.989000	0.00979	-2.251000	0.00283	ACG		0.443	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131	
BRWD1	54014	hgsc.bcm.edu	37	21	40608707	40608707	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr21:40608707G>T	ENST00000333229.2	-	23	2907	c.2580C>A	c.(2578-2580)gaC>gaA	p.D860E	BRWD1_ENST00000342449.3_Missense_Mutation_p.D860E|BRWD1_ENST00000380800.3_Missense_Mutation_p.D860E	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	860					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TAGATGAAGAGTCACTAGAAA	0.408																																					p.D860E	Melanoma(170;988 1986 4794 16843 39731)											.	.	0			c.C2580A	21						.						84.0	81.0	82.0					21																	40608707		2203	4300	6503	39530577	SO:0001583	missense	54014	exon23			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2580C>A	21.37:g.40608707G>T	ENSP00000330753:p.Asp860Glu	Somatic		Capture	SOLID	Phase_I	39530577	NM_033656	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.02|15.02	2.709860|2.709860	0.48517|0.48517	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.55760|.	0.5;0.5;0.5|.	5.32|5.32	-1.68|-1.68	0.08212|0.08212	.|.	0.252937|.	0.34002|.	N|.	0.004354|.	T|T	0.63046|0.63046	0.2478|0.2478	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	B;B;B|.	0.15930|.	0.0;0.004;0.015|.	B;B;B|.	0.12156|.	0.001;0.006;0.007|.	T|T	0.61387|0.61387	-0.7073|-0.7073	10|5	0.46703|.	T|.	0.11|.	-2.4841|-2.4841	7.4802|7.4802	0.27400|0.27400	0.3351:0.0:0.5605:0.1045|0.3351:0.0:0.5605:0.1045	.|.	527;860;860|.	Q5R2U6;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	E|I	860|528	ENSP00000330753:D860E;ENSP00000344333:D860E;ENSP00000370178:D860E|.	ENSP00000330753:D860E|.	D|L	-|-	3|1	2|0	BRWD1|BRWD1	39530577|39530577	0.167000|0.167000	0.22975|0.22975	0.990000|0.990000	0.47175|0.47175	0.899000|0.899000	0.52679|0.52679	-0.503000|-0.503000	0.06383|0.06383	-0.231000|-0.231000	0.09825|0.09825	-0.143000|-0.143000	0.13931|0.13931	GAC|CTC		0.408	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
LCA5L	150082	hgsc.bcm.edu	37	21	40781958	40781958	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr21:40781958G>A	ENST00000358268.2	-	9	1757	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	LCA5L_ENST00000288350.3_Missense_Mutation_p.P410L|LCA5L_ENST00000380671.2_Missense_Mutation_p.P410L|LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Intron			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	410								p.P410L(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CACACAGTGAGGAATTTCATG	0.294																																					p.P410L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1229T	21						.						146.0	133.0	137.0					21																	40781958		2203	4299	6502	39703828	SO:0001583	missense	150082	exon9			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1229C>T	21.37:g.40781958G>A	ENSP00000351008:p.Pro410Leu	Somatic		Capture	SOLID	Phase_I	39703828	NM_152505	D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	G	0.714	-0.785968	0.02907	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	T;T;T	0.55234	0.53;0.53;0.53	4.51	1.65	0.23941	.	1.155400	0.06381	N	0.715195	T	0.45034	0.1322	L	0.56769	1.78	0.09310	N	1	P	0.38078	0.617	B	0.33196	0.159	T	0.26744	-1.0094	10	0.21014	T	0.42	-1.4412	8.03	0.30459	0.2851:0.0:0.7149:0.0	.	410	O95447	LCA5L_HUMAN	L	410	ENSP00000288350:P410L;ENSP00000370046:P410L;ENSP00000351008:P410L	ENSP00000288350:P410L	P	-	2	0	LCA5L	39703828	0.023000	0.18921	0.003000	0.11579	0.011000	0.07611	1.652000	0.37313	0.472000	0.27344	-0.142000	0.14014	CCT		0.294	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505	
RRP1B	23076	hgsc.bcm.edu	37	21	45106705	45106705	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr21:45106705A>G	ENST00000340648.4	+	12	1147	c.1030A>G	c.(1030-1032)Agt>Ggt	p.S344G		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	344					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)	p.S344G(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		ATCTCAACTCAGTTTTGCGGA	0.468																																					p.S344G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1030G	21						.						114.0	111.0	112.0					21																	45106705		2203	4300	6503	43931133	SO:0001583	missense	23076	exon12			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1030A>G	21.37:g.45106705A>G	ENSP00000339145:p.Ser344Gly	Somatic		Capture	SOLID	Phase_I	43931133	NM_015056	Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	A	3.980	-0.006695	0.07773	.	.	ENSG00000160208	ENST00000340648	T	0.01025	5.43	5.28	-1.38	0.09027	.	0.886170	0.10304	N	0.690787	T	0.01454	0.0047	M	0.71581	2.175	0.09310	N	1	B	0.14012	0.009	B	0.14578	0.011	T	0.37314	-0.9711	10	0.87932	D	0	0.4318	6.1389	0.20249	0.4334:0.1512:0.4153:0.0	.	344	Q14684	RRP1B_HUMAN	G	344	ENSP00000339145:S344G	ENSP00000339145:S344G	S	+	1	0	RRP1B	43931133	0.001000	0.12720	0.000000	0.03702	0.298000	0.27526	-0.074000	0.11450	-0.509000	0.06532	0.459000	0.35465	AGT		0.468	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056	
PWP2	5822	hgsc.bcm.edu	37	21	45542088	45542088	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr21:45542088C>T	ENST00000291576.7	+	14	1794	c.1667C>T	c.(1666-1668)gCg>gTg	p.A556V		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	556					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)	p.A556V(1)		cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CCTGATGGTGCGGAGCTGGCT	0.587																																					p.A556V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1667T	21						.						184.0	140.0	155.0					21																	45542088		2203	4300	6503	44366516	SO:0001583	missense	5822	exon14				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1667C>T	21.37:g.45542088C>T	ENSP00000291576:p.Ala556Val	Somatic		Capture	SOLID	Phase_I	44366516	NM_005049	B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121783	0.37436	.	.	ENSG00000241945	ENST00000291576	T	0.50277	0.75	5.17	1.06	0.20224	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.478540	0.23226	N	0.050507	T	0.19886	0.0478	N	0.04959	-0.14	0.09310	N	1	B	0.17268	0.021	B	0.08055	0.003	T	0.09314	-1.0680	10	0.46703	T	0.11	-6.3622	2.0829	0.03639	0.4563:0.2733:0.1141:0.1563	.	556	Q15269	PWP2_HUMAN	V	556	ENSP00000291576:A556V	ENSP00000291576:A556V	A	+	2	0	PWP2	44366516	0.909000	0.30893	0.004000	0.12327	0.978000	0.69477	2.360000	0.44151	0.227000	0.20999	0.591000	0.81541	GCG		0.587	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049	
TRPM2	7226	hgsc.bcm.edu	37	21	45786682	45786682	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr21:45786682C>A	ENST00000397928.1	+	4	914	c.469C>A	c.(469-471)Ctc>Atc	p.L157I	TRPM2_ENST00000300482.5_Missense_Mutation_p.L157I|TRPM2_ENST00000300481.9_Missense_Mutation_p.L157I|TRPM2_ENST00000397932.2_Missense_Mutation_p.L157I	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	157					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.L157I(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GATCTACCACCTCATGACCCA	0.602																																					p.L157I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C469A	21						.						72.0	65.0	67.0					21																	45786682		2203	4300	6503	44611110	SO:0001583	missense	7226	exon4			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.469C>A	21.37:g.45786682C>A	ENSP00000381023:p.Leu157Ile	Somatic		Capture	SOLID	Phase_I	44611110	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302021	0.60195	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	4.12	4.12	0.48240	.	0.000000	0.56097	U	0.000023	T	0.39226	0.1070	M	0.87547	2.89	0.48040	D	0.999577	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.51764	-0.8664	10	0.87932	D	0	-28.9218	16.7053	0.85370	0.0:1.0:0.0:0.0	.	157;157	E9PGK7;O94759	.;TRPM2_HUMAN	I	157	ENSP00000300482:L157I;ENSP00000381023:L157I;ENSP00000300481:L157I;ENSP00000381026:L157I	ENSP00000300481:L157I	L	+	1	0	TRPM2	44611110	0.944000	0.32072	0.946000	0.38457	0.441000	0.31987	1.878000	0.39608	1.995000	0.58328	0.297000	0.19635	CTC		0.602	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
TRPM2	7226	hgsc.bcm.edu	37	21	45855038	45855038	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr21:45855038G>A	ENST00000397928.1	+	28	4444	c.3999G>A	c.(3997-3999)ctG>ctA	p.L1333L	TRPM2_ENST00000300482.5_Silent_p.L1333L|TRPM2_ENST00000300481.9_Silent_p.L1279L|TRPM2_ENST00000498430.1_3'UTR|snoZ6_ENST00000581669.1_RNA|TRPM2_ENST00000397932.2_Silent_p.L1383L	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1333					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.L1333L(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCACAGGACTGCGTGGGCGCG	0.657																																					p.L1333L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3999A	21						.						89.0	83.0	85.0					21																	45855038		2203	4300	6503	44679466	SO:0001819	synonymous_variant	7226	exon28			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3999G>A	21.37:g.45855038G>A		Somatic		Capture	SOLID	Phase_I	44679466	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	CCDS13710.1																																																																																				0.657	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
PCNT	5116	hgsc.bcm.edu	37	21	47746419	47746419	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr21:47746419C>T	ENST00000359568.5	+	2	290	c.183C>T	c.(181-183)agC>agT	p.S61S	PCNT_ENST00000480896.1_3'UTR|C21orf58_ENST00000397680.1_5'Flank|C21orf58_ENST00000397682.3_5'Flank|C21orf58_ENST00000397685.4_5'Flank|C21orf58_ENST00000291691.7_5'Flank	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	61					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.S61S(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGAGGACAGCGCACTCTGTG	0.562																																					p.S61S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C183T	21						.						128.0	112.0	117.0					21																	47746419		2203	4300	6503	46570847	SO:0001819	synonymous_variant	5116	exon2			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.183C>T	21.37:g.47746419C>T		Somatic		Capture	SOLID	Phase_I	46570847	NM_006031	O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																				0.562	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
TSC2	7249	hgsc.bcm.edu	37	16	2104428	2104428	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:2104428G>A	ENST00000219476.3	+	5	1098	c.468G>A	c.(466-468)ttG>ttA	p.L156L	TSC2_ENST00000568454.1_Silent_p.L167L|TSC2_ENST00000382538.6_Silent_p.L107L|TSC2_ENST00000350773.4_Silent_p.L156L|TSC2_ENST00000353929.4_Silent_p.L156L|TSC2_ENST00000439673.2_Silent_p.L119L|TSC2_ENST00000401874.2_Silent_p.L156L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	156	Required for interaction with TSC1.				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)	p.L156L(2)		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)				TCACCTACTTGGAGGAAGAGC	0.542			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.L156L		yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G468A	16						.						85.0	84.0	85.0					16																	2104428		2198	4300	6498	2044429	SO:0001819	synonymous_variant	7249	exon5	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	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.468G>A	16.37:g.2104428G>A		Somatic		Capture	SOLID	Phase_I	2044429	NM_001114382	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	CCDS10458.1																																																																																				0.542	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	
MYH11	4629	hgsc.bcm.edu	37	16	15851685	15851685	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:15851685G>A	ENST00000300036.5	-	13	1683	c.1574C>T	c.(1573-1575)cCg>cTg	p.P525L	MYH11_ENST00000452625.2_Splice_Site_p.P532L|MYH11_ENST00000576790.2_Splice_Site_p.P525L|MYH11_ENST00000396324.3_Splice_Site_p.P532L	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	525	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.P525L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCCCTCACCGGTCGCTCGAT	0.627			T	CBFB	AML																																p.P532L			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1595T	16						.						89.0	74.0	79.0					16																	15851685		2197	4300	6497	15759186	SO:0001630	splice_region_variant	4629	exon14			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1575+1C>T	16.37:g.15851685G>A		Somatic		Capture	SOLID	Phase_I	15759186	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926964	0.92319	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	4.9	4.9	0.64082	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.87740	0.6253	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.996	D;D;D;D;D;D	0.75484	0.986;0.981;0.981;0.981;0.968;0.968	D	0.91045	0.4874	10	0.87932	D	0	.	17.093	0.86627	0.0:0.0:1.0:0.0	.	532;525;525;532;525;532	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	L	525;525;532;532;532	ENSP00000300036:P525L;ENSP00000345136:P525L;ENSP00000379616:P532L;ENSP00000407821:P532L	ENSP00000300036:P525L	P	-	2	0	MYH11	15759186	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.776000	0.99001	2.260000	0.74910	0.455000	0.32223	CCG		0.627	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	Missense_Mutation
ZP2	7783	hgsc.bcm.edu	37	16	21218204	21218204	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:21218204G>T	ENST00000574002.1	-	6	920	c.438C>A	c.(436-438)acC>acA	p.T146T	ZP2_ENST00000219593.4_Silent_p.T146T|ZP2_ENST00000574091.1_Silent_p.T146T|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	146					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)	p.T146T(1)		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)		AAAGCCCCTGGGTCTCTTCTA	0.493																																					p.T146T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C438A	16						.						179.0	165.0	170.0					16																	21218204		2199	4300	6499	21125705	SO:0001819	synonymous_variant	7783	exon5			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.438C>A	16.37:g.21218204G>T		Somatic		Capture	SOLID	Phase_I	21125705	NM_003460	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	CCDS10596.1																																																																																				0.493	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2		
SULT1A2	6799	hgsc.bcm.edu	37	16	28603721	28603721	+	Missense_Mutation	SNP	C	C	T	rs141581853	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:28603721C>T	ENST00000395630.1	-	7	988	c.638G>A	c.(637-639)cGc>cAc	p.R213H	SULT1A2_ENST00000533150.1_Missense_Mutation_p.R180H|SULT1A2_ENST00000335715.4_Missense_Mutation_p.R213H	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	213					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)	p.R213H(4)		NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TGGCAGGGAGCGCCCCACAAA	0.532													.|||	134	0.0267572	0.0363	0.0677	5008	,	,		20273	0.005		0.0268	False		,,,				2504	0.0072				p.R213H												.	.	4	Substitution - Missense(4)	skin(2)|large_intestine(1)|NS(1)	c.G638A	16						.						132.0	119.0	123.0					16																	28603721		2197	4300	6497	28511222	SO:0001583	missense	6799	exon7			U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.638G>A	16.37:g.28603721C>T	ENSP00000378992:p.Arg213His	Somatic		Capture	SOLID	Phase_I	28511222	NM_001054	A9QY25|P78393|Q14CJ7	Missense_Mutation	SNP	ENST00000395630.1	37	CCDS10636.1	.	.	.	.	.	.	.	.	.	.	c	15.21	2.765812	0.49574	.	.	ENSG00000197165	ENST00000533150;ENST00000335715;ENST00000395630	D;D;D	0.82526	-1.62;-1.62;-1.62	4.98	3.0	0.34707	Sulfotransferase domain (1);	0.265029	0.30329	N	0.009878	T	0.81307	0.4795	M	0.85462	2.755	0.22081	N	0.999373	B	0.12013	0.005	B	0.06405	0.002	T	0.73867	-0.3847	10	0.62326	D	0.03	.	6.5172	0.22254	0.0:0.7359:0.0:0.2641	.	213	P50226	ST1A2_HUMAN	H	180;213;213	ENSP00000435271:R180H;ENSP00000338742:R213H;ENSP00000378992:R213H	ENSP00000338742:R213H	R	-	2	0	SULT1A2	28511222	0.000000	0.05858	1.000000	0.80357	0.908000	0.53690	-0.149000	0.10204	2.300000	0.77407	0.456000	0.33151	CGC		0.532	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054	
ADCY9	115	hgsc.bcm.edu	37	16	4043428	4043428	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:4043428G>A	ENST00000294016.3	-	4	2506	c.1968C>T	c.(1966-1968)gaC>gaT	p.D656D	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	656					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.D656D(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTTTATGCTCGTCTTGGCAGC	0.532																																					p.D656D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1968T	16						.						229.0	199.0	209.0					16																	4043428		2197	4300	6497	3983429	SO:0001819	synonymous_variant	115	exon4			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1968C>T	16.37:g.4043428G>A		Somatic		Capture	SOLID	Phase_I	3983429	NM_001116	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																				0.532	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
C16orf71	146562	hgsc.bcm.edu	37	16	4790154	4790154	+	Splice_Site	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:4790154C>T	ENST00000299320.5	+	4	755	c.277C>T	c.(277-279)Cca>Tca	p.P93S	C16orf71_ENST00000590191.1_Splice_Site_p.P107S|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	93								p.P93S(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TTCTTGACAGCCAGTTCTGGT	0.438																																					p.P93S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C277T	16						.						79.0	82.0	81.0					16																	4790154		2197	4300	6497	4730155	SO:0001630	splice_region_variant	146562	exon4			AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.277-1C>T	16.37:g.4790154C>T		Somatic		Capture	SOLID	Phase_I	4730155	NM_139170	Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788725	0.49997	.	.	ENSG00000166246	ENST00000299320	T	0.10763	2.84	3.85	2.89	0.33648	.	0.827597	0.09875	N	0.744439	T	0.24084	0.0583	L	0.55481	1.735	0.24919	N	0.991991	D	0.89917	1.0	D	0.74674	0.984	T	0.08889	-1.0700	9	.	.	.	-2.8513	6.6512	0.22963	0.0:0.8723:0.0:0.1277	.	93	Q8IYS4	CP071_HUMAN	S	93	ENSP00000299320:P93S	.	P	+	1	0	C16orf71	4730155	0.084000	0.21492	0.905000	0.35620	0.201000	0.24016	0.025000	0.13577	2.164000	0.68074	0.449000	0.29647	CCA		0.438	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170	Missense_Mutation
SEPT12	124404	hgsc.bcm.edu	37	16	4829784	4829784	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:4829784G>T	ENST00000268231.8	-	8	993	c.730C>A	c.(730-732)Cga>Aga	p.R244R	SEPT12_ENST00000396693.5_Silent_p.R198R	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	244	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)	p.R244*(1)|p.R244R(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						AAAGGGATTCGGTCCTGGGAA	0.572																																					p.R244R												.	.	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C730A	16						.						64.0	56.0	58.0					16																	4829784		2197	4300	6497	4769785	SO:0001819	synonymous_variant	124404	exon8			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.730C>A	16.37:g.4829784G>T		Somatic		Capture	SOLID	Phase_I	4769785	NM_144605	Q0P6B0|Q1PBH0|Q96LL0	Silent	SNP	ENST00000268231.8	37	CCDS10522.1																																																																																				0.572	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605	
DCTPP1	79077	hgsc.bcm.edu	37	16	30441261	30441261	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:30441261C>T	ENST00000319285.4	-	1	135	c.41G>A	c.(40-42)gGa>gAa	p.G14E	DCTPP1_ENST00000568434.1_5'Flank|DCTPP1_ENST00000567983.1_Intron|DCTPP1_ENST00000565758.1_5'UTR|DCTPP1_ENST00000568973.1_5'Flank	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	14					nucleoside triphosphate catabolic process (GO:0009143)|protein homotetramerization (GO:0051289)	cytosol (GO:0005829)	dCTP diphosphatase activity (GO:0047840)|magnesium ion binding (GO:0000287)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|pyrimidine deoxyribonucleotide binding (GO:0032556)	p.G14E(1)		kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						AGTGTCCTCTCCCCCCGTGTC	0.697																																					p.G14E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G41A	16						.						35.0	35.0	35.0					16																	30441261		2197	4299	6496	30348762	SO:0001583	missense	79077	exon1			BC001344	CCDS10680.1	16p11.2	2009-02-11			ENSG00000179958	ENSG00000179958	3.6.1.12		28777	protein-coding gene	gene with protein product	"""XTP3-transactivated protein A"""	615840				15740738	Standard	NM_024096		Approved	MGC5627, RS21C6, CDA03, XTP3TPA	uc002dyf.3	Q9H773	OTTHUMG00000132416	ENST00000319285.4:c.41G>A	16.37:g.30441261C>T	ENSP00000322524:p.Gly14Glu	Somatic		Capture	SOLID	Phase_I	30348762	NM_024096		Missense_Mutation	SNP	ENST00000319285.4	37	CCDS10680.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475019	0.43942	.	.	ENSG00000179958	ENST00000319285	.	.	.	5.08	-5.82	0.02333	.	1.882580	0.02915	N	0.137144	T	0.41259	0.1151	L	0.59436	1.845	0.20307	N	0.999916	B	0.06786	0.001	B	0.04013	0.001	T	0.42224	-0.9464	9	0.49607	T	0.09	0.051	7.2491	0.26140	0.0:0.1651:0.485:0.3498	.	14	Q9H773	DCTP1_HUMAN	E	14	.	ENSP00000322524:G14E	G	-	2	0	DCTPP1	30348762	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.128000	0.15810	-0.733000	0.04850	-0.283000	0.09986	GGA		0.697	DCTPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255553.2	NM_024096	
SALL1	6299	hgsc.bcm.edu	37	16	51174819	51174819	+	Silent	SNP	C	C	T	rs556441449		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:51174819C>T	ENST00000251020.4	-	2	1347	c.1314G>A	c.(1312-1314)gcG>gcA	p.A438A	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.A341A|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	438					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A438A(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGTACTTTTCGCTTCAAAGG	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21436	0.0		0.0	False		,,,				2504	0.0				p.A438A	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1314A	16						.						109.0	103.0	105.0					16																	51174819		2198	4300	6498	49732320	SO:0001819	synonymous_variant	6299	exon2			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1314G>A	16.37:g.51174819C>T		Somatic		Capture	SOLID	Phase_I	49732320	NM_002968	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.488	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
GNAO1	2775	hgsc.bcm.edu	37	16	56370656	56370656	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:56370656G>A	ENST00000262493.6	+	6	1453	c.607G>A	c.(607-609)Gga>Aga	p.G203R	GNAO1_ENST00000262494.7_Missense_Mutation_p.G203R	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	203			G -> R (in EIEE17; the mutant protein localizes normally to the cell periphery; has impaired current inhibition after norepinephrine application compared to wildt-ype). {ECO:0000269|PubMed:23993195}.		adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)	p.G203R(4)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GTTTGACGTCGGAGGCCAGCG	0.602																																					p.G203R												.	.	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)	c.G607A	16						.						72.0	53.0	59.0					16																	56370656		2198	4300	6498	54928157	SO:0001583	missense	2775	exon6				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.607G>A	16.37:g.56370656G>A	ENSP00000262493:p.Gly203Arg	Somatic		Capture	SOLID	Phase_I	54928157	NM_138736	P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257889	0.95368	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.95690	-3.78;-3.78	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99698	1.1003	10	0.87932	D	0	.	18.9383	0.92595	0.0:0.0:1.0:0.0	.	203;203	P09471;P09471-2	GNAO_HUMAN;.	R	203	ENSP00000262493:G203R;ENSP00000262494:G203R	ENSP00000262493:G203R	G	+	1	0	GNAO1	54928157	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.856000	0.99531	2.460000	0.83146	0.557000	0.71058	GGA		0.602	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988	
SLC12A3	6559	hgsc.bcm.edu	37	16	56926016	56926016	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:56926016C>T	ENST00000563236.1	+	20	2415	c.2390C>T	c.(2389-2391)gCg>gTg	p.A797V	SLC12A3_ENST00000438926.2_Missense_Mutation_p.A797V|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A796V|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A796V			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	797					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.A797V(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTTGACCCAGCGGAGGACGGG	0.602																																					p.A797V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2390T	16						.						130.0	123.0	126.0					16																	56926016		2198	4300	6498	55483517	SO:0001583	missense	6559	exon20				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2390C>T	16.37:g.56926016C>T	ENSP00000456149:p.Ala797Val	Somatic		Capture	SOLID	Phase_I	55483517	NM_000339	A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	C	9.624	1.134632	0.21123	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	4.47	2.44	0.29823	.	0.576129	0.17444	N	0.174001	T	0.24470	0.0593	N	0.19112	0.55	0.21473	N	0.999672	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.08055	0.003;0.001;0.002	T	0.15065	-1.0450	9	0.30078	T	0.28	.	7.3106	0.26473	0.0:0.729:0.1777:0.0933	.	796;797;797	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	V	796;797	.	ENSP00000262502:A797V	A	+	2	0	SLC12A3	55483517	0.002000	0.14202	0.089000	0.20774	0.617000	0.37484	0.191000	0.17076	0.593000	0.29745	0.655000	0.94253	GCG		0.602	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		
CCDC113	29070	hgsc.bcm.edu	37	16	58287929	58287929	+	Missense_Mutation	SNP	C	C	T	rs150738036		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:58287929C>T	ENST00000219299.4	+	3	335	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	86						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.R86W(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						ATCCAAATCCCGGACAGGTAT	0.493													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18386	0.0		0.0	False		,,,				2504	0.0				p.R86W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C256T	16						.	C	,TRP/ARG	3,4393	6.2+/-15.9	0,3,2195	115.0	98.0	104.0		,256	4.5	0.7	16	dbSNP_134	104	0,8600		0,0,4300	no	intron,missense	CCDC113	NM_001142302.1,NM_014157.3	,101	0,3,6495	TT,TC,CC		0.0,0.0682,0.0231	,probably-damaging	,86/378	58287929	3,12993	2198	4300	6498	56845430	SO:0001583	missense	29070	exon3			AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.256C>T	16.37:g.58287929C>T	ENSP00000219299:p.Arg86Trp	Somatic		Capture	SOLID	Phase_I	56845430	NM_014157	B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003816	0.54254	6.82E-4	0.0	ENSG00000103021	ENST00000219299	T	0.38401	1.14	5.55	4.54	0.55810	.	0.210674	0.47852	D	0.000214	T	0.57388	0.2050	M	0.74258	2.255	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.60146	-0.7320	10	0.72032	D	0.01	-10.0793	10.8644	0.46847	0.1877:0.8123:0.0:0.0	.	86	Q9H0I3	CC113_HUMAN	W	86	ENSP00000219299:R86W	ENSP00000219299:R86W	R	+	1	2	CCDC113	56845430	1.000000	0.71417	0.721000	0.30653	0.011000	0.07611	3.104000	0.50306	2.597000	0.87782	0.655000	0.94253	CGG		0.493	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157	
PDP2	57546	hgsc.bcm.edu	37	16	66918454	66918454	+	Silent	SNP	C	C	T	rs145527465		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:66918454C>T	ENST00000311765.2	+	2	601	c.267C>T	c.(265-267)ggC>ggT	p.G89G	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	89					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)	p.G89G(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TTCGAGCTGGCGAGACAACCC	0.493																																					p.G89G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C267T	16						.	C		0,4400		0,0,2200	83.0	74.0	77.0		267	-9.9	0.1	16	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDP2	NM_020786.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		89/530	66918454	1,12999	2200	4300	6500	65475955	SO:0001819	synonymous_variant	57546	exon2			AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.267C>T	16.37:g.66918454C>T		Somatic		Capture	SOLID	Phase_I	65475955	NM_020786	A8K924	Silent	SNP	ENST00000311765.2	37	CCDS10822.1																																																																																				0.493	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786	
NUTF2	10204	hgsc.bcm.edu	37	16	67902410	67902410	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:67902410C>T	ENST00000219169.4	+	4	461	c.178C>T	c.(178-180)Ccg>Tcg	p.P60S	NUTF2_ENST00000569436.2_Missense_Mutation_p.P60S|NUTF2_ENST00000568396.2_Missense_Mutation_p.P60S	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	60	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		GTAGAGCCTTCCGTTCCAGAA	0.547																																					p.P60S												.	.	0			c.C178T	16						.						213.0	221.0	218.0					16																	67902410		2198	4300	6498	66459911	SO:0001583	missense	10204	exon4			U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.178C>T	16.37:g.67902410C>T	ENSP00000219169:p.Pro60Ser	Somatic		Capture	SOLID	Phase_I	66459911	NM_005796	B2R4G7|P13662|Q6IB67	Missense_Mutation	SNP	ENST00000219169.4	37	CCDS10848.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424785	0.83667	.	.	ENSG00000102898	ENST00000219169	.	.	.	5.85	5.85	0.93711	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.051084	0.85682	D	0.000000	T	0.79528	0.4461	M	0.77712	2.385	0.58432	D	0.999995	D	0.57571	0.98	D	0.65233	0.933	T	0.77459	-0.2580	9	0.40728	T	0.16	-27.1903	19.7585	0.96304	0.0:1.0:0.0:0.0	.	60	P61970	NTF2_HUMAN	S	60	.	ENSP00000219169:P60S	P	+	1	0	NUTF2	66459911	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.423000	0.80229	2.773000	0.95371	0.655000	0.94253	CCG		0.547	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268871.1		
LCAT	3931	hgsc.bcm.edu	37	16	67976969	67976969	+	Missense_Mutation	SNP	C	C	T	rs538148718		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:67976969C>T	ENST00000264005.5	-	2	330	c.301G>A	c.(301-303)Gat>Aat	p.D101N	CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	101					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)	p.D101N(1)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CTGGTGTTATCGATCCAGCAG	0.577																																					p.D101N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G301A	16	GRCh37	CM086845	LCAT	M		.						147.0	118.0	128.0					16																	67976969		2198	4299	6497	66534470	SO:0001583	missense	3931	exon2				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.301G>A	16.37:g.67976969C>T	ENSP00000264005:p.Asp101Asn	Somatic		Capture	SOLID	Phase_I	66534470	NM_000229	Q53XQ3	Missense_Mutation	SNP	ENST00000264005.5	37	CCDS10854.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820139	0.90873	.	.	ENSG00000213398	ENST00000264005	D	0.95821	-3.82	5.98	5.98	0.97165	.	0.128614	0.49916	U	0.000129	D	0.98460	0.9487	H	0.95004	3.61	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	D	0.99160	1.0861	10	0.87932	D	0	-14.3685	18.0148	0.89236	0.0:1.0:0.0:0.0	.	101	P04180	LCAT_HUMAN	N	101	ENSP00000264005:D101N	ENSP00000264005:D101N	D	-	1	0	LCAT	66534470	1.000000	0.71417	0.987000	0.45799	0.742000	0.42306	6.089000	0.71384	2.861000	0.98227	0.650000	0.86243	GAT		0.577	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3		
DPEP3	64180	hgsc.bcm.edu	37	16	68011673	68011673	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:68011673G>A	ENST00000268793.4	-	6	1264	c.891C>T	c.(889-891)gaC>gaT	p.D297D	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	272					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.D297D(1)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TTATCAAGGTGTCCGATGCAT	0.483																																					p.D297D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C891T	16						.						74.0	66.0	69.0					16																	68011673		2198	4300	6498	66569174	SO:0001819	synonymous_variant	64180	exon6			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.891C>T	16.37:g.68011673G>A		Somatic		Capture	SOLID	Phase_I	66569174	NM_001129758	B3KQ48|Q6PEZ5|Q6UXE4	Silent	SNP	ENST00000268793.4	37	CCDS10856.1																																																																																				0.483	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357	
SLC7A6OS	84138	hgsc.bcm.edu	37	16	68330604	68330604	+	IGR	SNP	C	C	A	rs562057877		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:68330604C>A	ENST00000263997.6	-	0	4189				SLC7A6_ENST00000219343.6_Silent_p.T448T|SLC7A6_ENST00000566454.1_Silent_p.T448T	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand						hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T448T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		TCACTGACACCATTAATTCCC	0.493																																					p.T448T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1344A	16						.						259.0	224.0	236.0					16																	68330604		2198	4300	6498	66888105	SO:0001628	intergenic_variant	9057	exon10				CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558		16.37:g.68330604C>A		Somatic		Capture	SOLID	Phase_I	66888105	NM_003983	Q8TCZ3|Q9H8R8	Silent	SNP	ENST00000263997.6	37	CCDS10865.1																																																																																				0.493	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178	
CDH3	1001	hgsc.bcm.edu	37	16	68732181	68732181	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:68732181G>A	ENST00000264012.4	+	16	2912	c.2368G>A	c.(2368-2370)Gcg>Acg	p.A790T	CDH3_ENST00000581171.1_Missense_Mutation_p.A735T|CDH3_ENST00000429102.2_3'UTR	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	790	Ser-rich.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.A790T(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CTCCGACGCCGCGTCCCTGAG	0.607																																					p.A790T												.	.	3	Unknown(2)|Substitution - Missense(1)	breast(2)|large_intestine(1)	c.G2368A	16						.						100.0	99.0	99.0					16																	68732181		2198	4300	6498	67289682	SO:0001583	missense	1001	exon16			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.2368G>A	16.37:g.68732181G>A	ENSP00000264012:p.Ala790Thr	Somatic		Capture	SOLID	Phase_I	67289682	NM_001793	B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414864	0.42817	.	.	ENSG00000062038	ENST00000264012;ENST00000542274	T	0.76709	-1.04	5.51	2.48	0.30137	Cadherin, cytoplasmic domain (1);	0.178051	0.27056	N	0.021147	T	0.60077	0.2241	N	0.20685	0.6	0.39067	D	0.960645	B	0.33637	0.42	B	0.31495	0.131	T	0.57573	-0.7788	10	0.54805	T	0.06	.	7.9203	0.29841	0.1383:0.1342:0.7275:0.0	.	790	P22223	CADH3_HUMAN	T	790;735	ENSP00000264012:A790T	ENSP00000264012:A790T	A	+	1	0	CDH3	67289682	0.946000	0.32159	0.498000	0.27564	0.243000	0.25628	3.120000	0.50430	0.373000	0.24621	-0.794000	0.03295	GCG		0.607	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793	
C16orf46	123775	hgsc.bcm.edu	37	16	81095120	81095120	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:81095120C>T	ENST00000299578.5	-	4	1069	c.834G>A	c.(832-834)acG>acA	p.T278T	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'Flank|C16orf46_ENST00000378611.4_Silent_p.T278T	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	278						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T278T(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GGGAGGATGGCGTGTCGTTGA	0.567																																					p.T278T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G834A	16						.						142.0	129.0	134.0					16																	81095120		2202	4300	6502	79652621	SO:0001819	synonymous_variant	123775	exon4			BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.834G>A	16.37:g.81095120C>T		Somatic		Capture	SOLID	Phase_I	79652621	NM_152337	Q96MA7	Silent	SNP	ENST00000299578.5	37	CCDS10932.1																																																																																				0.567	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337	
DNAAF1	123872	hgsc.bcm.edu	37	16	84208297	84208297	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:84208297A>G	ENST00000378553.5	+	10	1791	c.1667A>G	c.(1666-1668)gAt>gGt	p.D556G	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	556					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.D556G(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TTGGAAGATGATGATGAAACA	0.468											OREG0023983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D556G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1667G	16						.						183.0	133.0	150.0					16																	84208297		2200	4300	6500	82765798	SO:0001583	missense	123872	exon10			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1667A>G	16.37:g.84208297A>G	ENSP00000367815:p.Asp556Gly	Somatic	1227	Capture	SOLID	Phase_I	82765798	NM_178452	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	A	12.00	1.806231	0.31961	.	.	ENSG00000154099	ENST00000378553	T	0.25085	1.82	5.61	-2.61	0.06171	.	1.623070	0.04044	N	0.303595	T	0.15696	0.0378	L	0.36672	1.1	0.09310	N	1	P;B	0.39311	0.667;0.331	B;B	0.32928	0.155;0.09	T	0.14364	-1.0475	10	0.29301	T	0.29	-1.2417	3.9495	0.09363	0.2592:0.3016:0.0:0.4393	.	320;556	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	G	556	ENSP00000367815:D556G	ENSP00000367815:D556G	D	+	2	0	DNAAF1	82765798	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.200000	0.09478	-0.737000	0.04824	-1.142000	0.01873	GAT		0.468	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452	
ZNF276	92822	hgsc.bcm.edu	37	16	89804415	89804415	+	Silent	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:89804415C>A	ENST00000443381.2	+	11	1703	c.1606C>A	c.(1606-1608)Cgg>Agg	p.R536R	ZNF276_ENST00000568064.1_3'UTR|ZNF276_ENST00000446326.2_Silent_p.R322R|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000289816.5_Silent_p.R461R	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GTGCAGGCAGCGGGCATCCCT	0.597																																					p.R536R												.	.	0			c.C1606A	16						.						75.0	65.0	69.0					16																	89804415		2198	4300	6498	88331916	SO:0001819	synonymous_variant	92822	exon11			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1606C>A	16.37:g.89804415C>A		Somatic		Capture	SOLID	Phase_I	88331916	NM_001113525	Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	CCDS45554.1																																																																																				0.597	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287	
FUK	197258	hgsc.bcm.edu	37	16	70516640	70516642	+	IGR	DEL	TGT	TGT	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	TGT	TGT	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:70516640_70516642delTGT	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_In_Frame_Del_p.N637del	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.N637delN(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				ACCTCCTCGATGTTGTGGGAGAC	0.581																																					p.637_638del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1910_1912del	16						.																																			69074143	SO:0001628	intergenic_variant	25839	exon15				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085		16.37:g.70516643_70516645delTGT		Somatic		Capture	SOLID	Phase_I	69074141	NM_015386	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	In_Frame_Del	DEL	ENST00000288078.6	37	CCDS10891.2																																																																																				0.581	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059	
FANCA	2175	hgsc.bcm.edu	37	16	89825105	89825105	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr16:89825105A>C	ENST00000389301.3	-	30	2891	c.2861T>G	c.(2860-2862)tTc>tGc	p.F954C	FANCA_ENST00000568369.1_Missense_Mutation_p.F954C	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	954					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCACTGGTGGAAGTCCTGCCT	0.547			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.F954C		yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	.	.	0			c.T2861G	16						.						100.0	92.0	95.0					16																	89825105		2198	4300	6498	88352606	SO:0001583	missense	2175	exon30	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2861T>G	16.37:g.89825105A>C	ENSP00000373952:p.Phe954Cys	Somatic		Capture	SOLID	Phase_I	88352606	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.660233	0.47572	.	.	ENSG00000187741	ENST00000389301	D	0.88586	-2.4	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000010	D	0.93406	0.7897	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.93903	0.7190	10	0.87932	D	0	-37.9451	11.7935	0.52084	1.0:0.0:0.0:0.0	.	954;954	B4DRI7;O15360	.;FANCA_HUMAN	C	954	ENSP00000373952:F954C	ENSP00000373952:F954C	F	-	2	0	FANCA	88352606	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	4.881000	0.63114	2.117000	0.64856	0.454000	0.30748	TTC		0.547	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		
MPPE1	65258	hgsc.bcm.edu	37	18	11889437	11889437	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:11889437T>G	ENST00000588072.1	-	5	1664	c.443A>C	c.(442-444)cAt>cCt	p.H148P	MPPE1_ENST00000344987.7_Missense_Mutation_p.H148P|MPPE1_ENST00000317235.7_Missense_Mutation_p.H148P|MPPE1_ENST00000309976.9_Missense_Mutation_p.H148P|MPPE1_ENST00000399978.2_Missense_Mutation_p.H148P	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	148					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CAGCTGTACATGACTTGGGTG	0.483																																					p.H148P												.	.	0			c.A443C	18						.						130.0	110.0	117.0					18																	11889437		2203	4300	6503	11879437	SO:0001583	missense	65258	exon5			BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.443A>C	18.37:g.11889437T>G	ENSP00000465894:p.His148Pro	Somatic		Capture	SOLID	Phase_I	11879437	NM_023075	B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Missense_Mutation	SNP	ENST00000588072.1	37	CCDS11853.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.406958	0.42715	.	.	ENSG00000154889	ENST00000317235;ENST00000309976;ENST00000317251;ENST00000344987;ENST00000399978	T;T;T;T;T	0.68025	2.3;2.3;2.3;-0.3;2.3	5.77	5.77	0.91146	Calcineurin-like phosphoesterase superfamily domain (1);	0.334523	0.38492	N	0.001678	T	0.60945	0.2308	L	0.29908	0.895	0.09310	N	1	P;P;P;P;P;B	0.49696	0.82;0.911;0.85;0.927;0.82;0.302	P;P;P;P;P;B	0.51079	0.527;0.563;0.658;0.641;0.527;0.105	T	0.55379	-0.8150	10	0.30078	T	0.28	0.0614	9.204	0.37278	0.1213:0.0:0.1267:0.7519	.	148;148;51;148;148;148	Q53F39-3;Q53F39-4;B3KNP1;Q53F39-5;Q53F39-2;Q53F39	.;.;.;.;.;MPPE1_HUMAN	P	148;148;51;148;148	ENSP00000327257:H148P;ENSP00000311200:H148P;ENSP00000312935:H51P;ENSP00000339423:H148P;ENSP00000382860:H148P	ENSP00000311200:H148P	H	-	2	0	MPPE1	11879437	0.180000	0.23148	0.024000	0.17045	0.579000	0.36224	2.999000	0.49473	2.326000	0.78906	0.533000	0.62120	CAT		0.483	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254562.2	NM_023075	
FAM210A	125228	hgsc.bcm.edu	37	18	13681626	13681626	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:13681626T>G	ENST00000322247.3	-	3	838	c.451A>C	c.(451-453)Aca>Cca	p.T151P	FAM210A_ENST00000402563.1_Missense_Mutation_p.T151P|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	151	DUF1279.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.T151P(1)									TAATAAAATGTTCCAAACCAA	0.313																																					p.T151P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A451C	18						.						70.0	69.0	69.0					18																	13681626		2203	4300	6503	13671626	SO:0001583	missense	125228	exon2			AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.451A>C	18.37:g.13681626T>G	ENSP00000323635:p.Thr151Pro	Somatic		Capture	SOLID	Phase_I	13671626	NM_152352	D3DUJ4	Missense_Mutation	SNP	ENST00000322247.3	37	CCDS11866.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.926481	0.52759	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.32023	1.47;1.47	5.51	5.51	0.81932	Domain of unknown function DUF1279 (1);	0.100796	0.64402	D	0.000002	T	0.45756	0.1358	M	0.67953	2.075	0.52501	D	0.999951	D	0.69078	0.997	D	0.68621	0.959	T	0.47328	-0.9126	10	0.33141	T	0.24	-15.7804	5.001	0.14264	0.2696:0.0801:0.0:0.6503	.	151	Q96ND0	CR019_HUMAN	P	151	ENSP00000323635:T151P;ENSP00000386115:T151P	ENSP00000323635:T151P	T	-	1	0	C18orf19	13671626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.303000	0.33470	2.080000	0.62538	0.533000	0.62120	ACA		0.313	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352	
LAMA3	3909	hgsc.bcm.edu	37	18	21487585	21487585	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:21487585A>G	ENST00000313654.9	+	53	7031	c.6790A>G	c.(6790-6792)Acc>Gcc	p.T2264A	LAMA3_ENST00000269217.6_Missense_Mutation_p.T655A|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.T599A|LAMA3_ENST00000399516.3_Missense_Mutation_p.T2208A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2264	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.T2264A(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGTGATAGACACCAATCTCAC	0.413																																					p.T599A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1795G	18						.						195.0	189.0	191.0					18																	21487585		2203	4300	6503	19741583	SO:0001583	missense	3909	exon15			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6790A>G	18.37:g.21487585A>G	ENSP00000324532:p.Thr2264Ala	Somatic		Capture	SOLID	Phase_I	19741583	NM_001127718	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	1.919	-0.448794	0.04572	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.21361	2.29;2.27;2.01	5.28	0.28	0.15682	.	.	.	.	.	T	0.09024	0.0223	N	0.20483	0.58	0.09310	N	1	B;B;B;B	0.12013	0.005;0.003;0.002;0.003	B;B;B;B	0.09377	0.003;0.004;0.002;0.003	T	0.39313	-0.9620	9	0.06099	T	0.92	.	3.6186	0.08086	0.4366:0.0:0.2988:0.2646	.	599;655;2208;2264	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	A	2264;2208;655	ENSP00000324532:T2264A;ENSP00000382432:T2208A;ENSP00000269217:T655A	ENSP00000269217:T655A	T	+	1	0	LAMA3	19741583	0.000000	0.05858	0.047000	0.18901	0.764000	0.43329	-0.017000	0.12590	-0.084000	0.12595	-0.336000	0.08194	ACC		0.413	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
KCTD1	284252	hgsc.bcm.edu	37	18	24035850	24035850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:24035850G>A	ENST00000408011.3	-	5	1190	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	KCTD1_ENST00000317932.7_Nonsense_Mutation_p.Q211*|KCTD1_ENST00000579973.1_Nonsense_Mutation_p.Q211*|KCTD1_ENST00000417602.1_Nonsense_Mutation_p.Q819*|KCTD1_ENST00000580059.1_Nonsense_Mutation_p.Q211*	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	211					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Q211*(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCTCTTTGCTGCAACCTCTCG	0.552																																					p.Q211X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C631T	18						.						60.0	51.0	54.0					18																	24035850		2203	4300	6503	22289848	SO:0001587	stop_gained	284252	exon6			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.631C>T	18.37:g.24035850G>A	ENSP00000384367:p.Gln211*	Somatic		Capture	SOLID	Phase_I	22289848	NM_198991	A8K1F5	Nonsense_Mutation	SNP	ENST00000408011.3	37	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	G	38	6.825981	0.97865	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.4366	0.99092	0.0:0.0:1.0:0.0	.	.	.	.	X	211;819;211	.	ENSP00000314831:Q211X	Q	-	1	0	KCTD1	22289848	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.373000	0.66162	2.837000	0.97791	0.591000	0.81541	CAG		0.552	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091	
DSG4	147409	hgsc.bcm.edu	37	18	28970652	28970652	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:28970652C>T	ENST00000308128.4	+	6	686	c.551C>T	c.(550-552)gCa>gTa	p.A184V	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.A184V|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A184V(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCACAGATGCAGATGAAGAA	0.393																																					p.A184V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C551T	18						.						90.0	90.0	90.0					18																	28970652		2203	4300	6503	27224650	SO:0001583	missense	147409	exon6			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.551C>T	18.37:g.28970652C>T	ENSP00000311859:p.Ala184Val	Somatic		Capture	SOLID	Phase_I	27224650	NM_001134453	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944068	0.92593	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.61627	0.09;0.09	5.98	5.98	0.97165	Cadherin (5);Cadherin-like (1);	0.000000	0.34603	N	0.003836	T	0.80065	0.4555	M	0.82823	2.61	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81230	-0.1027	10	0.87932	D	0	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	184;184	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	V	184	ENSP00000311859:A184V;ENSP00000352785:A184V	ENSP00000311859:A184V	A	+	2	0	DSG4	27224650	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	4.672000	0.61597	2.843000	0.97960	0.650000	0.86243	GCA		0.393	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
B4GALT6	9331	hgsc.bcm.edu	37	18	29210958	29210958	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:29210958C>T	ENST00000306851.5	-	6	1036	c.740G>A	c.(739-741)cGt>cAt	p.R247H	B4GALT6_ENST00000237019.7_Missense_Mutation_p.R208H|B4GALT6_ENST00000383131.3_Missense_Mutation_p.R208H	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	247					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.R247H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AGCAAAATGACGTGGCATTTC	0.408																																					p.R247H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G740A	18						.						163.0	135.0	144.0					18																	29210958		2203	4300	6503	27464956	SO:0001583	missense	9331	exon6			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.740G>A	18.37:g.29210958C>T	ENSP00000306459:p.Arg247His	Somatic		Capture	SOLID	Phase_I	27464956	NM_004775	O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835862	0.91117	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	T;T;T	0.36340	1.26;1.26;1.26	5.5	4.62	0.57501	.	0.146938	0.48286	D	0.000196	T	0.68137	0.2968	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.993	T	0.77691	-0.2493	10	0.87932	D	0	-2.94	15.8638	0.79047	0.1369:0.8631:0.0:0.0	.	208;208;247	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	H	247;208;208	ENSP00000306459:R247H;ENSP00000237019:R208H;ENSP00000372613:R208H	ENSP00000237019:R208H	R	-	2	0	B4GALT6	27464956	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	7.750000	0.85110	1.429000	0.47314	0.585000	0.79938	CGT		0.408	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775	
RPRD1A	55197	hgsc.bcm.edu	37	18	33573121	33573121	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:33573121T>C	ENST00000399022.4	-	7	1103	c.932A>G	c.(931-933)gAa>gGa	p.E311G	RPRD1A_ENST00000357384.4_Missense_Mutation_p.E311G|RPRD1A_ENST00000588737.1_Missense_Mutation_p.E275G|RPRD1A_ENST00000590898.1_Missense_Mutation_p.E275G|RPRD1A_ENST00000337059.5_Missense_Mutation_p.E275G	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	311					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.E311G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						CCATCAATCTTCACTGTAGAT	0.502																																					p.E311G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A932G	18						.						77.0	73.0	74.0					18																	33573121		2203	4300	6503	31827119	SO:0001583	missense	55197	exon7			AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.932A>G	18.37:g.33573121T>C	ENSP00000381984:p.Glu311Gly	Somatic		Capture	SOLID	Phase_I	31827119	NM_018170	A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897961	0.33535	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059	.	.	.	5.67	5.67	0.87782	.	0.281914	0.35495	N	0.003174	T	0.38453	0.1041	N	0.08118	0	0.80722	D	1	B;B	0.20368	0.01;0.044	B;B	0.18871	0.006;0.023	T	0.24012	-1.0172	9	0.38643	T	0.18	-18.4247	13.8694	0.63610	0.0:0.0:0.0:1.0	.	311;275	Q96P16;Q96P16-3	RPR1A_HUMAN;.	G	311;311;275	.	ENSP00000337476:E275G	E	-	2	0	RPRD1A	31827119	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.452000	0.66638	2.170000	0.68504	0.533000	0.62120	GAA		0.502	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170	
PIK3C3	5289	hgsc.bcm.edu	37	18	39637988	39637988	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:39637988G>A	ENST00000262039.4	+	22	2491	c.2405G>A	c.(2404-2406)tGt>tAt	p.C802Y	PIK3C3_ENST00000593098.1_Missense_Mutation_p.C287Y|PIK3C3_ENST00000588156.1_Missense_Mutation_p.C26Y|PIK3C3_ENST00000398870.3_Missense_Mutation_p.C739Y	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	802	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.C802Y(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CGTAAACAGTGTTACACGGCT	0.408										TSP Lung(28;0.18)																											p.C802Y	NSCLC(37;552 1060 2683 16430 37914)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2405A	18						.						78.0	76.0	77.0					18																	39637988		2203	4300	6503	37891986	SO:0001583	missense	5289	exon22			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2405G>A	18.37:g.39637988G>A	ENSP00000262039:p.Cys802Tyr	Somatic		Capture	SOLID	Phase_I	37891986	NM_002647	Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447897	0.84101	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.83992	-1.79;-1.79	5.21	5.21	0.72293	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.087206	0.85682	D	0.000000	D	0.94470	0.8220	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.96294	0.9216	9	.	.	.	.	18.3664	0.90392	0.0:0.0:1.0:0.0	.	739;802	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	Y	802;739	ENSP00000262039:C802Y;ENSP00000381845:C739Y	.	C	+	2	0	PIK3C3	37891986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.393000	0.97256	2.422000	0.82143	0.555000	0.69702	TGT		0.408	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	
KATNAL2	83473	hgsc.bcm.edu	37	18	44593483	44593483	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:44593483C>A	ENST00000245121.5	+	8	796	c.602C>A	c.(601-603)cCt>cAt	p.P201H	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.P273H	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.P201H(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GTTGTGTATCCTATAAGGGTA	0.433																																					p.P201H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C602A	18						.						97.0	88.0	91.0					18																	44593483		2203	4300	6503	42847481	SO:0001583	missense	83473	exon8			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.602C>A	18.37:g.44593483C>A	ENSP00000245121:p.Pro201His	Somatic		Capture	SOLID	Phase_I	42847481	NM_031303		Missense_Mutation	SNP	ENST00000245121.5	37	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528373	0.64860	.	.	ENSG00000167216	ENST00000356157;ENST00000245121;ENST00000454462	D;D	0.95103	-3.61;-3.61	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	H	0.97214	3.96	0.80722	D	1	.	.	.	.	.	.	D	0.98982	1.0805	8	0.87932	D	0	-1.1141	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	H	273;201;41	ENSP00000348478:P273H;ENSP00000245121:P201H	ENSP00000245121:P201H	P	+	2	0	KATNAL2	42847481	1.000000	0.71417	0.994000	0.49952	0.209000	0.24338	7.147000	0.77382	2.826000	0.97356	0.655000	0.94253	CCT		0.433	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303	
ST8SIA3	51046	hgsc.bcm.edu	37	18	55020134	55020134	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:55020134C>G	ENST00000324000.3	+	1	2091	c.57C>G	c.(55-57)agC>agG	p.S19R		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	19					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.S19R(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TCATGCTCAGCGTCGCCCTGC	0.597																																					p.S19R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C57G	18						.						69.0	67.0	68.0					18																	55020134		2203	4300	6503	53171132	SO:0001583	missense	51046	exon1			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.57C>G	18.37:g.55020134C>G	ENSP00000320431:p.Ser19Arg	Somatic		Capture	SOLID	Phase_I	53171132	NM_015879	A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295236	0.81025	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.49432	0.78	4.55	3.68	0.42216	.	0.042943	0.85682	D	0.000000	T	0.47358	0.1441	L	0.53249	1.67	0.58432	D	0.999994	P	0.50066	0.931	P	0.46389	0.515	T	0.44143	-0.9347	10	0.45353	T	0.12	.	11.4835	0.50339	0.0:0.9101:0.0:0.0899	.	19	O43173	SIA8C_HUMAN	R	126;19	ENSP00000320431:S19R	ENSP00000320431:S19R	S	+	3	2	ST8SIA3	53171132	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.994000	0.56994	0.913000	0.36797	0.491000	0.48974	AGC		0.597	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879	
EPB41L3	23136	hgsc.bcm.edu	37	18	5397348	5397348	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:5397348C>A	ENST00000341928.2	-	18	2890	c.2550G>T	c.(2548-2550)aaG>aaT	p.K850N	EPB41L3_ENST00000544123.1_Missense_Mutation_p.K681N|EPB41L3_ENST00000542146.1_Missense_Mutation_p.K155N|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K628N|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K628N|EPB41L3_ENST00000427684.2_Missense_Mutation_p.K147N|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K850N	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	850	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.K850N(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCTGCACCACCTTCTCAGTGC	0.597																																					p.K850N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2550T	18						.						54.0	56.0	55.0					18																	5397348		2203	4300	6503	5387348	SO:0001583	missense	23136	exon18			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2550G>T	18.37:g.5397348C>A	ENSP00000343158:p.Lys850Asn	Somatic		Capture	SOLID	Phase_I	5387348	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264517	0.59431	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;T;T;D;D	0.85411	-1.65;-1.82;-0.44;-0.47;-1.65;-1.98	5.73	5.73	0.89815	.	0.869860	0.10428	N	0.675872	D	0.93119	0.7809	M	0.74881	2.28	0.58432	D	0.999997	D;D;D;D;P;D;D;D	0.89917	0.997;1.0;0.999;0.998;0.682;0.983;0.996;0.998	D;D;D;D;B;P;D;P	0.91635	0.993;0.996;0.999;0.942;0.205;0.846;0.954;0.893	D	0.90460	0.4445	10	0.51188	T	0.08	.	19.9019	0.96988	0.0:1.0:0.0:0.0	.	681;147;155;242;519;628;850;85	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	N	850;519;681;519;147;155;850;628	ENSP00000343158:K850N;ENSP00000441174:K681N;ENSP00000392195:K147N;ENSP00000442233:K155N;ENSP00000341138:K850N;ENSP00000382981:K628N	ENSP00000343158:K850N	K	-	3	2	EPB41L3	5387348	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	3.722000	0.54948	2.698000	0.92095	0.591000	0.81541	AAG		0.597	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
ARHGAP28	79822	hgsc.bcm.edu	37	18	6887212	6887212	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:6887212C>T	ENST00000383472.4	+	12	1614	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S	ARHGAP28_ENST00000314319.3_Missense_Mutation_p.P345S|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.P340S|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.P327S|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.P504S|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.P345S|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.P345S|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.P452S			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	504	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.P345S(1)|p.P504S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CATGGCGCTGCCTGATGCCAA	0.473																																					p.P345S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1033T	18						.						148.0	122.0	131.0					18																	6887212		2203	4300	6503	6877212	SO:0001583	missense	79822	exon11			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1510C>T	18.37:g.6887212C>T	ENSP00000372964:p.Pro504Ser	Somatic		Capture	SOLID	Phase_I	6877212	NM_001010000	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37		.	.	.	.	.	.	.	.	.	.	C	29.4	5.004810	0.93287	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.56	5.56	0.83823	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.210760	0.49916	D	0.000123	D	0.83608	0.5291	M	0.91354	3.2	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.983;0.998;0.995	D;D;D;D	0.74348	0.957;0.983;0.971;0.98	D	0.86313	0.1687	10	0.56958	D	0.05	.	18.3455	0.90321	0.0:1.0:0.0:0.0	.	504;336;345;452	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	S	504;452;345;340;345;345;336;327	ENSP00000382963:P504S;ENSP00000262227:P452S;ENSP00000392660:P345S;ENSP00000437262:P340S;ENSP00000313506:P345S;ENSP00000406907:P345S	ENSP00000262227:P452S	P	+	1	0	ARHGAP28	6877212	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.140000	0.71738	2.633000	0.89246	0.478000	0.44815	CCT		0.473	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108	
LAMA1	284217	hgsc.bcm.edu	37	18	6961751	6961751	+	Missense_Mutation	SNP	C	C	T	rs180910009		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:6961751C>T	ENST00000389658.3	-	53	7553	c.7460G>A	c.(7459-7461)cGg>cAg	p.R2487Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2487	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R2487Q(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCTAACACTCCGGATGGGCTG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		19736	0.001		0.0	False		,,,				2504	0.0				p.R2487Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7460A	18						.						56.0	51.0	53.0					18																	6961751		2203	4300	6503	6951751	SO:0001583	missense	284217	exon53			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7460G>A	18.37:g.6961751C>T	ENSP00000374309:p.Arg2487Gln	Somatic		Capture	SOLID	Phase_I	6951751	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.83	1.460100	0.26248	.	.	ENSG00000101680	ENST00000389658	T	0.21031	2.03	5.75	2.96	0.34315	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.266199	0.31566	N	0.007427	T	0.15003	0.0362	L	0.50333	1.59	0.32562	N	0.530941	P	0.40180	0.705	B	0.25291	0.059	T	0.15263	-1.0443	10	0.48119	T	0.1	.	10.3831	0.44123	0.0:0.6817:0.0:0.3183	.	2487	P25391	LAMA1_HUMAN	Q	2487	ENSP00000374309:R2487Q	ENSP00000374309:R2487Q	R	-	2	0	LAMA1	6951751	0.450000	0.25697	0.403000	0.26384	0.537000	0.34900	0.898000	0.28404	0.336000	0.23639	0.655000	0.94253	CGG		0.517	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
NARS	4677	hgsc.bcm.edu	37	18	55270102	55270102	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:55270102A>G	ENST00000256854.5	-	12	1780	c.1325T>C	c.(1324-1326)gTg>gCg	p.V442A	NARS_ENST00000423481.2_Missense_Mutation_p.V193A	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	442					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.V442A(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CTTGATCTCCACAGGAAATCG	0.403																																					p.V442A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1325C	18						.						121.0	102.0	109.0					18																	55270102		2203	4300	6503	53421100	SO:0001583	missense	4677	exon12			D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.1325T>C	18.37:g.55270102A>G	ENSP00000256854:p.Val442Ala	Somatic		Capture	SOLID	Phase_I	53421100	NM_004539	B4DG16|Q53GU6	Missense_Mutation	SNP	ENST00000256854.5	37	CCDS32837.1	.	.	.	.	.	.	.	.	.	.	A	5.878	0.346228	0.11126	.	.	ENSG00000134440	ENST00000256854;ENST00000423481	T;T	0.78924	-1.22;-1.22	5.99	4.82	0.62117	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.113723	0.56097	D	0.000028	T	0.41971	0.1182	N	0.01015	-1.05	0.37432	D	0.914071	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52487	-0.8569	10	0.02654	T	1	-19.4835	7.216	0.25959	0.7692:0.0:0.2308:0.0	.	193;442	B4DN60;O43776	.;SYNC_HUMAN	A	442;193	ENSP00000256854:V442A;ENSP00000407919:V193A	ENSP00000256854:V442A	V	-	2	0	NARS	53421100	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	4.882000	0.63121	2.291000	0.77112	0.533000	0.62120	GTG		0.403	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449872.2	NM_004539	
TSHZ1	10194	hgsc.bcm.edu	37	18	72999684	72999684	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr18:72999684G>A	ENST00000580243.1	+	2	2670	c.2322G>A	c.(2320-2322)ctG>ctA	p.L774L	TSHZ1_ENST00000322038.5_Silent_p.L729L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	774					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L729L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TGGCGATGCTGTACAAGATCA	0.592																																					p.L729L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2187A	18						.						50.0	48.0	48.0					18																	72999684		2203	4300	6503	71128672	SO:0001819	synonymous_variant	10194	exon2			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2322G>A	18.37:g.72999684G>A		Somatic		Capture	SOLID	Phase_I	71128672	NM_005786	O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37																																																																																					0.592	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786	
FANCD2	2177	hgsc.bcm.edu	37	3	10103846	10103846	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:10103846C>T	ENST00000419585.1	+	20	1939	c.1778C>T	c.(1777-1779)cCt>cTt	p.P593L	FANCD2_ENST00000383807.1_Missense_Mutation_p.P593L|FANCD2_ENST00000287647.3_Missense_Mutation_p.P593L|FANCD2_ENST00000383806.1_Missense_Mutation_p.P593L			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	593					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.P593L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGTGAATCACCTAGTTTGACC	0.323			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.P593L		yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1778T	3						.						55.0	58.0	57.0					3																	10103846		2203	4300	6503	10078846	SO:0001583	missense	2177	exon20	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1778C>T	3.37:g.10103846C>T	ENSP00000398754:p.Pro593Leu	Somatic		Capture	SOLID	Phase_I	10078846	NM_033084	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	7.202	0.593660	0.13875	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	4.77	3.89	0.44902	.	0.789002	0.11706	N	0.537405	T	0.28665	0.0710	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.15052	0.008;0.012	T	0.18178	-1.0345	10	0.52906	T	0.07	.	9.3952	0.38397	0.0:0.8988:0.0:0.1012	.	593;593	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	L	593	ENSP00000287647:P593L;ENSP00000373318:P593L;ENSP00000373317:P593L;ENSP00000398754:P593L	ENSP00000287647:P593L	P	+	2	0	FANCD2	10078846	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.004000	0.13106	1.330000	0.45394	0.644000	0.83932	CCT		0.323	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
TATDN2	9797	hgsc.bcm.edu	37	3	10302106	10302106	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:10302106G>A	ENST00000287652.4	+	3	1751	c.700G>A	c.(700-702)Gca>Aca	p.A234T	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.A234T	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	234					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)	p.A234T(1)		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						AGCCAAGACTGCAGAAGGAGC	0.572																																					p.A234T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G700A	3						.						52.0	50.0	51.0					3																	10302106		2203	4300	6503	10277106	SO:0001583	missense	9797	exon3			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.700G>A	3.37:g.10302106G>A	ENSP00000287652:p.Ala234Thr	Somatic		Capture	SOLID	Phase_I	10277106	NM_014760	Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	9.511	1.105713	0.20632	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.22743	1.94;1.94	1.23	1.23	0.21249	.	.	.	.	.	T	0.10078	0.0247	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.25047	-1.0143	9	0.56958	D	0.05	.	5.8496	0.18685	0.0:0.0:1.0:0.0	.	234	Q93075	TATD2_HUMAN	T	234	ENSP00000287652:A234T;ENSP00000408736:A234T	ENSP00000287652:A234T	A	+	1	0	TATDN2	10277106	0.317000	0.24589	0.002000	0.10522	0.200000	0.23975	0.000000	0.12993	0.988000	0.38734	0.561000	0.74099	GCA		0.572	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203	
TATDN2	9797	hgsc.bcm.edu	37	3	10312242	10312242	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:10312242T>C	ENST00000287652.4	+	4	2427	c.1376T>C	c.(1375-1377)gTg>gCg	p.V459A	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.V459A	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	459					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						GAAAGAGAGGTGAAGGAGAAA	0.537																																					p.V459A												.	.	0			c.T1376C	3						.						61.0	58.0	59.0					3																	10312242		2203	4300	6503	10287242	SO:0001583	missense	9797	exon4			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.1376T>C	3.37:g.10312242T>C	ENSP00000287652:p.Val459Ala	Somatic		Capture	SOLID	Phase_I	10287242	NM_014760	Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.792840	0.31685	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.33438	1.41;1.41	5.0	1.11	0.20524	.	0.574828	0.13009	N	0.421017	T	0.25457	0.0619	L	0.54323	1.7	0.24143	N	0.995724	B	0.06786	0.001	B	0.09377	0.004	T	0.21245	-1.0251	10	0.41790	T	0.15	-1.914	6.0321	0.19686	0.0:0.086:0.3173:0.5967	.	459	Q93075	TATD2_HUMAN	A	459	ENSP00000287652:V459A;ENSP00000408736:V459A	ENSP00000287652:V459A	V	+	2	0	TATDN2	10287242	0.006000	0.16342	0.617000	0.29091	0.946000	0.59487	-0.247000	0.08866	0.292000	0.22492	0.524000	0.50904	GTG		0.537	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203	
ATP2B2	491	hgsc.bcm.edu	37	3	10400558	10400558	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:10400558G>A	ENST00000352432.4	-	13	2022	c.1953C>T	c.(1951-1953)cgC>cgT	p.R651R	ATP2B2_ENST00000360273.2_Silent_p.R651R|ATP2B2_ENST00000343816.4_Silent_p.R637R|ATP2B2_ENST00000397077.1_Silent_p.R606R|ATP2B2_ENST00000383800.4_Silent_p.R606R			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	651					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.R606R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTCCCGGTCGCGGGGCCGGA	0.632																																					p.R606R	Ovarian(125;1619 1709 15675 19819 38835)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1818T	3						.						43.0	43.0	43.0					3																	10400558		2203	4300	6503	10375558	SO:0001819	synonymous_variant	491	exon11			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1953C>T	3.37:g.10400558G>A		Somatic		Capture	SOLID	Phase_I	10375558	NM_001683	O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	CCDS33701.1																																																																																				0.632	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
SLC6A11	6538	hgsc.bcm.edu	37	3	10916711	10916711	+	Silent	SNP	G	G	A	rs144481019		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:10916711G>A	ENST00000254488.2	+	6	888	c.822G>A	c.(820-822)acG>acA	p.T274T		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	274					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.T274T(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GAGGGGTCACGTTGCCCGGGG	0.557																																					p.T274T												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.G822A	3						.	G		0,4406		0,0,2203	212.0	188.0	196.0		822	-3.5	0.7	3	dbSNP_134	196	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SLC6A11	NM_014229.1		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		274/633	10916711	4,13002	2203	4300	6503	10891711	SO:0001819	synonymous_variant	6538	exon6			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.822G>A	3.37:g.10916711G>A		Somatic		Capture	SOLID	Phase_I	10891711	NM_014229	B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	CCDS2602.1																																																																																				0.557	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229	
DZIP3	9666	hgsc.bcm.edu	37	3	108363176	108363176	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:108363176A>G	ENST00000361582.3	+	14	1537	c.1307A>G	c.(1306-1308)tAc>tGc	p.Y436C	DZIP3_ENST00000463306.1_Missense_Mutation_p.Y436C	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	436					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y436C(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GAATCCTACTACAACCATCTT	0.418																																					p.Y436C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1307G	3						.						148.0	140.0	143.0					3																	108363176		2203	4300	6503	109845866	SO:0001583	missense	9666	exon14			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1307A>G	3.37:g.108363176A>G	ENSP00000355028:p.Tyr436Cys	Somatic		Capture	SOLID	Phase_I	109845866	NM_014648	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.692633	0.48202	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T	0.18338	2.22;2.22	4.39	4.39	0.52855	.	0.148607	0.31697	N	0.007215	T	0.22898	0.0553	N	0.14661	0.345	0.37052	D	0.897668	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.16630	-1.0396	10	0.72032	D	0.01	-7.0438	10.2954	0.43620	1.0:0.0:0.0:0.0	.	436;436	C9J9M8;Q86Y13	.;DZIP3_HUMAN	C	436	ENSP00000355028:Y436C;ENSP00000419981:Y436C	ENSP00000355028:Y436C	Y	+	2	0	DZIP3	109845866	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.612000	0.54142	2.199000	0.70637	0.533000	0.62120	TAC		0.418	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	
MORC1	27136	hgsc.bcm.edu	37	3	108723721	108723721	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:108723721A>G	ENST00000483760.1	-	19	2008	c.1965T>C	c.(1963-1965)gcT>gcC	p.A655A	MORC1_ENST00000232603.5_Silent_p.A676A					MORC family CW-type zinc finger 1									p.A676A(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGGTAATATTAGCAATCTGAC	0.353																																					p.A676A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2028C	3						.						143.0	160.0	154.0					3																	108723721		2203	4300	6503	110206411	SO:0001819	synonymous_variant	27136	exon20			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1965T>C	3.37:g.108723721A>G		Somatic		Capture	SOLID	Phase_I	110206411	NM_014429		Silent	SNP	ENST00000483760.1	37																																																																																					0.353	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
DPPA2	151871	hgsc.bcm.edu	37	3	109023516	109023516	+	Splice_Site	SNP	G	G	A	rs377013186		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:109023516G>A	ENST00000478945.1	-	7	906	c.660C>T	c.(658-660)ggC>ggT	p.G220G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	220					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.G220G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCACCTGACGCCTGGAAAGG	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18449	0.0		0.0	False		,,,				2504	0.0				p.G220G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C660T	3						.	G		1,4405	2.1+/-5.4	0,1,2202	53.0	52.0	52.0		660	-5.8	0.0	3		52	0,8600		0,0,4300	no	coding-synonymous-near-splice	DPPA2	NM_138815.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		220/299	109023516	1,13005	2203	4300	6503	110506206	SO:0001630	splice_region_variant	151871	exon7			AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.659-1C>T	3.37:g.109023516G>A		Somatic		Capture	SOLID	Phase_I	110506206	NM_138815	Q8WVF0	Silent	SNP	ENST00000478945.1	37	CCDS2956.1																																																																																				0.498	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815	Silent
BTLA	151888	hgsc.bcm.edu	37	3	112188625	112188625	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:112188625C>T	ENST00000334529.5	-	4	776	c.574G>A	c.(574-576)Gca>Aca	p.A192T	BTLA_ENST00000383680.4_Missense_Mutation_p.A144T|BTLA_ENST00000474965.1_5'UTR	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	192					immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A192T(1)		breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TCCCTTCCTGCTGTGTCAGAG	0.343																																					p.A192T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G574A	3						.						165.0	159.0	161.0					3																	112188625		2202	4300	6502	113671315	SO:0001583	missense	151888	exon4			AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.574G>A	3.37:g.112188625C>T	ENSP00000333919:p.Ala192Thr	Somatic		Capture	SOLID	Phase_I	113671315	NM_181780	Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP	ENST00000334529.5	37	CCDS33819.1	.	.	.	.	.	.	.	.	.	.	C	0.398	-0.920052	0.02396	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	T;T	0.35789	1.86;1.29	4.12	-2.82	0.05787	.	1.711210	0.03392	N	0.202093	T	0.20700	0.0498	N	0.12569	0.235	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.18272	-1.0342	10	0.40728	T	0.16	2.9507	6.6187	0.22790	0.0:0.4001:0.1244:0.4755	.	144;192	Q7Z6A9-2;Q7Z6A9	.;BTLA_HUMAN	T	192;144	ENSP00000333919:A192T;ENSP00000373178:A144T	ENSP00000333919:A192T	A	-	1	0	BTLA	113671315	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.746000	0.04829	-0.977000	0.03537	-0.797000	0.03246	GCA		0.343	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354101.1	NM_181780	
BOC	91653	hgsc.bcm.edu	37	3	112969578	112969578	+	Missense_Mutation	SNP	G	G	A	rs551152491		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:112969578G>A	ENST00000495514.1	+	4	978	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	BOC_ENST00000355385.3_Missense_Mutation_p.V92I|BOC_ENST00000273395.4_Missense_Mutation_p.V92I|BOC_ENST00000485230.1_Missense_Mutation_p.V92I|BOC_ENST00000484034.1_Missense_Mutation_p.V92I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	92	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.V92I(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CGGGACCCTCGTCATCACTGC	0.602													g|||	0	0.0	0.0	0.0	5008	,	,		18922	0.0		0.0	False		,,,				2504	0.0				p.V92I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G274A	3						.						113.0	107.0	109.0					3																	112969578		2203	4300	6503	114452268	SO:0001583	missense	91653	exon4			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.274G>A	3.37:g.112969578G>A	ENSP00000418663:p.Val92Ile	Somatic		Capture	SOLID	Phase_I	114452268	NM_033254	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	g	11.61	1.690712	0.29962	.	.	ENSG00000144857	ENST00000495514;ENST00000485230;ENST00000273395;ENST00000355385;ENST00000484034	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	5.83	2.96	0.34315	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.351440	0.27181	N	0.020548	T	0.08492	0.0211	L	0.31752	0.955	0.20638	N	0.999875	B;B;B	0.13145	0.005;0.001;0.007	B;B;B	0.12156	0.005;0.005;0.007	T	0.31447	-0.9943	9	.	.	.	.	5.6664	0.17697	0.271:0.1431:0.5858:0.0	.	92;92;92	Q9BWV1-3;Q9BWV1;Q96DN7	.;BOC_HUMAN;.	I	92	ENSP00000418663:V92I;ENSP00000420154:V92I;ENSP00000273395:V92I;ENSP00000347546:V92I;ENSP00000417337:V92I	.	V	+	1	0	BOC	114452268	0.002000	0.14202	0.730000	0.30809	0.951000	0.60555	-0.092000	0.11129	0.827000	0.34685	-0.142000	0.14014	GTC		0.602	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254	
TIGIT	201633	hgsc.bcm.edu	37	3	114014682	114014682	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:114014682T>C	ENST00000486257.1	+	3	609	c.352T>C	c.(352-354)Tac>Cac	p.Y118H	TIGIT_ENST00000481065.1_Missense_Mutation_p.Y185H|TIGIT_ENST00000383671.3_Missense_Mutation_p.Y118H			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	118	Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.Y118H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TGATGGGACGTACACTGGGAG	0.547																																					p.Y118H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T352C	3						.						81.0	78.0	79.0					3																	114014682		2203	4300	6503	115497372	SO:0001583	missense	201633	exon2			AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.352T>C	3.37:g.114014682T>C	ENSP00000419085:p.Tyr118His	Somatic		Capture	SOLID	Phase_I	115497372	NM_173799	Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.471060	0.43942	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.71	4.71	0.59529	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000166	T	0.55561	0.1928	L	0.57536	1.79	0.36997	D	0.895051	D	0.89917	1.0	D	0.97110	1.0	T	0.56998	-0.7886	10	0.20519	T	0.43	-13.4901	10.7472	0.46187	0.0:0.0:0.0:1.0	.	118	Q495A1	TIGIT_HUMAN	H	97;185;118;118;97	ENSP00000418917:Y97H;ENSP00000420552:Y185H;ENSP00000419085:Y118H;ENSP00000373167:Y118H;ENSP00000419706:Y97H	ENSP00000373167:Y118H	Y	+	1	0	TIGIT	115497372	1.000000	0.71417	0.968000	0.41197	0.104000	0.19210	3.669000	0.54561	2.124000	0.65301	0.459000	0.35465	TAC		0.547	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799	
GAP43	2596	hgsc.bcm.edu	37	3	115342549	115342549	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:115342549A>G	ENST00000305124.6	+	1	379	c.13A>G	c.(13-15)Atg>Gtg	p.M5V	GAP43_ENST00000393780.3_5'UTR	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	5					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.M5V(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GCTGTGCTGTATGAGAAGAAC	0.433																																					p.M5V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A13G	3						.						209.0	192.0	197.0					3																	115342549		2203	4300	6503	116825239	SO:0001583	missense	2596	exon1				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.13A>G	3.37:g.115342549A>G	ENSP00000305010:p.Met5Val	Somatic		Capture	SOLID	Phase_I	116825239	NM_002045	A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	A	9.731	1.162194	0.21538	.	.	ENSG00000172020	ENST00000305124	T	0.26660	1.72	4.33	4.33	0.51752	Neuromodulin gap junction N-terminal (1);	.	.	.	.	T	0.22085	0.0532	N	0.19112	0.55	0.80722	D	1	B	0.34349	0.45	B	0.40444	0.329	T	0.10405	-1.0631	9	0.52906	T	0.07	.	13.6415	0.62253	1.0:0.0:0.0:0.0	.	5	P17677	NEUM_HUMAN	V	5	ENSP00000305010:M5V	ENSP00000305010:M5V	M	+	1	0	GAP43	116825239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.682000	0.84083	1.812000	0.52913	0.455000	0.32223	ATG		0.433	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045	
B4GALT4	8702	hgsc.bcm.edu	37	3	118937520	118937520	+	Silent	SNP	G	G	A	rs183964259		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:118937520G>A	ENST00000483209.1	-	6	1415	c.774C>T	c.(772-774)ggC>ggT	p.G258G	B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Silent_p.G258G|B4GALT4_ENST00000467604.1_Silent_p.G258G|B4GALT4_ENST00000359213.3_Silent_p.G258G|B4GALT4_ENST00000460321.1_Intron			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	258	N-acetyl-D-glucosamine binding. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.G258G(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CATCGTCTTCGCCTCCCCATC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		19866	0.001		0.0	False		,,,				2504	0.0				p.G258G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C774T	3						.	G	,	0,4406		0,0,2203	153.0	146.0	148.0		774,774	1.6	1.0	3		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	B4GALT4	NM_003778.3,NM_212543.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	258/345,258/345	118937520	1,13005	2203	4300	6503	120420210	SO:0001819	synonymous_variant	8702	exon6			AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.774C>T	3.37:g.118937520G>A		Somatic		Capture	SOLID	Phase_I	120420210	NM_003778	Q68D68|Q9BSW3|Q9C078	Silent	SNP	ENST00000483209.1	37	CCDS2986.1																																																																																				0.488	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778	
TIMMDC1	51300	hgsc.bcm.edu	37	3	119222394	119222394	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:119222394G>A	ENST00000494664.1	+	3	578	c.376G>A	c.(376-378)Gct>Act	p.A126T	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	126						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A126T(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						TGCACATCGTGCTGCCACACG	0.408																																					p.A126T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G376A	3						.						65.0	64.0	65.0					3																	119222394		2203	4300	6503	120705084	SO:0001583	missense	51300	exon3			AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.376G>A	3.37:g.119222394G>A	ENSP00000418803:p.Ala126Thr	Somatic		Capture	SOLID	Phase_I	120705084	NM_016589	D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	ENST00000494664.1	37	CCDS33831.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439544	0.63067	.	.	ENSG00000113845	ENST00000494664	T	0.32023	1.47	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.59810	-0.7384	10	0.66056	D	0.02	-14.8696	15.0925	0.72207	0.0:0.0:1.0:0.0	.	126	Q9NPL8	TIDC1_HUMAN	T	126	ENSP00000418803:A126T	ENSP00000264244:A126T	A	+	1	0	TIMMDC1	120705084	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	6.412000	0.73303	2.640000	0.89533	0.462000	0.41574	GCT		0.408	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589	
GPR156	165829	hgsc.bcm.edu	37	3	119886447	119886447	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:119886447C>T	ENST00000464295.1	-	10	2322	c.1877G>A	c.(1876-1878)aGg>aAg	p.R626K	GPR156_ENST00000315843.3_Missense_Mutation_p.R626K|GPR156_ENST00000461057.1_Missense_Mutation_p.R622K			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	626						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.R626K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGGAACAGTCCTGTTTGCCCG	0.597																																					p.R622K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1865A	3						.						47.0	49.0	48.0					3																	119886447		2203	4300	6503	121369137	SO:0001583	missense	165829	exon9			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1877G>A	3.37:g.119886447C>T	ENSP00000417261:p.Arg626Lys	Somatic		Capture	SOLID	Phase_I	121369137	NM_001168271	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	7.817	0.716907	0.15306	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.22539	1.95;1.95;1.95	5.03	0.936	0.19488	.	0.528177	0.19402	N	0.115153	T	0.12263	0.0298	L	0.31926	0.97	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	T	0.24941	-1.0146	9	.	.	.	-2.1607	5.3293	0.15924	0.136:0.5364:0.0:0.3277	.	622;626	E9PFZ4;Q8NFN8	.;GP156_HUMAN	K	626;626;622	ENSP00000417261:R626K;ENSP00000324553:R626K;ENSP00000418758:R622K	.	R	-	2	0	GPR156	121369137	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.117000	0.10708	0.306000	0.22856	0.563000	0.77884	AGG		0.597	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	
HCLS1	3059	hgsc.bcm.edu	37	3	121354599	121354599	+	Missense_Mutation	SNP	G	G	A	rs144589441	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:121354599G>A	ENST00000314583.3	-	9	765	c.674C>T	c.(673-675)aCg>aTg	p.T225M	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.T188M	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	225					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.T225M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TATGGGCGTCGTCTTCTTATA	0.537																																					p.T225M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C674T	3						.	G	MET/THR	5,4401	9.9+/-24.2	0,5,2198	118.0	123.0	121.0		674	4.8	1.0	3	dbSNP_134	121	0,8600		0,0,4300	yes	missense	HCLS1	NM_005335.4	81	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging	225/487	121354599	5,13001	2203	4300	6503	122837289	SO:0001583	missense	3059	exon9				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.674C>T	3.37:g.121354599G>A	ENSP00000320176:p.Thr225Met	Somatic		Capture	SOLID	Phase_I	122837289	NM_005335	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338424	0.95783	0.001135	0.0	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.22539	1.96;1.95	4.76	4.76	0.60689	.	0.045338	0.85682	D	0.000000	T	0.46249	0.1383	M	0.69523	2.12	0.49051	D	0.999749	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.44498	-0.9324	10	0.72032	D	0.01	-13.5507	15.6436	0.77029	0.0:0.0:1.0:0.0	.	188;225	E7EVW7;P14317	.;HCLS1_HUMAN	M	225;188	ENSP00000320176:T225M;ENSP00000387645:T188M	ENSP00000320176:T225M	T	-	2	0	HCLS1	122837289	1.000000	0.71417	0.996000	0.52242	0.917000	0.54804	7.689000	0.84165	2.624000	0.88883	0.655000	0.94253	ACG		0.537	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335	
GOLGB1	2804	hgsc.bcm.edu	37	3	121414380	121414380	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:121414380C>T	ENST00000340645.5	-	13	5100	c.4975G>A	c.(4975-4977)Gag>Aag	p.E1659K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E1664K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1659					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E1659K(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTTCTGTCTCCTTCTTGTTT	0.408																																					p.E1659K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4975A	3						.						248.0	246.0	247.0					3																	121414380		2203	4300	6503	122897070	SO:0001583	missense	2804	exon13			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4975G>A	3.37:g.121414380C>T	ENSP00000341848:p.Glu1659Lys	Somatic		Capture	SOLID	Phase_I	122897070	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199504	0.58126	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.26957	2.34;2.34;1.7	5.37	5.37	0.77165	.	0.271838	0.26265	N	0.025376	T	0.46151	0.1378	M	0.64997	1.995	0.58432	D	0.999993	D;D;D;D;D	0.69078	0.972;0.997;0.972;0.992;0.982	P;D;P;P;P	0.65443	0.616;0.935;0.616;0.891;0.72	T	0.17137	-1.0379	10	0.26408	T	0.33	.	16.5953	0.84794	0.0:1.0:0.0:0.0	.	1584;1623;1664;1664;1659	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	K	1659;1664;1623	ENSP00000341848:E1659K;ENSP00000377275:E1664K;ENSP00000418231:E1623K	ENSP00000341848:E1659K	E	-	1	0	GOLGB1	122897070	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.487000	0.81328	2.499000	0.84300	0.462000	0.41574	GAG		0.408	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
PPARG	5468	hgsc.bcm.edu	37	3	12458286	12458286	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:12458286G>A	ENST00000287820.6	+	6	1024	c.903G>A	c.(901-903)caG>caA	p.Q301Q	PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397015.2_Silent_p.Q273Q|PPARG_ENST00000397010.2_Silent_p.Q273Q|PPARG_ENST00000397012.2_Silent_p.Q273Q|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397026.2_Silent_p.Q279Q|PPARG_ENST00000309576.6_Silent_p.Q273Q	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	301					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TGCAGGAGCAGAGCAAAGAGG	0.478			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																														p.Q301Q			Dom	yes		3	3p25	5468	"""peroxisome proliferative activated receptor, gamma"""	yes	E	.	.	0			c.G903A	3						.						76.0	73.0	74.0					3																	12458286		2203	4300	6503	12433286	SO:0001819	synonymous_variant	5468	exon6			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.903G>A	3.37:g.12458286G>A		Somatic		Capture	SOLID	Phase_I	12433286	NM_015869	A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Silent	SNP	ENST00000287820.6	37	CCDS2609.1																																																																																				0.478	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037	
CSTA	1475	hgsc.bcm.edu	37	3	122060311	122060311	+	Missense_Mutation	SNP	T	T	C	rs369153947		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:122060311T>C	ENST00000264474.3	+	3	243	c.194T>C	c.(193-195)aTg>aCg	p.M65T		NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)	65					keratinocyte differentiation (GO:0030216)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|peptide cross-linking (GO:0018149)|single organismal cell-cell adhesion (GO:0016337)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.M65T(1)		large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		AATAAATATATGCACTTGAAA	0.393																																					p.M65T	Pancreas(26;157 1503 12440)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T194C	3						.	T	THR/MET	1,4405	2.1+/-5.4	0,1,2202	96.0	99.0	98.0		194	2.5	0.1	3		98	0,8600		0,0,4300	no	missense	CSTA	NM_005213.3	81	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	65/99	122060311	1,13005	2203	4300	6503	123543001	SO:0001583	missense	1475	exon3				CCDS3011.1	3q21	2008-04-15			ENSG00000121552	ENSG00000121552			2481	protein-coding gene	gene with protein product		184600		STF1, STFA		1674139	Standard	NM_005213		Approved		uc003eex.3	P01040	OTTHUMG00000159488	ENST00000264474.3:c.194T>C	3.37:g.122060311T>C	ENSP00000264474:p.Met65Thr	Somatic		Capture	SOLID	Phase_I	123543001	NM_005213	Q6IB90	Missense_Mutation	SNP	ENST00000264474.3	37	CCDS3011.1	.	.	.	.	.	.	.	.	.	.	T	8.945	0.966812	0.18659	2.27E-4	0.0	ENSG00000121552	ENST00000264474	T	0.23348	1.91	5.33	2.45	0.29901	Proteinase inhibitor I25, cystatin (2);	0.359170	0.32055	N	0.006645	T	0.16938	0.0407	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16660	-1.0395	9	0.56958	D	0.05	-4.4922	6.3779	0.21517	0.0:0.257:0.0:0.743	.	65	P01040	CYTA_HUMAN	T	65	ENSP00000264474:M65T	ENSP00000264474:M65T	M	+	2	0	CSTA	123543001	0.010000	0.17322	0.077000	0.20336	0.014000	0.08584	1.758000	0.38410	0.817000	0.34445	0.528000	0.53228	ATG		0.393	CSTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355751.1	NM_005213	
TSEN2	80746	hgsc.bcm.edu	37	3	12560594	12560594	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:12560594A>G	ENST00000284995.6	+	8	1384	c.997A>G	c.(997-999)Act>Gct	p.T333A	TSEN2_ENST00000415684.1_Missense_Mutation_p.T307A|TSEN2_ENST00000454502.2_Missense_Mutation_p.T274A|TSEN2_ENST00000314571.7_Missense_Mutation_p.T307A|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000402228.3_Missense_Mutation_p.T333A|TSEN2_ENST00000444864.1_Missense_Mutation_p.T307A|TSEN2_ENST00000383797.5_Missense_Mutation_p.T316A	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	333					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)	p.T333A(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GAAAGCTTTCACTGTAGTTCA	0.443																																					p.T333A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A997G	3						.						119.0	110.0	113.0					3																	12560594		2203	4300	6503	12535594	SO:0001583	missense	80746	exon8			BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.997A>G	3.37:g.12560594A>G	ENSP00000284995:p.Thr333Ala	Somatic		Capture	SOLID	Phase_I	12535594	NM_025265	B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.105660	0.56291	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.55760	0.5;0.57;0.54;0.6;0.52;0.52;0.56;0.57	5.39	-4.9	0.03094	.	0.565495	0.19483	N	0.113174	T	0.28366	0.0701	N	0.11927	0.2	0.27810	N	0.942173	B;B;B;B	0.28178	0.202;0.128;0.202;0.128	B;B;B;B	0.36567	0.228;0.101;0.228;0.101	T	0.40251	-0.9573	10	0.12103	T	0.63	-2.1501	9.2759	0.37698	0.4011:0.4148:0.0:0.1842	.	307;333;307;274	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	A	333;307;274;316;333;333;307;306;307	ENSP00000406238:T333A;ENSP00000323188:T307A;ENSP00000392029:T274A;ENSP00000373307:T316A;ENSP00000385976:T333A;ENSP00000284995:T333A;ENSP00000407974:T307A;ENSP00000416510:T307A	ENSP00000284995:T333A	T	+	1	0	TSEN2	12535594	0.434000	0.25570	0.020000	0.16555	0.934000	0.57294	0.600000	0.24104	-0.552000	0.06167	-0.490000	0.04691	ACT		0.443	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265	
MYLK	4638	hgsc.bcm.edu	37	3	123451830	123451830	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:123451830C>T	ENST00000475616.1	-	8	1428	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	MYLK_ENST00000346322.5_Intron|MYLK_ENST00000359169.1_Missense_Mutation_p.A477T|MYLK_ENST00000360772.3_Missense_Mutation_p.A477T|MYLK_ENST00000360304.3_Missense_Mutation_p.A477T			Q15746	MYLK_HUMAN	myosin light chain kinase	477	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.A477T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGGTCCGGGCTTTCAGCAGG	0.572																																					p.A477T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1429A	3						.						85.0	72.0	76.0					3																	123451830		2203	4300	6503	124934520	SO:0001583	missense	4638	exon11			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1429G>A	3.37:g.123451830C>T	ENSP00000418335:p.Ala477Thr	Somatic		Capture	SOLID	Phase_I	124934520	NM_053025	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532700	0.64972	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000475616	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.29	3.47	0.39725	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65471	0.2694	L	0.48877	1.53	0.32608	N	0.525014	P;P;P	0.45283	0.825;0.787;0.855	B;B;P	0.46975	0.42;0.322;0.533	T	0.67405	-0.5679	9	0.32370	T	0.25	.	6.888	0.24214	0.0:0.692:0.1479:0.1601	.	477;477;477	Q15746-6;Q15746-3;Q15746	.;.;MYLK_HUMAN	T	477	ENSP00000354004:A477T;ENSP00000353452:A477T;ENSP00000352088:A477T;ENSP00000418335:A477T	ENSP00000352088:A477T	A	-	1	0	MYLK	124934520	0.961000	0.32948	0.219000	0.23793	0.930000	0.56654	1.137000	0.31479	0.776000	0.33473	0.655000	0.94253	GCC		0.572	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	
KALRN	8997	hgsc.bcm.edu	37	3	123987863	123987863	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:123987863G>A	ENST00000240874.3	+	5	881	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	KALRN_ENST00000460856.1_Missense_Mutation_p.V242M|KALRN_ENST00000360013.3_Missense_Mutation_p.V242M	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	242					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAAGGCCCCTGTGGAGGAGCT	0.622																																					p.V242M												.	.	0			c.G724A	3						.						22.0	22.0	22.0					3																	123987863		2202	4300	6502	125470553	SO:0001583	missense	8997	exon5			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.724G>A	3.37:g.123987863G>A	ENSP00000240874:p.Val242Met	Somatic		Capture	SOLID	Phase_I	125470553	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137585	0.94517	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.41065	1.01;1.01;1.01	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.66396	0.2785	M	0.75264	2.295	0.80722	D	1	D;D;D	0.71674	0.957;0.998;0.986	P;D;D	0.78314	0.786;0.991;0.94	T	0.64812	-0.6319	10	0.46703	T	0.11	.	19.5125	0.95148	0.0:0.0:1.0:0.0	.	242;242;242	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	M	242	ENSP00000418611:V242M;ENSP00000240874:V242M;ENSP00000353109:V242M	ENSP00000240874:V242M	V	+	1	0	KALRN	125470553	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.696000	0.61774	2.840000	0.97914	0.655000	0.94253	GTG		0.622	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
NUP210	23225	hgsc.bcm.edu	37	3	13383275	13383275	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:13383275T>C	ENST00000254508.5	-	23	3283	c.3201A>G	c.(3199-3201)agA>agG	p.R1067R	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1067					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTGAGTTGATTCTCTGTCCAG	0.507																																					p.R1067R												.	.	0			c.A3201G	3						.						185.0	150.0	162.0					3																	13383275		2203	4300	6503	13358275	SO:0001819	synonymous_variant	23225	exon23			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3201A>G	3.37:g.13383275T>C		Somatic		Capture	SOLID	Phase_I	13358275	NM_024923	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	CCDS33704.1																																																																																				0.507	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923	
NUP210	23225	hgsc.bcm.edu	37	3	13383295	13383295	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:13383295T>C	ENST00000254508.5	-	23	3263	c.3181A>G	c.(3181-3183)Acc>Gcc	p.T1061A	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1061					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.T1061A(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCTTTATTGGTCACACTTGCA	0.532																																					p.T1061A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3181G	3						.						180.0	146.0	157.0					3																	13383295		2203	4300	6503	13358295	SO:0001583	missense	23225	exon23			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3181A>G	3.37:g.13383295T>C	ENSP00000254508:p.Thr1061Ala	Somatic		Capture	SOLID	Phase_I	13358295	NM_024923	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.400626	0.01165	.	.	ENSG00000132182	ENST00000254508	T	0.04970	3.52	5.64	1.78	0.24846	.	0.550372	0.19795	N	0.105881	T	0.03871	0.0109	L	0.29908	0.895	0.09310	N	0.999999	B	0.13145	0.007	B	0.09377	0.004	T	0.45716	-0.9242	10	0.13108	T	0.6	-7.2223	5.2226	0.15377	0.1325:0.1504:0.0:0.7171	.	1061	Q8TEM1	PO210_HUMAN	A	1061	ENSP00000254508:T1061A	ENSP00000254508:T1061A	T	-	1	0	NUP210	13358295	0.877000	0.30153	0.180000	0.23079	0.004000	0.04260	1.372000	0.34261	0.430000	0.26230	-0.379000	0.06801	ACC		0.532	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923	
ASTE1	28990	hgsc.bcm.edu	37	3	130743226	130743226	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:130743226A>T	ENST00000264992.3	-	3	1366	c.925T>A	c.(925-927)Ttc>Atc	p.F309I	ASTE1_ENST00000514044.1_Missense_Mutation_p.F309I|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000510688.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	309					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CACTGGAAGAAGTCCTGTAGC	0.428																																					p.F309I												.	.	0			c.T925A	3						.						128.0	124.0	125.0					3																	130743226		2203	4300	6503	132225916	SO:0001583	missense	28990	exon3			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.925T>A	3.37:g.130743226A>T	ENSP00000264992:p.Phe309Ile	Somatic		Capture	SOLID	Phase_I	132225916	NM_014065	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	A	19.33	3.806748	0.70682	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270	.	.	.	5.64	5.64	0.86602	.	0.143021	0.64402	D	0.000003	T	0.65059	0.2655	L	0.55103	1.725	0.41058	D	0.985359	P;P	0.51791	0.948;0.948	P;P	0.54499	0.754;0.754	T	0.62172	-0.6910	9	0.25751	T	0.34	-23.0713	15.8745	0.79151	1.0:0.0:0.0:0.0	.	309;309	D6RG30;Q2TB18	.;ASTE1_HUMAN	I	309	.	ENSP00000264992:F309I	F	-	1	0	ASTE1	132225916	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.754000	0.62191	2.151000	0.67156	0.459000	0.35465	TTC		0.428	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065	
FAIM	55179	hgsc.bcm.edu	37	3	138340292	138340292	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:138340292T>C	ENST00000393035.2	+	2	131	c.22T>C	c.(22-24)Tgg>Cgg	p.W8R	FAIM_ENST00000338446.4_Missense_Mutation_p.W42R|FAIM_ENST00000360570.3_Missense_Mutation_p.W30R|FAIM_ENST00000393034.2_Missense_Mutation_p.W8R|FAIM_ENST00000464668.1_Missense_Mutation_p.W8R	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	8					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						CGTAGCTGTTTGGGATGTTGC	0.368																																					p.W8R												.	.	0			c.T22C	3						.						130.0	128.0	129.0					3																	138340292		2203	4300	6503	139822982	SO:0001583	missense	55179	exon2			AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.22T>C	3.37:g.138340292T>C	ENSP00000376755:p.Trp8Arg	Somatic		Capture	SOLID	Phase_I	139822982	NM_018147	Q6IAN2	Missense_Mutation	SNP	ENST00000393035.2	37	CCDS3103.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617786	0.66787	.	.	ENSG00000158234	ENST00000338446;ENST00000360570;ENST00000393035;ENST00000393034;ENST00000464668;ENST00000479848	T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.89785	3.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81284	-0.1002	10	0.87932	D	0	-4.8316	12.4447	0.55645	0.0:0.0:0.0:1.0	.	8;30;42;8	Q9NVQ4;Q9NVQ4-3;Q9NVQ4-2;C9JDZ2	FAIM1_HUMAN;.;.;.	R	42;30;8;8;8;8	ENSP00000342805:W42R;ENSP00000353775:W30R;ENSP00000376755:W8R;ENSP00000376754:W8R;ENSP00000417642:W8R;ENSP00000420543:W8R	ENSP00000342805:W42R	W	+	1	0	FAIM	139822982	1.000000	0.71417	0.935000	0.37517	0.621000	0.37620	7.778000	0.85637	2.105000	0.64084	0.383000	0.25322	TGG		0.368	FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357979.1	NM_001033032	
RBP1	5947	hgsc.bcm.edu	37	3	139257751	139257751	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:139257751C>T	ENST00000483943.2	-	2	310	c.310G>A	c.(310-312)Gag>Aag	p.E104K	RP11-319G6.1_ENST00000381790.3_RNA|RBP1_ENST00000232219.2_Missense_Mutation_p.E104K|RBP1_ENST00000492918.1_Missense_Mutation_p.E104K|RP11-319G6.1_ENST00000515247.1_RNA	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	42					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.E42K(1)		endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	TGCACGATCTCTTTGTCTGGC	0.542																																					p.E104K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310A	3						.						216.0	181.0	192.0					3																	139257751		2203	4300	6503	140740441	SO:0001583	missense	5947	exon2				CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"""Fatty acid binding protein family"""	9919	protein-coding gene	gene with protein product		180260	"""retinol-binding protein 1, cellular"""			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.310G>A	3.37:g.139257751C>T	ENSP00000424813:p.Glu104Lys	Somatic		Capture	SOLID	Phase_I	140740441	NM_001130993	A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Missense_Mutation	SNP	ENST00000483943.2	37	CCDS46925.1	.	.	.	.	.	.	.	.	.	.	C	36	5.639489	0.96693	.	.	ENSG00000114115	ENST00000232219;ENST00000483943;ENST00000492918	T;T;T	0.26373	1.74;1.74;1.74	5.15	5.15	0.70609	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.64402	D	0.000001	T	0.54224	0.1845	M	0.87381	2.88	0.80722	D	1	D;D;P	0.67145	0.971;0.996;0.819	P;D;P	0.67231	0.811;0.95;0.571	T	0.55927	-0.8063	10	0.21540	T	0.41	.	17.6091	0.88047	0.0:1.0:0.0:0.0	.	104;104;42	F2Z2F2;E7EWV0;P09455	.;.;RET1_HUMAN	K	104	ENSP00000232219:E104K;ENSP00000424813:E104K;ENSP00000429166:E104K	ENSP00000232219:E104K	E	-	1	0	RBP1	140740441	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.696000	0.84270	2.386000	0.81285	0.455000	0.32223	GAG		0.542	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	NM_002899	
CLSTN2	64084	hgsc.bcm.edu	37	3	140265438	140265438	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:140265438A>G	ENST00000458420.3	+	10	1779	c.1589A>G	c.(1588-1590)gAa>gGa	p.E530G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	530					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCAAAATGGAAAGCCAGAAG	0.507										HNSCC(16;0.037)																											p.E530G	GBM(45;858 913 3709 36904 37282)											.	.	0			c.A1589G	3						.						58.0	56.0	56.0					3																	140265438		2203	4300	6503	141748128	SO:0001583	missense	64084	exon10			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1589A>G	3.37:g.140265438A>G	ENSP00000402460:p.Glu530Gly	Somatic		Capture	SOLID	Phase_I	141748128	NM_022131	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.413482	0.62511	.	.	ENSG00000158258	ENST00000458420	T	0.50277	0.75	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);	0.158356	0.56097	D	0.000035	T	0.50718	0.1632	M	0.76838	2.35	0.52501	D	0.999953	P	0.43578	0.811	B	0.40825	0.341	T	0.55933	-0.8062	9	.	.	.	-11.9298	13.0261	0.58817	1.0:0.0:0.0:0.0	.	530	Q9H4D0	CSTN2_HUMAN	G	530	ENSP00000402460:E530G	.	E	+	2	0	CLSTN2	141748128	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	1.958000	0.56883	0.374000	0.22700	GAA		0.507	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
PLS1	5357	hgsc.bcm.edu	37	3	142408636	142408636	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:142408636C>T	ENST00000337777.3	+	10	1371	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	PLS1_ENST00000457734.2_Silent_p.I386I|PLS1_ENST00000497002.1_Silent_p.I386I	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	386	Actin-binding 2.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.I386I(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ATAATGACATCGATATGAATT	0.373																																					p.I386I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1158T	3						.						128.0	124.0	125.0					3																	142408636		2203	4300	6503	143891326	SO:0001819	synonymous_variant	5357	exon10			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1158C>T	3.37:g.142408636C>T		Somatic		Capture	SOLID	Phase_I	143891326	NM_002670	A8K2Q1|D3DNG3|Q8NEG6	Silent	SNP	ENST00000337777.3	37	CCDS3125.1																																																																																				0.373	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670	
SLC6A6	6533	hgsc.bcm.edu	37	3	14523276	14523276	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:14523276C>T	ENST00000454876.2	+	14	1978	c.1649C>T	c.(1648-1650)gCc>gTc	p.A550V	SLC6A6_ENST00000360861.3_Missense_Mutation_p.A550V			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	550					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)	p.A550V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TGGAGCCTGGCCCTTTCCTCC	0.592																																					p.A550V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1649T	3						.						133.0	116.0	122.0					3																	14523276		2203	4300	6503	14498280	SO:0001583	missense	6533	exon14				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1649C>T	3.37:g.14523276C>T	ENSP00000398063:p.Ala550Val	Somatic		Capture	SOLID	Phase_I	14498280	NM_003043	B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122586	0.94429	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.74106	-0.81;-0.81	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.72479	2.2	0.80722	D	1	D	0.60575	0.988	P	0.61722	0.893	D	0.86618	0.1877	10	0.72032	D	0.01	.	17.5816	0.87970	0.0:1.0:0.0:0.0	.	550	P31641	SC6A6_HUMAN	V	550	ENSP00000398063:A550V;ENSP00000354107:A550V	ENSP00000354107:A550V	A	+	2	0	SLC6A6	14498280	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.768000	0.85345	2.203000	0.70933	0.460000	0.39030	GCC		0.592	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043	
PCOLCE2	26577	hgsc.bcm.edu	37	3	142539794	142539794	+	Missense_Mutation	SNP	G	G	A	rs375192412		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:142539794G>A	ENST00000295992.3	-	8	1349	c.1043C>T	c.(1042-1044)gCg>gTg	p.A348V	PCOLCE2_ENST00000485766.1_Silent_p.G268G	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	348	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.A348V(2)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTGCTGAATCGCCAAATTTCC	0.522																																					p.A348V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1043T	3						.	G	VAL/ALA	0,4406		0,0,2203	124.0	110.0	114.0		1043	5.6	1.0	3		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCOLCE2	NM_013363.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	348/416	142539794	1,13005	2203	4300	6503	144022484	SO:0001583	missense	26577	exon8			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.1043C>T	3.37:g.142539794G>A	ENSP00000295992:p.Ala348Val	Somatic		Capture	SOLID	Phase_I	144022484	NM_013363	B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453592	0.96223	0.0	1.16E-4	ENSG00000163710	ENST00000295992	T	0.32272	1.46	5.64	5.64	0.86602	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.45478	0.1344	M	0.73962	2.25	0.80722	D	1	P	0.52061	0.95	P	0.48030	0.564	T	0.37526	-0.9702	10	0.36615	T	0.2	-12.213	19.6912	0.96002	0.0:0.0:1.0:0.0	.	348	Q9UKZ9	PCOC2_HUMAN	V	348	ENSP00000295992:A348V	ENSP00000295992:A348V	A	-	2	0	PCOLCE2	144022484	1.000000	0.71417	0.976000	0.42696	0.962000	0.63368	9.410000	0.97335	2.641000	0.89580	0.655000	0.94253	GCG		0.522	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363	
ZIC4	84107	hgsc.bcm.edu	37	3	147113874	147113874	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:147113874C>T	ENST00000383075.3	-	3	965	c.453G>A	c.(451-453)atG>atA	p.M151I	ZIC4_ENST00000425731.3_Missense_Mutation_p.M189I|ZIC4_ENST00000484399.1_Missense_Mutation_p.M151I|ZIC4_ENST00000525172.2_Missense_Mutation_p.M201I|ZIC4_ENST00000473123.1_Missense_Mutation_p.M151I|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	151						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M151I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CCAGCTCGTGCATGGTGCTGA	0.642																																					p.M201I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G603A	3						.						81.0	89.0	86.0					3																	147113874		2203	4300	6503	148596564	SO:0001583	missense	84107	exon3			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.453G>A	3.37:g.147113874C>T	ENSP00000372553:p.Met151Ile	Somatic		Capture	SOLID	Phase_I	148596564	NM_001168378	A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147576	0.94603	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.56097	D	0.000031	T	0.62233	0.2411	M	0.79343	2.45	0.80722	D	1	P;D	0.54047	0.764;0.964	P;D	0.65874	0.688;0.939	T	0.65635	-0.6120	10	0.59425	D	0.04	.	18.7355	0.91753	0.0:1.0:0.0:0.0	.	201;151	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	I	151;189;201;151;151;151	ENSP00000372553:M151I;ENSP00000397695:M189I;ENSP00000435509:M201I;ENSP00000417855:M151I;ENSP00000420775:M151I;ENSP00000420627:M151I	ENSP00000372553:M151I	M	-	3	0	ZIC4	148596564	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.425000	0.82216	0.511000	0.50034	ATG		0.642	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1		
MED12L	116931	hgsc.bcm.edu	37	3	150877657	150877657	+	Silent	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:150877657T>A	ENST00000474524.1	+	7	914	c.876T>A	c.(874-876)cgT>cgA	p.R292R	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Silent_p.R292R|MED12L_ENST00000422248.2_Silent_p.R292R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	292						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R292R(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACCTGTCTCGTCGTCTTGCCT	0.488																																					p.R292R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T876A	3						.						184.0	181.0	182.0					3																	150877657		2203	4300	6503	152360347	SO:0001819	synonymous_variant	116931	exon7			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.876T>A	3.37:g.150877657T>A		Somatic		Capture	SOLID	Phase_I	152360347	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	CCDS33876.1																																																																																				0.488	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
MBNL1	4154	hgsc.bcm.edu	37	3	152163154	152163154	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:152163154T>C	ENST00000463374.1	+	4	1144	c.633T>C	c.(631-633)atT>atC	p.I211I	MBNL1_ENST00000357472.3_Silent_p.I211I|MBNL1_ENST00000324210.5_Silent_p.I211I|MBNL1_ENST00000498502.1_Silent_p.I211I|MBNL1_ENST00000485509.1_Silent_p.I211I|MBNL1_ENST00000282486.6_Silent_p.I211I|MBNL1_ENST00000493459.1_Silent_p.I154I|MBNL1_ENST00000492948.1_Silent_p.I211I|MBNL1_ENST00000282488.7_Silent_p.I143I|MBNL1_ENST00000324196.5_Silent_p.I211I|MBNL1_ENST00000545754.1_Silent_p.I143I|MBNL1_ENST00000355460.2_Silent_p.I211I|MBNL1_ENST00000485910.1_Silent_p.I143I	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	211					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.I143I(1)|p.I211I(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCACAATGATTGACACCAATG	0.448																																					p.I211I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T633C	3						.						137.0	110.0	119.0					3																	152163154		2203	4300	6503	153645844	SO:0001819	synonymous_variant	4154	exon4			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.633T>C	3.37:g.152163154T>C		Somatic		Capture	SOLID	Phase_I	153645844	NM_207293	E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Silent	SNP	ENST00000463374.1	37	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.297304	0.23650	.	.	ENSG00000152601	ENST00000464596	.	.	.	5.32	2.95	0.34219	.	.	.	.	.	T	0.57946	0.2088	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52873	-0.8517	4	.	.	.	-0.3968	8.4569	0.32903	0.0:0.2286:0.0:0.7714	.	.	.	.	S	210	.	.	L	+	2	0	MBNL1	153645844	0.947000	0.32204	1.000000	0.80357	0.998000	0.95712	0.041000	0.13927	0.848000	0.35191	0.482000	0.46254	TTG		0.448	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038	
DHX36	170506	hgsc.bcm.edu	37	3	153993961	153993961	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:153993961C>T	ENST00000496811.1	-	25	3106	c.3026G>A	c.(3025-3027)tGa>tAa	p.*1009*	DHX36_ENST00000329463.5_Silent_p.*995*|DHX36_ENST00000544526.1_Silent_p.*995*|DHX36_ENST00000308361.6_Silent_p.*980*	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	0					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.*1009*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GAAAAGCTGTCAGCTGTAATA	0.438																																					p.X995X												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2984A	3						.						101.0	97.0	98.0					3																	153993961		2203	4300	6503	155476655	SO:0001819	synonymous_variant	170506	exon25			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.3026G>A	3.37:g.153993961C>T		Somatic		Capture	SOLID	Phase_I	155476655	NM_001114397	B2RB00|Q70JU3|Q8IYE5|Q9P240	Silent	SNP	ENST00000496811.1	37	CCDS3171.1																																																																																				0.438	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865	
MME	4311	hgsc.bcm.edu	37	3	154801961	154801961	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:154801961G>A	ENST00000460393.1	+	2	125	c.5G>A	c.(4-6)gGc>gAc	p.G2D	MME_ENST00000493237.1_Missense_Mutation_p.G2D|MME_ENST00000492661.1_Missense_Mutation_p.G2D|MME_ENST00000462745.1_Missense_Mutation_p.G2D|MME_ENST00000382989.3_Missense_Mutation_p.G2D|MME_ENST00000360490.2_Missense_Mutation_p.G2D	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	2					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.G2D(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TAGGTGATGGGCAAGTCAGAA	0.358																																					p.G2D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5A	3						.						118.0	119.0	119.0					3																	154801961		2203	4300	6503	156284655	SO:0001583	missense	4311	exon2				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.5G>A	3.37:g.154801961G>A	ENSP00000418525:p.Gly2Asp	Somatic		Capture	SOLID	Phase_I	156284655	NM_000902	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245279	0.80024	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000382989;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000473730;ENST00000497890;ENST00000462837	D;D;D;D;D;D;D;D;D	0.94232	-1.88;-1.88;-2.31;-1.88;-1.88;-1.88;-3.38;-3.32;-2.95	5.27	5.27	0.74061	.	0.335172	0.28414	N	0.015436	D	0.95230	0.8453	L	0.44542	1.39	0.50813	D	0.999895	D	0.89917	1.0	D	0.91635	0.999	D	0.95631	0.8689	10	0.87932	D	0	-12.2348	17.0415	0.86490	0.0:0.0:1.0:0.0	.	2	P08473	NEP_HUMAN	D	2	ENSP00000420389:G2D;ENSP00000418525:G2D;ENSP00000420101:G2D;ENSP00000419653:G2D;ENSP00000417079:G2D;ENSP00000353679:G2D;ENSP00000418791:G2D;ENSP00000420542:G2D;ENSP00000417595:G2D	ENSP00000353679:G2D	G	+	2	0	MME	156284655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.840000	0.62817	2.630000	0.89119	0.591000	0.81541	GGC		0.358	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	
PLCH1	23007	hgsc.bcm.edu	37	3	155200568	155200568	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:155200568C>T	ENST00000340059.7	-	23	3270	c.3271G>A	c.(3271-3273)Gct>Act	p.A1091T	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.A1053T|PLCH1_ENST00000414191.1_Missense_Mutation_p.A1053T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.A1053T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1091					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.A1053T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGATCGGGAGCCAAATGCTGC	0.493																																					p.A1091T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3271A	3						.						182.0	182.0	182.0					3																	155200568		2203	4300	6503	156683262	SO:0001583	missense	23007	exon23			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3271G>A	3.37:g.155200568C>T	ENSP00000345988:p.Ala1091Thr	Somatic		Capture	SOLID	Phase_I	156683262	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436831	0.43224	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.57	-0.568	0.11760	.	2.998890	0.00639	N	0.000504	T	0.15912	0.0383	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.18366	-1.0339	10	0.32370	T	0.25	.	5.4021	0.16301	0.1219:0.5373:0.0:0.3408	.	1053;1091	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	T	1053;1091;1053;1053	ENSP00000417502:A1053T;ENSP00000345988:A1091T;ENSP00000335469:A1053T;ENSP00000412977:A1053T	ENSP00000335469:A1053T	A	-	1	0	PLCH1	156683262	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.040000	0.13905	-0.164000	0.10927	0.591000	0.81541	GCT		0.493	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
PLCH1	23007	hgsc.bcm.edu	37	3	155215147	155215147	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:155215147T>C	ENST00000340059.7	-	14	1819	c.1820A>G	c.(1819-1821)tAc>tGc	p.Y607C	PLCH1_ENST00000494598.1_Missense_Mutation_p.Y607C|PLCH1_ENST00000460012.1_Missense_Mutation_p.Y589C|PLCH1_ENST00000414191.1_Missense_Mutation_p.Y589C|PLCH1_ENST00000447496.2_Missense_Mutation_p.Y607C|PLCH1_ENST00000334686.6_Missense_Mutation_p.Y589C	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	607	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.Y589C(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGAGTTTGTGTACACAACCAA	0.453																																					p.Y607C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1820G	3						.						134.0	123.0	126.0					3																	155215147		2203	4300	6503	156697841	SO:0001583	missense	23007	exon14			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1820A>G	3.37:g.155215147T>C	ENSP00000345988:p.Tyr607Cys	Somatic		Capture	SOLID	Phase_I	156697841	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.778318	0.70107	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.76	5.76	0.90799	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.169906	0.53938	D	0.000045	D	0.91952	0.7451	H	0.96301	3.8	0.51767	D	0.999931	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.99	D	0.94368	0.7593	10	0.87932	D	0	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	589;607;607	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	C	607;589;607;607;589;589	ENSP00000419100:Y607C;ENSP00000417502:Y589C;ENSP00000402759:Y607C;ENSP00000345988:Y607C;ENSP00000335469:Y589C;ENSP00000412977:Y589C	ENSP00000335469:Y589C	Y	-	2	0	PLCH1	156697841	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	3.313000	0.51935	2.191000	0.70037	0.533000	0.62120	TAC		0.453	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
MLF1	4291	hgsc.bcm.edu	37	3	158320712	158320712	+	Nonsense_Mutation	SNP	C	C	T	rs200248107	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:158320712C>T	ENST00000355893.5	+	6	823	c.685C>T	c.(685-687)Cga>Tga	p.R229*	MLF1_ENST00000469452.1_Nonsense_Mutation_p.R161*|MLF1_ENST00000478894.2_Nonsense_Mutation_p.R219*|MLF1_ENST00000471745.1_Nonsense_Mutation_p.R219*|MLF1_ENST00000482628.1_Nonsense_Mutation_p.R204*|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000484955.1_Nonsense_Mutation_p.R204*|MLF1_ENST00000359117.5_Nonsense_Mutation_p.R204*|MLF1_ENST00000392822.3_Nonsense_Mutation_p.R260*	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	229					cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)	p.R229*(2)|p.R260*(2)		large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TCCTGGCTCCCGAGAACTTAA	0.353			T	NPM1	AML								C|||	7	0.00139776	0.0	0.0	5008	,	,		18250	0.006		0.0	False		,,,				2504	0.001				p.R219X			Dom	yes		3	3q25.1	4291	myeloid leukemia factor 1		L	.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C655T	3						.						90.0	86.0	88.0					3																	158320712		2203	4300	6503	159803406	SO:0001587	stop_gained	4291	exon8			L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.685C>T	3.37:g.158320712C>T	ENSP00000348157:p.Arg229*	Somatic		Capture	SOLID	Phase_I	159803406	NM_001195434	E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Nonsense_Mutation	SNP	ENST00000355893.5	37	CCDS3182.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.87	2.664495	0.47572	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000471745;ENST00000469452;ENST00000482628;ENST00000478894;ENST00000392822	.	.	.	5.86	2.72	0.32119	.	1.003150	0.08032	N	0.993686	.	.	.	.	.	.	0.53005	D	0.999966	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7234	12.102	0.53790	0.3222:0.5825:0.0953:0.0	.	.	.	.	X	155;229;204;204;184;219;161;204;219;260	.	ENSP00000348157:R229X	R	+	1	2	MLF1	159803406	0.000000	0.05858	0.199000	0.23439	0.102000	0.19082	0.293000	0.19029	1.445000	0.47624	0.585000	0.79938	CGA		0.353	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	NM_022443	
PLD1	5337	hgsc.bcm.edu	37	3	171455802	171455802	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:171455802G>A	ENST00000351298.4	-	2	166	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	PLD1_ENST00000356327.5_Silent_p.L14L|PLD1_ENST00000342215.6_Silent_p.L14L|PLD1_ENST00000340989.4_Silent_p.L14L	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	14					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.L14L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATTTTCTGCAGTGCAGAGGTA	0.453																																					p.L14L	NSCLC(149;2174 3517 34058)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C40T	3						.						90.0	84.0	86.0					3																	171455802		2203	4300	6503	172938496	SO:0001819	synonymous_variant	5337	exon2			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.40C>T	3.37:g.171455802G>A		Somatic		Capture	SOLID	Phase_I	172938496	NM_001130081		Silent	SNP	ENST00000351298.4	37	CCDS3216.1																																																																																				0.453	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	
EIF2B5	8893	hgsc.bcm.edu	37	3	183858411	183858411	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:183858411T>C	ENST00000273783.3	+	7	1171	c.1049T>C	c.(1048-1050)cTg>cCg	p.L350P	EIF2B5_ENST00000444495.1_Missense_Mutation_p.L350P	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	350					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.L350P(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAGGTCAGCCTGGGCCATGGC	0.582																																					p.L350P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1049C	3						.						112.0	101.0	105.0					3																	183858411		2203	4300	6503	185341105	SO:0001583	missense	8893	exon7			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1049T>C	3.37:g.183858411T>C	ENSP00000273783:p.Leu350Pro	Somatic		Capture	SOLID	Phase_I	185341105	NM_003907	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.015122	0.75161	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	T;T	0.78924	-1.22;-1.22	5.8	5.8	0.92144	Trimeric LpxA-like (1);	0.072203	0.56097	D	0.000022	D	0.88676	0.6501	M	0.88640	2.97	0.80722	D	1	P;D	0.89917	0.89;1.0	P;D	0.80764	0.758;0.994	D	0.88959	0.3392	10	0.40728	T	0.16	.	12.0534	0.53520	0.0:0.0:0.1437:0.8563	.	350;350	E9PC74;Q13144	.;EI2BE_HUMAN	P	350;350;106	ENSP00000273783:L350P;ENSP00000409142:L350P	ENSP00000273783:L350P	L	+	2	0	EIF2B5	185341105	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.770000	0.68873	2.216000	0.71823	0.460000	0.39030	CTG		0.582	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1		
ABCF3	55324	hgsc.bcm.edu	37	3	183906140	183906140	+	Nonsense_Mutation	SNP	C	C	T	rs372824554		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:183906140C>T	ENST00000429586.2	+	7	966	c.781C>T	c.(781-783)Cga>Tga	p.R261*	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Nonsense_Mutation_p.R255*	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	261	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R261*(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACAGTGTGCGAGAGGATTT	0.597																																					p.R261X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C781T	3						.	C	stop/ARG	0,4406		0,0,2203	111.0	112.0	112.0		781	4.2	1.0	3		112	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ABCF3	NM_018358.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		261/710	183906140	1,13005	2203	4300	6503	185388834	SO:0001587	stop_gained	55324	exon7			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.781C>T	3.37:g.183906140C>T	ENSP00000411471:p.Arg261*	Somatic		Capture	SOLID	Phase_I	185388834	NM_018358	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Nonsense_Mutation	SNP	ENST00000429586.2	37	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245848	0.80024	0.0	1.16E-4	ENSG00000161204	ENST00000429586;ENST00000292808	.	.	.	5.06	4.17	0.49024	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3038	13.6733	0.62438	0.1645:0.8354:0.0:0.0	.	.	.	.	X	261;255	.	ENSP00000292808:R255X	R	+	1	2	ABCF3	185388834	1.000000	0.71417	0.978000	0.43139	0.365000	0.29674	4.755000	0.62198	1.084000	0.41184	0.561000	0.74099	CGA		0.597	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358	
EIF4G1	1981	hgsc.bcm.edu	37	3	184052538	184052538	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:184052538G>A	ENST00000346169.2	+	33	4913	c.4642G>A	c.(4642-4644)Gca>Aca	p.A1548T	EIF4G1_ENST00000392537.2_Missense_Mutation_p.A1461T|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A1509T|EIF4G1_ENST00000342981.4_Missense_Mutation_p.A1549T|FAM131A_ENST00000450976.1_5'Flank|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A1555T|FAM131A_ENST00000340957.5_5'Flank|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A1352T|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A1462T|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A1508T|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A1555T|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A1353T|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A1385T|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_5'Flank|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A1555T|FAM131A_ENST00000383847.2_5'Flank|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A1384T|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A1548T	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1548	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.A1548S(1)|p.A1548T(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTTCTTTGACGCACTGTATGA	0.602																																					p.A1549T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G4645A	3						.						116.0	98.0	104.0					3																	184052538		2203	4300	6503	185535232	SO:0001583	missense	1981	exon32			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4642G>A	3.37:g.184052538G>A	ENSP00000316879:p.Ala1548Thr	Somatic		Capture	SOLID	Phase_I	185535232	NM_182917	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	3.972	-0.008241	0.07727	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	4.15	1.33	0.21861	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.131174	0.51477	N	0.000088	T	0.60560	0.2278	N	0.12746	0.255	0.18873	N	0.999988	B;B;B	0.28178	0.202;0.202;0.202	B;B;B	0.25506	0.061;0.061;0.061	T	0.47381	-0.9122	10	0.11485	T	0.65	0.2796	5.7471	0.18126	0.1751:0.0:0.6694:0.1555	.	1555;1549;1548	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	T	1548;1508;1461;1555;1384;1555;1462;1549;1548;1555;1509;1385;1353;1352	ENSP00000316879:A1548T;ENSP00000391935:A1508T;ENSP00000376320:A1461T;ENSP00000371767:A1555T;ENSP00000317600:A1384T;ENSP00000338020:A1555T;ENSP00000407682:A1462T;ENSP00000343450:A1549T;ENSP00000323737:A1548T;ENSP00000416255:A1555T;ENSP00000395974:A1509T;ENSP00000399858:A1385T;ENSP00000411826:A1353T;ENSP00000404754:A1352T	ENSP00000323737:A1548T	A	+	1	0	EIF4G1	185535232	0.014000	0.17966	0.016000	0.15963	0.038000	0.13279	1.175000	0.31944	0.075000	0.16796	-0.300000	0.09419	GCA		0.602	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
TMEM41A	90407	hgsc.bcm.edu	37	3	185214750	185214750	+	Missense_Mutation	SNP	C	C	T	rs139998239		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:185214750C>T	ENST00000421852.1	-	2	234	c.139G>A	c.(139-141)Gac>Aac	p.D47N	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Missense_Mutation_p.D47N	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	47						integral component of membrane (GO:0016021)		p.D47N(1)		large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCTGCCAGGTCGGAGGGGAAC	0.557													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19557	0.0		0.0	False		,,,				2504	0.0				p.D47N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G139A	3						.	C	ASN/ASP	1,4405		0,1,2202	29.0	29.0	29.0		139	5.4	1.0	3	dbSNP_134	29	2,8592		0,2,4295	no	missense	TMEM41A	NM_080652.3	23	0,3,6497	TT,TC,CC		0.0233,0.0227,0.0231	benign	47/265	185214750	3,12997	2203	4297	6500	186697444	SO:0001583	missense	90407	exon2			BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.139G>A	3.37:g.185214750C>T	ENSP00000406885:p.Asp47Asn	Somatic		Capture	SOLID	Phase_I	186697444	NM_080652	A8K4B3|D3DNU2|Q6ZMJ0	Missense_Mutation	SNP	ENST00000421852.1	37	CCDS3271.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665649	0.88251	2.27E-4	2.33E-4	ENSG00000163900	ENST00000421852;ENST00000296254	.	.	.	5.43	5.43	0.79202	.	0.096565	0.64402	D	0.000001	T	0.60301	0.2258	L	0.54965	1.715	0.80722	D	1	D;P	0.61697	0.99;0.597	P;B	0.49192	0.602;0.12	T	0.55724	-0.8096	9	0.11485	T	0.65	-9.2113	19.2299	0.93834	0.0:1.0:0.0:0.0	.	47;47	F8WDE2;Q96HV5	.;TM41A_HUMAN	N	47	.	ENSP00000296254:D47N	D	-	1	0	TMEM41A	186697444	1.000000	0.71417	0.963000	0.40424	0.976000	0.68499	5.788000	0.69020	2.544000	0.85801	0.655000	0.94253	GAC		0.557	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652	
MASP1	5648	hgsc.bcm.edu	37	3	186953777	186953777	+	Intron	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:186953777C>T	ENST00000337774.5	-	10	1693				MASP1_ENST00000392472.2_Missense_Mutation_p.A515T|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000296280.6_Missense_Mutation_p.A628T	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.A628T(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TTGCACTCAGCGTGAGGCACC	0.537																																					p.A628T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1882A	3						.						110.0	90.0	97.0					3																	186953777		2203	4300	6503	188436471	SO:0001627	intron_variant	5648	exon11			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5491G>A	3.37:g.186953777C>T		Somatic		Capture	SOLID	Phase_I	188436471	NM_139125	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380718	0.24944	.	.	ENSG00000127241	ENST00000296280;ENST00000392472	D;D	0.89196	-2.48;-2.48	6.17	5.3	0.74995	.	0.373191	0.31909	N	0.006875	T	0.77018	0.4069	N	0.16098	0.37	0.80722	D	1	B;B	0.31655	0.334;0.334	B;B	0.22152	0.038;0.024	T	0.74648	-0.3595	10	0.10111	T	0.7	.	14.5326	0.67936	0.0:0.9307:0.0:0.0693	.	515;628	P48740-4;P48740-2	.;.	T	628;515	ENSP00000296280:A628T;ENSP00000376264:A515T	ENSP00000296280:A628T	A	-	1	0	MASP1	188436471	0.988000	0.35896	0.113000	0.21522	0.655000	0.38815	3.901000	0.56303	1.627000	0.50400	0.655000	0.94253	GCT		0.537	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879	
BCL6	604	hgsc.bcm.edu	37	3	187444607	187444607	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:187444607G>T	ENST00000406870.2	-	7	1986	c.1620C>A	c.(1618-1620)acC>acA	p.T540T	RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Silent_p.T540T|BCL6_ENST00000450123.2_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	540					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T540T(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGTCACTGTGGGTCTGCAGCG	0.607			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																p.T540T			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1620A	3						.						149.0	116.0	127.0					3																	187444607		2203	4300	6503	188927301	SO:0001819	synonymous_variant	604	exon7				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1620C>A	3.37:g.187444607G>T		Somatic		Capture	SOLID	Phase_I	188927301	NM_001130845	A7E241|B8PSA7|D3DNV5	Silent	SNP	ENST00000406870.2	37	CCDS3289.1																																																																																				0.607	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931	
DLG1	1739	hgsc.bcm.edu	37	3	196807934	196807934	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:196807934C>T	ENST00000419354.1	-	18	2278	c.1992G>A	c.(1990-1992)acG>acA	p.T664T	DLG1_ENST00000450955.1_Silent_p.T631T|DLG1_ENST00000392382.2_Silent_p.T631T|DLG1_ENST00000452595.1_Silent_p.T548T|DLG1_ENST00000422288.1_Silent_p.T613T|DLG1_ENST00000448528.2_Silent_p.T664T|DLG1_ENST00000357674.4_Silent_p.T631T|DLG1_ENST00000443183.1_Silent_p.T548T|DLG1_ENST00000346964.2_Silent_p.T664T|DLG1_ENST00000314062.3_Silent_p.T613T			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	664					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.T664T(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTTTATCTCTCGTTTTAGAAT	0.294																																					p.T664T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1992A	3						.						119.0	114.0	116.0					3																	196807934		2203	4298	6501	198292331	SO:0001819	synonymous_variant	1739	exon18			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1992G>A	3.37:g.196807934C>T		Somatic		Capture	SOLID	Phase_I	198292331	NM_004087	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Silent	SNP	ENST00000419354.1	37	CCDS43194.1																																																																																				0.294	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087	
CHL1	10752	hgsc.bcm.edu	37	3	403486	403486	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:403486G>A	ENST00000256509.2	+	13	2053	c.1411G>A	c.(1411-1413)Gtg>Atg	p.V471M	CHL1-AS1_ENST00000608098.1_RNA|CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.V455M	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.V471M(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGAGGCAGTCGTGTCCTGGTA	0.438																																					p.V471M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1411A	3						.						176.0	161.0	166.0					3																	403486		2203	4300	6503	378486	SO:0001583	missense	10752	exon13			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1411G>A	3.37:g.403486G>A	ENSP00000256509:p.Val471Met	Somatic		Capture	SOLID	Phase_I	378486	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109991	0.56398	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.76968	-1.06;-1.06	5.06	3.93	0.45458	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.234344	0.37219	N	0.002188	D	0.88028	0.6327	M	0.88241	2.94	0.40075	D	0.976063	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.76071	0.987;0.987;0.918	D	0.89456	0.3733	10	0.87932	D	0	.	10.1345	0.42697	0.1355:0.0:0.8645:0.0	.	455;455;471	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	M	471;455	ENSP00000256509:V471M;ENSP00000380628:V455M	ENSP00000256509:V471M	V	+	1	0	CHL1	378486	0.944000	0.32072	0.941000	0.38009	0.691000	0.40173	2.202000	0.42743	2.490000	0.84030	0.563000	0.77884	GTG		0.438	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
CNTN4	152330	hgsc.bcm.edu	37	3	3078964	3078964	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:3078964A>T	ENST00000397461.1	+	17	2428	c.2044A>T	c.(2044-2046)Att>Ttt	p.I682F	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000418658.1_Missense_Mutation_p.I682F|CNTN4_ENST00000427331.1_Missense_Mutation_p.I682F|CNTN4_ENST00000448906.2_Missense_Mutation_p.I354F|CNTN4_ENST00000397459.2_Missense_Mutation_p.I354F|CNTN4_ENST00000358480.3_Missense_Mutation_p.I463F	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	682	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CGTGATTGGGATTGGGGAGCC	0.527																																					p.I354F												.	.	0			c.A1060T	3						.						168.0	179.0	175.0					3																	3078964		2203	4300	6503	3053964	SO:0001583	missense	152330	exon9			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2044A>T	3.37:g.3078964A>T	ENSP00000380602:p.Ile682Phe	Somatic		Capture	SOLID	Phase_I	3053964	NM_175613	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421358	0.83559	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	5.48	4.32	0.51571	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055647	0.64402	D	0.000001	T	0.56093	0.1962	M	0.67625	2.065	0.52501	D	0.999951	P;P;P	0.48911	0.917;0.627;0.827	P;B;P	0.51016	0.656;0.374;0.449	T	0.54417	-0.8297	10	0.10377	T	0.69	.	11.3506	0.49585	0.9291:0.0:0.0709:0.0	.	681;682;682	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	F	682;682;682;463;354;354	ENSP00000396010:I682F;ENSP00000380602:I682F;ENSP00000413642:I682F;ENSP00000351267:I463F;ENSP00000380600:I354F;ENSP00000392077:I354F	ENSP00000351267:I463F	I	+	1	0	CNTN4	3053964	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	6.179000	0.71974	0.912000	0.36772	0.533000	0.62120	ATT		0.527	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
RARB	5915	hgsc.bcm.edu	37	3	25636097	25636097	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:25636097C>T	ENST00000404969.1	+	7	1099	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	RARB_ENST00000458646.1_Nonsense_Mutation_p.R248*|RARB_ENST00000437042.2_Nonsense_Mutation_p.R248*|RARB_ENST00000330688.4_Nonsense_Mutation_p.R360*|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	367	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R360*(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CAGAAAAAGACGACCCAGCAA	0.428																																					p.R360X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1078T	3						.						99.0	97.0	97.0					3																	25636097		2203	4300	6503	25611101	SO:0001587	stop_gained	5915	exon7			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1099C>T	3.37:g.25636097C>T	ENSP00000385865:p.Arg367*	Somatic		Capture	SOLID	Phase_I	25611101	NM_000965	P12891|Q00989|Q15298|Q9UN48	Nonsense_Mutation	SNP	ENST00000404969.1	37		.	.	.	.	.	.	.	.	.	.	C	40	8.097178	0.98651	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0425	0.58908	0.2808:0.7192:0.0:0.0	.	.	.	.	X	367;367;367;248;360;248	.	ENSP00000332296:R360X	R	+	1	2	RARB	25611101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.827000	0.39102	2.673000	0.90976	0.591000	0.81541	CGA		0.428	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152	
STT3B	201595	hgsc.bcm.edu	37	3	31674618	31674618	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:31674618A>C	ENST00000295770.2	+	15	2588	c.2379A>C	c.(2377-2379)aaA>aaC	p.K793N		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	793					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.K793N(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TTTTCCCAAAACAGAAGTATT	0.373																																					p.K793N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2379C	3						.						54.0	53.0	53.0					3																	31674618		2203	4300	6503	31649622	SO:0001583	missense	201595	exon15			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.2379A>C	3.37:g.31674618A>C	ENSP00000295770:p.Lys793Asn	Somatic		Capture	SOLID	Phase_I	31649622	NM_178862	Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548902	0.45383	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.48	5.48	0.80851	.	0.101813	0.64402	D	0.000003	T	0.53318	0.1789	L	0.40543	1.245	0.58432	D	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.48115	-0.9063	9	0.20519	T	0.43	-16.5522	15.8853	0.79244	1.0:0.0:0.0:0.0	.	793	Q8TCJ2	STT3B_HUMAN	N	793	.	ENSP00000295770:K793N	K	+	3	2	STT3B	31649622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.814000	0.55643	2.216000	0.71823	0.533000	0.62120	AAA		0.373	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862	
OSBPL10	114884	hgsc.bcm.edu	37	3	31871613	31871613	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:31871613G>A	ENST00000396556.2	-	4	770	c.648C>T	c.(646-648)gtC>gtT	p.V216V	OSBPL10_ENST00000438237.2_Intron|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	216					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.V216V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GCGTGATTGTGACAACACCGG	0.582																																					p.V216V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C648T	3						.						64.0	60.0	61.0					3																	31871613		2203	4300	6503	31846617	SO:0001819	synonymous_variant	114884	exon4			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.648C>T	3.37:g.31871613G>A		Somatic		Capture	SOLID	Phase_I	31846617	NM_017784	B4E212|Q9BTU5	Silent	SNP	ENST00000396556.2	37	CCDS2651.1																																																																																				0.582	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2		
UBP1	7342	hgsc.bcm.edu	37	3	33453143	33453143	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:33453143G>A	ENST00000283629.3	-	5	1014	c.485C>T	c.(484-486)aCg>aTg	p.T162M	UBP1_ENST00000283628.5_Missense_Mutation_p.T162M|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000447368.2_Missense_Mutation_p.T162M|RNU7-110P_ENST00000516891.1_RNA	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	162					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T162M(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GCTTGGATTCGTCCTTGTGTC	0.338																																					p.T162M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C485T	3						.						141.0	137.0	138.0					3																	33453143		2203	4300	6503	33428147	SO:0001583	missense	7342	exon6			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.485C>T	3.37:g.33453143G>A	ENSP00000283629:p.Thr162Met	Somatic		Capture	SOLID	Phase_I	33428147	NM_001128161	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118316	0.94385	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.17528	2.27;2.27;2.27	6.02	6.02	0.97574	CP2 transcription factor (1);	0.047811	0.85682	D	0.000000	T	0.34832	0.0911	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.89917	1.0;0.97	D;P	0.69307	0.963;0.806	T	0.00695	-1.1606	10	0.51188	T	0.08	-16.064	20.547	0.99278	0.0:0.0:1.0:0.0	.	162;162	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	M	162	ENSP00000283629:T162M;ENSP00000395558:T162M;ENSP00000283628:T162M	ENSP00000283628:T162M	T	-	2	0	UBP1	33428147	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.057000	0.89457	2.850000	0.98022	0.650000	0.86243	ACG		0.338	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517	
STAC	6769	hgsc.bcm.edu	37	3	36485048	36485048	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:36485048C>A	ENST00000273183.3	+	2	604	c.304C>A	c.(304-306)Cat>Aat	p.H102N	STAC_ENST00000457375.2_Missense_Mutation_p.H102N|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	102					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.H102N(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGCTGGTCTGCATCCAGGTGG	0.572																																					p.H102N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C304A	3						.						119.0	109.0	113.0					3																	36485048		2203	4300	6503	36460052	SO:0001583	missense	6769	exon2			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.304C>A	3.37:g.36485048C>A	ENSP00000273183:p.His102Asn	Somatic		Capture	SOLID	Phase_I	36460052	NM_003149	B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267769	0.23136	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	T;T;T	0.74737	-0.87;1.08;0.93	4.63	2.79	0.32731	.	0.133394	0.52532	D	0.000074	T	0.56543	0.1992	N	0.22421	0.69	0.25645	N	0.986166	B;B	0.14805	0.009;0.011	B;B	0.11329	0.004;0.006	T	0.36163	-0.9759	10	0.16896	T	0.51	.	10.4229	0.44361	0.0:0.83:0.0:0.17	.	102;102	E9PEA7;Q99469	.;STAC_HUMAN	N	102;102;34;91	ENSP00000273183:H102N;ENSP00000393713:H102N;ENSP00000398403:H91N	ENSP00000273183:H102N	H	+	1	0	STAC	36460052	0.903000	0.30736	1.000000	0.80357	0.484000	0.33280	2.583000	0.46094	0.614000	0.30107	-0.259000	0.10710	CAT		0.572	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149	
ACAA1	30	hgsc.bcm.edu	37	3	38167752	38167752	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:38167752T>C	ENST00000333167.8	-	9	1070	c.898A>G	c.(898-900)Atc>Gtc	p.I300V	Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000301810.7_Intron|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000544624.1_3'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.I259V	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	300					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)	p.I300V(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		ACCCCAAGGATGGGAAGGCCC	0.582																																					p.I300V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A898G	3						.						102.0	81.0	88.0					3																	38167752		2203	4300	6503	38142756	SO:0001583	missense	30	exon9			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.898A>G	3.37:g.38167752T>C	ENSP00000333664:p.Ile300Val	Somatic		Capture	SOLID	Phase_I	38142756	NM_001607	G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.347885	0.41599	.	.	ENSG00000060971	ENST00000333167;ENST00000450296;ENST00000358122	D;D	0.82433	-1.61;-1.61	5.34	2.97	0.34412	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.183555	0.49305	N	0.000152	T	0.69851	0.3157	N	0.25060	0.705	0.80722	D	1	B;B;B	0.18461	0.009;0.028;0.001	B;B;B	0.23275	0.009;0.045;0.009	T	0.61446	-0.7061	10	0.32370	T	0.25	-20.1279	8.6226	0.33870	0.0:0.2646:0.0:0.7354	.	232;259;300	F5GXL8;C9JDE9;P09110	.;.;THIK_HUMAN	V	300;259;232	ENSP00000333664:I300V;ENSP00000395183:I259V	ENSP00000333664:I300V	I	-	1	0	ACAA1	38142756	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	2.423000	0.44705	0.854000	0.35336	0.528000	0.53228	ATC		0.582	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607	
ZNF620	253639	hgsc.bcm.edu	37	3	40558182	40558182	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:40558182G>A	ENST00000314529.6	+	5	1246	c.1097G>A	c.(1096-1098)tGt>tAt	p.C366Y	ZNF620_ENST00000418905.1_Missense_Mutation_p.C252Y	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C366Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCCTTTGAATGTAAGGAGTGT	0.443																																					p.C366Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1097A	3						.						79.0	80.0	80.0					3																	40558182		2203	4300	6503	40533186	SO:0001583	missense	253639	exon5			AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.1097G>A	3.37:g.40558182G>A	ENSP00000322265:p.Cys366Tyr	Somatic		Capture	SOLID	Phase_I	40533186	NM_175888	Q8N223	Missense_Mutation	SNP	ENST00000314529.6	37	CCDS33740.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325060	0.41197	.	.	ENSG00000177842	ENST00000314529;ENST00000418905	D;D	0.85088	-1.94;-1.94	2.82	2.82	0.32997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94212	0.8142	H	0.96889	3.9	0.44579	D	0.99754	D	0.89917	1.0	D	0.97110	1.0	D	0.94948	0.8097	8	.	.	.	.	11.4298	0.50034	0.0:0.0:1.0:0.0	.	366	Q6ZNG0	ZN620_HUMAN	Y	366;252	ENSP00000322265:C366Y;ENSP00000391472:C252Y	.	C	+	2	0	ZNF620	40533186	1.000000	0.71417	0.955000	0.39395	0.054000	0.15201	6.510000	0.73729	1.591000	0.50007	0.585000	0.79938	TGT		0.443	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342824.1	XM_171060	
VIPR1	7433	hgsc.bcm.edu	37	3	42572287	42572287	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:42572287C>T	ENST00000325123.4	+	7	766	c.653C>T	c.(652-654)gCc>gTc	p.A218V	VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.A170V|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_Missense_Mutation_p.P15S|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.A177V|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	218					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.A218V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TGTAAGGCAGCCATGGTCTTT	0.562																																					p.A218V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C653T	3						.						122.0	107.0	112.0					3																	42572287		2203	4300	6503	42547291	SO:0001583	missense	7433	exon7			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.653C>T	3.37:g.42572287C>T	ENSP00000327246:p.Ala218Val	Somatic		Capture	SOLID	Phase_I	42547291	NM_004624	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	CCDS2698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	19.27|19.27	3.795604|3.795604	0.70452|0.70452	.|.	.|.	ENSG00000114812|ENSG00000114812	ENST00000433647;ENST00000543411;ENST00000325123|ENST00000438259;ENST00000439731	T;T;T|T;T	0.35236|0.44881	1.32;1.32;1.32|1.25;0.91	5.29|5.29	4.41|4.41	0.53225|0.53225	GPCR, family 2-like (1);|.	0.210079|.	0.39985|.	N|.	0.001214|.	T|T	0.23210|0.23210	0.0561|0.0561	N|N	0.04297|0.04297	-0.235|-0.235	0.23298|0.23298	N|N	0.997953|0.997953	B;P;B|B	0.45531|0.11235	0.09;0.86;0.106|0.004	B;P;B|B	0.44561|0.06405	0.095;0.453;0.214|0.002	T|T	0.10132|0.10132	-1.0643|-1.0643	10|9	0.02654|0.72032	T|D	1|0.01	.|.	10.6799|10.6799	0.45809|0.45809	0.0:0.8523:0.0:0.1477|0.0:0.8523:0.0:0.1477	.|.	191;170;218|15	B4DNY6;F5H1F5;P32241|B4DEB5	.;.;VIPR1_HUMAN|.	V|S	177;170;218|15;174	ENSP00000394950:A177V;ENSP00000445701:A170V;ENSP00000327246:A218V|ENSP00000415371:P15S;ENSP00000403478:P174S	ENSP00000327246:A218V|ENSP00000415371:P15S	A|P	+|+	2|1	0|0	VIPR1|VIPR1	42547291|42547291	0.959000|0.959000	0.32827|0.32827	0.982000|0.982000	0.44146|0.44146	0.870000|0.870000	0.49936|0.49936	2.088000|2.088000	0.41663|0.41663	2.481000|2.481000	0.83766|0.83766	0.552000|0.552000	0.68991|0.68991	GCC|CCA		0.562	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624	
CDCP1	64866	hgsc.bcm.edu	37	3	45152141	45152141	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:45152141T>C	ENST00000296129.1	-	4	982	c.848A>G	c.(847-849)tAc>tGc	p.Y283C	CDCP1_ENST00000425231.2_Missense_Mutation_p.Y283C|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	283						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y283C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CGGGATGTAGTATTCAACCCG	0.577																																					p.Y283C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A848G	3						.						137.0	128.0	131.0					3																	45152141		2203	4300	6503	45127145	SO:0001583	missense	64866	exon4			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.848A>G	3.37:g.45152141T>C	ENSP00000296129:p.Tyr283Cys	Somatic		Capture	SOLID	Phase_I	45127145	NM_022842	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.330910	0.81690	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.49720	1.6;0.77	5.87	5.87	0.94306	CUB (1);	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.71581	2.175	0.46336	D	0.998995	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.71797	-0.4484	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	283;283	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	C	283	ENSP00000296129:Y283C;ENSP00000399342:Y283C	ENSP00000296129:Y283C	Y	-	2	0	CDCP1	45127145	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.789000	0.69029	2.371000	0.80710	0.533000	0.62120	TAC		0.577	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842	
SLC6A20	54716	hgsc.bcm.edu	37	3	45801444	45801444	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:45801444C>A	ENST00000358525.4	-	10	1649	c.1534G>T	c.(1534-1536)Gta>Tta	p.V512L	SLC6A20_ENST00000456124.2_Missense_Mutation_p.V512L|SLC6A20_ENST00000493980.1_5'Flank|SLC6A20_ENST00000353278.4_Missense_Mutation_p.V475L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	512					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.V475L(1)|p.V512L(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGTGGGCTTACGCCAGCCCAC	0.537																																					p.V475L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1423T	3						.						124.0	124.0	124.0					3																	45801444		2203	4300	6503	45776448	SO:0001583	missense	54716	exon9			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1534G>T	3.37:g.45801444C>A	ENSP00000346298:p.Val512Leu	Somatic		Capture	SOLID	Phase_I	45776448	NM_022405	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268784	0.40095	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.75589	-0.95;-0.95;-0.95	5.98	5.11	0.69529	.	0.133325	0.49916	D	0.000127	T	0.63896	0.2550	L	0.28192	0.835	0.32148	N	0.584601	P;P	0.41498	0.752;0.681	B;B	0.44278	0.317;0.445	T	0.65772	-0.6087	10	0.14656	T	0.56	.	11.3507	0.49585	0.0:0.8615:0.0:0.1385	.	475;512	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	L	475;512;512	ENSP00000296133:V475L;ENSP00000346298:V512L;ENSP00000404310:V512L	ENSP00000296133:V475L	V	-	1	0	SLC6A20	45776448	0.825000	0.29262	0.894000	0.35097	0.672000	0.39443	1.618000	0.36954	1.535000	0.49220	0.591000	0.81541	GTA		0.537	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208	
CCR1	1230	hgsc.bcm.edu	37	3	46245308	46245308	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:46245308A>G	ENST00000296140.3	-	2	622	c.497T>C	c.(496-498)aTg>aCg	p.M166T	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	166					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.M166T(1)		autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TAAGCCTGGCATGGAAGCCAA	0.542																																					p.M166T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T497C	3						.						74.0	72.0	72.0					3																	46245308		2203	4300	6503	46220312	SO:0001583	missense	1230	exon2				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.497T>C	3.37:g.46245308A>G	ENSP00000296140:p.Met166Thr	Somatic		Capture	SOLID	Phase_I	46220312	NM_001295	Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	A	0.999	-0.691495	0.03303	.	.	ENSG00000163823	ENST00000296140	T	0.71817	-0.6	4.84	3.67	0.42095	GPCR, rhodopsin-like superfamily (1);	1.117520	0.06725	N	0.775560	T	0.53110	0.1776	N	0.04880	-0.145	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.46816	-0.9164	10	0.72032	D	0.01	.	10.229	0.43243	0.8541:0.0:0.1459:0.0	.	166	P32246	CCR1_HUMAN	T	166	ENSP00000296140:M166T	ENSP00000296140:M166T	M	-	2	0	CCR1	46220312	0.284000	0.24287	0.007000	0.13788	0.000000	0.00434	4.539000	0.60657	0.294000	0.22547	-1.171000	0.01739	ATG		0.542	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295	
LTF	4057	hgsc.bcm.edu	37	3	46506350	46506350	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:46506350A>G	ENST00000231751.4	-	1	303	c.8T>C	c.(7-9)cTt>cCt	p.L3P	LTF_ENST00000426532.2_5'Flank|LTF_ENST00000417439.1_Missense_Mutation_p.L3P	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	3					antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.L3P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		GAGGAAGACAAGTTTCATGTC	0.657																																					p.L3P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T8C	3						.						94.0	91.0	92.0					3																	46506350		2203	4300	6503	46481354	SO:0001583	missense	4057	exon1				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.8T>C	3.37:g.46506350A>G	ENSP00000231751:p.Leu3Pro	Somatic		Capture	SOLID	Phase_I	46481354	NM_002343	A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.582213	0.28180	.	.	ENSG00000012223	ENST00000231751;ENST00000417439;ENST00000443743;ENST00000431944	T;T;T	0.07800	4.17;4.17;3.16	3.45	2.24	0.28232	.	0.511359	0.20314	N	0.094764	T	0.06917	0.0176	L	0.48642	1.525	0.44282	D	0.997148	B;B	0.30033	0.266;0.054	B;B	0.21151	0.033;0.014	T	0.24693	-1.0153	10	0.56958	D	0.05	-7.941	5.7596	0.18192	0.8755:0.0:0.1245:0.0	.	3;3	E7ER44;P02788	.;TRFL_HUMAN	P	3	ENSP00000231751:L3P;ENSP00000405546:L3P;ENSP00000395234:L3P	ENSP00000231751:L3P	L	-	2	0	LTF	46481354	0.762000	0.28451	0.585000	0.28666	0.015000	0.08874	1.137000	0.31479	0.669000	0.31146	0.533000	0.62120	CTT		0.657	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343	
CSPG5	10675	hgsc.bcm.edu	37	3	47618364	47618364	+	Silent	SNP	G	G	A	rs571142501		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:47618364G>A	ENST00000383738.2	-	2	3250	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Silent_p.G384G|CSPG5_ENST00000456150.1_Silent_p.G246G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	384	EGF-like.				axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)	p.G384G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCACTGGCCGCCATTGTGAC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18224	0.0		0.0	False		,,,				2504	0.001				p.G384G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1152T	3						.						175.0	183.0	180.0					3																	47618364		2203	4300	6503	47593368	SO:0001819	synonymous_variant	10675	exon2			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1152C>T	3.37:g.47618364G>A		Somatic		Capture	SOLID	Phase_I	47593368	NM_006574	Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	CCDS56253.1																																																																																				0.577	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574	
DHX30	22907	hgsc.bcm.edu	37	3	47891152	47891152	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:47891152C>T	ENST00000445061.1	+	21	3631	c.3224C>T	c.(3223-3225)aCg>aTg	p.T1075M	DHX30_ENST00000348968.4_Missense_Mutation_p.T1047M|DHX30_ENST00000457607.1_Missense_Mutation_p.T1103M|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000446256.2_Missense_Mutation_p.T1036M	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1075						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.T1075M(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CGATGGCTGACGTATTTCATG	0.627																																					p.T1075M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3224T	3						.						87.0	79.0	82.0					3																	47891152		2203	4300	6503	47866156	SO:0001583	missense	22907	exon21			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3224C>T	3.37:g.47891152C>T	ENSP00000405620:p.Thr1075Met	Somatic		Capture	SOLID	Phase_I	47866156	NM_138615	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510379	0.64522	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03330	3.98;3.97;3.98;3.97	5.03	4.15	0.48705	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	L	0.41236	1.265	0.53005	D	0.999968	D;D	0.89917	1.0;0.973	D;P	0.81914	0.995;0.798	T	0.02632	-1.1131	10	0.54805	T	0.06	.	12.1589	0.54093	0.0:0.9175:0.0:0.0824	.	1075;1036	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	M	1036;1075;1047;1103	ENSP00000392601:T1036M;ENSP00000405620:T1075M;ENSP00000343442:T1047M;ENSP00000394682:T1103M	ENSP00000343442:T1047M	T	+	2	0	DHX30	47866156	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	5.813000	0.69201	1.101000	0.41535	0.561000	0.74099	ACG		0.627	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615	
CDC25A	993	hgsc.bcm.edu	37	3	48200941	48200941	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:48200941G>A	ENST00000302506.3	-	14	1735	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	CDC25A_ENST00000351231.3_Missense_Mutation_p.R403W	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	443	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.R443W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTCACATACCGGCACCTAGTC	0.512																																					p.R443W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1327T	3						.						81.0	69.0	73.0					3																	48200941		2203	4300	6503	48175945	SO:0001583	missense	993	exon14			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1327C>T	3.37:g.48200941G>A	ENSP00000303706:p.Arg443Trp	Somatic		Capture	SOLID	Phase_I	48175945	NM_001789	Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614552	0.87359	.	.	ENSG00000164045	ENST00000302506;ENST00000351231	T;T	0.26223	1.75;1.75	5.76	4.86	0.63082	Rhodanese-like (5);	0.174595	0.51477	D	0.000100	T	0.53642	0.1809	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.58685	-0.7593	10	0.87932	D	0	.	14.0518	0.64742	0.0:0.0:0.8493:0.1507	.	403;443	P30304-2;P30304	.;MPIP1_HUMAN	W	443;403	ENSP00000303706:R443W;ENSP00000343166:R403W	ENSP00000303706:R443W	R	-	1	2	CDC25A	48175945	1.000000	0.71417	0.996000	0.52242	0.756000	0.42949	5.949000	0.70257	2.713000	0.92767	0.655000	0.94253	CGG		0.512	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789	
GRM2	2912	hgsc.bcm.edu	37	3	51749923	51749923	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:51749923G>A	ENST00000395052.3	+	4	2368	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	712					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.E712K(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACAGCCCCCGAACGGCGGGA	0.637																																					p.E94K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G280A	3						.						60.0	47.0	52.0					3																	51749923		2203	4299	6502	51724963	SO:0001583	missense	2912	exon2			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.2134G>A	3.37:g.51749923G>A	ENSP00000378492:p.Glu712Lys	Somatic		Capture	SOLID	Phase_I	51724963	NM_001130063	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235013	0.79800	.	.	ENSG00000164082	ENST00000395052	D	0.88431	-2.38	5.14	5.14	0.70334	GPCR, family 3, C-terminal (2);	0.107175	0.64402	D	0.000007	D	0.90556	0.7040	L	0.43646	1.37	0.80722	D	1	D	0.56521	0.976	P	0.57468	0.821	D	0.88109	0.2824	10	0.24483	T	0.36	.	18.9878	0.92779	0.0:0.0:1.0:0.0	.	712	Q14416	GRM2_HUMAN	K	712	ENSP00000378492:E712K	ENSP00000378492:E712K	E	+	1	0	GRM2	51724963	1.000000	0.71417	0.684000	0.30055	0.426000	0.31534	7.986000	0.88173	2.567000	0.86603	0.549000	0.68633	GAA		0.637	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1		
IQCF1	132141	hgsc.bcm.edu	37	3	51929110	51929110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:51929110C>T	ENST00000310914.5	-	4	476	c.414G>A	c.(412-414)tgG>tgA	p.W138*		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	138	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.							p.W138*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCGGATGCGCCACATGCGGG	0.612																																					p.W138X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G414A	3						.						86.0	79.0	82.0					3																	51929110		2203	4300	6503	51904150	SO:0001587	stop_gained	132141	exon4			BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.414G>A	3.37:g.51929110C>T	ENSP00000307958:p.Trp138*	Somatic		Capture	SOLID	Phase_I	51904150	NM_152397	Q8N711	Nonsense_Mutation	SNP	ENST00000310914.5	37	CCDS2836.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148495	0.57151	.	.	ENSG00000173389	ENST00000310914	.	.	.	4.75	4.75	0.60458	.	0.000000	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.331	13.4271	0.61032	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000307958:W138X	W	-	3	0	IQCF1	51904150	0.999000	0.42202	0.984000	0.44739	0.693000	0.40251	3.700000	0.54786	2.622000	0.88805	0.549000	0.68633	TGG		0.612	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397	
POC1A	25886	hgsc.bcm.edu	37	3	52179927	52179927	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:52179927G>A	ENST00000296484.2	-	6	653	c.614C>T	c.(613-615)gCc>gTc	p.A205V	POC1A_ENST00000394970.2_Missense_Mutation_p.A205V|POC1A_ENST00000474012.1_Missense_Mutation_p.A167V	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	205					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.A205V(1)		endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						GTCCATGCCGGCAGCGGCAAT	0.592																																					p.A167V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C500T	3						.						108.0	79.0	89.0					3																	52179927		2203	4300	6503	52154967	SO:0001583	missense	25886	exon6			AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.614C>T	3.37:g.52179927G>A	ENSP00000296484:p.Ala205Val	Somatic		Capture	SOLID	Phase_I	52154967	NM_001161581	A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	ENST00000296484.2	37	CCDS2846.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391646	0.62066	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.64260	-0.09;-0.09;-0.09	5.29	3.47	0.39725	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.109289	0.64402	D	0.000010	T	0.56906	0.2017	L	0.53249	1.67	0.50813	D	0.999892	B;B	0.33044	0.188;0.395	B;B	0.36719	0.16;0.231	T	0.59048	-0.7527	10	0.54805	T	0.06	.	9.5987	0.39589	0.0755:0.2706:0.6539:0.0	.	205;205	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	V	205;205;167	ENSP00000296484:A205V;ENSP00000378421:A205V;ENSP00000418968:A167V	ENSP00000296484:A205V	A	-	2	0	POC1A	52154967	0.981000	0.34729	0.637000	0.29366	0.952000	0.60782	2.198000	0.42705	1.200000	0.43188	0.563000	0.77884	GCC		0.592	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426	
PHF7	51533	hgsc.bcm.edu	37	3	52457244	52457244	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:52457244G>C	ENST00000327906.3	+	11	1717	c.1057G>C	c.(1057-1059)Gaa>Caa	p.E353Q	PHF7_ENST00000347025.2_Missense_Mutation_p.E314Q	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	353						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TTCCTTATTAGAAAAGCCAGA	0.502																																					p.E353Q												.	.	0			c.G1057C	3						.						65.0	69.0	68.0					3																	52457244		2203	4300	6503	52432284	SO:0001583	missense	51533	exon11			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.1057G>C	3.37:g.52457244G>C	ENSP00000333024:p.Glu353Gln	Somatic		Capture	SOLID	Phase_I	52432284	NM_016483	K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.34|15.34	2.805611|2.805611	0.50315|0.50315	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916|ENST00000461861	D;D;D|.	0.93189|.	-2.14;-2.14;-3.18|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.669254|.	0.14643|.	N|.	0.307088|.	T|.	0.35537|.	0.0935|.	N|N	0.19112|0.19112	0.55|0.55	0.30255|0.30255	N|N	0.793696|0.793696	D;D|.	0.58268|.	0.982;0.967|.	P;P|.	0.47346|.	0.544;0.544|.	T|.	0.23726|.	-1.0180|.	10|.	0.30078|.	T|.	0.28|.	-16.4992|-16.4992	14.336|14.336	0.66589|0.66589	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	353;353|.	A8K856;Q9BWX1|.	.;PHF7_HUMAN|.	Q|Y	353;353;314;262|297	ENSP00000419316:E353Q;ENSP00000333024:E353Q;ENSP00000246282:E314Q|.	ENSP00000333024:E353Q|.	E|X	+|+	1|3	0|2	PHF7|PHF7	52432284|52432284	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	4.000000|4.000000	0.57039|0.57039	2.763000|2.763000	0.94921|0.94921	0.655000|0.655000	0.94253|0.94253	GAA|TAG		0.502	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483	
NEK4	6787	hgsc.bcm.edu	37	3	52777411	52777411	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:52777411G>T	ENST00000233027.5	-	12	2163	c.1961C>A	c.(1960-1962)cCc>cAc	p.P654H	NEK4_ENST00000383721.4_Missense_Mutation_p.P608H|NEK4_ENST00000535191.1_Missense_Mutation_p.P565H	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	654					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P654H(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GGCAGGCAAGGGCTGGTCTTC	0.547																																					p.P565H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1694A	3						.						174.0	161.0	165.0					3																	52777411		2203	4300	6503	52752451	SO:0001583	missense	6787	exon11			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1961C>A	3.37:g.52777411G>T	ENSP00000233027:p.Pro654His	Somatic		Capture	SOLID	Phase_I	52752451	NM_001193533	A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	G	9.742	1.165079	0.21538	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.72167	1.59;1.59;-0.63;1.59	5.18	-3.15	0.05233	.	0.889113	0.09851	N	0.747604	T	0.49440	0.1557	L	0.27053	0.805	0.09310	N	1	B;B;B	0.22746	0.074;0.007;0.009	B;B;B	0.17979	0.02;0.006;0.006	T	0.28396	-1.0045	10	0.33141	T	0.24	.	4.7303	0.12961	0.228:0.0:0.3014:0.4706	.	565;608;654	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	H	654;565;608;565	ENSP00000233027:P654H;ENSP00000437703:P565H;ENSP00000373227:P608H;ENSP00000419666:P565H	ENSP00000233027:P654H	P	-	2	0	NEK4	52752451	0.000000	0.05858	0.004000	0.12327	0.043000	0.13939	-0.192000	0.09587	-0.492000	0.06687	-0.142000	0.14014	CCC		0.547	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157	
SFMBT1	51460	hgsc.bcm.edu	37	3	52954655	52954655	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:52954655G>A	ENST00000394752.3	-	12	1652	c.1270C>T	c.(1270-1272)Cct>Tct	p.P424S	SFMBT1_ENST00000394750.1_Missense_Mutation_p.P424S|SFMBT1_ENST00000358080.2_Missense_Mutation_p.P424S|SFMBT1_ENST00000296295.6_Missense_Mutation_p.P424S	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	424					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.P424S(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCAGGTATAGGCTTCTTAGAA	0.388																																					p.P424S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1270T	3						.						63.0	64.0	64.0					3																	52954655		2203	4300	6503	52929695	SO:0001583	missense	51460	exon13			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1270C>T	3.37:g.52954655G>A	ENSP00000378235:p.Pro424Ser	Somatic		Capture	SOLID	Phase_I	52929695	NM_001005158	Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278946	0.80692	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.4	5.4	0.78164	.	0.297832	0.38272	N	0.001760	T	0.51398	0.1672	L	0.28014	0.82	0.80722	D	1	P;D	0.63880	0.93;0.993	P;D	0.65323	0.66;0.934	T	0.41662	-0.9496	10	0.34782	T	0.22	.	19.3691	0.94477	0.0:0.0:1.0:0.0	.	424;424	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	S	424	ENSP00000378235:P424S;ENSP00000350789:P424S;ENSP00000296295:P424S;ENSP00000378233:P424S	ENSP00000296295:P424S	P	-	1	0	SFMBT1	52929695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.382000	0.73167	2.822000	0.97130	0.650000	0.86243	CCT		0.388	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329	
CHDH	55349	hgsc.bcm.edu	37	3	53856655	53856655	+	Missense_Mutation	SNP	C	C	T	rs377715549		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:53856655C>T	ENST00000315251.6	-	4	1155	c.718G>A	c.(718-720)Gcg>Acg	p.A240T		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	240					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)	p.A240T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GCACAGGCCGCGCTCCACCGT	0.642																																					p.A240T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G718A	3						.	C	THR/ALA	0,4406		0,0,2203	73.0	61.0	65.0		718	-10.7	0.0	3		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHDH	NM_018397.4	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	240/595	53856655	1,13005	2203	4300	6503	53831695	SO:0001583	missense	55349	exon4			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.718G>A	3.37:g.53856655C>T	ENSP00000319851:p.Ala240Thr	Somatic		Capture	SOLID	Phase_I	53831695	NM_018397	Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	C	0.971	-0.700238	0.03279	0.0	1.16E-4	ENSG00000016391	ENST00000315251	T	0.38722	1.12	5.65	-10.7	0.00240	Glucose-methanol-choline oxidoreductase, N-terminal (1);	0.553031	0.20198	N	0.097147	T	0.16769	0.0403	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.30208	-0.9986	10	0.02654	T	1	-0.0337	16.592	0.84769	0.0868:0.7021:0.0:0.2112	.	240	Q8NE62	CHDH_HUMAN	T	240	ENSP00000319851:A240T	ENSP00000319851:A240T	A	-	1	0	CHDH	53831695	0.548000	0.26473	0.000000	0.03702	0.009000	0.06853	-0.340000	0.07821	-2.266000	0.00687	-0.982000	0.02568	GCG		0.642	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397	
FLNB	2317	hgsc.bcm.edu	37	3	58149024	58149024	+	Missense_Mutation	SNP	G	G	A	rs572964946	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:58149024G>A	ENST00000295956.4	+	43	7330	c.7165G>A	c.(7165-7167)Gcc>Acc	p.A2389T	FLNB_ENST00000493452.1_Missense_Mutation_p.A2196T|FLNB-AS1_ENST00000472922.1_RNA|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000348383.5_Missense_Mutation_p.A2348T|FLNB_ENST00000358537.3_Missense_Mutation_p.A2365T|FLNB_ENST00000419752.2_Missense_Mutation_p.A2209T|FLNB_ENST00000490882.1_Missense_Mutation_p.A2420T|FLNB_ENST00000429972.2_Missense_Mutation_p.A2378T|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2389	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.A2389T(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGGTGTCCGCCTATGGCAC	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		18702	0.0		0.0	False		,,,				2504	0.002				p.A2420T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7258A	3						.						70.0	63.0	65.0					3																	58149024		2203	4300	6503	58124064	SO:0001583	missense	2317	exon44			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7165G>A	3.37:g.58149024G>A	ENSP00000295956:p.Ala2389Thr	Somatic		Capture	SOLID	Phase_I	58124064	NM_001164317	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214689	0.79352	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.24	5.24	0.73138	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.095107	0.64402	D	0.000001	D	0.95030	0.8391	H	0.94620	3.56	0.80722	D	1	P;D;P;P;P;P	0.62365	0.605;0.991;0.606;0.73;0.846;0.83	B;P;B;B;B;B	0.60473	0.27;0.875;0.355;0.404;0.311;0.39	D	0.96165	0.9118	10	0.87932	D	0	.	19.2174	0.93783	0.0:0.0:1.0:0.0	.	2365;2420;2196;2209;2378;2389	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	T	2389;2420;2365;2378;2348;2196;2209	ENSP00000295956:A2389T;ENSP00000420213:A2420T;ENSP00000351339:A2365T;ENSP00000415599:A2378T;ENSP00000232447:A2348T;ENSP00000418510:A2196T;ENSP00000414532:A2209T	ENSP00000295956:A2389T	A	+	1	0	FLNB	58124064	1.000000	0.71417	0.942000	0.38095	0.373000	0.29922	9.869000	0.99810	2.602000	0.87976	0.655000	0.94253	GCC		0.582	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
ACOX2	8309	hgsc.bcm.edu	37	3	58510295	58510295	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:58510295G>T	ENST00000302819.5	-	11	1675	c.1384C>A	c.(1384-1386)Cct>Act	p.P462T	ACOX2_ENST00000481527.1_5'Flank|ACOX2_ENST00000459701.2_Missense_Mutation_p.P448T	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	462					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.P462T(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GTGGAGCCAGGGGACATCTGA	0.612																																					p.P462T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1384A	3						.						81.0	73.0	75.0					3																	58510295		2203	4300	6503	58485335	SO:0001583	missense	8309	exon11			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1384C>A	3.37:g.58510295G>T	ENSP00000307697:p.Pro462Thr	Somatic		Capture	SOLID	Phase_I	58485335	NM_003500	A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	G	9.347	1.064428	0.20067	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.13901	2.55;2.56	4.67	-1.87	0.07737	Acyl-CoA dehydrogenase/oxidase C-terminal (1);	1.321200	0.05072	N	0.481834	T	0.08179	0.0204	N	0.13043	0.29	0.09310	N	1	B	0.22276	0.067	B	0.19946	0.027	T	0.38929	-0.9638	10	0.52906	T	0.07	-49.6603	5.5871	0.17281	0.2588:0.4223:0.3189:0.0	.	462	Q99424	ACOX2_HUMAN	T	448;462	ENSP00000418562:P448T;ENSP00000307697:P462T	ENSP00000307697:P462T	P	-	1	0	ACOX2	58485335	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.024000	0.12435	-0.495000	0.06659	-1.246000	0.01523	CCT		0.612	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1		
C3orf67	200844	hgsc.bcm.edu	37	3	58899541	58899541	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:58899541T>C	ENST00000482387.1	-	2	164	c.68A>G	c.(67-69)aAg>aGg	p.K23R	RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000472469.1_Intron|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.K23R|C3orf67_ENST00000491845.1_Missense_Mutation_p.K23R|RP11-147N17.1_ENST00000463703.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	23								p.K23R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AACTGCCCCCTTGAATATTTC	0.393																																					p.K23R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A68G	3						.						116.0	109.0	111.0					3																	58899541		2203	4300	6503	58874581	SO:0001583	missense	200844	exon6			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.68A>G	3.37:g.58899541T>C	ENSP00000417122:p.Lys23Arg	Somatic		Capture	SOLID	Phase_I	58874581	NM_198463	B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37		.	.	.	.	.	.	.	.	.	.	T	16.44	3.124612	0.56613	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000491845;ENST00000471288	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.57	5.57	0.84162	.	0.109437	0.64402	D	0.000011	T	0.44286	0.1286	L	0.33485	1.01	0.38159	D	0.93897	P	0.45474	0.859	B	0.43889	0.435	T	0.46275	-0.9203	9	.	.	.	-20.1193	11.6763	0.51432	0.0:0.0713:0.0:0.9287	.	23	Q6ZVT6-2	.	R	23;23;23;148	ENSP00000295966:K23R;ENSP00000417122:K23R;ENSP00000418832:K23R;ENSP00000417639:K148R	.	K	-	2	0	C3orf67	58874581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.134000	0.50538	2.118000	0.64928	0.528000	0.53228	AAG		0.393	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463	
ATXN7	6314	hgsc.bcm.edu	37	3	63981586	63981586	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:63981586T>C	ENST00000295900.6	+	12	2638	c.2088T>C	c.(2086-2088)agT>agC	p.S696S	ATXN7_ENST00000398590.3_Silent_p.S696S|ATXN7_ENST00000538065.1_Silent_p.S696S|ATXN7_ENST00000484332.1_Silent_p.S551S|ATXN7_ENST00000487717.1_Silent_p.S696S	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	696	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.S696S(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AAAATGCCAGTAGCAGTACCA	0.488																																					p.S696S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2088C	3						.						64.0	76.0	72.0					3																	63981586		2143	4264	6407	63956626	SO:0001819	synonymous_variant	6314	exon11			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2088T>C	3.37:g.63981586T>C		Somatic		Capture	SOLID	Phase_I	63956626	NM_001177387	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	CCDS43102.1																																																																																				0.488	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333	
ASTE1	28990	hgsc.bcm.edu	37	3	130743222	130743223	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	AA	AA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:130743222_130743223delAA	ENST00000264992.3	-	3	1369_1370	c.928_929delTT	c.(928-930)ttcfs	p.F310fs	ASTE1_ENST00000514044.1_Frame_Shift_Del_p.F310fs|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000510688.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	310					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.F310fs*25(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ACCACACTGGAAGAAGTCCTGT	0.431																																					p.310_310del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.928_929del	3						.																																			132225913	SO:0001589	frameshift_variant	28990	exon3			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.928_929delTT	3.37:g.130743222_130743223delAA	ENSP00000264992:p.Phe310fs	Somatic		Capture	SOLID	Phase_I	132225912	NM_014065	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Del	DEL	ENST00000264992.3	37	CCDS3068.1																																																																																				0.431	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065	
FYTTD1	84248	hgsc.bcm.edu	37	3	197503820	197503820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr3:197503820G>T	ENST00000241502.4	+	7	901	c.679G>T	c.(679-681)Gga>Tga	p.G227*	FYTTD1_ENST00000415708.2_Nonsense_Mutation_p.G201*|FYTTD1_ENST00000424384.2_Nonsense_Mutation_p.G160*|FYTTD1_ENST00000428395.2_Nonsense_Mutation_p.G136*	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	227					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.G227*(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		CACCACAAATGGAGGGATTTT	0.313																																					p.G201X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G601T	3						.						113.0	100.0	105.0					3																	197503820		2203	4300	6503	198988217	SO:0001587	stop_gained	84248	exon8			AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"""UAP56-interacting factor"""					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.679G>T	3.37:g.197503820G>T	ENSP00000241502:p.Gly227*	Somatic		Capture	SOLID	Phase_I	198988217	NM_001011537	A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Nonsense_Mutation	SNP	ENST00000241502.4	37	CCDS3329.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780904	0.90282	.	.	ENSG00000122068	ENST00000428738;ENST00000415708;ENST00000428395;ENST00000241502;ENST00000424384	.	.	.	5.6	5.6	0.85130	.	0.169041	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.4926	18.2409	0.89967	0.0:0.0:1.0:0.0	.	.	.	.	X	160;201;136;227;160	.	ENSP00000241502:G227X	G	+	1	0	FYTTD1	198988217	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.340000	0.65958	2.820000	0.97059	0.644000	0.83932	GGA		0.313	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288	
SLC5A8	160728	hgsc.bcm.edu	37	12	101603327	101603327	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:101603327C>T	ENST00000536262.2	-	1	858	c.300G>A	c.(298-300)gcG>gcA	p.A100A		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.A100A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGAAGACCTCCGCGCTGATGA	0.597																																					p.A100A	GBM(60;420 1056 13605 22380 47675)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G300A	12						.						52.0	45.0	47.0					12																	101603327		2203	4300	6503	100127458	SO:0001819	synonymous_variant	160728	exon1			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.300G>A	12.37:g.101603327C>T		Somatic		Capture	SOLID	Phase_I	100127458	NM_145913		Silent	SNP	ENST00000536262.2	37	CCDS9080.1																																																																																				0.597	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
NT5DC3	51559	hgsc.bcm.edu	37	12	104192413	104192413	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:104192413G>A	ENST00000392876.3	-	5	607	c.567C>T	c.(565-567)taC>taT	p.Y189Y	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	189						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Y114Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GGGACCCCTCGTACATTTCAA	0.428																																					p.Y189Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C567T	12						.						103.0	92.0	96.0					12																	104192413		2203	4300	6503	102716543	SO:0001819	synonymous_variant	51559	exon5			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.567C>T	12.37:g.104192413G>A		Somatic		Capture	SOLID	Phase_I	102716543	NM_001031701	Q9NUM7|Q9P2T2|Q9P2T3	Silent	SNP	ENST00000392876.3	37	CCDS41824.1																																																																																				0.428	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575	
CKAP4	10970	hgsc.bcm.edu	37	12	106632900	106632900	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:106632900C>T	ENST00000378026.4	-	2	1847	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	571						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.E571K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AGATTGTTCTCGTTGGTTTCT	0.448																																					p.E571K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1711A	12						.						159.0	152.0	155.0					12																	106632900		2203	4300	6503	105157030	SO:0001583	missense	10970	exon2			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1711G>A	12.37:g.106632900C>T	ENSP00000367265:p.Glu571Lys	Somatic		Capture	SOLID	Phase_I	105157030	NM_006825	Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807656	0.70797	.	.	ENSG00000136026	ENST00000378026	T	0.54279	0.58	5.79	3.96	0.45880	.	0.261168	0.43747	D	0.000523	T	0.41166	0.1147	M	0.74258	2.255	0.40048	D	0.975733	P	0.42248	0.774	B	0.27715	0.082	T	0.39482	-0.9612	10	0.21540	T	0.41	-44.9504	7.5731	0.27920	0.0:0.6191:0.2416:0.1393	.	571	Q07065	CKAP4_HUMAN	K	571	ENSP00000367265:E571K	ENSP00000367265:E571K	E	-	1	0	CKAP4	105157030	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.144000	0.42197	1.449000	0.47699	0.650000	0.86243	GAG		0.448	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1		
TCP11L2	255394	hgsc.bcm.edu	37	12	106708244	106708244	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:106708244T>C	ENST00000299045.3	+	3	440	c.266T>C	c.(265-267)tTg>tCg	p.L89S	TCP11L2_ENST00000546625.1_Missense_Mutation_p.L89S|TCP11L2_ENST00000547153.1_Missense_Mutation_p.L89S	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	89								p.L89S(1)		endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AACTTTCAATTGAAACAAGAG	0.418																																					p.L89S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T266C	12						.						74.0	77.0	76.0					12																	106708244		2203	4300	6503	105232374	SO:0001583	missense	255394	exon3			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.266T>C	12.37:g.106708244T>C	ENSP00000299045:p.Leu89Ser	Somatic		Capture	SOLID	Phase_I	105232374	NM_152772	B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283284	0.80803	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098;ENST00000551802;ENST00000548428	T;T;T;T;T;T	0.44083	2.58;2.58;2.58;2.58;2.58;0.93	5.82	5.82	0.92795	.	0.491076	0.21319	N	0.076506	T	0.65780	0.2724	M	0.79805	2.47	0.53688	D	0.999977	D;D;D	0.56746	0.966;0.977;0.963	P;D;P	0.63488	0.868;0.915;0.626	T	0.69064	-0.5244	10	0.59425	D	0.04	-4.5507	16.1697	0.81793	0.0:0.0:0.0:1.0	.	89;89;89	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	S	89	ENSP00000448952:L89S;ENSP00000299045:L89S;ENSP00000449123:L89S;ENSP00000448629:L89S;ENSP00000447174:L89S;ENSP00000447457:L89S	ENSP00000299045:L89S	L	+	2	0	TCP11L2	105232374	1.000000	0.71417	0.880000	0.34516	0.493000	0.33554	7.380000	0.79704	2.221000	0.72209	0.533000	0.62120	TTG		0.418	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772	
RIC8B	55188	hgsc.bcm.edu	37	12	107208910	107208910	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:107208910C>T	ENST00000392839.2	+	3	675	c.569C>T	c.(568-570)cCg>cTg	p.P190L	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.P150L|RIC8B_ENST00000392837.4_Missense_Mutation_p.P190L	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	190					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.P190L(1)		kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CAGGGACTACCGCTGCTAACG	0.488																																					p.P190L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C569T	12						.						145.0	128.0	134.0					12																	107208910		2203	4300	6503	105733040	SO:0001583	missense	55188	exon3			AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.569C>T	12.37:g.107208910C>T	ENSP00000376583:p.Pro190Leu	Somatic		Capture	SOLID	Phase_I	105733040	NM_018157	A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268104	0.40095	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478	T;T;T	0.54866	0.55;0.55;0.55	5.91	5.91	0.95273	Armadillo-type fold (1);	0.416260	0.29668	N	0.011510	T	0.46983	0.1421	L	0.40543	1.245	0.80722	D	1	P;D;D	0.54601	0.769;0.958;0.967	B;B;B	0.43783	0.121;0.353;0.431	T	0.31503	-0.9941	10	0.23891	T	0.37	-0.8286	15.936	0.79707	0.143:0.857:0.0:0.0	.	150;190;190	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	L	190;190;150	ENSP00000376582:P190L;ENSP00000376583:P190L;ENSP00000347662:P150L	ENSP00000347662:P150L	P	+	2	0	RIC8B	105733040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.465000	0.35299	2.813000	0.96785	0.655000	0.94253	CCG		0.488	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157	
YBX3	8531	hgsc.bcm.edu	37	12	10854630	10854630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:10854630C>A	ENST00000228251.4	-	8	1182	c.982G>T	c.(982-984)Gga>Tga	p.G328*	YBX3_ENST00000279550.7_Nonsense_Mutation_p.G259*|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	328					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.G328*(1)									CGCCGGTATCCACGGCGAACA	0.582																																					p.G259X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G775T	12						.						155.0	142.0	146.0					12																	10854630		2203	4300	6503	10745897	SO:0001587	stop_gained	8531	exon7			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.982G>T	12.37:g.10854630C>A	ENSP00000228251:p.Gly328*	Somatic		Capture	SOLID	Phase_I	10745897	NM_001145426	B2RBW6|Q14121|Q969N6|Q96B76	Nonsense_Mutation	SNP	ENST00000228251.4	37	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	C	37	6.617301	0.97709	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	.	.	.	4.88	4.88	0.63580	.	0.074791	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	15.4944	0.75637	0.0:1.0:0.0:0.0	.	.	.	.	X	259;328	.	ENSP00000228251:G328X	G	-	1	0	CSDA	10745897	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.872000	0.63050	2.243000	0.73865	0.655000	0.94253	GGA		0.582	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651	
BTBD11	121551	hgsc.bcm.edu	37	12	108004006	108004006	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:108004006G>T	ENST00000280758.5	+	5	2211	c.1683G>T	c.(1681-1683)gcG>gcT	p.A561A	BTBD11_ENST00000420571.2_Silent_p.A561A|BTBD11_ENST00000490090.2_Silent_p.A561A|BTBD11_ENST00000357167.4_Silent_p.A98A|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	561						integral component of membrane (GO:0016021)		p.A561A(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGCTGGATGCGGTGGCCATCG	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A98A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G294T	12						.						140.0	121.0	128.0					12																	108004006		2203	4300	6503	106528136	SO:0001819	synonymous_variant	121551	exon3			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1683G>T	12.37:g.108004006G>T		Somatic	21	Capture	SOLID	Phase_I	106528136	NM_001017523	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	CCDS31893.1																																																																																				0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
TMEM119	338773	hgsc.bcm.edu	37	12	108985886	108985886	+	Missense_Mutation	SNP	G	G	A	rs374738786		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:108985886G>A	ENST00000392806.3	-	2	442	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	92					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R92C(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						ACGTACTGGCGGAAGAAGTCC	0.632																																					p.R92C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C274T	12						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	103.0	102.0	102.0		274	2.5	1.0	12		102	0,8600		0,0,4300	no	missense	TMEM119	NM_181724.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	92/284	108985886	1,13005	2203	4300	6503	107510015	SO:0001583	missense	338773	exon2			AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.274C>T	12.37:g.108985886G>A	ENSP00000376553:p.Arg92Cys	Somatic		Capture	SOLID	Phase_I	107510015	NM_181724	Q6UXE5|Q8N2F5	Missense_Mutation	SNP	ENST00000392806.3	37	CCDS9119.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514445	0.64522	2.27E-4	0.0	ENSG00000183160	ENST00000392806;ENST00000433191;ENST00000549031	T;T	0.49720	0.77;0.79	4.59	2.54	0.30619	.	0.299070	0.30085	N	0.010448	T	0.57460	0.2055	M	0.63428	1.95	0.44762	D	0.997768	D	0.76494	0.999	P	0.56700	0.804	T	0.63519	-0.6619	10	0.87932	D	0	-11.2472	12.4789	0.55831	0.0:0.0:0.5299:0.4701	.	92	Q4V9L6	TM119_HUMAN	C	92;26;92	ENSP00000376553:R92C;ENSP00000448583:R92C	ENSP00000376553:R92C	R	-	1	0	TMEM119	107510015	0.995000	0.38212	1.000000	0.80357	0.869000	0.49853	1.389000	0.34453	1.030000	0.39839	0.400000	0.26472	CGC		0.632	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724	
ACACB	32	hgsc.bcm.edu	37	12	109605763	109605763	+	Silent	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:109605763C>A	ENST00000338432.7	+	4	968	c.849C>A	c.(847-849)gcC>gcA	p.A283A	ACACB_ENST00000377854.5_Silent_p.A283A|ACACB_ENST00000377848.3_Silent_p.A283A			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	283	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.A283A(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GCAGGTGGGCCTATGAGATGT	0.582																																					p.A283A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C849A	12						.						159.0	104.0	122.0					12																	109605763		2203	4300	6503	108090146	SO:0001819	synonymous_variant	32	exon3			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.849C>A	12.37:g.109605763C>A		Somatic		Capture	SOLID	Phase_I	108090146	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	CCDS31898.1																																																																																				0.582	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
ACACB	32	hgsc.bcm.edu	37	12	109647069	109647069	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:109647069C>A	ENST00000338432.7	+	21	3279	c.3160C>A	c.(3160-3162)Ccc>Acc	p.P1054T	ACACB_ENST00000377854.5_Missense_Mutation_p.P1054T|ACACB_ENST00000377848.3_Missense_Mutation_p.P1054T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1054					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AGGCCGCATCCCCGCCCCTGT	0.647																																					p.P1054T												.	.	0			c.C3160A	12						.						38.0	33.0	35.0					12																	109647069		2202	4298	6500	108131452	SO:0001583	missense	32	exon20			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3160C>A	12.37:g.109647069C>A	ENSP00000341044:p.Pro1054Thr	Somatic		Capture	SOLID	Phase_I	108131452	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974047	0.53720	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.57907	0.37;0.37;0.37	5.42	5.42	0.78866	Acetyl-CoA carboxylase, central domain (1);	0.052948	0.85682	D	0.000000	T	0.77418	0.4127	M	0.91663	3.23	0.80722	D	1	D	0.55605	0.972	P	0.60415	0.874	T	0.82954	-0.0201	10	0.87932	D	0	.	19.2418	0.93887	0.0:1.0:0.0:0.0	.	1054	O00763	ACACB_HUMAN	T	1054;1054;1054;285	ENSP00000341044:P1054T;ENSP00000367079:P1054T;ENSP00000367085:P1054T	ENSP00000341044:P1054T	P	+	1	0	ACACB	108131452	1.000000	0.71417	0.998000	0.56505	0.136000	0.21042	5.916000	0.69981	2.537000	0.85549	0.655000	0.94253	CCC		0.647	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
PPTC7	160760	hgsc.bcm.edu	37	12	110989598	110989598	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:110989598C>T	ENST00000354300.3	-	2	687	c.399G>A	c.(397-399)ttG>ttA	p.L133L		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	133	PP2C-like.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.L133L(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						ACTTACCGAGCAAAGGGACTT	0.398																																					p.L133L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G399A	12						.						150.0	140.0	143.0					12																	110989598		2203	4300	6503	109473981	SO:0001819	synonymous_variant	160760	exon2			AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.399G>A	12.37:g.110989598C>T		Somatic		Capture	SOLID	Phase_I	109473981	NM_139283	B3KWC5|Q68DZ7|Q6UY82	Silent	SNP	ENST00000354300.3	37	CCDS9149.1																																																																																				0.398	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404635.1	NM_139283	
ALDH2	217	hgsc.bcm.edu	37	12	112228277	112228277	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:112228277C>T	ENST00000261733.2	+	6	653	c.592C>T	c.(592-594)Cca>Tca	p.P198S	ALDH2_ENST00000416293.3_Missense_Mutation_p.P151S|RP11-162P23.2_ENST00000546840.2_Silent_p.A194A	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	198					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)	p.P198S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	GAAGCTGGGCCCAGCCTTGGC	0.552			T	HMGA2	leiomyoma																																p.P198S			Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C592T	12						.						130.0	106.0	114.0					12																	112228277		2203	4300	6503	110712660	SO:0001583	missense	217	exon6			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.592C>T	12.37:g.112228277C>T	ENSP00000261733:p.Pro198Ser	Somatic		Capture	SOLID	Phase_I	110712660	NM_000690	B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317626	0.95682	.	.	ENSG00000257767;ENSG00000111275;ENSG00000111275;ENSG00000111275	ENST00000546840;ENST00000416293;ENST00000261733;ENST00000552234	T;T	0.80123	-1.34;-1.34	5.67	5.67	0.87782	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.92008	0.7468	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.982;0.991	D	0.93015	0.6435	10	0.87932	D	0	.	19.7785	0.96405	0.0:1.0:0.0:0.0	.	151;198	E7EUE5;P05091	.;ALDH2_HUMAN	S	179;151;198;58	ENSP00000403349:P151S;ENSP00000261733:P198S	ENSP00000261733:P198S	P	+	1	0	ALDH2;RP11-162P23.2	110712660	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.667000	0.90743	0.563000	0.77884	CCA		0.552	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690	
RBM19	9904	hgsc.bcm.edu	37	12	114395727	114395727	+	Missense_Mutation	SNP	C	C	T	rs78452290	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:114395727C>T	ENST00000545145.2	-	6	778	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	RBM19_ENST00000392561.3_Missense_Mutation_p.V234M|RBM19_ENST00000261741.5_Missense_Mutation_p.V234M	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	234					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V234M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCACAGTGCACGGCTTCATCT	0.557													C|||	85	0.0169728	0.0605	0.0058	5008	,	,		18819	0.0		0.001	False		,,,				2504	0.0				p.V234M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G700A	12						.	C	MET/VAL,MET/VAL,MET/VAL	237,4169	141.1+/-176.5	7,223,1973	168.0	143.0	151.0		700,700,700	3.1	0.9	12	dbSNP_131	151	1,8599	2.2+/-6.3	0,1,4299	yes	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	21,21,21	7,224,6272	TT,TC,CC		0.0116,5.379,1.8299	benign,benign,benign	234/961,234/961,234/961	114395727	238,12768	2203	4300	6503	112880110	SO:0001583	missense	9904	exon6			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.700G>A	12.37:g.114395727C>T	ENSP00000442053:p.Val234Met	Somatic		Capture	SOLID	Phase_I	112880110	NM_016196	A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	19	0.0086996336996337	17	0.034552845528455285	2	0.0055248618784530384	0	0.0	0	0.0	C	12.90	2.077871	0.36662	0.05379	1.16E-4	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05081	3.5;3.5;3.5	5.04	3.08	0.35506	Nucleotide-binding, alpha-beta plait (1);	0.531678	0.17101	N	0.186991	T	0.00784	0.0026	L	0.36672	1.1	0.26290	N	0.978147	B	0.30605	0.287	B	0.19391	0.025	T	0.32613	-0.9900	10	0.48119	T	0.1	-25.3684	10.2403	0.43308	0.0:0.8234:0.0:0.1766	.	234	Q9Y4C8	RBM19_HUMAN	M	234	ENSP00000442053:V234M;ENSP00000376344:V234M;ENSP00000261741:V234M	ENSP00000261741:V234M	V	-	1	0	RBM19	112880110	0.052000	0.20516	0.950000	0.38849	0.937000	0.57800	0.654000	0.24918	1.370000	0.46153	0.655000	0.94253	GTG		0.557	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	
TBX3	6926	hgsc.bcm.edu	37	12	115112444	115112444	+	Silent	SNP	C	C	T	rs62640916	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:115112444C>T	ENST00000257566.3	-	7	1685	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	TBX3_ENST00000349155.2_Silent_p.S412S	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	432					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S432S(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GTGAGTCGGGCGACGCTTTGT	0.731																																					p.S412S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1236A	12						.						16.0	21.0	19.0					12																	115112444		2201	4293	6494	113596827	SO:0001819	synonymous_variant	6926	exon6			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1296G>A	12.37:g.115112444C>T		Somatic		Capture	SOLID	Phase_I	113596827	NM_005996	Q8TB20|Q9UKF8	Silent	SNP	ENST00000257566.3	37	CCDS9176.1																																																																																				0.731	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996	
HNF1A	6927	hgsc.bcm.edu	37	12	121432114	121432114	+	Silent	SNP	C	C	T	rs570915522		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:121432114C>T	ENST00000257555.6	+	4	1087	c.861C>T	c.(859-861)agC>agT	p.S287S	HNF1A_ENST00000543427.1_Silent_p.S170S|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.S287S|HNF1A_ENST00000402929.1_Silent_p.S287S|HNF1A_ENST00000400024.2_Silent_p.S287S|HNF1A_ENST00000541395.1_Silent_p.S287S			P20823	HNF1A_HUMAN	HNF1 homeobox A	287					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S287S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACACGTACAGCGGGCCCCCCC	0.667									Hepatic Adenoma, Familial Clustering of				c|||	1	0.000199681	0.0	0.0	5008	,	,		17239	0.001		0.0	False		,,,				2504	0.0				p.S287S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C861T	12						.						26.0	26.0	26.0					12																	121432114		2203	4298	6501	119916497	SO:0001819	synonymous_variant	6927	exon4	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.861C>T	12.37:g.121432114C>T		Somatic		Capture	SOLID	Phase_I	119916497	NM_000545	A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000257555.6	37	CCDS9209.1																																																																																				0.667	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545	
HPD	3242	hgsc.bcm.edu	37	12	122287620	122287620	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:122287620G>A	ENST00000289004.4	-	8	526	c.491C>T	c.(490-492)gCg>gTg	p.A164V	HPD_ENST00000543869.2_5'UTR|HPD_ENST00000543163.1_Missense_Mutation_p.A125V	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	164					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)	p.A164V(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GTCCATGAACGCTGGGGCCTC	0.552																																					p.A164V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C491T	12						.						126.0	107.0	113.0					12																	122287620		2203	4300	6503	120772003	SO:0001583	missense	3242	exon8			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.491C>T	12.37:g.122287620G>A	ENSP00000289004:p.Ala164Val	Somatic		Capture	SOLID	Phase_I	120772003	NM_002150	A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476769	0.26511	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.61859	0.07;0.07	5.41	-6.28	0.02020	.	1.955520	0.02734	N	0.115407	T	0.28267	0.0698	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15492	-1.0435	10	0.23302	T	0.38	3.7653	7.4147	0.27038	0.5576:0.2125:0.2299:0.0	.	164	P32754	HPPD_HUMAN	V	164;161;125	ENSP00000289004:A164V;ENSP00000441677:A125V	ENSP00000289004:A164V	A	-	2	0	HPD	120772003	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.120000	0.15647	-0.650000	0.05423	-1.170000	0.01741	GCG		0.552	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150	
LRP6	4040	hgsc.bcm.edu	37	12	12397354	12397354	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:12397354G>A	ENST00000261349.4	-	2	367	c.291C>T	c.(289-291)ccC>ccT	p.P97P	LRP6_ENST00000543091.1_Silent_p.P97P	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	97	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P97P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCAGCCCATCGGGGGACAATA	0.388																																					p.P97P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C291T	12						.						105.0	97.0	99.0					12																	12397354		2203	4300	6503	12288621	SO:0001819	synonymous_variant	4040	exon2			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.291C>T	12.37:g.12397354G>A		Somatic		Capture	SOLID	Phase_I	12288621	NM_002336	Q17RZ2	Silent	SNP	ENST00000261349.4	37	CCDS8647.1																																																																																				0.388	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		
CLIP1	6249	hgsc.bcm.edu	37	12	122817687	122817687	+	Missense_Mutation	SNP	A	A	G	rs372008866	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:122817687A>G	ENST00000540338.1	-	14	2755	c.2714T>C	c.(2713-2715)aTg>aCg	p.M905T	CLIP1_ENST00000545889.1_Missense_Mutation_p.M480T|CLIP1_ENST00000358808.2_Missense_Mutation_p.M894T|CLIP1_ENST00000361654.4_Missense_Mutation_p.M783T|CLIP1_ENST00000537178.1_Missense_Mutation_p.M859T|CLIP1_ENST00000302528.7_Missense_Mutation_p.M894T			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	905					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.M894T(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTTTGCCTCCATATCTAAATA	0.343													A|||	3	0.000599042	0.0	0.0	5008	,	,		18217	0.003		0.0	False		,,,				2504	0.0				p.M859T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2576C	12						.						103.0	92.0	96.0					12																	122817687		2201	4297	6498	121383640	SO:0001583	missense	6249	exon13				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2714T>C	12.37:g.122817687A>G	ENSP00000439093:p.Met905Thr	Somatic		Capture	SOLID	Phase_I	121383640	NM_198240	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.624643	0.66901	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;D	0.82433	2.69;-1.07;-1.07;0.7;0.71;-1.61	5.49	5.49	0.81192	.	0.164283	0.64402	N	0.000016	D	0.84352	0.5453	M	0.63428	1.95	0.48135	D	0.999599	P;P;P	0.41345	0.746;0.746;0.629	P;P;B	0.47470	0.548;0.548;0.346	T	0.81579	-0.0868	10	0.18710	T	0.47	-21.8116	15.5911	0.76530	1.0:0.0:0.0:0.0	.	859;894;905	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	T	480;894;894;624;859;905;752	ENSP00000438743:M480T;ENSP00000303585:M894T;ENSP00000351665:M894T;ENSP00000445531:M859T;ENSP00000439093:M905T;ENSP00000437786:M752T	ENSP00000303585:M894T	M	-	2	0	CLIP1	121383640	1.000000	0.71417	0.999000	0.59377	0.824000	0.46624	8.663000	0.91134	2.085000	0.62840	0.379000	0.24179	ATG		0.343	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	
SLC15A4	121260	hgsc.bcm.edu	37	12	129299482	129299482	+	Missense_Mutation	SNP	G	G	A	rs376967004	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:129299482G>A	ENST00000266771.5	-	2	719	c.680C>T	c.(679-681)gCg>gTg	p.A227V	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	227					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)	p.A227V(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		AGTGGGGATCGCATAACCAGT	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		19073	0.0		0.0	False		,,,				2504	0.002				p.A227V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C680T	12						.	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	218.0	199.0	206.0		680	-3.1	0.0	12		206	0,8600		0,0,4300	no	missense	SLC15A4	NM_145648.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	227/578	129299482	1,13005	2203	4300	6503	127865435	SO:0001583	missense	121260	exon2			AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.680C>T	12.37:g.129299482G>A	ENSP00000266771:p.Ala227Val	Somatic		Capture	SOLID	Phase_I	127865435	NM_145648	A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270821	0.23221	2.27E-4	0.0	ENSG00000139370	ENST00000266771	T	0.58506	0.33	5.79	-3.06	0.05379	Major facilitator superfamily domain, general substrate transporter (1);	1.494670	0.04668	N	0.410132	T	0.41858	0.1177	N	0.21373	0.66	0.09310	N	0.999991	B	0.22080	0.064	B	0.20184	0.028	T	0.31806	-0.9930	10	0.36615	T	0.2	.	9.1126	0.36737	0.4428:0.1099:0.4473:0.0	.	227	Q8N697	S15A4_HUMAN	V	227	ENSP00000266771:A227V	ENSP00000266771:A227V	A	-	2	0	SLC15A4	127865435	1.000000	0.71417	0.003000	0.11579	0.583000	0.36354	2.423000	0.44705	-0.468000	0.06922	-0.140000	0.14226	GCG		0.498	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648	
RIMBP2	23504	hgsc.bcm.edu	37	12	130963507	130963507	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:130963507C>T	ENST00000261655.4	-	3	215	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	18					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A18T(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACAGCCAGGGCCTGGTCATGC	0.662																																					p.A18T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G52A	12						.						54.0	55.0	55.0					12																	130963507		2203	4300	6503	129529460	SO:0001583	missense	23504	exon3			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.52G>A	12.37:g.130963507C>T	ENSP00000261655:p.Ala18Thr	Somatic		Capture	SOLID	Phase_I	129529460	NM_015347	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987184	0.93106	.	.	ENSG00000060709	ENST00000261655	T	0.39997	1.05	4.01	4.01	0.46588	.	0.075781	0.51477	D	0.000081	T	0.65112	0.2660	M	0.80746	2.51	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.69859	-0.5031	10	0.49607	T	0.09	-22.1036	14.8603	0.70376	0.0:1.0:0.0:0.0	.	18	O15034	RIMB2_HUMAN	T	18	ENSP00000261655:A18T	ENSP00000261655:A18T	A	-	1	0	RIMBP2	129529460	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.697000	0.74603	1.788000	0.52465	0.491000	0.48974	GCC		0.662	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
EP400	57634	hgsc.bcm.edu	37	12	132466747	132466747	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:132466747C>A	ENST00000333577.4	+	6	1870	c.1761C>A	c.(1759-1761)caC>caA	p.H587Q	EP400_ENST00000330386.6_Missense_Mutation_p.H551Q|EP400_ENST00000389562.2_Missense_Mutation_p.H550Q|EP400_ENST00000332482.4_Missense_Mutation_p.H514Q|EP400_ENST00000389561.2_Missense_Mutation_p.H551Q			Q96L91	EP400_HUMAN	E1A binding protein p400	587					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAGCTTGCACACCCCACTGC	0.697																																					p.H550Q												.	.	0			c.C1650A	12						.						43.0	51.0	48.0					12																	132466747		2203	4300	6503	131032700	SO:0001583	missense	57634	exon5			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1761C>A	12.37:g.132466747C>A	ENSP00000333602:p.His587Gln	Somatic		Capture	SOLID	Phase_I	131032700	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	C	11.83	1.756634	0.31137	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.93659	-3.26;-3.14;-2.75;-2.69;-2.71	5.62	3.44	0.39384	.	0.000000	0.85682	D	0.000000	D	0.95529	0.8547	M	0.67953	2.075	0.32687	N	0.514686	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	D	0.96094	0.9064	10	0.56958	D	0.05	.	12.3625	0.55211	0.0:0.7834:0.0:0.2166	.	551;551;550;587;514	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	Q	514;587;551;550;514;551;587;551;551	ENSP00000333602:H587Q;ENSP00000374212:H551Q;ENSP00000374213:H550Q;ENSP00000331737:H514Q;ENSP00000330620:H551Q	ENSP00000330620:H551Q	H	+	3	2	EP400	131032700	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	1.144000	0.31565	1.342000	0.45619	0.655000	0.94253	CAC		0.697	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
DCP1B	196513	hgsc.bcm.edu	37	12	2061665	2061665	+	Missense_Mutation	SNP	C	C	A	rs186204171		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:2061665C>A	ENST00000280665.6	-	7	1520	c.1441G>T	c.(1441-1443)Gct>Tct	p.A481S	DCP1B_ENST00000397173.4_Missense_Mutation_p.A379S|DCP1B_ENST00000541700.1_5'Flank|DCP1B_ENST00000540622.1_Missense_Mutation_p.A355S	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	481					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.A481S(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GAGCTCTGAGCGAGCACAGGA	0.522																																					p.A481S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1441T	12						.						81.0	83.0	82.0					12																	2061665		2203	4300	6503	1931926	SO:0001583	missense	196513	exon7			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1441G>T	12.37:g.2061665C>A	ENSP00000280665:p.Ala481Ser	Somatic		Capture	SOLID	Phase_I	1931926	NM_152640	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	8.354	0.831610	0.16820	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19669	2.13;2.18;2.28	4.73	-6.47	0.01902	.	0.528950	0.17824	N	0.160755	T	0.05044	0.0135	N	0.04508	-0.205	0.09310	N	1	B;B	0.12630	0.006;0.004	B;B	0.08055	0.002;0.003	T	0.28618	-1.0038	10	0.12430	T	0.62	-0.0155	2.3528	0.04288	0.1074:0.3746:0.2175:0.3005	.	379;481	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	S	481;379;355	ENSP00000280665:A481S;ENSP00000380358:A379S;ENSP00000444374:A355S	ENSP00000280665:A481S	A	-	1	0	DCP1B	1931926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.383000	0.07398	-1.503000	0.01812	-2.209000	0.00301	GCT		0.522	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640	
TEAD4	7004	hgsc.bcm.edu	37	12	3131010	3131010	+	Splice_Site	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:3131010T>C	ENST00000397122.2	+	8	622	c.337T>C	c.(337-339)Tac>Cac	p.Y113H	TEAD4_ENST00000359864.2_Splice_Site_p.Y242H|TEAD4_ENST00000358409.2_Splice_Site_p.Y199H	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	242					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y242H(1)		endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			ctctcCACAGTACAACAAGCA	0.597																																					p.Y242H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T724C	12						.						99.0	93.0	95.0					12																	3131010		2203	4300	6503	3001271	SO:0001630	splice_region_variant	7004	exon10			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.337-1T>C	12.37:g.3131010T>C		Somatic		Capture	SOLID	Phase_I	3001271	NM_003213	H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000397122.2	37	CCDS41737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.957304|3.957304	0.73902|0.73902	.|.	.|.	ENSG00000197905|ENSG00000197905	ENST00000544666|ENST00000358409;ENST00000359864;ENST00000397122	.|T;T;T	.|0.36878	.|1.23;1.23;1.23	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	.|0.305092	.|0.32987	.|N	.|0.005414	T|T	0.51719|0.51719	0.1691|0.1691	M|M	0.92026|0.92026	3.265|3.265	0.80722|0.80722	D|D	1|1	.|P	.|0.39443	.|0.674	.|B	.|0.43194	.|0.411	T|T	0.61758|0.61758	-0.6997|-0.6997	5|9	.|.	.|.	.|.	-20.5177|-20.5177	12.3261|12.3261	0.55011|0.55011	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|242	.|Q15561	.|TEAD4_HUMAN	A|H	164|199;242;113	.|ENSP00000351184:Y199H;ENSP00000352926:Y242H;ENSP00000380311:Y113H	.|.	V|Y	+|+	2|1	0|0	TEAD4|TEAD4	3001271|3001271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.705000|0.705000	0.40729|0.40729	7.841000|7.841000	0.86834|0.86834	1.702000|1.702000	0.51228|0.51228	0.459000|0.459000	0.35465|0.35465	GTA|TAC		0.597	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213	Missense_Mutation
C12orf4	57102	hgsc.bcm.edu	37	12	4627276	4627276	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:4627276G>A	ENST00000261250.3	-	8	1068	c.981C>T	c.(979-981)ggC>ggT	p.G327G	C12orf4_ENST00000545746.1_Silent_p.G327G	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	327								p.G327G(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		GTAAAACCAGGCCACAGAGAG	0.338																																					p.G327G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C981T	12						.						115.0	121.0	119.0					12																	4627276		2203	4300	6503	4497537	SO:0001819	synonymous_variant	57102	exon8			AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.981C>T	12.37:g.4627276G>A		Somatic		Capture	SOLID	Phase_I	4497537	NM_020374	D3DUQ8|Q6MZH5	Silent	SNP	ENST00000261250.3	37	CCDS8528.1																																																																																				0.338	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374	
NDUFA9	4704	hgsc.bcm.edu	37	12	4794481	4794481	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:4794481A>G	ENST00000266544.5	+	10	973	c.953A>G	c.(952-954)aAa>aGa	p.K318R	RP11-234B24.6_ENST00000544741.2_Missense_Mutation_p.K77R|NDUFA9_ENST00000540688.1_Missense_Mutation_p.K77R	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	318					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)	p.K318R(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						ACAAGGGATAAAGTGGAGCGG	0.463																																					p.K318R	Colon(75;996 1244 23946 25294 29232)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A953G	12						.						129.0	118.0	122.0					12																	4794481		2203	4300	6503	4664742	SO:0001583	missense	4704	exon10			AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.953A>G	12.37:g.4794481A>G	ENSP00000266544:p.Lys318Arg	Somatic		Capture	SOLID	Phase_I	4664742	NM_005002	Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.394441	0.83011	.	.	ENSG00000139180	ENST00000266544;ENST00000540688	T;T	0.80123	-1.02;-1.34	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.84474	0.5480	M	0.70842	2.15	0.58432	D	0.999995	D	0.59357	0.985	P	0.55871	0.786	T	0.81982	-0.0683	10	0.13853	T	0.58	-5.1085	14.0924	0.65000	1.0:0.0:0.0:0.0	.	318	Q16795	NDUA9_HUMAN	R	318;77	ENSP00000266544:K318R;ENSP00000439818:K77R	ENSP00000266544:K318R	K	+	2	0	NDUFA9	4664742	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	8.125000	0.89590	2.012000	0.59069	0.533000	0.62120	AAA		0.463	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002	
VWF	7450	hgsc.bcm.edu	37	12	6127765	6127765	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:6127765C>T	ENST00000261405.5	-	28	5073	c.4819G>A	c.(4819-4821)Gtc>Atc	p.V1607I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1607	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.		V -> D (in VWD2). {ECO:0000269|PubMed:2786201}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTTCCGGTGACCATGTAGACC	0.607																																					p.V1607I												.	.	0			c.G4819A	12						.						56.0	54.0	55.0					12																	6127765		2203	4300	6503	5998026	SO:0001583	missense	7450	exon28				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4819G>A	12.37:g.6127765C>T	ENSP00000261405:p.Val1607Ile	Somatic		Capture	SOLID	Phase_I	5998026	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	17.22	3.333508	0.60853	.	.	ENSG00000110799	ENST00000261405	T	0.75704	-0.96	4.94	4.94	0.65067	von Willebrand factor, type A (3);	0.000000	0.40222	N	0.001152	T	0.79701	0.4491	L	0.51914	1.62	0.80722	D	1	P	0.35077	0.483	P	0.49637	0.617	T	0.76594	-0.2902	10	0.33940	T	0.23	.	17.4982	0.87724	0.0:1.0:0.0:0.0	.	1607	P04275	VWF_HUMAN	I	1607	ENSP00000261405:V1607I	ENSP00000261405:V1607I	V	-	1	0	VWF	5998026	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.993000	0.49425	2.606000	0.88127	0.543000	0.68304	GTC		0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
GNB3	2784	hgsc.bcm.edu	37	12	6953099	6953099	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:6953099G>A	ENST00000229264.3	+	9	1061	c.656G>A	c.(655-657)cGt>cAt	p.R219H	CDCA3_ENST00000604599.1_5'Flank|GNB3_ENST00000435982.2_Missense_Mutation_p.R218H	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	219					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.R219H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GGGACCTGCCGTCAGACTTTC	0.592																																					p.R219H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G656A	12						.						78.0	74.0	76.0					12																	6953099		2203	4300	6503	6823360	SO:0001583	missense	2784	exon9				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.656G>A	12.37:g.6953099G>A	ENSP00000229264:p.Arg219His	Somatic		Capture	SOLID	Phase_I	6823360	NM_002075	Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.764907	0.69878	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000435982;ENST00000537035	T;T;T;T	0.60040	0.22;5.01;0.22;0.22	5.46	5.46	0.80206	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	L	0.41079	1.255	0.80722	D	1	P;P	0.51791	0.948;0.915	P;P	0.52454	0.699;0.516	T	0.55431	-0.8142	10	0.25106	T	0.35	4.0868	19.3249	0.94258	0.0:0.0:1.0:0.0	.	218;219	E9PCP0;P16520	.;GBB3_HUMAN	H	219;218;218;178	ENSP00000229264:R219H;ENSP00000442002:R218H;ENSP00000414734:R218H;ENSP00000445967:R178H	ENSP00000229264:R219H	R	+	2	0	GNB3	6823360	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	7.682000	0.84083	2.567000	0.86603	0.561000	0.74099	CGT		0.592	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075	
CLEC4A	50856	hgsc.bcm.edu	37	12	8290815	8290815	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:8290815G>A	ENST00000229332.5	+	6	893	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	CLEC4A_ENST00000360500.3_Missense_Mutation_p.G177S|CLEC4A_ENST00000345999.3_Missense_Mutation_p.G144S|CLEC4A_ENST00000352620.3_Missense_Mutation_p.G183S	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	216	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.G216S(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CAAAAGATGGGGCTGGAATGA	0.443																																					p.G183S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G547A	12						.						204.0	177.0	186.0					12																	8290815		2203	4300	6503	8182082	SO:0001583	missense	50856	exon5			AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.646G>A	12.37:g.8290815G>A	ENSP00000229332:p.Gly216Ser	Somatic		Capture	SOLID	Phase_I	8182082	NM_194450	Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	CCDS8590.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597775	0.46318	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	3.98	3.09	0.35607	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.38326	N	0.001721	T	0.47746	0.1462	M	0.67517	2.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.998;0.999	T	0.41484	-0.9506	10	0.48119	T	0.1	.	7.4625	0.27304	0.1169:0.0:0.8831:0.0	.	177;144;183;216	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	S	216;144;183;177	ENSP00000229332:G216S;ENSP00000344646:G144S;ENSP00000247243:G183S;ENSP00000353690:G177S	ENSP00000229332:G216S	G	+	1	0	CLEC4A	8182082	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	1.361000	0.34136	1.242000	0.43836	0.585000	0.79938	GGC		0.443	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450	
CLEC6A	93978	hgsc.bcm.edu	37	12	8608722	8608722	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:8608722G>A	ENST00000382073.3	+	1	201	c.15G>A	c.(13-15)caG>caA	p.Q5Q		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	5					defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.Q5Q(1)		breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TGCAAGAGCAGCAACCTCAAA	0.453																																					p.Q5Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G15A	12						.						134.0	124.0	128.0					12																	8608722		2203	4300	6503	8499989	SO:0001819	synonymous_variant	93978	exon1			AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.15G>A	12.37:g.8608722G>A		Somatic		Capture	SOLID	Phase_I	8499989	NM_001007033	A2RUK3	Silent	SNP	ENST00000382073.3	37	CCDS31739.1																																																																																				0.453	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033	
ATF7IP	55729	hgsc.bcm.edu	37	12	14577961	14577961	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:14577961T>C	ENST00000540793.1	+	1	1267	c.1112T>C	c.(1111-1113)gTa>gCa	p.V371A	ATF7IP_ENST00000543189.1_Missense_Mutation_p.V371A|ATF7IP_ENST00000536444.1_Missense_Mutation_p.V371A|ATF7IP_ENST00000544627.1_Missense_Mutation_p.V379A|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Missense_Mutation_p.V371A			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	371	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GAAAAGAAGGTAGAGGAAGAT	0.338																																					p.V371A												.	.	0			c.T1112C	12						.						80.0	88.0	85.0					12																	14577961		2202	4300	6502	14469228	SO:0001583	missense	55729	exon2			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1112T>C	12.37:g.14577961T>C	ENSP00000444589:p.Val371Ala	Somatic		Capture	SOLID	Phase_I	14469228	NM_018179	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	T	7.696	0.691978	0.15039	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.23754	2.23;2.23;2.23;2.23;1.89;2.23	5.23	1.2	0.21068	.	0.735850	0.11970	N	0.511828	T	0.15696	0.0378	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.13594	0.008;0.008;0.0;0.0;0.002	B;B;B;B;B	0.14578	0.011;0.011;0.002;0.002;0.003	T	0.28870	-1.0030	10	0.24483	T	0.36	-0.8075	2.4912	0.04610	0.3565:0.2767:0.0:0.3668	.	379;371;371;371;371	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	A	371;371;371;379;371;371	ENSP00000261168:V371A;ENSP00000443179:V371A;ENSP00000445955:V371A;ENSP00000440440:V379A;ENSP00000379575:V371A;ENSP00000444589:V371A	ENSP00000261168:V371A	V	+	2	0	ATF7IP	14469228	0.899000	0.30636	0.138000	0.22173	0.814000	0.46013	0.808000	0.27154	0.363000	0.24346	0.482000	0.46254	GTA		0.338	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	
GUCY2C	2984	hgsc.bcm.edu	37	12	14836117	14836117	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:14836117A>G	ENST00000261170.3	-	4	606	c.470T>C	c.(469-471)tTa>tCa	p.L157S	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	157					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.L157S(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CAGCCTGGTTAAGGTTTCTTT	0.418																																					p.L157S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T470C	12						.						91.0	85.0	87.0					12																	14836117		2203	4300	6503	14727384	SO:0001583	missense	2984	exon4				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.470T>C	12.37:g.14836117A>G	ENSP00000261170:p.Leu157Ser	Somatic		Capture	SOLID	Phase_I	14727384	NM_004963	B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.855447	0.71719	.	.	ENSG00000070019	ENST00000261170	T	0.76448	-1.02	5.46	5.46	0.80206	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.86744	0.6006	M	0.75777	2.31	0.50813	D	0.999893	D	0.89917	1.0	D	0.97110	1.0	D	0.88099	0.2818	10	0.87932	D	0	.	11.9384	0.52886	1.0:0.0:0.0:0.0	.	157	P25092	GUC2C_HUMAN	S	157	ENSP00000261170:L157S	ENSP00000261170:L157S	L	-	2	0	GUCY2C	14727384	1.000000	0.71417	0.997000	0.53966	0.820000	0.46376	6.997000	0.76270	2.077000	0.62373	0.533000	0.62120	TTA		0.418	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1		
WBP11	51729	hgsc.bcm.edu	37	12	14947559	14947559	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:14947559G>A	ENST00000261167.2	-	7	866	c.633C>T	c.(631-633)gtC>gtT	p.V211V		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	211					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.V211V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						ACATCTGCACGACTTGAGGAG	0.532																																					p.V211V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C633T	12						.						140.0	147.0	145.0					12																	14947559		2203	4300	6503	14838826	SO:0001819	synonymous_variant	51729	exon7			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.633C>T	12.37:g.14947559G>A		Somatic		Capture	SOLID	Phase_I	14838826	NM_016312	Q96AY8	Silent	SNP	ENST00000261167.2	37	CCDS8666.1																																																																																				0.532	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312	
SLCO1B3	28234	hgsc.bcm.edu	37	12	21054390	21054390	+	Silent	SNP	C	C	T	rs551215380		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:21054390C>T	ENST00000381545.3	+	15	2073	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	SLCO1B3_ENST00000553473.1_Silent_p.S618S|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.S618S|LST3_ENST00000540229.1_Silent_p.S618S|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	618					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.S618S(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TATATAATTCCGTATTTTTTG	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		17287	0.0		0.0	False		,,,				2504	0.001				p.S618S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C1854T	12						.						157.0	151.0	153.0					12																	21054390		2203	4300	6503	20945657	SO:0001819	synonymous_variant	28234	exon14				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1854C>T	12.37:g.21054390C>T		Somatic		Capture	SOLID	Phase_I	20945657	NM_019844	E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	CCDS8684.1																																																																																				0.338	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844	
KLHL42	57542	hgsc.bcm.edu	37	12	27950794	27950794	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:27950794C>T	ENST00000381271.2	+	3	1524	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	405					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P405S(1)									CGAGCTGGGGCCCAACCGCAG	0.582																																					p.P405S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1213T	12						.						100.0	90.0	93.0					12																	27950794		2203	4300	6503	27842061	SO:0001583	missense	57542	exon3			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1213C>T	12.37:g.27950794C>T	ENSP00000370671:p.Pro405Ser	Somatic		Capture	SOLID	Phase_I	27842061	NM_020782	Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664614	0.29604	.	.	ENSG00000087448	ENST00000381271	T	0.74106	-0.81	4.62	0.508	0.16972	Kelch-type beta propeller (1);	0.739372	0.12622	N	0.452887	T	0.51669	0.1688	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25363	-1.0134	10	0.15066	T	0.55	.	3.3144	0.07027	0.1374:0.5638:0.1346:0.1642	.	405	Q9P2K6	KLDC5_HUMAN	S	405	ENSP00000370671:P405S	ENSP00000370671:P405S	P	+	1	0	KLHDC5	27842061	0.014000	0.17966	0.976000	0.42696	0.992000	0.81027	-0.030000	0.12308	0.534000	0.28695	0.655000	0.94253	CCC		0.582	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782	
TMTC1	83857	hgsc.bcm.edu	37	12	29669313	29669313	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:29669313G>A	ENST00000539277.1	-	15	2334	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V	TMTC1_ENST00000552618.1_Missense_Mutation_p.A783V|TMTC1_ENST00000551659.1_Missense_Mutation_p.A821V|TMTC1_ENST00000256062.5_Missense_Mutation_p.A651V|TMTC1_ENST00000319685.8_5'UTR	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	759						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.A651V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GCTATAGATGGCTGACAAGAG	0.448																																					p.A759V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2276T	12						.						158.0	139.0	146.0					12																	29669313		2203	4300	6503	29560580	SO:0001583	missense	83857	exon15				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2276C>T	12.37:g.29669313G>A	ENSP00000442046:p.Ala759Val	Somatic		Capture	SOLID	Phase_I	29560580	NM_001193451	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558153	0.86231	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.51817	0.69;0.69;0.69;1.23	5.26	5.26	0.73747	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.104582	0.64402	D	0.000003	T	0.58722	0.2142	L	0.33137	0.985	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;P	0.77557	0.96;0.99;0.874	T	0.54990	-0.8210	10	0.38643	T	0.18	-15.2952	17.6163	0.88068	0.0:0.0:1.0:0.0	.	759;821;104	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	V	522;651;821;783;759	ENSP00000256062:A651V;ENSP00000448112:A821V;ENSP00000449043:A783V;ENSP00000442046:A759V	ENSP00000256062:A651V	A	-	2	0	TMTC1	29560580	1.000000	0.71417	0.538000	0.28064	0.777000	0.43975	8.742000	0.91588	2.733000	0.93635	0.655000	0.94253	GCC		0.448	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	
DNM1L	10059	hgsc.bcm.edu	37	12	32884039	32884039	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:32884039G>A	ENST00000549701.1	+	10	1245	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	DNM1L_ENST00000553257.1_Missense_Mutation_p.D404N|DNM1L_ENST00000547312.1_Missense_Mutation_p.D391N|DNM1L_ENST00000266481.6_Missense_Mutation_p.D391N|DNM1L_ENST00000358214.5_Missense_Mutation_p.D404N|DNM1L_ENST00000381000.4_Missense_Mutation_p.D404N|DNM1L_ENST00000452533.2_Missense_Mutation_p.D391N|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Missense_Mutation_p.D188N			O00429	DNM1L_HUMAN	dynamin 1-like	391	Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.D391N(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TAACACTATTGACATTTTGAC	0.368																																					p.D391N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1171A	12						.						174.0	163.0	167.0					12																	32884039		2203	4300	6503	32775306	SO:0001583	missense	10059	exon10			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1171G>A	12.37:g.32884039G>A	ENSP00000450399:p.Asp391Asn	Somatic		Capture	SOLID	Phase_I	32775306	NM_012062	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105088	0.94245	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	4.91	4.91	0.64330	Dynamin central domain (1);	0.158467	0.56097	N	0.000037	D	0.89945	0.6862	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.998;0.999;0.987;0.995;0.998	D	0.92812	0.6265	10	0.87932	D	0	.	18.1255	0.89584	0.0:0.0:1.0:0.0	.	188;444;444;457;444;391	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	N	391;457;391;404;391;404;391;391;188;404	ENSP00000415131:D391N;ENSP00000449089:D404N;ENSP00000450399:D391N;ENSP00000350948:D404N;ENSP00000266481:D391N;ENSP00000448610:D391N;ENSP00000404160:D188N;ENSP00000370388:D404N	ENSP00000266479:D391N	D	+	1	0	DNM1L	32775306	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.549000	0.98106	2.280000	0.76307	0.563000	0.77884	GAC		0.368	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062	
PKP2	5318	hgsc.bcm.edu	37	12	33031255	33031255	+	Missense_Mutation	SNP	C	C	T	rs200095747		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:33031255C>T	ENST00000070846.6	-	3	583	c.559G>A	c.(559-561)Gcc>Acc	p.A187T	PKP2_ENST00000340811.4_Missense_Mutation_p.A187T	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	187					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.A187T(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACTAGGAGGGCGGCCCGCCTG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18578	0.0		0.001	False		,,,				2504	0.0				p.A187T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G559A	12						.						97.0	87.0	91.0					12																	33031255		2203	4300	6503	32922522	SO:0001583	missense	5318	exon3			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.559G>A	12.37:g.33031255C>T	ENSP00000070846:p.Ala187Thr	Somatic		Capture	SOLID	Phase_I	32922522	NM_004572	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	CCDS8731.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.021	0.558720	0.13436	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.79653	-1.29;-1.19	4.95	-1.98	0.07480	.	2.255120	0.02956	U	0.142330	T	0.48059	0.1479	N	0.00538	-1.39	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.0	T	0.46652	-0.9176	10	0.17369	T	0.5	-10.1086	5.3226	0.15889	0.0:0.3396:0.1472:0.5133	.	187;187;187	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	T	187	ENSP00000342800:A187T;ENSP00000070846:A187T	ENSP00000070846:A187T	A	-	1	0	PKP2	32922522	0.006000	0.16342	0.000000	0.03702	0.539000	0.34962	0.248000	0.18198	-0.271000	0.09272	-0.312000	0.09012	GCC		0.622	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572	
LRRK2	120892	hgsc.bcm.edu	37	12	40668513	40668513	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:40668513G>A	ENST00000298910.7	+	15	1843	c.1785G>A	c.(1783-1785)atG>atA	p.M595I	LRRK2_ENST00000343742.2_Missense_Mutation_p.M595I	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	595					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.M595I(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CACTGCAGATGTATCCAGATG	0.363																																					p.M595I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1785A	12						.						130.0	128.0	128.0					12																	40668513		2203	4300	6503	38954780	SO:0001583	missense	120892	exon15			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1785G>A	12.37:g.40668513G>A	ENSP00000298910:p.Met595Ile	Somatic		Capture	SOLID	Phase_I	38954780	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795178	0.70452	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.59906	0.23;1.35;1.35	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.038396	0.85682	D	0.000000	T	0.67850	0.2937	M	0.61703	1.905	0.54753	D	0.99998	P;D	0.56521	0.813;0.976	B;P	0.51229	0.259;0.663	T	0.67496	-0.5656	10	0.51188	T	0.08	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	595;595	E9PC85;Q5S007	.;LRRK2_HUMAN	I	343;595;595	ENSP00000398726:M343I;ENSP00000341930:M595I;ENSP00000298910:M595I	ENSP00000298910:M595I	M	+	3	0	LRRK2	38954780	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.058000	0.89460	2.833000	0.97629	0.585000	0.79938	ATG		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
CNTN1	1272	hgsc.bcm.edu	37	12	41337959	41337959	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:41337959A>C	ENST00000551295.2	+	14	1787	c.1670A>C	c.(1669-1671)cAg>cCg	p.Q557P	CNTN1_ENST00000347616.1_Missense_Mutation_p.Q557P|CNTN1_ENST00000547849.1_Missense_Mutation_p.Q557P|CNTN1_ENST00000547702.1_Missense_Mutation_p.Q557P|CNTN1_ENST00000360099.3_Missense_Mutation_p.Q557P|CNTN1_ENST00000348761.2_Missense_Mutation_p.Q546P	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	557	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.Q557P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATTCACTACCAGAGGAATTTT	0.358																																					p.Q546P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1637C	12						.						85.0	76.0	79.0					12																	41337959		2203	4299	6502	39624226	SO:0001583	missense	1272	exon13			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1670A>C	12.37:g.41337959A>C	ENSP00000447006:p.Gln557Pro	Somatic		Capture	SOLID	Phase_I	39624226	NM_175038	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.515064	0.44763	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7	5.0	2.51	0.30379	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.228789	0.43260	D	0.000591	T	0.19644	0.0472	N	0.25144	0.715	0.34032	D	0.653979	B;P;P	0.38565	0.429;0.584;0.637	B;B;B	0.43838	0.351;0.306;0.433	T	0.27706	-1.0066	10	0.72032	D	0.01	.	7.5283	0.27668	0.8005:0.0:0.0725:0.127	.	557;546;557	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	P	557;557;557;557;557;546	ENSP00000448004:Q557P;ENSP00000447006:Q557P;ENSP00000448653:Q557P;ENSP00000325660:Q557P;ENSP00000353213:Q557P;ENSP00000261160:Q546P	ENSP00000325660:Q557P	Q	+	2	0	CNTN1	39624226	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.133000	0.57983	1.045000	0.40225	0.496000	0.49642	CAG		0.358	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
PCED1B	91523	hgsc.bcm.edu	37	12	47629737	47629738	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	CA	CA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:47629737_47629738delCA	ENST00000546455.1	+	4	1622_1623	c.891_892delCA	c.(889-894)cccacafs	p.T298fs	PCED1B_ENST00000432328.1_Frame_Shift_Del_p.T298fs|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	298	Pro-rich.						hydrolase activity (GO:0016787)	p.T298fs*100(1)									taccttcccccacataccgccc	0.629																																					p.297_298del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.891_892del	12						.																																			45916005	SO:0001589	frameshift_variant	91523	exon2			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.891_892delCA	12.37:g.47629739_47629740delCA	ENSP00000446688:p.Thr298fs	Somatic		Capture	SOLID	Phase_I	45916004	NM_138371	Q96B20	Frame_Shift_Del	DEL	ENST00000546455.1	37	CCDS8752.1																																																																																				0.629	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
CERS5	91012	hgsc.bcm.edu	37	12	50529618	50529618	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:50529618C>T	ENST00000317551.6	-	8	893	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	CERS5_ENST00000422340.2_Missense_Mutation_p.A199T	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	257	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.A257T(1)									GCCAGTTTGGCTGCCTGGAGA	0.428																																					p.A257T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G769A	12						.						82.0	79.0	80.0					12																	50529618		2203	4300	6503	48815885	SO:0001583	missense	91012	exon8				CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.769G>A	12.37:g.50529618C>T	ENSP00000325485:p.Ala257Thr	Somatic		Capture	SOLID	Phase_I	48815885	NM_147190	B4DV54	Missense_Mutation	SNP	ENST00000317551.6	37	CCDS8801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.346599|5.346599	0.95807|0.95807	.|.	.|.	ENSG00000139624|ENSG00000139624	ENST00000551005;ENST00000317551;ENST00000422340|ENST00000550919	D;D;D|.	0.85773|.	-2.03;-2.03;-2.03|.	4.57|4.57	4.57|4.57	0.56435|0.56435	TRAM/LAG1/CLN8 homology domain (3);|.	0.165132|.	0.53938|.	D|.	0.000058|.	T|T	0.78811|0.78811	0.4342|0.4342	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	P;P;D|.	0.76494|.	0.91;0.923;0.999|.	P;P;D|.	0.79784|.	0.838;0.706;0.993|.	T|T	0.80888|0.80888	-0.1181|-0.1181	10|5	0.59425|.	D|.	0.04|.	-6.299|-6.299	17.943|17.943	0.89031|0.89031	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	199;257;176|.	B4DV54;Q8N5B7;F8W0U5|.	.;CERS5_HUMAN;.|.	T|N	176;257;199|26	ENSP00000447556:A176T;ENSP00000325485:A257T;ENSP00000389050:A199T|.	ENSP00000325485:A257T|.	A|S	-|-	1|2	0|0	CERS5|CERS5	48815885|48815885	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.651000|7.651000	0.83577|0.83577	2.527000|2.527000	0.85204|0.85204	0.563000|0.563000	0.77884|0.77884	GCC|AGC		0.428	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190	
DIP2B	57609	hgsc.bcm.edu	37	12	51090954	51090954	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:51090954C>T	ENST00000301180.5	+	17	2078	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	682						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R682C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGTAGCAATCCGCAGGTACTG	0.473																																					p.R682C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2044T	12						.						100.0	71.0	81.0					12																	51090954		2203	4300	6503	49377221	SO:0001583	missense	57609	exon17			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2044C>T	12.37:g.51090954C>T	ENSP00000301180:p.Arg682Cys	Somatic		Capture	SOLID	Phase_I	49377221	NM_173602	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031459	0.93575	.	.	ENSG00000066084	ENST00000301180	T	0.10668	2.85	5.44	5.44	0.79542	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.13899	-1.0492	10	0.56958	D	0.05	-12.5396	19.4483	0.94857	0.0:1.0:0.0:0.0	.	682	Q9P265	DIP2B_HUMAN	C	682	ENSP00000301180:R682C	ENSP00000301180:R682C	R	+	1	0	DIP2B	49377221	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.889000	0.69766	2.835000	0.97688	0.591000	0.81541	CGC		0.473	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
ANKRD33	341405	hgsc.bcm.edu	37	12	52283257	52283257	+	Missense_Mutation	SNP	C	C	T	rs144402270		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:52283257C>T	ENST00000340970.4	+	4	594	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	ANKRD33_ENST00000538991.1_Missense_Mutation_p.R6W|ANKRD33_ENST00000301190.6_Missense_Mutation_p.R210W|ANKRD33_ENST00000547119.1_3'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	75					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.R210W(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGCTGCCATGCGGAACCGCTG	0.657																																					p.R75W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C223T	12						.	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	39.0	37.0	38.0		223,628	3.8	0.1	12	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANKRD33	NM_001130015.1,NM_182608.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	75/273,210/453	52283257	1,13005	2203	4300	6503	50569524	SO:0001583	missense	341405	exon4				CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.223C>T	12.37:g.52283257C>T	ENSP00000344690:p.Arg75Trp	Somatic		Capture	SOLID	Phase_I	50569524	NM_001130015	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411835	0.62511	0.0	1.16E-4	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.71461	-0.57;1.27;-0.57	4.68	3.77	0.43336	Ankyrin repeat-containing domain (4);	0.308662	0.31809	N	0.007038	T	0.77922	0.4203	L	0.49571	1.57	0.20638	N	0.999873	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.70935	0.938;0.971;0.859	T	0.68857	-0.5298	10	0.62326	D	0.03	-0.1341	11.6306	0.51173	0.1787:0.8213:0.0:0.0	.	75;6;210	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	W	210;6;75	ENSP00000301190:R210W;ENSP00000443722:R6W;ENSP00000344690:R75W	ENSP00000301190:R210W	R	+	1	2	ANKRD33	50569524	0.996000	0.38824	0.079000	0.20413	0.711000	0.40976	3.105000	0.50314	1.293000	0.44690	0.655000	0.94253	CGG		0.657	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608	
ACVR1B	91	hgsc.bcm.edu	37	12	52380684	52380684	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:52380684G>A	ENST00000257963.4	+	7	1296	c.1219G>A	c.(1219-1221)Ggg>Agg	p.G407R	ACVR1B_ENST00000542485.1_Missense_Mutation_p.G355R|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000415850.2_Missense_Mutation_p.G407R|ACVR1B_ENST00000426655.2_Missense_Mutation_p.G407R|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000541224.1_Missense_Mutation_p.G448R	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.G407S(2)|p.G448R(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TTATGCCCTCGGGCTTGTATA	0.418																																					p.G355R												.	.	3	Substitution - Missense(3)	large_intestine(2)|breast(1)	c.G1063A	12						.						140.0	136.0	137.0					12																	52380684		2203	4300	6503	50666951	SO:0001583	missense	91	exon7				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1219G>A	12.37:g.52380684G>A	ENSP00000257963:p.Gly407Arg	Somatic		Capture	SOLID	Phase_I	50666951	NM_020327	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912560	0.92178	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.99462	-5.94;-5.94;-5.94;-5.94;-5.94	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.99758	4.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.997;0.998	D	0.96447	0.9331	10	0.87932	D	0	.	18.3723	0.90411	0.0:0.0:1.0:0.0	.	448;407;407;407	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	R	407;448;407;407;355	ENSP00000257963:G407R;ENSP00000442656:G448R;ENSP00000390477:G407R;ENSP00000397550:G407R;ENSP00000442885:G355R	ENSP00000257963:G407R	G	+	1	0	ACVR1B	50666951	1.000000	0.71417	0.931000	0.37212	0.956000	0.61745	9.657000	0.98554	2.668000	0.90789	0.563000	0.77884	GGG		0.418	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328	
NR4A1	3164	hgsc.bcm.edu	37	12	52449923	52449923	+	Missense_Mutation	SNP	C	C	T	rs140430231	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:52449923C>T	ENST00000243050.1	+	4	1300	c.986C>T	c.(985-987)gCg>gTg	p.A329V	NR4A1_ENST00000550082.1_Missense_Mutation_p.A342V|NR4A1_ENST00000545748.1_Missense_Mutation_p.A383V|NR4A1_ENST00000394825.1_Missense_Mutation_p.A329V|NR4A1_ENST00000394824.2_Missense_Mutation_p.A329V|NR4A1_ENST00000360284.3_Missense_Mutation_p.A342V|RP11-1100L3.8_ENST00000564363.1_lincRNA	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	329					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A329V(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		AAGTGCCTGGCGGTGGGCATG	0.637																																					p.A329V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C986T	12						.	C	VAL/ALA,VAL/ALA,VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	73.0	72.0	72.0		1025,986,986	4.3	1.0	12	dbSNP_134	72	0,8600		0,0,4300	yes	missense,missense,missense	NR4A1	NM_001202233.1,NM_002135.4,NM_173157.2	64,64,64	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign	342/612,329/599,329/599	52449923	4,13002	2203	4300	6503	50736190	SO:0001583	missense	3164	exon4			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.986C>T	12.37:g.52449923C>T	ENSP00000243050:p.Ala329Val	Somatic		Capture	SOLID	Phase_I	50736190	NM_002135	B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	CCDS8818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.27|15.27	2.783517|2.783517	0.49891|0.49891	9.08E-4|9.08E-4	0.0|0.0	ENSG00000123358|ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824|ENST00000550763	D;D;D;D;D;D|T	0.97378|0.51325	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36|0.71	4.27|4.27	4.27|4.27	0.50696|0.50696	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);|.	0.110120|.	0.64402|.	D|.	0.000012|.	T|T	0.59622|0.59622	0.2207|0.2207	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	B;B|.	0.26935|.	0.164;0.066|.	B;B|.	0.21917|.	0.027;0.037|.	T|T	0.63594|0.63594	-0.6602|-0.6602	10|7	0.25106|0.87932	T|D	0.35|0	.|.	16.6594|16.6594	0.85237|0.85237	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	342;329|.	B4DML7;P22736|.	.;NR4A1_HUMAN|.	V|W	342;383;342;329;329;329|145	ENSP00000353427:A342V;ENSP00000440864:A383V;ENSP00000449539:A342V;ENSP00000243050:A329V;ENSP00000378302:A329V;ENSP00000378301:A329V|ENSP00000449858:R145W	ENSP00000243050:A329V|ENSP00000449858:R145W	A|R	+|+	2|1	0|2	NR4A1|NR4A1	50736190|50736190	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.980000|0.980000	0.70556|0.70556	3.797000|3.797000	0.55514|0.55514	2.667000|2.667000	0.90743|0.90743	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.637	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2		
KRT75	9119	hgsc.bcm.edu	37	12	52827788	52827788	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:52827788C>A	ENST00000252245.5	-	1	521	c.301G>T	c.(301-303)Ggg>Tgg	p.G101W		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	101	Gly-rich.|Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G101W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ACTCCACCCCCATAGCCAAAT	0.597																																					p.G101W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G301T	12						.						114.0	120.0	118.0					12																	52827788		2203	4300	6503	51114055	SO:0001583	missense	9119	exon1			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.301G>T	12.37:g.52827788C>A	ENSP00000252245:p.Gly101Trp	Somatic		Capture	SOLID	Phase_I	51114055	NM_004693	B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809212	0.70797	.	.	ENSG00000170454	ENST00000252245	D	0.98889	-5.21	5.52	5.52	0.82312	.	0.326268	0.22301	N	0.061863	D	0.98988	0.9655	M	0.81614	2.55	0.45883	D	0.998739	D	0.76494	0.999	D	0.71656	0.974	D	0.99364	1.0918	10	0.37606	T	0.19	.	15.6777	0.77341	0.0:0.8627:0.1373:0.0	.	101	O95678	K2C75_HUMAN	W	101	ENSP00000252245:G101W	ENSP00000252245:G101W	G	-	1	0	KRT75	51114055	0.016000	0.18221	0.995000	0.50966	0.840000	0.47671	1.172000	0.31908	2.585000	0.87301	0.655000	0.94253	GGG		0.597	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693	
KRT76	51350	hgsc.bcm.edu	37	12	53164857	53164857	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:53164857C>T	ENST00000332411.2	-	7	1463	c.1410G>A	c.(1408-1410)gaG>gaA	p.E470E		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	470	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.E470E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGTTCATCAGCTCCTGGTAGT	0.587																																					p.E470E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1410A	12						.						126.0	114.0	118.0					12																	53164857		2203	4300	6503	51451124	SO:0001819	synonymous_variant	51350	exon7			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1410G>A	12.37:g.53164857C>T		Somatic		Capture	SOLID	Phase_I	51451124	NM_015848	B4DRR3|Q7Z795	Silent	SNP	ENST00000332411.2	37	CCDS8838.1																																																																																				0.587	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848	
RARG	5916	hgsc.bcm.edu	37	12	53608001	53608001	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:53608001G>A	ENST00000425354.2	-	7	1142	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	RARG_ENST00000338561.5_Missense_Mutation_p.R208C|RARG_ENST00000327550.3_Missense_Mutation_p.R147C|RARG_ENST00000543726.1_Missense_Mutation_p.R197C|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.R219C	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	219	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R219C(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGCTGCACGCGGTGGTCTGCA	0.567																																					p.R219C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C655T	12						.						77.0	67.0	70.0					12																	53608001		2203	4300	6503	51894268	SO:0001583	missense	5916	exon7			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.655C>T	12.37:g.53608001G>A	ENSP00000388510:p.Arg219Cys	Somatic		Capture	SOLID	Phase_I	51894268	NM_000966	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464891	0.63513	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.37	5.37	0.77165	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.61110	0.2321	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;P	0.81914	0.986;0.985;0.995;0.817	T	0.64398	-0.6417	10	0.59425	D	0.04	.	11.8888	0.52618	0.0:0.0:0.7219:0.2781	.	256;197;219;208	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	C	219;219;147;208;197;256	ENSP00000388510:R219C;ENSP00000377947:R219C;ENSP00000332695:R147C;ENSP00000343698:R208C;ENSP00000444335:R197C	ENSP00000332695:R147C	R	-	1	0	RARG	51894268	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.445000	0.44899	2.688000	0.91661	0.563000	0.77884	CGC		0.567	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966	
GPR84	53831	hgsc.bcm.edu	37	12	54757553	54757553	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:54757553A>C	ENST00000551809.1	-	1	718	c.83T>G	c.(82-84)gTg>gGg	p.V28G	RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.V28G|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.V28G(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AGCCACCACCACCCCCCAGCT	0.567																																					p.V28G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T83G	12						.						124.0	98.0	107.0					12																	54757553		2203	4300	6503	53043820	SO:0001583	missense	53831	exon2			AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.83T>G	12.37:g.54757553A>C	ENSP00000450310:p.Val28Gly	Somatic		Capture	SOLID	Phase_I	53043820	NM_020370	B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.550790	0.27739	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.37235	1.21;1.21	4.81	3.65	0.41850	.	0.771724	0.11153	N	0.593925	T	0.25531	0.0621	N	0.24115	0.695	0.22500	N	0.999047	B	0.02656	0.0	B	0.01281	0.0	T	0.18241	-1.0343	10	0.33141	T	0.24	-1.0996	10.4225	0.44359	0.8356:0.1644:0.0:0.0	.	28	Q9NQS5	GPR84_HUMAN	G	28	ENSP00000267015:V28G;ENSP00000450310:V28G	ENSP00000267015:V28G	V	-	2	0	GPR84	53043820	0.002000	0.14202	0.064000	0.19789	0.977000	0.68977	1.744000	0.38268	0.908000	0.36671	0.454000	0.30748	GTG		0.567	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1		
DNAJC14	85406	hgsc.bcm.edu	37	12	56221060	56221062	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	CTT	CTT	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:56221060_56221062delCTT	ENST00000357606.3	-	3	1670_1672	c.1381_1383delAAG	c.(1381-1383)aagdel	p.K461del	DNAJC14_ENST00000317269.3_In_Frame_Del_p.K461del|TMEM198B_ENST00000478241.1_RNA|RP11-762I7.5_ENST00000546837.1_In_Frame_Del_p.E90del|DNAJC14_ENST00000317287.5_In_Frame_Del_p.K461del			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	461	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.K461delK(1)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GTCTATAGGCCTTCTTCAGTTCA	0.458																																					p.461_461del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1381_1383del	12						.																																			54507329	SO:0001651	inframe_deletion	85406	exon2			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1381_1383delAAG	12.37:g.56221063_56221065delCTT	ENSP00000350223:p.Lys461del	Somatic		Capture	SOLID	Phase_I	54507327	NM_032364	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	In_Frame_Del	DEL	ENST00000357606.3	37	CCDS8894.1																																																																																				0.458	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364	
ATP5B	506	hgsc.bcm.edu	37	12	57037309	57037309	+	Missense_Mutation	SNP	C	C	T	rs200966693		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:57037309C>T	ENST00000262030.3	-	5	720	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	SNORD59A_ENST00000384304.1_RNA|ATP5B_ENST00000552919.1_Missense_Mutation_p.A224T|ATP5B_ENST00000550162.1_5'Flank	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	224					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.A224T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGCTTTGGCGACATTGTTG	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		17384	0.0		0.001	False		,,,				2504	0.0				p.A224T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G670A	12						.						105.0	97.0	100.0					12																	57037309		2203	4300	6503	55323576	SO:0001583	missense	506	exon5			M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.670G>A	12.37:g.57037309C>T	ENSP00000262030:p.Ala224Thr	Somatic		Capture	SOLID	Phase_I	55323576	NM_001686	A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	CCDS8924.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	27.9|27.9	4.873953|4.873953	0.91664|0.91664	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000551020;ENST00000551570;ENST00000553007|ENST00000552959	T;T;T;T;T|.	0.79352|.	-1.26;-1.26;-1.26;-1.26;-1.26|.	5.9|5.9	5.9|5.9	0.94986|0.94986	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|.	0.099413|.	0.64402|.	D|.	0.000002|.	D|D	0.84009|0.84009	0.5378|0.5378	M|M	0.87381|0.87381	2.88|2.88	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.66084|.	0.941|.	D|D	0.85062|0.85062	0.0935|0.0935	10|5	0.87932|.	D|.	0|.	-3.7647|-3.7647	19.0535|19.0535	0.93054|0.93054	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	224|.	P06576|.	ATPB_HUMAN|.	T|H	224;224;163;17;125|160	ENSP00000262030:A224T;ENSP00000450297:A224T;ENSP00000446677:A163T;ENSP00000448428:A17T;ENSP00000447571:A125T|.	ENSP00000262030:A224T|.	A|R	-|-	1|2	0|0	ATP5B|ATP5B	55323576|55323576	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.993000|0.993000	0.82548|0.82548	7.688000|7.688000	0.84153|0.84153	2.786000|2.786000	0.95864|0.95864	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.413	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686	
MARS	4141	hgsc.bcm.edu	37	12	57906657	57906657	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:57906657C>A	ENST00000262027.5	+	15	2011	c.1877C>A	c.(1876-1878)cCt>cAt	p.P626H	RNU6-594P_ENST00000517056.1_RNA|MARS_ENST00000315473.5_Missense_Mutation_p.P392H|RN7SL312P_ENST00000582079.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	626					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.P626H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TACATTCGGCCTGAGGGCCAG	0.542																																					p.P626H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1877A	12						.						161.0	163.0	162.0					12																	57906657		2203	4300	6503	56192924	SO:0001583	missense	4141	exon15			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1877C>A	12.37:g.57906657C>A	ENSP00000262027:p.Pro626His	Somatic		Capture	SOLID	Phase_I	56192924	NM_004990	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887508	0.91814	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.53423	1.13;0.62	5.39	5.39	0.77823	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.80803	0.4693	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87440	0.2394	10	0.87932	D	0	-11.0894	18.3019	0.90167	0.0:1.0:0.0:0.0	.	392;626	A6NC17;P56192	.;SYMC_HUMAN	H	626;392	ENSP00000262027:P626H;ENSP00000314653:P392H	ENSP00000262027:P626H	P	+	2	0	MARS	56192924	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.354000	0.79424	2.705000	0.92388	0.467000	0.42956	CCT		0.542	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990	
B4GALNT1	2583	hgsc.bcm.edu	37	12	58021960	58021960	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:58021960G>A	ENST00000341156.4	-	9	1672	c.1088C>T	c.(1087-1089)gCg>gTg	p.A363V	B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.A308V	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	363					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.A363V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCGCGTCCGCGCCGTGAAGAC	0.647																																					p.A363V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1088T	12						.						77.0	74.0	75.0					12																	58021960		2203	4300	6503	56308227	SO:0001583	missense	2583	exon9			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1088C>T	12.37:g.58021960G>A	ENSP00000341562:p.Ala363Val	Somatic		Capture	SOLID	Phase_I	56308227	NM_001478	B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	CCDS8950.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.60|15.60	2.881637|2.881637	0.51908|0.51908	.|.	.|.	ENSG00000135454|ENSG00000135454	ENST00000341156;ENST00000418555|ENST00000547741	T;T|.	0.61510|.	0.1;0.1|.	4.79|4.79	3.86|3.86	0.44501|0.44501	Glycosyl transferase, family 2 (1);|.	0.346376|.	0.31177|.	N|.	0.008105|.	T|T	0.53883|0.53883	0.1824|0.1824	L|L	0.53249|0.53249	1.67|1.67	0.20074|0.20074	N|N	0.999937|0.999937	D;D|.	0.63046|.	0.992;0.983|.	P;P|.	0.54460|.	0.644;0.753|.	T|T	0.46541|0.46541	-0.9184|-0.9184	10|5	0.30078|.	T|.	0.28|.	-8.5071|-8.5071	15.15|15.15	0.72689|0.72689	0.0:0.1545:0.8455:0.0|0.0:0.1545:0.8455:0.0	.|.	308;363|.	B4DE26;Q00973|.	.;B4GN1_HUMAN|.	V|C	363;308|35	ENSP00000341562:A363V;ENSP00000401601:A308V|.	ENSP00000341562:A363V|.	A|R	-|-	2|1	0|0	B4GALNT1|B4GALNT1	56308227|56308227	0.258000|0.258000	0.24033|0.24033	0.982000|0.982000	0.44146|0.44146	0.781000|0.781000	0.44180|0.44180	2.646000|2.646000	0.46630|0.46630	2.514000|2.514000	0.84764|0.84764	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.647	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478	
AGAP2	116986	hgsc.bcm.edu	37	12	58125397	58125397	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:58125397C>T	ENST00000547588.1	-	9	1981	c.1982G>A	c.(1981-1983)cGa>cAa	p.R661Q	AGAP2_ENST00000257897.3_Missense_Mutation_p.R325Q	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	661					axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.R325Q(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATCCAAGCTTCGTTTCTCGGA	0.532																																					p.R325Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G974A	12						.						85.0	71.0	76.0					12																	58125397		2203	4300	6503	56411664	SO:0001583	missense	116986	exon9			AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1982G>A	12.37:g.58125397C>T	ENSP00000449241:p.Arg661Gln	Somatic		Capture	SOLID	Phase_I	56411664	NM_014770	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756102	0.49362	.	.	ENSG00000135439	ENST00000257897;ENST00000547588;ENST00000549129	T;T	0.35789	1.48;1.29	4.9	4.9	0.64082	.	0.357732	0.23964	N	0.042822	T	0.40862	0.1134	L	0.39898	1.24	0.48087	D	0.99958	P;D;P	0.55800	0.853;0.973;0.955	B;P;B	0.49012	0.269;0.598;0.394	T	0.26087	-1.0113	10	0.54805	T	0.06	.	17.3923	0.87435	0.0:1.0:0.0:0.0	.	325;661;661	Q99490-2;F8VVT9;Q99490	.;.;AGAP2_HUMAN	Q	325;661;17	ENSP00000257897:R325Q;ENSP00000449241:R661Q	ENSP00000257897:R325Q	R	-	2	0	AGAP2	56411664	0.996000	0.38824	1.000000	0.80357	0.220000	0.24768	3.110000	0.50352	2.736000	0.93811	0.655000	0.94253	CGA		0.532	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770	
AVIL	10677	hgsc.bcm.edu	37	12	58197430	58197430	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:58197430G>A	ENST00000257861.3	-	14	2124	c.1694C>T	c.(1693-1695)gCa>gTa	p.A565V	AVIL_ENST00000550083.1_Intron|AVIL_ENST00000537081.1_Missense_Mutation_p.A558V|RP11-571M6.17_ENST00000602802.1_lincRNA|RNU6-1083P_ENST00000384022.1_RNA|TSFM_ENST00000548851.1_Intron	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	565	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.A565V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CTTAGCCATTGCCCGCTCATC	0.582											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A565V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1694T	12						.						49.0	43.0	45.0					12																	58197430		2203	4300	6503	56483697	SO:0001583	missense	10677	exon14			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1694C>T	12.37:g.58197430G>A	ENSP00000257861:p.Ala565Val	Somatic	1029	Capture	SOLID	Phase_I	56483697	NM_006576	B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485816	0.44147	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.53857	0.6;0.6	4.83	4.83	0.62350	Gelsolin domain (1);	0.221552	0.45867	D	0.000334	T	0.47488	0.1448	L	0.35414	1.06	0.36790	D	0.884797	B;P	0.35307	0.009;0.494	B;B	0.43155	0.013;0.41	T	0.57400	-0.7818	10	0.52906	T	0.07	-4.9398	10.4796	0.44684	0.0:0.0:0.6959:0.3041	.	558;565	O75366-2;O75366	.;AVIL_HUMAN	V	558;565	ENSP00000443207:A558V;ENSP00000257861:A565V	ENSP00000257861:A565V	A	-	2	0	AVIL	56483697	0.646000	0.27295	0.970000	0.41538	0.992000	0.81027	1.510000	0.35790	2.504000	0.84457	0.462000	0.41574	GCA		0.582	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576	
DPY19L2	283417	hgsc.bcm.edu	37	12	63974565	63974565	+	Missense_Mutation	SNP	T	T	C	rs148329771		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:63974565T>C	ENST00000324472.4	-	19	1960	c.1777A>G	c.(1777-1779)Att>Gtt	p.I593V	DPY19L2_ENST00000413230.2_Missense_Mutation_p.I40V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	593					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.I593V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ACTGTTAAAATGCCAAAGATA	0.368																																					p.I593V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1777G	12						.	T	VAL/ILE	0,4406		0,0,2203	89.0	83.0	85.0		1777	-0.9	0.9	12	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	DPY19L2	NM_173812.4	29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	593/759	63974565	1,13005	2203	4300	6503	62260832	SO:0001583	missense	283417	exon19				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1777A>G	12.37:g.63974565T>C	ENSP00000315988:p.Ile593Val	Somatic		Capture	SOLID	Phase_I	62260832	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	T	0.184	-1.059202	0.01950	0.0	1.16E-4	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.56275	0.47;0.47	3.49	-0.937	0.10415	.	0.306934	0.34314	N	0.004063	T	0.29588	0.0738	N	0.13327	0.33	0.26904	N	0.967058	B	0.19331	0.035	B	0.24006	0.05	T	0.20405	-1.0276	9	.	.	.	.	9.8533	0.41070	0.0:0.0:0.5231:0.4769	.	593	Q6NUT2	D19L2_HUMAN	V	593;40	ENSP00000315988:I593V;ENSP00000439794:I40V	.	I	-	1	0	DPY19L2	62260832	0.997000	0.39634	0.871000	0.34182	0.191000	0.23601	0.995000	0.29706	-0.273000	0.09246	0.254000	0.18369	ATT		0.368	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812	
WIF1	11197	hgsc.bcm.edu	37	12	65448987	65448987	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:65448987C>T	ENST00000286574.4	-	9	1303	c.929G>A	c.(928-930)tGc>tAc	p.C310Y		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	310	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.C310Y(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GCCAGGCTCGCAGACAGCTAG	0.413			T	HMGA2	pleomorphic salivary gland adenoma																																p.C310Y	Esophageal Squamous(148;1595 1816 48559 49439 49664)		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G929A	12						.						78.0	73.0	75.0					12																	65448987		2203	4300	6503	63735254	SO:0001583	missense	11197	exon9			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.929G>A	12.37:g.65448987C>T	ENSP00000286574:p.Cys310Tyr	Somatic		Capture	SOLID	Phase_I	63735254	NM_007191	Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197550	0.79015	.	.	ENSG00000156076	ENST00000286574;ENST00000543094	D;D	0.99758	-6.65;-6.54	5.71	5.71	0.89125	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	H	0.95712	3.71	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.96897	0.9657	9	.	.	.	.	20.2344	0.98354	0.0:1.0:0.0:0.0	.	310	Q9Y5W5	WIF1_HUMAN	Y	310;59	ENSP00000286574:C310Y;ENSP00000439024:C59Y	.	C	-	2	0	WIF1	63735254	1.000000	0.71417	0.984000	0.44739	0.894000	0.52154	6.420000	0.73349	2.854000	0.98071	0.655000	0.94253	TGC		0.413	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2		
HELB	92797	hgsc.bcm.edu	37	12	66696455	66696455	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:66696455G>C	ENST00000247815.4	+	1	131	c.72G>C	c.(70-72)gaG>gaC	p.E24D		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	24					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.E24D(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TGGTGGAGGAGGACGACGACT	0.602																																					p.E24D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G72C	12						.						72.0	66.0	68.0					12																	66696455		2203	4300	6503	64982722	SO:0001583	missense	92797	exon1			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.72G>C	12.37:g.66696455G>C	ENSP00000247815:p.Glu24Asp	Somatic		Capture	SOLID	Phase_I	64982722	NM_033647	A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132580	0.37630	.	.	ENSG00000127311	ENST00000247815	T	0.12039	2.72	5.45	0.0564	0.14319	.	0.931349	0.09151	N	0.841550	T	0.09024	0.0223	L	0.34521	1.04	0.09310	N	1	B	0.15930	0.015	B	0.08055	0.003	T	0.41305	-0.9516	9	.	.	.	-1.8087	4.5578	0.12145	0.2764:0.3028:0.4208:0.0	.	24	Q8NG08	HELB_HUMAN	D	24	ENSP00000247815:E24D	.	E	+	3	2	HELB	64982722	0.009000	0.17119	0.003000	0.11579	0.089000	0.18198	0.265000	0.18515	-0.173000	0.10761	0.561000	0.74099	GAG		0.602	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1		
TRHDE	29953	hgsc.bcm.edu	37	12	73014954	73014954	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:73014954G>T	ENST00000261180.4	+	14	2497	c.2401G>T	c.(2401-2403)Gga>Tga	p.G801*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	801					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G801*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TAATTTTAATGGATCTCTTGT	0.328																																					p.G801X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2401T	12						.						111.0	103.0	106.0					12																	73014954		2203	4300	6503	71301221	SO:0001587	stop_gained	29953	exon14			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2401G>T	12.37:g.73014954G>T	ENSP00000261180:p.Gly801*	Somatic		Capture	SOLID	Phase_I	71301221	NM_013381	A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	37	6.565862	0.97667	.	.	ENSG00000072657	ENST00000261180	.	.	.	5.64	5.64	0.86602	.	0.552038	0.19869	N	0.104258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	11.1381	0.48386	0.1116:0.0:0.8884:0.0	.	.	.	.	X	801	.	ENSP00000261180:G801X	G	+	1	0	TRHDE	71301221	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	5.736000	0.68597	2.820000	0.97059	0.650000	0.86243	GGA		0.328	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
LRRIQ1	84125	hgsc.bcm.edu	37	12	85441148	85441148	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:85441148G>T	ENST00000393217.2	+	6	639	c.578G>T	c.(577-579)aGg>aTg	p.R193M		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	193	Glu-rich.							p.R193M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAAGCTCAGAGGGATAGAGAA	0.343																																					p.R193M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G578T	12						.						78.0	87.0	84.0					12																	85441148		2202	4298	6500	83965279	SO:0001583	missense	84125	exon6			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.578G>T	12.37:g.85441148G>T	ENSP00000376910:p.Arg193Met	Somatic		Capture	SOLID	Phase_I	83965279	NM_032165	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.05|16.05	3.013180|3.013180	0.54468|0.54468	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000533414|ENST00000256007;ENST00000378580;ENST00000393217	.|T	.|0.59083	.|0.29	5.08|5.08	2.12|2.12	0.27331|0.27331	.|.	.|0.435766	.|0.24930	.|N	.|0.034468	T|T	0.57636|0.57636	0.2067|0.2067	L|L	0.34521|0.34521	1.04|1.04	0.23411|0.23411	N|N	0.997732|0.997732	.|D;P;D	.|0.55605	.|0.971;0.926;0.972	.|P;P;P	.|0.58454	.|0.839;0.58;0.694	T|T	0.50816|0.50816	-0.8783|-0.8783	5|10	.|0.72032	.|D	.|0.01	.|.	8.8605|8.8605	0.35253|0.35253	0.2498:0.0:0.7502:0.0|0.2498:0.0:0.7502:0.0	.|.	.|193;193;193	.|Q96JM4-2;Q96JM4;C9JI57	.|.;LRIQ1_HUMAN;.	W|M	91|193	.|ENSP00000376910:R193M	.|ENSP00000256007:R193M	G|R	+|+	1|2	0|0	LRRIQ1|LRRIQ1	83965279|83965279	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.963000|0.963000	0.63663|0.63663	1.230000|1.230000	0.32612|0.32612	0.139000|0.139000	0.18822|0.18822	-0.224000|-0.224000	0.12420|0.12420	GGG|AGG		0.343	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
POLE	5426	hgsc.bcm.edu	37	12	133209065	133209065	+	Missense_Mutation	SNP	C	C	T	rs58916399		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr12:133209065C>T	ENST00000320574.5	-	45	6209	c.6166G>A	c.(6166-6168)Gca>Aca	p.A2056T	POLE_ENST00000535270.1_Missense_Mutation_p.A2029T|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2056			A -> T (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.A2056T(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	AGCTCATTTGCGACATAATCC	0.522								DNA polymerases (catalytic subunits)					C|||	1	0.000199681	0.0008	0.0	5008	,	,		22113	0.0		0.0	False		,,,				2504	0.0				p.A2056T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6166A	12						.						146.0	149.0	148.0					12																	133209065		2203	4300	6503	131719138	SO:0001583	missense	5426	exon45				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6166G>A	12.37:g.133209065C>T	ENSP00000322570:p.Ala2056Thr	Somatic		Capture	SOLID	Phase_I	131719138	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.30	2.195663	0.38806	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.02763	4.17;4.17;4.17	5.24	4.31	0.51392	.	0.232496	0.44483	D	0.000449	T	0.03136	0.0092	L	0.38838	1.175	0.45762	D	0.998657	B;B	0.27140	0.084;0.169	B;B	0.23574	0.012;0.047	T	0.54344	-0.8308	10	0.15499	T	0.54	.	15.2563	0.73588	0.1408:0.8592:0.0:0.0	rs58916399	2056;266	Q07864;B3KS74	DPOE1_HUMAN;.	T	266;2056;2067;2029	ENSP00000322570:A2056T;ENSP00000406383:A2067T;ENSP00000445753:A2029T	ENSP00000322570:A2056T	A	-	1	0	POLE	131719138	0.963000	0.33076	1.000000	0.80357	0.964000	0.63967	1.231000	0.32624	2.449000	0.82847	0.478000	0.44815	GCA		0.522	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
TUBGCP5	114791	hgsc.bcm.edu	37	15	22862952	22862952	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:22862952G>C	ENST00000283645.4	+	15	2103	c.1973G>C	c.(1972-1974)aGt>aCt	p.S658T	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.S658T|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	658					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TTGGAGCAGAGTGACTTTCAC	0.403																																					p.S658T												.	.	0			c.G1973C	15						.						350.0	350.0	350.0					15																	22862952		2203	4300	6503	20414393	SO:0001583	missense	114791	exon15			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1973G>C	15.37:g.22862952G>C	ENSP00000283645:p.Ser658Thr	Somatic		Capture	SOLID	Phase_I	20414393	NM_052903	E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386225	0.42308	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.24538	1.85;1.85	4.91	4.91	0.64330	.	0.167995	0.51477	D	0.000094	T	0.16981	0.0408	N	0.22421	0.69	0.42077	D	0.991238	B;B;B	0.33777	0.425;0.425;0.425	B;B;B	0.34931	0.192;0.192;0.136	T	0.07443	-1.0772	10	0.13108	T	0.6	-13.9558	12.8758	0.57989	0.0788:0.0:0.9212:0.0	.	658;658;658	A8K1E4;Q96RT8;E9PB12	.;GCP5_HUMAN;.	T	658	ENSP00000283645:S658T;ENSP00000409217:S658T	ENSP00000283645:S658T	S	+	2	0	TUBGCP5	20414393	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.908000	0.63307	2.442000	0.82660	0.591000	0.81541	AGT		0.403	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903	
NPAP1	23742	hgsc.bcm.edu	37	15	24923516	24923516	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:24923516C>T	ENST00000329468.2	+	1	2976	c.2502C>T	c.(2500-2502)gtC>gtT	p.V834V		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	834					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V834V(1)									CCAAAACTGTCATCTTGCAGT	0.498																																					p.V834V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2502T	15						.						134.0	122.0	126.0					15																	24923516		2203	4300	6503	22474609	SO:0001819	synonymous_variant	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2502C>T	15.37:g.24923516C>T		Somatic		Capture	SOLID	Phase_I	22474609	NM_018958		Silent	SNP	ENST00000329468.2	37	CCDS10015.1																																																																																				0.498	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
ATP10A	57194	hgsc.bcm.edu	37	15	25966818	25966818	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:25966818G>T	ENST00000356865.6	-	7	1460	c.1349C>A	c.(1348-1350)tCt>tAt	p.S450Y		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	450					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S450Y(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGCATCATGAGAATATTCTAC	0.463																																					p.S450Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1349A	15						.						111.0	101.0	104.0					15																	25966818		2203	4300	6503	23517911	SO:0001583	missense	57194	exon7			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1349C>A	15.37:g.25966818G>T	ENSP00000349325:p.Ser450Tyr	Somatic		Capture	SOLID	Phase_I	23517911	NM_024490	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401880	0.42613	.	.	ENSG00000206190	ENST00000356865	D	0.87491	-2.26	5.67	4.74	0.60224	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.92954	0.7758	M	0.80746	2.51	0.53688	D	0.999977	D	0.64830	0.994	D	0.70227	0.968	D	0.91854	0.5494	10	0.27082	T	0.32	-15.3102	16.6165	0.84917	0.0:0.1302:0.8698:0.0	.	450	O60312	AT10A_HUMAN	Y	450	ENSP00000349325:S450Y	ENSP00000349325:S450Y	S	-	2	0	ATP10A	23517911	1.000000	0.71417	0.973000	0.42090	0.034000	0.12701	9.530000	0.98051	1.373000	0.46208	0.643000	0.83706	TCT		0.463	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
GABRB3	2562	hgsc.bcm.edu	37	15	26825536	26825536	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:26825536T>C	ENST00000311550.5	-	6	723	c.612A>G	c.(610-612)gaA>gaG	p.E204E	GABRB3_ENST00000299267.4_Silent_p.E204E|GABRB3_ENST00000541819.2_Silent_p.E260E|GABRB3_ENST00000400188.3_Silent_p.E133E|GABRB3_ENST00000545868.1_Silent_p.E119E	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	204					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.E204E(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCTCAATCCTTTCCACTCCGG	0.542																																					p.E204E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A612G	15						.						129.0	112.0	118.0					15																	26825536		2203	4300	6503	24376629	SO:0001819	synonymous_variant	2562	exon6				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.612A>G	15.37:g.26825536T>C		Somatic		Capture	SOLID	Phase_I	24376629	NM_021912	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	CCDS10019.1																																																																																				0.542	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
FAN1	22909	hgsc.bcm.edu	37	15	31229421	31229421	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:31229421G>A	ENST00000362065.4	+	14	3307	c.3016G>A	c.(3016-3018)Gtg>Atg	p.V1006M		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	1006	VRR-NUC.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)	p.V1006M(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AGTCTGCCATGTGGTTGCAGT	0.438								Direct reversal of damage																													p.V1006M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3016A	15						.						111.0	109.0	110.0					15																	31229421		2202	4300	6502	29016713	SO:0001583	missense	22909	exon14				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.3016G>A	15.37:g.31229421G>A	ENSP00000354497:p.Val1006Met	Somatic		Capture	SOLID	Phase_I	29016713	NM_014967	A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521589	0.85600	.	.	ENSG00000198690	ENST00000362065	D	0.88354	-2.37	5.34	5.34	0.76211	VRR-NUC (1);	0.000000	0.85682	D	0.000000	D	0.96191	0.8758	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96897	0.9657	10	0.87932	D	0	-22.7844	19.4046	0.94643	0.0:0.0:1.0:0.0	.	1006;1006	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	M	1006	ENSP00000354497:V1006M	ENSP00000354497:V1006M	V	+	1	0	FAN1	29016713	1.000000	0.71417	0.681000	0.30009	0.706000	0.40770	9.417000	0.97391	2.657000	0.90304	0.655000	0.94253	GTG		0.438	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967	
EMC4	51234	hgsc.bcm.edu	37	15	34520707	34520707	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:34520707G>A	ENST00000267750.4	+	4	549	c.433G>A	c.(433-435)Gca>Aca	p.A145T	EMC4_ENST00000249209.4_Intron|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron|EMC4_ENST00000557879.1_3'UTR	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	145					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.A145T(1)									GATGGGTTTGGCATTGGCTGT	0.458																																					p.A145T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G433A	15						.						223.0	202.0	209.0					15																	34520707		2201	4298	6499	32307999	SO:0001583	missense	51234	exon4			BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"""transmembrane protein 85"""	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.433G>A	15.37:g.34520707G>A	ENSP00000267750:p.Ala145Thr	Somatic		Capture	SOLID	Phase_I	32307999	NM_016454	A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Missense_Mutation	SNP	ENST00000267750.4	37	CCDS10035.1	.	.	.	.	.	.	.	.	.	.	G	34	5.391915	0.95988	.	.	ENSG00000128463	ENST00000267750	T	0.49432	0.78	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.85542	2.76	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.73911	-0.3833	10	0.51188	T	0.08	-5.407	19.3116	0.94189	0.0:0.0:1.0:0.0	.	145	Q5J8M3	TMM85_HUMAN	T	145	ENSP00000267750:A145T	ENSP00000267750:A145T	A	+	1	0	TMEM85	32307999	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.801000	0.91905	2.864000	0.98301	0.549000	0.68633	GCA		0.458	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454	
LPCAT4	254531	hgsc.bcm.edu	37	15	34655900	34655900	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:34655900G>A	ENST00000314891.6	-	6	850	c.673C>T	c.(673-675)Cct>Tct	p.P225S	LPCAT4_ENST00000562431.1_5'Flank	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	225					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)	p.P225S(1)		NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GGCTGCACAGGCACCCCTGCG	0.532																																					p.P225S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C673T	15						.						108.0	96.0	100.0					15																	34655900		2201	4298	6499	32443192	SO:0001583	missense	254531	exon6			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.673C>T	15.37:g.34655900G>A	ENSP00000317300:p.Pro225Ser	Somatic		Capture	SOLID	Phase_I	32443192	NM_153613	A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	ENST00000314891.6	37	CCDS32191.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792894	0.90453	.	.	ENSG00000176454	ENST00000314891	D	0.94966	-3.57	5.49	5.49	0.81192	Phospholipid/glycerol acyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.97782	0.9272	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98298	1.0517	10	0.62326	D	0.03	-12.6226	18.1521	0.89677	0.0:0.0:1.0:0.0	.	225	Q643R3	LPCT4_HUMAN	S	225	ENSP00000317300:P225S	ENSP00000317300:P225S	P	-	1	0	LPCAT4	32443192	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.375000	0.79646	2.575000	0.86900	0.561000	0.74099	CCT		0.532	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613	
INO80	54617	hgsc.bcm.edu	37	15	41366579	41366579	+	Missense_Mutation	SNP	T	T	C	rs375547816		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:41366579T>C	ENST00000361937.3	-	10	1740	c.1316A>G	c.(1315-1317)cAg>cGg	p.Q439R	INO80_ENST00000401393.3_Missense_Mutation_p.Q439R			Q9ULG1	INO80_HUMAN	INO80 complex subunit	439	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.Q439R(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATAATCCTCCTGTGTGATGTT	0.378																																					p.Q439R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1316G	15						.	T	ARG/GLN	0,4406		0,0,2203	188.0	160.0	170.0		1316	5.5	1.0	15		170	1,8599	1.2+/-3.3	0,1,4299	no	missense	INO80	NM_017553.1	43	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	439/1557	41366579	1,13005	2203	4300	6503	39153871	SO:0001583	missense	54617	exon10			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1316A>G	15.37:g.41366579T>C	ENSP00000355205:p.Gln439Arg	Somatic		Capture	SOLID	Phase_I	39153871	NM_017553	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.443118	0.43326	0.0	1.16E-4	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91011	-2.77;-2.77	5.52	5.52	0.82312	.	0.059770	0.64402	D	0.000002	D	0.86871	0.6037	L	0.50333	1.59	0.58432	D	0.999991	B	0.06786	0.001	B	0.06405	0.002	T	0.82170	-0.0590	10	0.16420	T	0.52	.	14.2009	0.65705	0.0:0.0:0.0:1.0	.	439	Q9ULG1	INO80_HUMAN	R	439	ENSP00000355205:Q439R;ENSP00000384686:Q439R	ENSP00000355205:Q439R	Q	-	2	0	INO80	39153871	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.281000	0.72632	2.096000	0.63516	0.379000	0.24179	CAG		0.378	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
EXD1	161829	hgsc.bcm.edu	37	15	41476638	41476638	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:41476638C>A	ENST00000314992.5	-	10	1226	c.1036G>T	c.(1036-1038)Ggg>Tgg	p.G346W	EXD1_ENST00000458580.2_Missense_Mutation_p.G404W	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	346							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.G346W(1)		large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TCCTCTTTCCCTGCTGTCTCT	0.423																																					p.G346W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1036T	15						.						134.0	144.0	141.0					15																	41476638		2201	4298	6499	39263930	SO:0001583	missense	161829	exon10			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.1036G>T	15.37:g.41476638C>A	ENSP00000321029:p.Gly346Trp	Somatic		Capture	SOLID	Phase_I	39263930	NM_152596	A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218878	0.39201	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.67865	-0.29;-0.15	5.35	3.48	0.39840	.	0.281925	0.32488	N	0.006032	T	0.73822	0.3636	L	0.59436	1.845	0.09310	N	1	D;D;D	0.69078	0.979;0.99;0.997	P;P;D	0.71870	0.514;0.594;0.975	T	0.63260	-0.6677	10	0.87932	D	0	-13.9398	6.3682	0.21468	0.0:0.6479:0.1879:0.1642	.	404;346;144	B7Z839;Q8NHP7;Q8NHP7-2	.;EXD1_HUMAN;.	W	346;404	ENSP00000321029:G346W;ENSP00000415056:G404W	ENSP00000321029:G346W	G	-	1	0	EXD1	39263930	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.317000	0.19487	0.949000	0.37715	-0.137000	0.14449	GGG		0.423	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596	
RPAP1	26015	hgsc.bcm.edu	37	15	41827711	41827711	+	Splice_Site	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:41827711C>T	ENST00000304330.4	-	5	656	c.540G>A	c.(538-540)gaG>gaA	p.E180E	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Splice_Site_p.E180E	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	180						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.E180E(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCGGCTCACCCTCTGGTGGGC	0.512																																					p.E180E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G540A	15						.						75.0	78.0	77.0					15																	41827711		2203	4300	6503	39615003	SO:0001630	splice_region_variant	26015	exon5			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.541+1G>A	15.37:g.41827711C>T		Somatic		Capture	SOLID	Phase_I	39615003	NM_015540	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	37	CCDS10079.1																																																																																				0.512	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540	Silent
TYRO3	7301	hgsc.bcm.edu	37	15	41865277	41865277	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:41865277C>T	ENST00000263798.3	+	16	2177	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F	TYRO3_ENST00000559066.1_Silent_p.F606F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	651	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F651F(1)|p.F643F(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTCGGAACTTCATCCACCGAG	0.577																																					p.F651F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1953T	15						.						75.0	68.0	70.0					15																	41865277		2203	4300	6503	39652569	SO:0001819	synonymous_variant	7301	exon16			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1953C>T	15.37:g.41865277C>T		Somatic		Capture	SOLID	Phase_I	39652569	NM_006293	O14953|Q86VR3	Silent	SNP	ENST00000263798.3	37	CCDS10080.1																																																																																				0.577	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		
CAPN3	825	hgsc.bcm.edu	37	15	42701549	42701549	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:42701549C>T	ENST00000397163.3	+	17	2182	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W	CAPN3_ENST00000349748.3_Missense_Mutation_p.R563W|CAPN3_ENST00000569136.1_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_5'UTR|CAPN3_ENST00000356316.3_Missense_Mutation_p.R562W|CAPN3_ENST00000397200.4_Missense_Mutation_p.R143W|CAPN3_ENST00000318023.7_Missense_Mutation_p.R649W|CAPN3_ENST00000357568.3_Missense_Mutation_p.R649W|CAPN3_ENST00000561817.1_5'UTR|CAPN3_ENST00000397204.4_5'UTR	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	655	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R649W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GCAACAATTCCGGAACATTTT	0.527																																					p.R562W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1684T	15						.						92.0	78.0	83.0					15																	42701549		2203	4299	6502	40488841	SO:0001583	missense	825	exon20			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1963C>T	15.37:g.42701549C>T	ENSP00000380349:p.Arg655Trp	Somatic		Capture	SOLID	Phase_I	40488841	NM_212465	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526478	0.44969	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200	D;D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63;-3.63	5.05	-0.582	0.11709	EF-hand-like domain (1);	0.599812	0.13192	N	0.406691	D	0.92828	0.7719	M	0.76727	2.345	0.50467	D	0.999876	D;B;D;B;B;B	0.58268	0.982;0.032;0.971;0.016;0.009;0.076	P;B;P;B;B;B	0.49421	0.61;0.008;0.58;0.018;0.008;0.042	D	0.88080	0.2806	10	0.62326	D	0.03	.	1.0034	0.01482	0.286:0.3364:0.2081:0.1695	.	520;568;563;649;655;562	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	W	562;143;655;649;563;649;143	ENSP00000348667:R562W;ENSP00000380349:R655W;ENSP00000350181:R649W;ENSP00000183936:R563W;ENSP00000326281:R649W;ENSP00000380384:R143W	ENSP00000326281:R649W	R	+	1	2	CAPN3	40488841	1.000000	0.71417	0.486000	0.27416	0.972000	0.66771	1.451000	0.35145	0.049000	0.15920	-0.126000	0.14955	CGG		0.527	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1		
ZNF106	64397	hgsc.bcm.edu	37	15	42742856	42742856	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:42742856T>C	ENST00000263805.4	-	2	1871	c.1545A>G	c.(1543-1545)aaA>aaG	p.K515K	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	515					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K515K(1)									TTTTATTCCCTTTTAAAACAT	0.413																																					p.K515K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1545G	15						.						152.0	151.0	152.0					15																	42742856		2203	4299	6502	40530148	SO:0001819	synonymous_variant	64397	exon2			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1545A>G	15.37:g.42742856T>C		Somatic		Capture	SOLID	Phase_I	40530148	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																				0.413	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473	
EPB42	2038	hgsc.bcm.edu	37	15	43494168	43494168	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:43494168T>G	ENST00000441366.2	-	12	2012	c.1787A>C	c.(1786-1788)gAg>gCg	p.E596A	EPB42_ENST00000300215.3_Missense_Mutation_p.E626A|EPB42_ENST00000540029.1_Missense_Mutation_p.E518A|EPB42_ENST00000563128.1_5'UTR	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	596					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)	p.E626A(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CTCTGCTTTCTCTGGCATCTG	0.572																																					p.E596A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1787C	15						.						121.0	107.0	112.0					15																	43494168		2203	4299	6502	41281460	SO:0001583	missense	2038	exon12			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1787A>C	15.37:g.43494168T>G	ENSP00000396616:p.Glu596Ala	Somatic		Capture	SOLID	Phase_I	41281460	NM_001114134	Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809999	0.31961	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.70631	-0.5;-0.5;-0.5	4.59	4.59	0.56863	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.420734	0.27491	N	0.019140	T	0.66366	0.2782	L	0.57536	1.79	0.25857	N	0.98387	P;B;B	0.44139	0.827;0.242;0.285	B;B;B	0.41510	0.359;0.107;0.171	T	0.64846	-0.6311	10	0.54805	T	0.06	-10.3173	10.5276	0.44958	0.0:0.0:0.0:1.0	.	518;626;596	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	A	626;518;596;524	ENSP00000300215:E626A;ENSP00000444699:E518A;ENSP00000396616:E596A	ENSP00000300215:E626A	E	-	2	0	EPB42	41281460	0.987000	0.35691	0.685000	0.30070	0.991000	0.79684	3.657000	0.54474	2.042000	0.60477	0.459000	0.35465	GAG		0.572	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119	
EPB42	2038	hgsc.bcm.edu	37	15	43501480	43501480	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:43501480G>A	ENST00000441366.2	-	6	1049	c.824C>T	c.(823-825)gCt>gTt	p.A275V	EPB42_ENST00000300215.3_Missense_Mutation_p.A305V|EPB42_ENST00000540029.1_Missense_Mutation_p.A197V|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	275					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)	p.A305V(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACCTGTGCAAGCAACAGCAGC	0.637																																					p.A275V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C824T	15						.						58.0	55.0	56.0					15																	43501480		2203	4299	6502	41288772	SO:0001583	missense	2038	exon6			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.824C>T	15.37:g.43501480G>A	ENSP00000396616:p.Ala275Val	Somatic		Capture	SOLID	Phase_I	41288772	NM_001114134	Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370305	0.24771	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.88586	-2.4;-2.4;-2.4	4.69	3.76	0.43208	Transglutaminase, conserved site (1);Transglutaminase-like (2);	0.347129	0.31051	N	0.008359	T	0.81273	0.4788	L	0.42581	1.335	0.09310	N	1	B;P;P;P	0.38827	0.264;0.555;0.649;0.555	B;B;B;B	0.37731	0.124;0.257;0.167;0.257	T	0.68194	-0.5473	10	0.12103	T	0.63	-0.1511	7.5732	0.27920	0.1932:0.0:0.8068:0.0	.	197;275;305;275	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	V	305;197;275;275	ENSP00000300215:A305V;ENSP00000444699:A197V;ENSP00000396616:A275V	ENSP00000300215:A305V	A	-	2	0	EPB42	41288772	0.042000	0.20092	0.494000	0.27515	0.316000	0.28119	1.784000	0.38674	1.284000	0.44531	0.655000	0.94253	GCT		0.637	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119	
DUOX2	50506	hgsc.bcm.edu	37	15	45391968	45391968	+	Missense_Mutation	SNP	G	G	A	rs144923217		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:45391968G>A	ENST00000603300.1	-	25	3509	c.3307C>T	c.(3307-3309)Cgc>Tgc	p.R1103C	DUOX2_ENST00000389039.6_Missense_Mutation_p.R1103C	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1103	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.R1103C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ATGAGGTTGCGGCACATGGTG	0.562																																					p.R1103C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3307T	15						.	G	CYS/ARG	0,4396		0,0,2198	135.0	121.0	126.0		3307	5.6	1.0	15	dbSNP_134	126	1,8595	1.2+/-3.3	0,1,4297	no	missense	DUOX2	NM_014080.4	180	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1103/1549	45391968	1,12991	2198	4298	6496	43179260	SO:0001583	missense	50506	exon25			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3307C>T	15.37:g.45391968G>A	ENSP00000475084:p.Arg1103Cys	Somatic		Capture	SOLID	Phase_I	43179260	NM_014080	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323210	0.95708	0.0	1.16E-4	ENSG00000140279	ENST00000389039	.	.	.	5.6	5.6	0.85130	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.87807	0.6270	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91034	0.4866	9	0.87932	D	0	-22.0348	18.6061	0.91266	0.0:0.0:1.0:0.0	.	1103	Q9NRD8	DUOX2_HUMAN	C	1103	.	ENSP00000373691:R1103C	R	-	1	0	DUOX2	43179260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.732000	0.98816	2.653000	0.90120	0.563000	0.77884	CGC		0.562	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	
SHF	90525	hgsc.bcm.edu	37	15	45470476	45470476	+	Missense_Mutation	SNP	G	G	A	rs140199133	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:45470476G>A	ENST00000560734.1	-	2	527	c.527C>T	c.(526-528)cCg>cTg	p.P176L	SHF_ENST00000290894.8_Missense_Mutation_p.P111L|SHF_ENST00000560540.1_Missense_Mutation_p.P176L|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560471.1_Missense_Mutation_p.P176L|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000458022.2_5'UTR|SHF_ENST00000318390.6_Missense_Mutation_p.P168L					Src homology 2 domain containing F									p.P111L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		AACATCAAACGGGTCCGCATA	0.547													G|||	7	0.00139776	0.0008	0.0	5008	,	,		18748	0.0		0.001	False		,,,				2504	0.0051				p.P111L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C332T	15						.	G	LEU/PRO	2,4394	4.2+/-10.8	0,2,2196	60.0	59.0	59.0		332	5.9	1.0	15	dbSNP_134	59	7,8589	5.7+/-21.5	0,7,4291	yes	missense	SHF	NM_138356.2	98	0,9,6487	AA,AG,GG		0.0814,0.0455,0.0693	probably-damaging	111/424	45470476	9,12983	2198	4298	6496	43257768	SO:0001583	missense	90525	exon3			BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"""SH2 domain containing"""	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000560734.1:c.527C>T	15.37:g.45470476G>A	ENSP00000453168:p.Pro176Leu	Somatic		Capture	SOLID	Phase_I	43257768	NM_138356		Missense_Mutation	SNP	ENST00000560734.1	37		2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	25.2	4.617754	0.87359	4.55E-4	8.14E-4	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390;ENST00000413198	T;T	0.68331	-0.17;-0.32	5.92	5.92	0.95590	.	0.145391	0.46442	D	0.000284	T	0.79411	0.4441	M	0.67569	2.06	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.80509	-0.1351	10	0.87932	D	0	-18.6209	17.8186	0.88643	0.0:0.0:1.0:0.0	.	111	Q7M4L6	SHF_HUMAN	L	111;111;168;101	ENSP00000290894:P111L;ENSP00000315978:P168L	ENSP00000290894:P111L	P	-	2	0	SHF	43257768	1.000000	0.71417	0.953000	0.39169	0.522000	0.34438	9.430000	0.97488	2.818000	0.97014	0.655000	0.94253	CCG		0.547	SHF-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000416338.1	NM_138356	
SLC24A5	283652	hgsc.bcm.edu	37	15	48414087	48414087	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:48414087C>T	ENST00000341459.3	+	2	228	c.155C>T	c.(154-156)tCg>tTg	p.S52L	SLC24A5_ENST00000449382.2_Intron|SLC24A5_ENST00000482911.2_Missense_Mutation_p.S52L	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	52					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.S52L(1)|p.S52*(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TCTCCATCATCGGAGTTTCCC	0.423																																					p.S52L												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.C155T	15						.						117.0	121.0	120.0					15																	48414087		2198	4297	6495	46201379	SO:0001583	missense	283652	exon2			AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.155C>T	15.37:g.48414087C>T	ENSP00000341550:p.Ser52Leu	Somatic		Capture	SOLID	Phase_I	46201379	NM_205850	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121742	0.56613	.	.	ENSG00000188467	ENST00000341459	T	0.75050	-0.9	6.03	5.09	0.68999	.	0.065643	0.64402	N	0.000004	T	0.60508	0.2274	N	0.25332	0.735	0.80722	D	1	B;B	0.28850	0.008;0.225	B;B	0.17722	0.002;0.019	T	0.57412	-0.7816	10	0.30078	T	0.28	.	14.1354	0.65284	0.0:0.9251:0.0:0.0749	.	52;52	Q71RS6;A5X8Z8	NCKX5_HUMAN;.	L	52	ENSP00000341550:S52L	ENSP00000341550:S52L	S	+	2	0	SLC24A5	46201379	0.990000	0.36364	0.296000	0.24974	0.984000	0.73092	3.042000	0.49815	1.492000	0.48499	0.655000	0.94253	TCG		0.423	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850	
AP4E1	23431	hgsc.bcm.edu	37	15	51294759	51294759	+	Missense_Mutation	SNP	G	G	A	rs139640763		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:51294759G>A	ENST00000261842.5	+	21	3420	c.3314G>A	c.(3313-3315)cGa>cAa	p.R1105Q	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.R1030Q	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1105					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.R1105Q(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTGCATTGCCGAGTTCATGCA	0.438																																					p.R1105Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3314A	15						.	G	GLN/ARG	1,4391	2.1+/-5.4	0,1,2195	300.0	241.0	261.0		3314	5.5	1.0	15	dbSNP_134	261	0,8588		0,0,4294	no	missense	AP4E1	NM_007347.3	43	0,1,6489	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	1105/1138	51294759	1,12979	2196	4294	6490	49082051	SO:0001583	missense	23431	exon21			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.3314G>A	15.37:g.51294759G>A	ENSP00000261842:p.Arg1105Gln	Somatic		Capture	SOLID	Phase_I	49082051	NM_007347	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	23.4	4.405957	0.83230	2.28E-4	0.0	ENSG00000081014	ENST00000261842	T	0.22743	1.94	5.49	5.49	0.81192	Coatomer, beta subunit, C-terminal (1);	0.062472	0.64402	D	0.000004	T	0.40498	0.1119	L	0.59436	1.845	0.50039	D	0.999849	D	0.89917	1.0	D	0.70016	0.967	T	0.15521	-1.0434	10	0.72032	D	0.01	-8.1017	11.7797	0.52006	0.0798:0.0:0.9201:0.0	.	1105	Q9UPM8	AP4E1_HUMAN	Q	1105	ENSP00000261842:R1105Q	ENSP00000261842:R1105Q	R	+	2	0	AP4E1	49082051	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	5.867000	0.69597	2.576000	0.86940	0.591000	0.81541	CGA		0.438	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1		
TNFAIP8L3	388121	hgsc.bcm.edu	37	15	51350490	51350490	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:51350490G>A	ENST00000327536.5	-	3	566	c.467C>T	c.(466-468)aCa>aTa	p.T156I	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	156								p.T156I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		CTTGTTGTGTGTGTGCTCTTT	0.453																																					p.T156I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C467T	15						.						310.0	252.0	272.0					15																	51350490		2196	4293	6489	49137782	SO:0001583	missense	388121	exon3			AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.467C>T	15.37:g.51350490G>A	ENSP00000328016:p.Thr156Ile	Somatic		Capture	SOLID	Phase_I	49137782	NM_207381	Q6ZWD1	Missense_Mutation	SNP	ENST00000327536.5	37	CCDS32241.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.582247	0.46006	.	.	ENSG00000183578	ENST00000327536	T	0.37752	1.18	5.48	4.57	0.56435	.	0.135830	0.64402	N	0.000002	T	0.36580	0.0972	M	0.79475	2.455	0.58432	D	0.999998	P	0.34977	0.478	B	0.29942	0.109	T	0.28170	-1.0052	10	0.48119	T	0.1	-12.0917	9.7284	0.40346	0.1573:0.0:0.8427:0.0	.	156	Q5GJ75	TP8L3_HUMAN	I	156	ENSP00000328016:T156I	ENSP00000328016:T156I	T	-	2	0	TNFAIP8L3	49137782	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	6.733000	0.74796	1.312000	0.45043	0.508000	0.49915	ACA		0.453	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381	
ALDH1A2	8854	hgsc.bcm.edu	37	15	58357769	58357769	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:58357769G>A	ENST00000249750.4	-	1	847	c.80C>T	c.(79-81)cCg>cTg	p.P27L	ALDH1A2_ENST00000558231.1_Intron|ALDH1A2_ENST00000537372.1_5'UTR|CTD-2330J20.2_ENST00000559684.1_RNA|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.P27L	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	27					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.P27L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CGTGGGCGACGGCAGGAGGTG	0.642																																					p.P27L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C80T	15						.						36.0	39.0	38.0					15																	58357769		2192	4292	6484	56145061	SO:0001583	missense	8854	exon1			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.80C>T	15.37:g.58357769G>A	ENSP00000249750:p.Pro27Leu	Somatic		Capture	SOLID	Phase_I	56145061	NM_003888	B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144706	0.94603	.	.	ENSG00000128918	ENST00000249750;ENST00000347587	T;T	0.75589	-0.95;-0.94	3.71	2.79	0.32731	Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	L	0.29908	0.895	0.80722	D	1	P;D	0.58268	0.932;0.982	P;P	0.52189	0.692;0.495	T	0.71314	-0.4630	10	0.87932	D	0	.	10.288	0.43579	0.0982:0.0:0.9018:0.0	.	27;27	O94788-2;O94788	.;AL1A2_HUMAN	L	27	ENSP00000249750:P27L;ENSP00000309623:P27L	ENSP00000249750:P27L	P	-	2	0	ALDH1A2	56145061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.524000	0.90579	0.794000	0.33899	0.558000	0.71614	CCG		0.642	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1		
RORA	6095	hgsc.bcm.edu	37	15	60919494	60919494	+	Intron	SNP	C	C	T	rs572542837		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:60919494C>T	ENST00000335670.6	-	2	297				RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.R27Q|RORA_ENST00000309157.4_Missense_Mutation_p.R27Q|RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000558235.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A						angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R27Q(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						CTGTCCAGTTCGAAGACAATG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		19253	0.0		0.0	False		,,,				2504	0.001				p.R27Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G80A	15						.						211.0	153.0	173.0					15																	60919494		2203	4300	6503	58706786	SO:0001627	intron_variant	6095	exon1			U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.196+51361G>A	15.37:g.60919494C>T		Somatic		Capture	SOLID	Phase_I	58706786	NM_134260	P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	C	4.496	0.091984	0.08632	.	.	ENSG00000069667	ENST00000309157;ENST00000261523	D;D	0.95103	-3.61;-3.51	3.43	-3.22	0.05125	.	.	.	.	.	T	0.80523	0.4639	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.70761	-0.4784	9	0.09338	T	0.73	.	0.1176	0.00062	0.3472:0.1917:0.1615:0.2996	.	27;27	P35398-3;P35398	.;RORA_HUMAN	Q	27	ENSP00000309753:R27Q;ENSP00000261523:R27Q	ENSP00000261523:R27Q	R	-	2	0	RORA	58706786	0.006000	0.16342	0.000000	0.03702	0.013000	0.08279	-0.019000	0.12546	-0.656000	0.05380	-0.140000	0.14226	CGA		0.537	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2		
APH1B	83464	hgsc.bcm.edu	37	15	63578822	63578822	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:63578822C>T	ENST00000261879.5	+	3	420	c.350C>T	c.(349-351)gCc>gTc	p.A117V	APH1B_ENST00000380343.4_Missense_Mutation_p.A117V	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	117					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)	p.A117V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						CGACTGCTGGCCTATGGTAAG	0.353																																					p.A117V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C350T	15						.						57.0	56.0	56.0					15																	63578822		2203	4300	6503	61365875	SO:0001583	missense	83464	exon3			AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"""anterior pharynx defective 1 homolog B (C. elegans)"""			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.350C>T	15.37:g.63578822C>T	ENSP00000261879:p.Ala117Val	Somatic		Capture	SOLID	Phase_I	61365875	NM_031301	A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	ENST00000261879.5	37	CCDS10184.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554468	0.86231	.	.	ENSG00000138613	ENST00000380343;ENST00000261879	T;T	0.56941	0.43;0.43	5.63	4.69	0.59074	.	0.133219	0.49305	D	0.000145	T	0.72985	0.3529	M	0.89904	3.07	0.58432	D	0.999995	P;P	0.49358	0.904;0.923	P;P	0.58172	0.784;0.834	T	0.78732	-0.2089	10	0.87932	D	0	-6.2562	12.3845	0.55325	0.0:0.8305:0.1695:0.0	.	117;117	Q564N3;Q8WW43	.;APH1B_HUMAN	V	117	ENSP00000369700:A117V;ENSP00000261879:A117V	ENSP00000261879:A117V	A	+	2	0	APH1B	61365875	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.473000	0.53122	1.344000	0.45657	0.591000	0.81541	GCC		0.353	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256337.1	NM_031301	
CA12	771	hgsc.bcm.edu	37	15	63632562	63632562	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:63632562G>T	ENST00000178638.3	-	7	1112	c.672C>A	c.(670-672)tcC>tcA	p.S224S	CA12_ENST00000344366.3_Silent_p.S224S|CA12_ENST00000422263.2_Silent_p.S164S	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	224					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.S224S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GTGTGGTCAGGGACCCCCGGT	0.562																																					p.S224S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C672A	15						.						76.0	72.0	73.0					15																	63632562		2203	4300	6503	61419615	SO:0001819	synonymous_variant	771	exon7			AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.672C>A	15.37:g.63632562G>T		Somatic		Capture	SOLID	Phase_I	61419615	NM_001218	B2RE24|Q53YE5|Q9BWG2	Silent	SNP	ENST00000178638.3	37	CCDS10185.1																																																																																				0.562	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218	
ZNF609	23060	hgsc.bcm.edu	37	15	64972937	64972937	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:64972937G>T	ENST00000326648.3	+	7	4166	c.4038G>T	c.(4036-4038)ggG>ggT	p.G1346G		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1346						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.G1346G(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCAAGTGGGGGTGAACGGA	0.602																																					p.G1346G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4038T	15						.						92.0	104.0	100.0					15																	64972937		2202	4299	6501	62759990	SO:0001819	synonymous_variant	23060	exon7			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.4038G>T	15.37:g.64972937G>T		Somatic		Capture	SOLID	Phase_I	62759990	NM_015042	Q0D2I2	Silent	SNP	ENST00000326648.3	37	CCDS32270.1																																																																																				0.602	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833	
PKM	5315	hgsc.bcm.edu	37	15	72509840	72509840	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:72509840G>A	ENST00000335181.5	-	3	259	c.156C>T	c.(154-156)ggC>ggT	p.G52G	PKM_ENST00000319622.6_Splice_Site_p.G52G|PKM_ENST00000568883.1_Intron|PKM_ENST00000565184.1_Splice_Site_p.G52G|PKM_ENST00000565154.1_Splice_Site_p.G52G|PKM_ENST00000568459.1_Splice_Site_p.G52G|PKM_ENST00000449901.2_Intron|PKM_ENST00000389093.3_Splice_Site_p.G52G	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	52					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.G52G(1)		endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	GGGAAGCTGGGCCTATTAGGA	0.373																																					p.G52G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C156T	15						.						83.0	79.0	80.0					15																	72509840		2199	4297	6496	70296894	SO:0001630	splice_region_variant	5315	exon3			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.155-1C>T	15.37:g.72509840G>A		Somatic		Capture	SOLID	Phase_I	70296894	NM_002654	A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	CCDS32284.1																																																																																				0.373	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1		Silent
SEMA7A	8482	hgsc.bcm.edu	37	15	74703971	74703971	+	Silent	SNP	G	G	A	rs376890546		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:74703971G>A	ENST00000261918.4	-	12	2051	c.1503C>T	c.(1501-1503)caC>caT	p.H501H	SEMA7A_ENST00000543145.2_Silent_p.H487H|SEMA7A_ENST00000542748.1_Silent_p.H336H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	501					axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.H501H(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGAGGCAACCGTGGCAGCCCC	0.637																																					p.H501H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1503T	15						.	G	,,	0,4394		0,0,2197	42.0	46.0	45.0		1461,1008,1503	-9.0	0.9	15		45	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	,,	487/653,336/502,501/667	74703971	1,12985	2197	4296	6493	72491024	SO:0001819	synonymous_variant	8482	exon12			AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1503C>T	15.37:g.74703971G>A		Somatic		Capture	SOLID	Phase_I	72491024	NM_003612	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	CCDS10262.1																																																																																				0.637	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612	
SEMA7A	8482	hgsc.bcm.edu	37	15	74707235	74707235	+	Missense_Mutation	SNP	G	G	A	rs190892291		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:74707235G>A	ENST00000261918.4	-	9	1587	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C	SEMA7A_ENST00000543145.2_Missense_Mutation_p.R333C|SEMA7A_ENST00000542748.1_Missense_Mutation_p.R182C	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	347	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.		R -> L (rare polymorphism that results in JMH-variant phenotype). {ECO:0000269|PubMed:20854351}.		axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R347C(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GAGGAGGTACGGAAGACCTTG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19954	0.001		0.0	False		,,,				2504	0.0				p.R347C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1039T	15						.						144.0	118.0	127.0					15																	74707235		2197	4296	6493	72494288	SO:0001583	missense	8482	exon9			AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1039C>T	15.37:g.74707235G>A	ENSP00000261918:p.Arg347Cys	Somatic		Capture	SOLID	Phase_I	72494288	NM_003612	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	CCDS10262.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.15	3.042263	0.55003	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.10099	2.91;2.91;2.91	5.61	4.69	0.59074	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.411667	0.27526	N	0.018979	T	0.07188	0.0182	N	0.20986	0.625	0.58432	D	0.999994	B;P	0.34800	0.189;0.469	B;B	0.20384	0.017;0.029	T	0.26155	-1.0111	10	0.56958	D	0.05	-16.2718	12.8506	0.57855	0.0764:0.0:0.9236:0.0	.	333;347	F5H1S0;O75326	.;SEM7A_HUMAN	C	347;333;182	ENSP00000261918:R347C;ENSP00000438966:R333C;ENSP00000441493:R182C	ENSP00000261918:R347C	R	-	1	0	SEMA7A	72494288	0.079000	0.21365	0.998000	0.56505	0.957000	0.61999	0.720000	0.25896	1.531000	0.49152	0.555000	0.69702	CGT		0.612	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612	
UBL7	84993	hgsc.bcm.edu	37	15	74742335	74742335	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:74742335C>T	ENST00000567435.1	-	7	1069	c.606G>A	c.(604-606)atG>atA	p.M202I	UBL7_ENST00000564488.1_Missense_Mutation_p.M202I|UBL7_ENST00000395081.2_Missense_Mutation_p.M202I|UBL7_ENST00000565335.1_Missense_Mutation_p.M202I|UBL7_ENST00000361351.4_Missense_Mutation_p.M202I			Q96S82	UBL7_HUMAN	ubiquitin-like 7	202								p.M202I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CAGTCCCAGGCATTGGGGCAC	0.597																																					p.M202I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G606A	15						.						60.0	48.0	52.0					15																	74742335		2197	4296	6493	72529388	SO:0001583	missense	84993	exon7			BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.606G>A	15.37:g.74742335C>T	ENSP00000457703:p.Met202Ile	Somatic		Capture	SOLID	Phase_I	72529388	NM_201265	D3DW57|Q96I03	Missense_Mutation	SNP	ENST00000567435.1	37	CCDS10263.1	.	.	.	.	.	.	.	.	.	.	C	3.699	-0.061848	0.07317	.	.	ENSG00000138629	ENST00000361351;ENST00000395081	T;T	0.42131	0.98;0.98	5.37	3.35	0.38373	.	0.490245	0.23840	N	0.044047	T	0.21631	0.0521	N	0.08118	0	0.23598	N	0.997322	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.14364	-1.0475	10	0.23891	T	0.37	-7.2588	11.1416	0.48406	0.0:0.7422:0.1747:0.0832	.	242;202	D3DW56;Q96S82	.;UBL7_HUMAN	I	202	ENSP00000354883:M202I;ENSP00000378518:M202I	ENSP00000354883:M202I	M	-	3	0	UBL7	72529388	0.445000	0.25657	0.965000	0.40720	0.182000	0.23217	0.305000	0.19254	1.282000	0.44496	0.650000	0.86243	ATG		0.597	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265	
CLK3	1198	hgsc.bcm.edu	37	15	74919938	74919938	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:74919938C>T	ENST00000395066.3	+	9	1876	c.1415C>T	c.(1414-1416)gCc>gTc	p.A472V	CLK3_ENST00000345005.4_Missense_Mutation_p.A324V|CLK3_ENST00000352989.5_Missense_Mutation_p.A301V|CLK3_ENST00000348245.3_3'UTR	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	472	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.A324V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TTTGGCAGTGCCACATTTGAC	0.567																																					p.A472V	Ovarian(133;694 1754 28950 29027 31859)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1415T	15						.						201.0	167.0	179.0					15																	74919938		2197	4296	6493	72706991	SO:0001583	missense	1198	exon9			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1415C>T	15.37:g.74919938C>T	ENSP00000378505:p.Ala472Val	Somatic		Capture	SOLID	Phase_I	72706991	NM_001130028	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	C	36	5.713904	0.96830	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T	0.75821	-0.97;-0.97	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.89008	0.6593	M	0.88031	2.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.997	D	0.90507	0.4478	10	0.87932	D	0	.	19.2366	0.93862	0.0:1.0:0.0:0.0	.	472;177;251;301	P49761;B3KVF3;B3KUU7;G5E959	CLK3_HUMAN;.;.;.	V	324;324;472;301	ENSP00000344112:A324V;ENSP00000323106:A301V	ENSP00000344112:A324V	A	+	2	0	CLK3	72706991	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.726000	0.84824	2.651000	0.90000	0.561000	0.74099	GCC		0.567	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3		
CYP1A2	1544	hgsc.bcm.edu	37	15	75043582	75043582	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:75043582C>T	ENST00000343932.4	+	3	947	c.884C>T	c.(883-885)cCt>cTt	p.P295L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	295					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.P295L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	AAGAAGGGGCCTAGAGCCAGC	0.557																																					p.P295L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C884T	15						.						135.0	107.0	117.0					15																	75043582		2197	4296	6493	72830635	SO:0001583	missense	1544	exon3			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.884C>T	15.37:g.75043582C>T	ENSP00000342007:p.Pro295Leu	Somatic		Capture	SOLID	Phase_I	72830635	NM_000761	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088250	0.36855	.	.	ENSG00000140505	ENST00000343932	T	0.79352	-1.26	4.85	1.61	0.23674	.	0.516289	0.22578	N	0.058253	T	0.54598	0.1868	N	0.04245	-0.25	0.09310	N	1	P	0.41420	0.749	B	0.42851	0.4	T	0.51458	-0.8703	10	0.72032	D	0.01	.	4.024	0.09678	0.1853:0.5252:0.0:0.2895	.	295	P05177-2	.	L	295	ENSP00000342007:P295L	ENSP00000342007:P295L	P	+	2	0	CYP1A2	72830635	0.000000	0.05858	0.005000	0.12908	0.007000	0.05969	0.585000	0.23879	0.595000	0.29777	0.462000	0.41574	CCT		0.557	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761	
CIB2	10518	hgsc.bcm.edu	37	15	78398176	78398176	+	Silent	SNP	G	G	A	rs376577933		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:78398176G>A	ENST00000258930.3	-	5	775	c.447C>T	c.(445-447)tgC>tgT	p.C149C	CIB2_ENST00000560618.1_Silent_p.C106C|CIB2_ENST00000539011.1_Silent_p.C106C|CIB2_ENST00000557846.1_Silent_p.C100C	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	149	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.C149C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						TGACCTTGTCGCACACAAGCA	0.567																																					p.C149C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C447T	15						.	G		0,4392		0,0,2196	219.0	172.0	188.0		447	-8.9	0.5	15		188	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	CIB2	NM_006383.2		0,1,6488	AA,AG,GG		0.0116,0.0,0.0077		149/188	78398176	1,12977	2196	4293	6489	76185231	SO:0001819	synonymous_variant	10518	exon5			BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.447C>T	15.37:g.78398176G>A		Somatic		Capture	SOLID	Phase_I	76185231	NM_006383	B4DDF0|H0YM71|Q05BT6	Silent	SNP	ENST00000258930.3	37	CCDS10296.1																																																																																				0.567	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383	
ARNT2	9915	hgsc.bcm.edu	37	15	80762764	80762764	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:80762764A>G	ENST00000303329.4	+	4	565	c.400A>G	c.(400-402)Aca>Gca	p.T134A	ARNT2_ENST00000533983.1_Missense_Mutation_p.T123A|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Missense_Mutation_p.T123A	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	134	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.T134A(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TTCCTTCCTCACAGAGCAGGT	0.562																																					p.T134A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A400G	15						.						84.0	58.0	67.0					15																	80762764		2203	4300	6503	78549819	SO:0001583	missense	9915	exon4			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.400A>G	15.37:g.80762764A>G	ENSP00000307479:p.Thr134Ala	Somatic		Capture	SOLID	Phase_I	78549819	NM_014862	B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524866	0.85600	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.06371	3.31	5.0	5.0	0.66597	PAS (1);Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.25754	0.0627	M	0.87827	2.91	0.80722	D	1	D;P	0.57257	0.979;0.458	P;B	0.59056	0.851;0.313	T	0.05550	-1.0878	10	0.72032	D	0.01	.	14.8575	0.70351	1.0:0.0:0.0:0.0	.	134;134	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	A	123;134;134	ENSP00000307479:T134A	ENSP00000307479:T134A	T	+	1	0	ARNT2	78549819	1.000000	0.71417	0.765000	0.31456	0.879000	0.50718	8.697000	0.91307	2.099000	0.63709	0.528000	0.53228	ACA		0.562	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		
CEMIP	57214	hgsc.bcm.edu	37	15	81221462	81221462	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:81221462G>A	ENST00000394685.3	+	21	2978	c.2559G>A	c.(2557-2559)agG>agA	p.R853R	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Silent_p.R853R|KIAA1199_ENST00000220244.3_Silent_p.R853R			Q8WUJ3	CEMIP_HUMAN		853					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGACAATAGGATCTGGGGCC	0.527																																					p.R853R												.	.	0			c.G2559A	15						.						141.0	132.0	135.0					15																	81221462		2203	4300	6503	79008517	SO:0001819	synonymous_variant	57214	exon20																														ENST00000394685.3:c.2559G>A	15.37:g.81221462G>A		Somatic		Capture	SOLID	Phase_I	79008517	NM_018689	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																				0.527	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		
BNC1	646	hgsc.bcm.edu	37	15	83932373	83932373	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:83932373T>C	ENST00000345382.2	-	4	1715	c.1630A>G	c.(1630-1632)Atc>Gtc	p.I544V	BNC1_ENST00000569704.1_Missense_Mutation_p.I537V|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	544					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I544V(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TCTATTTTGATAGGCATACTG	0.453																																					p.I544V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1630G	15						.						141.0	136.0	138.0					15																	83932373		2203	4300	6503	81723377	SO:0001583	missense	646	exon4			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1630A>G	15.37:g.83932373T>C	ENSP00000307041:p.Ile544Val	Somatic		Capture	SOLID	Phase_I	81723377	NM_001717	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.540153	0.27563	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.41400	1.0	5.14	5.14	0.70334	.	0.051027	0.85682	D	0.000000	T	0.52092	0.1713	L	0.42686	1.345	0.52501	D	0.999952	D;P	0.67145	0.996;0.816	D;B	0.77557	0.99;0.232	T	0.42699	-0.9436	10	0.07990	T	0.79	-31.5399	15.1235	0.72463	0.0:0.0:0.0:1.0	.	537;544	F5GY04;Q01954	.;BNC1_HUMAN	V	544;537	ENSP00000307041:I544V	ENSP00000307041:I544V	I	-	1	0	BNC1	81723377	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	5.960000	0.70348	2.154000	0.67381	0.533000	0.62120	ATC		0.453	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
ZNF592	9640	hgsc.bcm.edu	37	15	85327597	85327597	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:85327597C>T	ENST00000560079.2	+	4	1979	c.1691C>T	c.(1690-1692)cCc>cTc	p.P564L	ZNF592_ENST00000299927.3_Missense_Mutation_p.P564L	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	564					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCTCCAACCCCGTGCCCCTC	0.597																																					p.P564L												.	.	0			c.C1691T	15						.						98.0	100.0	99.0					15																	85327597		2203	4299	6502	83128601	SO:0001583	missense	9640	exon4			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1691C>T	15.37:g.85327597C>T	ENSP00000452877:p.Pro564Leu	Somatic		Capture	SOLID	Phase_I	83128601	NM_014630	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786564	0.70337	.	.	ENSG00000166716	ENST00000299927	T	0.00614	6.21	4.85	4.85	0.62838	.	0.050499	0.85682	D	0.000000	T	0.01592	0.0051	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81120	-0.1077	10	0.40728	T	0.16	-17.6598	15.5092	0.75766	0.0:1.0:0.0:0.0	.	564	Q92610	ZN592_HUMAN	L	564	ENSP00000299927:P564L	ENSP00000299927:P564L	P	+	2	0	ZNF592	83128601	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.817000	0.69229	2.503000	0.84419	0.655000	0.94253	CCC		0.597	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630	
ALPK3	57538	hgsc.bcm.edu	37	15	85411532	85411532	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:85411532C>A	ENST00000258888.5	+	14	5736	c.5569C>A	c.(5569-5571)Cag>Aag	p.Q1857K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1857					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCTGAGTCCTCAGCCCCAGAA	0.622																																					p.Q1857K												.	.	0			c.C5569A	15						.						56.0	62.0	60.0					15																	85411532		2203	4299	6502	83212536	SO:0001583	missense	57538	exon14			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5569C>A	15.37:g.85411532C>A	ENSP00000258888:p.Gln1857Lys	Somatic		Capture	SOLID	Phase_I	83212536	NM_020778	Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395997	0.83011	.	.	ENSG00000136383	ENST00000258888	T	0.64085	-0.08	4.04	4.04	0.47022	.	0.800091	0.11240	N	0.584754	T	0.78272	0.4257	M	0.74258	2.255	0.46849	D	0.999227	D;D	0.69078	0.997;0.961	D;P	0.73380	0.98;0.741	T	0.75682	-0.3233	10	0.45353	T	0.12	-17.9354	14.0737	0.64877	0.0:1.0:0.0:0.0	.	158;1857	B4DU37;Q96L96	.;ALPK3_HUMAN	K	1857	ENSP00000258888:Q1857K	ENSP00000258888:Q1857K	Q	+	1	0	ALPK3	83212536	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	4.333000	0.59285	2.253000	0.74438	0.313000	0.20887	CAG		0.622	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	
PLIN1	5346	hgsc.bcm.edu	37	15	90213377	90213377	+	Silent	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:90213377C>A	ENST00000300055.5	-	5	597	c.432G>T	c.(430-432)ggG>ggT	p.G144G	PLIN1_ENST00000430628.2_Silent_p.G144G	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	144					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CCAAAGCGGCCCCCAGGACCT	0.632																																					p.G144G												.	.	0			c.G432T	15						.						32.0	33.0	33.0					15																	90213377		2200	4299	6499	88014381	SO:0001819	synonymous_variant	5346	exon5			AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.432G>T	15.37:g.90213377C>A		Somatic		Capture	SOLID	Phase_I	88014381	NM_002666	Q8N5Y6	Silent	SNP	ENST00000300055.5	37	CCDS10353.1																																																																																				0.632	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666	
BLM	641	hgsc.bcm.edu	37	15	91308559	91308559	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:91308559C>T	ENST00000355112.3	+	9	2226	c.2108C>T	c.(2107-2109)gCc>gTc	p.A703V	BLM_ENST00000560509.1_Missense_Mutation_p.A703V|BLM_ENST00000560136.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	703	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.A703V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CAGCTCCCTGCCTGTGTTTCT	0.398			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																												p.A703V		yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2108T	15						.						123.0	110.0	115.0					15																	91308559		2198	4298	6496	89109563	SO:0001583	missense	641	exon9	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2108C>T	15.37:g.91308559C>T	ENSP00000347232:p.Ala703Val	Somatic		Capture	SOLID	Phase_I	89109563	NM_000057	Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503866	0.64410	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.12984	2.63	5.6	5.6	0.85130	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.180058	0.48286	D	0.000182	T	0.51787	0.1695	H	0.97291	3.975	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.76575	0.988;0.986;0.988	T	0.67158	-0.5741	10	0.87932	D	0	-5.9096	12.8034	0.57598	0.0:0.8357:0.1642:0.0	.	703;328;703	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	V	703;356	ENSP00000347232:A703V	ENSP00000347232:A703V	A	+	2	0	BLM	89109563	1.000000	0.71417	0.935000	0.37517	0.159000	0.22180	5.825000	0.69286	2.644000	0.89710	0.655000	0.94253	GCC		0.398	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1		
MAN2A2	4122	hgsc.bcm.edu	37	15	91461489	91461489	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:91461489C>T	ENST00000559717.1	+	21	3519	c.3060C>T	c.(3058-3060)aaC>aaT	p.N1020N	MAN2A2_ENST00000430376.2_Silent_p.N210N|MAN2A2_ENST00000360468.3_Silent_p.N1020N|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000431652.2_Silent_p.N528N|AC068831.15_ENST00000560522.1_RNA			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1020					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGTACCTGAACGCCCCGGCGC	0.592																																					p.N1020N												.	.	0			c.C3060T	15						.						132.0	122.0	125.0					15																	91461489		2198	4298	6496	89262493	SO:0001819	synonymous_variant	4122	exon20			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3060C>T	15.37:g.91461489C>T		Somatic		Capture	SOLID	Phase_I	89262493	NM_006122	A6NH12|A8K1E8|Q13754	Silent	SNP	ENST00000559717.1	37	CCDS32332.1																																																																																				0.592	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122	
UNC45A	55898	hgsc.bcm.edu	37	15	91488277	91488277	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:91488277T>A	ENST00000418476.2	+	9	1223	c.1183T>A	c.(1183-1185)Tgt>Agt	p.C395S	UNC45A_ENST00000394275.2_Missense_Mutation_p.C380S	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	395					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCACAGACTTTGTGAAAACTA	0.493																																					p.C380S												.	.	0			c.T1138A	15						.						73.0	72.0	72.0					15																	91488277		2198	4298	6496	89289281	SO:0001583	missense	55898	exon12				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1183T>A	15.37:g.91488277T>A	ENSP00000407487:p.Cys395Ser	Somatic		Capture	SOLID	Phase_I	89289281	NM_001039675	A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.809496	0.90707	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.49432	0.78;0.78	5.71	5.71	0.89125	.	0.043701	0.85682	D	0.000000	T	0.68339	0.2990	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	T	0.71474	-0.4582	10	0.66056	D	0.02	-10.0967	15.6939	0.77477	0.0:0.0:0.0:1.0	.	395;380	Q9H3U1;A8K6F7	UN45A_HUMAN;.	S	380;395	ENSP00000377816:C380S;ENSP00000407487:C395S	ENSP00000377816:C380S	C	+	1	0	UNC45A	89289281	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.968000	0.87980	2.185000	0.69588	0.529000	0.55759	TGT		0.493	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671	
PRC1	9055	hgsc.bcm.edu	37	15	91519980	91519980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:91519980G>A	ENST00000361188.5	-	9	2340	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Nonsense_Mutation_p.R336*|PRC1_ENST00000394249.3_Nonsense_Mutation_p.R377*|Y_RNA_ENST00000363272.1_RNA|PRC1_ENST00000361919.3_Nonsense_Mutation_p.R377*					protein regulator of cytokinesis 1									p.R377*(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TTTGTAAATCGATTTGGATCT	0.373																																					p.R377X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1129T	15						.						123.0	120.0	121.0					15																	91519980		2197	4297	6494	89320984	SO:0001587	stop_gained	9055	exon9			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1129C>T	15.37:g.91519980G>A	ENSP00000354679:p.Arg377*	Somatic		Capture	SOLID	Phase_I	89320984	NM_003981		Nonsense_Mutation	SNP	ENST00000361188.5	37	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	G	49	15.046718	0.99820	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656	.	.	.	5.28	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6762	12.9526	0.58409	0.0:0.0:0.706:0.294	.	.	.	.	X	377;377;377;336	.	ENSP00000354679:R377X	R	-	1	2	PRC1	89320984	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.702000	0.47102	1.452000	0.47756	0.555000	0.69702	CGA		0.373	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981	
ABHD2	11057	hgsc.bcm.edu	37	15	89659748	89659749	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	AA	AA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:89659748_89659749delAA	ENST00000352732.5	+	3	710_711	c.190_191delAA	c.(190-192)aaafs	p.K64fs	ABHD2_ENST00000565973.1_Frame_Shift_Del_p.K64fs|ABHD2_ENST00000355100.3_Frame_Shift_Del_p.K64fs	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	64					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.K64fs*41(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCTTCTGACCAAAGAGTGAGTA	0.515																																					p.64_64del	Colon(11;252 417 24570 33239 41878)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.190_191del	15						.																																			87460753	SO:0001589	frameshift_variant	11057	exon3			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.190_191delAA	15.37:g.89659748_89659749delAA	ENSP00000268129:p.Lys64fs	Somatic		Capture	SOLID	Phase_I	87460752	NM_152924	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Frame_Shift_Del	DEL	ENST00000352732.5	37	CCDS10348.1																																																																																				0.515	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2		
UNC45A	55898	hgsc.bcm.edu	37	15	91488281	91488282	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	AA	AA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:91488281_91488282delAA	ENST00000418476.2	+	9	1227_1228	c.1187_1188delAA	c.(1186-1188)gaafs	p.E396fs	UNC45A_ENST00000394275.2_Frame_Shift_Del_p.E381fs	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	396					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.N397fs*7(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGACTTTGTGAAAACTACATCA	0.485																																					p.381_381del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1142_1143del	15						.																																			89289286	SO:0001589	frameshift_variant	55898	exon12				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1187_1188delAA	15.37:g.91488283_91488284delAA	ENSP00000407487:p.Glu396fs	Somatic		Capture	SOLID	Phase_I	89289285	NM_001039675	A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Frame_Shift_Del	DEL	ENST00000418476.2	37	CCDS10367.1																																																																																				0.485	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671	
SV2B	9899	hgsc.bcm.edu	37	15	91835781	91835781	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr15:91835781G>A	ENST00000394232.1	+	13	2521	c.2051G>A	c.(2050-2052)tGa>tAa	p.*684*	SV2B_ENST00000330276.4_Silent_p.*684*|SV2B_ENST00000545111.2_Silent_p.*533*	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	0					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.*684*(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTCCTGATGTGAACAACCTAT	0.527																																					p.X684X												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2051A	15						.						92.0	88.0	89.0					15																	91835781		2198	4298	6496	89636785	SO:0001819	synonymous_variant	9899	exon14			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.2051G>A	15.37:g.91835781G>A		Somatic		Capture	SOLID	Phase_I	89636785	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																				0.527	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848	
GAR1	54433	hgsc.bcm.edu	37	4	110745180	110745180	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:110745180G>T	ENST00000226796.6	+	6	895	c.631G>T	c.(631-633)Ggt>Tgt	p.G211C	GAR1_ENST00000394631.3_Missense_Mutation_p.G211C	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	211	RGG-box 2.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)	p.G211C(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						AAGAGGTGGTGGTTTCAGAGG	0.323																																					p.G211C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631T	4						.						118.0	139.0	132.0					4																	110745180		2203	4300	6503	110964629	SO:0001583	missense	54433	exon6			AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"""nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)"", ""GAR1 ribonucleoprotein homolog (yeast)"""	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.631G>T	4.37:g.110745180G>T	ENSP00000226796:p.Gly211Cys	Somatic		Capture	SOLID	Phase_I	110964629	NM_032993	Q5MJQ2	Missense_Mutation	SNP	ENST00000226796.6	37	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403822	0.62288	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	T;T	0.47869	0.83;0.83	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.60732	-0.7205	10	0.62326	D	0.03	.	18.6688	0.91502	0.0:0.0:1.0:0.0	.	193;211	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	C	211	ENSP00000378127:G211C;ENSP00000226796:G211C	ENSP00000226796:G211C	G	+	1	0	GAR1	110964629	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.742000	0.68646	2.715000	0.92844	0.591000	0.81541	GGT		0.323	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2		
NEUROG2	63973	hgsc.bcm.edu	37	4	113435915	113435915	+	Silent	SNP	C	C	T	rs200633508		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:113435915C>T	ENST00000313341.3	-	2	1043	c.717G>A	c.(715-717)tcG>tcA	p.S239S	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	239	Ser-rich.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)	p.S239S(1)		central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GGCTGGCGGGCGATAAAGTGC	0.647																																					p.S239S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G717A	4						.						26.0	30.0	29.0					4																	113435915		2203	4300	6503	113655364	SO:0001819	synonymous_variant	63973	exon2			AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.717G>A	4.37:g.113435915C>T		Somatic		Capture	SOLID	Phase_I	113655364	NM_024019	Q8N416	Silent	SNP	ENST00000313341.3	37	CCDS3698.1																																																																																				0.647	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019	
NDST3	9348	hgsc.bcm.edu	37	4	118975094	118975094	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:118975094A>G	ENST00000296499.5	+	2	432	c.29A>G	c.(28-30)cAc>cGc	p.H10R	NDST3_ENST00000433996.2_Missense_Mutation_p.H10R	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	10				HRHFQRTVIL -> STEQLSKEPVISW (in Ref. 2; AAD46061). {ECO:0000305}.	heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.H10R(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTCACAGACACTTTCAAAGA	0.393																																					p.H10R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A29G	4						.						135.0	128.0	130.0					4																	118975094		2203	4300	6503	119194542	SO:0001583	missense	9348	exon2			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.29A>G	4.37:g.118975094A>G	ENSP00000296499:p.His10Arg	Somatic		Capture	SOLID	Phase_I	119194542	NM_004784	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.604179	0.46423	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.42900	1.29;0.96	5.73	5.73	0.89815	.	0.051320	0.85682	D	0.000000	T	0.58438	0.2122	L	0.47716	1.5	0.43381	D	0.995484	B;B;D	0.67145	0.139;0.073;0.996	B;B;D	0.77557	0.058;0.045;0.99	T	0.58381	-0.7646	10	0.51188	T	0.08	.	16.0064	0.80363	1.0:0.0:0.0:0.0	.	10;10;10	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	R	10	ENSP00000296499:H10R;ENSP00000396625:H10R	ENSP00000296499:H10R	H	+	2	0	NDST3	119194542	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.228000	0.58619	2.171000	0.68590	0.528000	0.53228	CAC		0.393	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784	
EXOSC9	5393	hgsc.bcm.edu	37	4	122725909	122725909	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:122725909A>G	ENST00000243498.5	+	5	625	c.517A>G	c.(517-519)Aca>Gca	p.T173A	EXOSC9_ENST00000512454.1_Missense_Mutation_p.T157A|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.T173A	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	173	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T173A(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						AGATGAAGTAACACTGGTAAG	0.408																																					p.T173A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A517G	4						.						103.0	97.0	99.0					4																	122725909		2203	4300	6503	122945359	SO:0001583	missense	5393	exon5			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.517A>G	4.37:g.122725909A>G	ENSP00000243498:p.Thr173Ala	Somatic		Capture	SOLID	Phase_I	122945359	NM_001034194	Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	CCDS3722.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.77|18.77	3.694881|3.694881	0.68386|0.68386	.|.	.|.	ENSG00000123737|ENSG00000123737	ENST00000511132|ENST00000243498;ENST00000379663;ENST00000512454	.|T;T;T	.|0.25749	.|1.79;1.78;1.78	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.043710	.|0.85682	.|D	.|0.000000	T|T	0.27384|0.27384	0.0672|0.0672	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|P;P;B	.|0.39116	.|0.66;0.66;0.097	.|B;B;B	.|0.28553	.|0.091;0.091;0.032	T|T	0.11446|0.11446	-1.0587|-1.0587	5|10	.|0.46703	.|T	.|0.11	-14.9071|-14.9071	15.8401|15.8401	0.78837|0.78837	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|157;173;173	.|D6RIY6;Q06265;Q06265-2	.|.;EXOS9_HUMAN;.	S|A	8|173;173;157	.|ENSP00000243498:T173A;ENSP00000368984:T173A;ENSP00000425782:T157A	.|ENSP00000243498:T173A	N|T	+|+	2|1	0|0	EXOSC9|EXOSC9	122945359|122945359	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.292000|8.292000	0.89930|0.89930	2.207000|2.207000	0.71202|0.71202	0.528000|0.528000	0.53228|0.53228	AAC|ACA		0.408	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033	
ANKRD50	57182	hgsc.bcm.edu	37	4	125591216	125591216	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:125591216G>A	ENST00000504087.1	-	4	4253	c.3216C>T	c.(3214-3216)aaC>aaT	p.N1072N	ANKRD50_ENST00000515641.1_Silent_p.N893N	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1072										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GATCAGCATGGTTTGGATCAG	0.413																																					p.N893N												.	.	0			c.C2679T	4						.						105.0	100.0	101.0					4																	125591216		2203	4300	6503	125810666	SO:0001819	synonymous_variant	57182	exon3			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3216C>T	4.37:g.125591216G>A		Somatic		Capture	SOLID	Phase_I	125810666	NM_001167882	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	CCDS34060.1																																																																																				0.413	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
FAT4	79633	hgsc.bcm.edu	37	4	126372542	126372542	+	Silent	SNP	G	G	A	rs569467294		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:126372542G>A	ENST00000394329.3	+	9	10384	c.10371G>A	c.(10369-10371)ccG>ccA	p.P3457P	FAT4_ENST00000335110.5_Silent_p.P1755P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3457	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P3457P(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTATTAATCCGCAGACAGGAC	0.468													A|||	1	0.000199681	0.0	0.0	5008	,	,		18278	0.0		0.0	False		,,,				2504	0.001				p.P3457P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G10371A	4						.						99.0	101.0	100.0					4																	126372542		2203	4300	6503	126591992	SO:0001819	synonymous_variant	79633	exon9			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10371G>A	4.37:g.126372542G>A		Somatic		Capture	SOLID	Phase_I	126591992	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
BOD1L1	259282	hgsc.bcm.edu	37	4	13601837	13601837	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:13601837A>G	ENST00000040738.5	-	10	6822	c.6687T>C	c.(6685-6687)gcT>gcC	p.A2229A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2229						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A2229A(1)									CGGAAACAGAAGCCTCACATT	0.502																																					p.A2229A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T6687C	4						.						82.0	68.0	73.0					4																	13601837		2203	4300	6503	13210935	SO:0001819	synonymous_variant	259282	exon10			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.6687T>C	4.37:g.13601837A>G		Somatic		Capture	SOLID	Phase_I	13210935	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	CCDS3411.2																																																																																				0.502	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
MFSD8	256471	hgsc.bcm.edu	37	4	128886282	128886282	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:128886282C>A	ENST00000296468.3	-	2	134	c.7G>T	c.(7-9)Ggc>Tgc	p.G3C	C4orf29_ENST00000388795.5_5'Flank|C4orf29_ENST00000444616.1_5'Flank|MFSD8_ENST00000541133.1_Intron|C4orf29_ENST00000398965.1_5'Flank|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Intron	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	3					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.G3C(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TTCCGCAGGCCGGCCATAGTT	0.602																																					p.G3C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7T	4						.						69.0	63.0	65.0					4																	128886282		2203	4300	6503	129105732	SO:0001583	missense	256471	exon2			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.7G>T	4.37:g.128886282C>A	ENSP00000296468:p.Gly3Cys	Somatic		Capture	SOLID	Phase_I	129105732	NM_152778	B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920883	0.33908	.	.	ENSG00000164073	ENST00000296468	D	0.85013	-1.93	4.52	-1.81	0.07882	.	1.362870	0.04137	N	0.318847	T	0.72993	0.3530	N	0.08118	0	0.09310	N	0.999995	P;P	0.45283	0.855;0.855	B;B	0.41946	0.26;0.371	T	0.66352	-0.5945	10	0.72032	D	0.01	0.172	9.277	0.37705	0.0:0.5884:0.0:0.4116	.	3;3	B7Z280;Q8NHS3	.;MFSD8_HUMAN	C	3	ENSP00000296468:G3C	ENSP00000296468:G3C	G	-	1	0	MFSD8	129105732	0.004000	0.15560	0.001000	0.08648	0.000000	0.00434	0.306000	0.19279	-0.182000	0.10602	-0.367000	0.07326	GGC		0.602	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778	
PCDH10	57575	hgsc.bcm.edu	37	4	134071714	134071714	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:134071714G>A	ENST00000264360.5	+	1	1245	c.419G>A	c.(418-420)cGc>cAc	p.R140H	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	140	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R140H(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCAGGCACTCGCTTCCCCTTG	0.607																																					p.R140H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G419A	4						.						57.0	60.0	59.0					4																	134071714		2203	4300	6503	134291164	SO:0001583	missense	57575	exon1			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.419G>A	4.37:g.134071714G>A	ENSP00000264360:p.Arg140His	Somatic		Capture	SOLID	Phase_I	134291164	NM_032961	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444047	0.83993	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.20738	2.05	4.78	4.78	0.61160	Cadherin (2);Cadherin-like (1);	0.000000	0.45361	D	0.000378	T	0.54415	0.1857	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.64694	-0.6347	10	0.87932	D	0	.	17.5675	0.87924	0.0:0.0:1.0:0.0	.	140;140	Q9P2E7;Q96SF0	PCD10_HUMAN;.	H	140	ENSP00000264360:R140H	ENSP00000264360:R140H	R	+	2	0	PCDH10	134291164	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.657000	0.98554	2.467000	0.83353	0.555000	0.69702	CGC		0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
PCDH10	57575	hgsc.bcm.edu	37	4	134072724	134072724	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:134072724G>A	ENST00000264360.5	+	1	2255	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	477	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V477M(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGAAAACAACGTGCCTGGCGC	0.597																																					p.V477M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1429A	4						.						81.0	78.0	79.0					4																	134072724		2203	4300	6503	134292174	SO:0001583	missense	57575	exon1			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1429G>A	4.37:g.134072724G>A	ENSP00000264360:p.Val477Met	Somatic		Capture	SOLID	Phase_I	134292174	NM_032961	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338613	0.60963	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52983	0.64	4.71	4.71	0.59529	Cadherin (3);Cadherin-like (1);	0.000000	0.40818	N	0.001004	T	0.65396	0.2687	L	0.59436	1.845	0.54753	D	0.999987	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.931	T	0.67019	-0.5776	10	0.54805	T	0.06	.	16.6083	0.84837	0.0:0.0:1.0:0.0	.	477;477	Q9P2E7;Q96SF0	PCD10_HUMAN;.	M	477	ENSP00000264360:V477M	ENSP00000264360:V477M	V	+	1	0	PCDH10	134292174	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.821000	0.86641	2.436000	0.82500	0.655000	0.94253	GTG		0.597	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
PCDH10	57575	hgsc.bcm.edu	37	4	134073704	134073704	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:134073704G>T	ENST00000264360.5	+	1	3235	c.2409G>T	c.(2407-2409)ccG>ccT	p.P803P		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	803					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P803P(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCAGGTGCCGATAGAGGAGT	0.592																																					p.P803P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2409T	4						.						54.0	50.0	51.0					4																	134073704		2203	4300	6503	134293154	SO:0001819	synonymous_variant	57575	exon1			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2409G>T	4.37:g.134073704G>T		Somatic		Capture	SOLID	Phase_I	134293154	NM_032961	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	CCDS34063.1																																																																																				0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
PCDH18	54510	hgsc.bcm.edu	37	4	138442769	138442769	+	Missense_Mutation	SNP	G	G	A	rs144573383		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:138442769G>A	ENST00000344876.4	-	4	3208	c.2822C>T	c.(2821-2823)tCt>tTt	p.S941F	PCDH18_ENST00000510305.1_Missense_Mutation_p.S152F|PCDH18_ENST00000412923.2_Missense_Mutation_p.S940F|PCDH18_ENST00000511115.1_Missense_Mutation_p.S121F|PCDH18_ENST00000507846.1_Missense_Mutation_p.S720F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	941	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S941F(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCTATAATCAGAAGACGGTGA	0.537																																					p.S941F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2822T	4						.	G	PHE/SER	1,4405	2.1+/-5.4	0,1,2202	152.0	150.0	150.0		2822	5.1	1.0	4	dbSNP_134	150	0,8600		0,0,4300	no	missense	PCDH18	NM_019035.3	155	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	941/1136	138442769	1,13005	2203	4300	6503	138662219	SO:0001583	missense	54510	exon4			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2822C>T	4.37:g.138442769G>A	ENSP00000355082:p.Ser941Phe	Somatic		Capture	SOLID	Phase_I	138662219	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989776	0.54041	2.27E-4	0.0	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.55930	0.59;0.59;0.49;1.39;1.38	5.06	5.06	0.68205	.	0.000000	0.42682	D	0.000666	T	0.71195	0.3311	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	D;P;D;P	0.69479	0.958;0.832;0.964;0.832	T	0.74973	-0.3481	10	0.87932	D	0	.	18.4681	0.90762	0.0:0.0:1.0:0.0	.	121;720;940;941	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	F	941;940;720;152;121	ENSP00000355082:S941F;ENSP00000390688:S940F;ENSP00000425903:S720F;ENSP00000424269:S152F;ENSP00000425647:S121F	ENSP00000355082:S941F	S	-	2	0	PCDH18	138662219	1.000000	0.71417	0.977000	0.42913	0.248000	0.25809	8.722000	0.91452	2.366000	0.80165	0.655000	0.94253	TCT		0.537	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
PCDH18	54510	hgsc.bcm.edu	37	4	138451055	138451055	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:138451055C>T	ENST00000344876.4	-	1	2574	c.2188G>A	c.(2188-2190)Gac>Aac	p.D730N	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D730N|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.D510N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	730					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D730N(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GATCTAGTGTCTTTCTTCTCG	0.458																																					p.D730N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2188A	4						.						162.0	139.0	147.0					4																	138451055		2203	4300	6503	138670505	SO:0001583	missense	54510	exon1			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2188G>A	4.37:g.138451055C>T	ENSP00000355082:p.Asp730Asn	Somatic		Capture	SOLID	Phase_I	138670505	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552677	0.65425	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55234	0.63;0.64;0.53	5.53	5.53	0.82687	.	0.000000	0.45606	D	0.000344	T	0.73241	0.3562	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.986;0.996	T	0.72304	-0.4333	10	0.51188	T	0.08	.	19.663	0.95879	0.0:1.0:0.0:0.0	.	510;730;730	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	N	730;730;510	ENSP00000355082:D730N;ENSP00000390688:D730N;ENSP00000425903:D510N	ENSP00000355082:D730N	D	-	1	0	PCDH18	138670505	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.560000	0.67332	2.871000	0.98454	0.655000	0.94253	GAC		0.458	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
OTUD4	54726	hgsc.bcm.edu	37	4	146076741	146076741	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:146076741A>T	ENST00000447906.2	-	9	975	c.788T>A	c.(787-789)aTt>aAt	p.I263N	OTUD4_ENST00000454497.2_Missense_Mutation_p.I198N|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	263					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.I197N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTTCAGCCAAATTTCATATTC	0.348																																					p.I198N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T593A	4						.						100.0	100.0	100.0					4																	146076741		2203	4300	6503	146296191	SO:0001583	missense	54726	exon9				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.788T>A	4.37:g.146076741A>T	ENSP00000395487:p.Ile263Asn	Somatic		Capture	SOLID	Phase_I	146296191	NM_001102653	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	A	15.92	2.976427	0.53720	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973	T;T;T	0.35048	1.33;1.35;1.35	5.23	5.23	0.72850	.	0.390775	0.25073	N	0.033344	T	0.40272	0.1110	L	0.48362	1.52	0.80722	D	1	D;P	0.56521	0.976;0.914	P;B	0.49887	0.625;0.443	T	0.32981	-0.9886	10	0.72032	D	0.01	-8.1206	11.2126	0.48808	0.8627:0.0:0.0:0.1373	.	263;262	G3V0I6;Q01804	.;OTUD4_HUMAN	N	198;263;197	ENSP00000409279:I198N;ENSP00000395487:I263N;ENSP00000425972:I197N	ENSP00000395487:I263N	I	-	2	0	OTUD4	146296191	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.117000	0.64667	2.101000	0.63845	0.459000	0.35465	ATT		0.348	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	
ZNF827	152485	hgsc.bcm.edu	37	4	146686151	146686151	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:146686151G>A	ENST00000508784.1	-	13	3446	c.3219C>T	c.(3217-3219)acC>acT	p.T1073T	ZNF827_ENST00000379448.4_Silent_p.T1073T|ZNF827_ENST00000513320.1_Silent_p.T723T			Q17R98	ZN827_HUMAN	zinc finger protein 827	1073					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T1073T(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGAGCCCACCGGTGGGGACAG	0.502																																					p.T1073T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3219T	4						.						125.0	124.0	124.0					4																	146686151		2203	4300	6503	146905601	SO:0001819	synonymous_variant	152485	exon13			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.3219C>T	4.37:g.146686151G>A		Somatic		Capture	SOLID	Phase_I	146905601	NM_178835	B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37		.	.	.	.	.	.	.	.	.	.	G	8.969	0.972469	0.18736	.	.	ENSG00000151612	ENST00000511659	.	.	.	4.83	3.06	0.35304	.	.	.	.	.	T	0.60843	0.2300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58387	-0.7645	4	.	.	.	-15.826	11.258	0.49065	0.2154:0.0:0.7846:0.0	.	.	.	.	L	174	.	.	P	-	2	0	ZNF827	146905601	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	0.896000	0.28377	1.143000	0.42306	0.655000	0.94253	CCG		0.502	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835	
LRBA	987	hgsc.bcm.edu	37	4	151765860	151765860	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:151765860C>T	ENST00000357115.3	-	27	4654	c.4411G>A	c.(4411-4413)Gcc>Acc	p.A1471T	LRBA_ENST00000535741.1_Missense_Mutation_p.A1471T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1471T|LRBA_ENST00000510413.1_Missense_Mutation_p.A1471T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1471						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A1471T(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGTTTCAAGGCTTTATCTCCC	0.358																																					p.A1471T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4411A	4						.						120.0	113.0	115.0					4																	151765860		2203	4300	6503	151985310	SO:0001583	missense	987	exon27			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4411G>A	4.37:g.151765860C>T	ENSP00000349629:p.Ala1471Thr	Somatic		Capture	SOLID	Phase_I	151985310	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	4.357	0.065807	0.08388	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224;ENST00000502839	T;T;T;T	0.55052	0.95;1.1;0.95;0.54	5.0	3.24	0.37175	.	1.048240	0.07398	N	0.890289	T	0.35393	0.0930	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30534	-0.9975	10	0.11182	T	0.66	.	3.662	0.08242	0.1662:0.4778:0.0:0.356	.	1471;1471	P50851;P50851-2	LRBA_HUMAN;.	T	1471;1471;1471;1471;48	ENSP00000446299:A1471T;ENSP00000421552:A1471T;ENSP00000349629:A1471T;ENSP00000422180:A1471T	ENSP00000349629:A1471T	A	-	1	0	LRBA	151985310	0.013000	0.17824	0.049000	0.19019	0.471000	0.32888	0.225000	0.17757	0.603000	0.29913	0.650000	0.86243	GCC		0.358	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
LRBA	987	hgsc.bcm.edu	37	4	151842402	151842402	+	Missense_Mutation	SNP	G	G	T	rs201464189		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:151842402G>T	ENST00000357115.3	-	5	836	c.593C>A	c.(592-594)cCt>cAt	p.P198H	LRBA_ENST00000535741.1_Missense_Mutation_p.P198H|LRBA_ENST00000507224.1_Missense_Mutation_p.P198H|LRBA_ENST00000510413.1_Missense_Mutation_p.P198H	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	198						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P198H(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATACTTCTGAGGCATATGCTT	0.358																																					p.P198H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C593A	4						.						141.0	137.0	138.0					4																	151842402		2203	4300	6503	152061852	SO:0001583	missense	987	exon5			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.593C>A	4.37:g.151842402G>T	ENSP00000349629:p.Pro198His	Somatic		Capture	SOLID	Phase_I	152061852	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728612	0.89390	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);	0.155488	0.43747	D	0.000539	T	0.79885	0.4523	M	0.75777	2.31	0.58432	D	0.999998	D;D;D	0.89917	0.998;1.0;0.999	P;D;D	0.81914	0.87;0.995;0.939	T	0.81924	-0.0710	10	0.72032	D	0.01	.	19.0424	0.93006	0.0:0.0:1.0:0.0	.	198;198;198	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	H	198	ENSP00000446299:P198H;ENSP00000421552:P198H;ENSP00000349629:P198H;ENSP00000422180:P198H	ENSP00000349629:P198H	P	-	2	0	LRBA	152061852	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.420000	0.97426	2.569000	0.86673	0.650000	0.86243	CCT		0.358	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
FBXW7	55294	hgsc.bcm.edu	37	4	153268096	153268096	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:153268096G>T	ENST00000281708.4	-	4	1941	c.712C>A	c.(712-714)Cta>Ata	p.L238I	FBXW7_ENST00000393956.3_Missense_Mutation_p.L62I|FBXW7_ENST00000603841.1_Missense_Mutation_p.L238I|FBXW7_ENST00000263981.5_Missense_Mutation_p.L158I|FBXW7_ENST00000296555.5_Missense_Mutation_p.L120I|FBXW7_ENST00000603548.1_Missense_Mutation_p.L238I	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	238					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AACATTTTTAGCCATTCCTGG	0.433			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.L158I			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	.	.	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.C472A	4						.						181.0	171.0	174.0					4																	153268096		2203	4300	6503	153487546	SO:0001583	missense	55294	exon3			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.712C>A	4.37:g.153268096G>T	ENSP00000281708:p.Leu238Ile	Somatic		Capture	SOLID	Phase_I	153487546	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246219	0.59103	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.57595	0.39;0.47;0.43;0.66	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	L	0.50333	1.59	0.80722	D	1	B;B;B;B	0.32939	0.025;0.391;0.354;0.354	B;B;B;B	0.31946	0.026;0.138;0.097;0.097	T	0.40496	-0.9560	10	0.23302	T	0.38	-10.2749	20.1162	0.97934	0.0:0.0:1.0:0.0	.	62;238;120;158	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	I	238;120;158;62	ENSP00000281708:L238I;ENSP00000296555:L120I;ENSP00000263981:L158I;ENSP00000377528:L62I	ENSP00000263981:L158I	L	-	1	2	FBXW7	153487546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.659000	0.83766	2.757000	0.94681	0.563000	0.77884	CTA		0.433	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
TIGD4	201798	hgsc.bcm.edu	37	4	153690848	153690848	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:153690848C>T	ENST00000304337.2	-	2	2129	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	437						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D437N(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CATATGGAATCACCATTTGGT	0.428																																					p.D437N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1309A	4						.						102.0	86.0	91.0					4																	153690848		2203	4300	6503	153910298	SO:0001583	missense	201798	exon2			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.1309G>A	4.37:g.153690848C>T	ENSP00000355162:p.Asp437Asn	Somatic		Capture	SOLID	Phase_I	153910298	NM_145720	Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	3.238	-0.156027	0.06544	.	.	ENSG00000169989	ENST00000304337	T	0.17691	2.26	6.17	4.47	0.54385	Centromere protein Cenp-B, dimerisation domain (1);	0.811237	0.10902	N	0.621493	T	0.12689	0.0308	L	0.27053	0.805	0.09310	N	1	B	0.20671	0.047	B	0.21708	0.036	T	0.33574	-0.9863	10	0.27082	T	0.32	-1.6553	8.204	0.31441	0.0:0.7341:0.1293:0.1365	.	437	Q8IY51	TIGD4_HUMAN	N	437	ENSP00000355162:D437N	ENSP00000355162:D437N	D	-	1	0	TIGD4	153910298	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	1.463000	0.35277	0.955000	0.37878	-0.136000	0.14681	GAT		0.428	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720	
TKTL2	84076	hgsc.bcm.edu	37	4	164393599	164393599	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:164393599C>T	ENST00000280605.3	-	1	1448	c.1288G>A	c.(1288-1290)Gtc>Atc	p.V430I		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	430						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.V430I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATCTGGGAGACTCCATCTTCT	0.468																																					p.V430I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1288A	4						.						59.0	59.0	59.0					4																	164393599		2203	4300	6503	164613049	SO:0001583	missense	84076	exon1			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1288G>A	4.37:g.164393599C>T	ENSP00000280605:p.Val430Ile	Somatic		Capture	SOLID	Phase_I	164613049	NM_032136	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	6.263	0.416576	0.11870	.	.	ENSG00000151005	ENST00000280605	D	0.91295	-2.82	3.95	0.338	0.15974	Transketolase-like, pyrimidine-binding domain (2);	0.334449	0.31461	N	0.007608	D	0.82939	0.5146	N	0.19112	0.55	0.09310	N	1	B	0.27264	0.173	B	0.38156	0.266	T	0.74456	-0.3659	10	0.87932	D	0	-0.2839	5.1226	0.14867	0.2795:0.1559:0.5647:0.0	.	430	Q9H0I9	TKTL2_HUMAN	I	430	ENSP00000280605:V430I	ENSP00000280605:V430I	V	-	1	0	TKTL2	164613049	1.000000	0.71417	0.026000	0.17262	0.006000	0.05464	5.168000	0.64978	0.015000	0.14971	-0.758000	0.03466	GTC		0.468	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136	
DDX60	55601	hgsc.bcm.edu	37	4	169189110	169189110	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:169189110G>T	ENST00000393743.3	-	21	3102	c.2811C>A	c.(2809-2811)taC>taA	p.Y937*		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	937	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.Y937*(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CTTGTTTCCAGTACCATTTTA	0.343																																					p.Y937X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2811A	4						.						108.0	112.0	110.0					4																	169189110		2203	4300	6503	169425685	SO:0001587	stop_gained	55601	exon21			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2811C>A	4.37:g.169189110G>T	ENSP00000377344:p.Tyr937*	Somatic		Capture	SOLID	Phase_I	169425685	NM_017631	Q6PK35|Q9NVE3	Nonsense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916853	0.52546	.	.	ENSG00000137628	ENST00000393743;ENST00000537338	.	.	.	5.0	4.16	0.48862	.	0.113545	0.39687	N	0.001286	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6628	0.39965	0.1715:0.0:0.8285:0.0	.	.	.	.	X	937;29	.	ENSP00000377344:Y937X	Y	-	3	2	DDX60	169425685	1.000000	0.71417	0.994000	0.49952	0.250000	0.25880	2.569000	0.45973	1.240000	0.43803	0.563000	0.77884	TAC		0.343	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	
DCTD	1635	hgsc.bcm.edu	37	4	183836646	183836646	+	Missense_Mutation	SNP	A	A	T	rs373876391		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:183836646A>T	ENST00000438320.2	-	2	366	c.76T>A	c.(76-78)Tca>Aca	p.S26T	DCTD_ENST00000513383.1_5'UTR|DCTD_ENST00000510370.1_Missense_Mutation_p.S26T|DCTD_ENST00000357067.3_Missense_Mutation_p.S37T	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	26					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)	p.S26T(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	CTCTGTGCTGATAAGAAGGCC	0.423																																					p.S26T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T76A	4						.						118.0	129.0	126.0					4																	183836646		2203	4300	6503	184073640	SO:0001583	missense	1635	exon2			L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.76T>A	4.37:g.183836646A>T	ENSP00000398194:p.Ser26Thr	Somatic		Capture	SOLID	Phase_I	184073640	NM_001921	B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Missense_Mutation	SNP	ENST00000438320.2	37	CCDS3831.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.887706	0.52014	.	.	ENSG00000129187	ENST00000357067;ENST00000438320;ENST00000510370;ENST00000503182;ENST00000510307;ENST00000512766;ENST00000514754;ENST00000503820;ENST00000503988	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	4.7	3.49	0.39957	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.137086	0.52532	D	0.000080	T	0.38161	0.1030	L	0.52823	1.66	0.80722	D	1	B;B	0.14805	0.011;0.002	B;B	0.18263	0.012;0.021	T	0.28170	-1.0052	10	0.59425	D	0.04	-22.6521	10.8498	0.46763	0.6975:0.3025:0.0:0.0	.	37;26	P32321-2;P32321	.;DCTD_HUMAN	T	37;26;26;26;26;26;26;26;26	ENSP00000349576:S37T;ENSP00000398194:S26T;ENSP00000424017:S26T;ENSP00000422662:S26T;ENSP00000424050:S26T;ENSP00000423182:S26T;ENSP00000423894:S26T;ENSP00000421792:S26T;ENSP00000422729:S26T	ENSP00000349576:S37T	S	-	1	0	DCTD	184073640	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	5.543000	0.67225	0.906000	0.36621	0.533000	0.62120	TCA		0.423	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361743.2		
TRAPPC11	60684	hgsc.bcm.edu	37	4	184628024	184628024	+	Silent	SNP	C	C	T	rs537217298		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:184628024C>T	ENST00000334690.6	+	28	3322	c.3120C>T	c.(3118-3120)acC>acT	p.T1040T	TRAPPC11_ENST00000357207.4_Silent_p.T1040T|RNU6-1053P_ENST00000515930.1_RNA|TRAPPC11_ENST00000512476.1_Silent_p.T646T	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	1040					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.T1040T(2)									AGAATAAGACCGACTTAGTTC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		18524	0.0		0.0	False		,,,				2504	0.001				p.T1040T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3120T	4						.						136.0	121.0	126.0					4																	184628024		2203	4300	6503	184865018	SO:0001819	synonymous_variant	60684	exon28				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.3120C>T	4.37:g.184628024C>T		Somatic		Capture	SOLID	Phase_I	184865018	NM_199053	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	CCDS34112.1																																																																																				0.428	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942	
WHSC1	7468	hgsc.bcm.edu	37	4	1920067	1920067	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:1920067C>A	ENST00000382895.3	+	7	1558	c.1127C>A	c.(1126-1128)tCc>tAc	p.S376Y	WHSC1_ENST00000398261.1_Missense_Mutation_p.S376Y|WHSC1_ENST00000503128.1_Missense_Mutation_p.S376Y|WHSC1_ENST00000382891.5_Missense_Mutation_p.S376Y|WHSC1_ENST00000382892.2_Missense_Mutation_p.S376Y|WHSC1_ENST00000514045.1_Missense_Mutation_p.S376Y|WHSC1_ENST00000508803.1_Missense_Mutation_p.S376Y|WHSC1_ENST00000420906.2_Missense_Mutation_p.S376Y	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	376					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.S376Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ATGGCAGAATCCTCAGGAGTC	0.512			T	IGH@	MM																																p.S376Y			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1127A	4						.						73.0	74.0	74.0					4																	1920067		2203	4300	6503	1889865	SO:0001583	missense	7468	exon6			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1127C>A	4.37:g.1920067C>A	ENSP00000372351:p.Ser376Tyr	Somatic		Capture	SOLID	Phase_I	1889865	NM_133331	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579125	0.46006	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;D;D;T;D;T;T;T	0.95377	-3.69;1.08;-3.69;-3.69;1.08;-3.69;1.07;1.01;1.07	4.93	4.06	0.47325	.	0.992469	0.08182	N	0.985249	D	0.95370	0.8497	L	0.43152	1.355	0.27040	N	0.964029	P;P;P;P	0.52692	0.955;0.94;0.955;0.955	P;B;P;P	0.54312	0.748;0.44;0.748;0.748	D	0.88038	0.2779	10	0.66056	D	0.02	.	10.1786	0.42955	0.0:0.9021:0.0:0.0979	.	376;376;376;376	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	Y	376	ENSP00000423972:S376Y;ENSP00000421681:S376Y;ENSP00000372347:S376Y;ENSP00000372348:S376Y;ENSP00000399251:S376Y;ENSP00000372351:S376Y;ENSP00000425761:S376Y;ENSP00000422878:S376Y;ENSP00000381311:S376Y	ENSP00000308780:S376Y	S	+	2	0	WHSC1	1889865	0.001000	0.12720	0.001000	0.08648	0.036000	0.12997	1.510000	0.35790	1.113000	0.41760	0.555000	0.69702	TCC		0.512	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330	
KLKB1	3818	hgsc.bcm.edu	37	4	187179260	187179260	+	Missense_Mutation	SNP	G	G	A	rs138872241		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:187179260G>A	ENST00000264690.6	+	15	1998	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	KLKB1_ENST00000513864.1_3'UTR	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	604	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.R604H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGCTGTGCCCGCAGGGAGCAA	0.517													.|||	1	0.000199681	0.0	0.0	5008	,	,		19765	0.001		0.0	False		,,,				2504	0.0				p.R604H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1811A	4						.						95.0	88.0	90.0					4																	187179260		2203	4300	6503	187416254	SO:0001583	missense	3818	exon15			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1811G>A	4.37:g.187179260G>A	ENSP00000264690:p.Arg604His	Somatic		Capture	SOLID	Phase_I	187416254	NM_000892	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	CCDS34120.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	15.42|15.42	2.828549|2.828549	0.50845|0.50845	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690	.|D	.|0.89123	.|-2.47	5.93|5.93	2.78|2.78	0.32641|0.32641	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.425465	.|0.24307	.|N	.|0.039665	D|D	0.90205|0.90205	0.6938|0.6938	L|L	0.57130|0.57130	1.785|1.785	0.19300|0.19300	N|N	0.999973|0.999973	.|P;D	.|0.76494	.|0.548;0.999	.|B;P	.|0.58620	.|0.205;0.842	T|T	0.82281|0.82281	-0.0535|-0.0535	5|10	.|0.62326	.|D	.|0.03	.|.	8.6507|8.6507	0.34033|0.34033	0.069:0.1139:0.6998:0.1173|0.069:0.1139:0.6998:0.1173	.|.	.|604;604	.|A8K9A9;P03952	.|.;KLKB1_HUMAN	T|H	652|604	.|ENSP00000264690:R604H	.|ENSP00000264690:R604H	A|R	+|+	1|2	0|0	KLKB1|KLKB1	187416254|187416254	0.007000|0.007000	0.16637|0.16637	0.926000|0.926000	0.36857|0.36857	0.990000|0.990000	0.78478|0.78478	1.452000|1.452000	0.35156|0.35156	0.795000|0.795000	0.33922|0.33922	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.517	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	
FAM193A	8603	hgsc.bcm.edu	37	4	2696715	2696715	+	Silent	SNP	C	C	T	rs146560056	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:2696715C>T	ENST00000324666.5	+	15	2613	c.2262C>T	c.(2260-2262)taC>taT	p.Y754Y	FAM193A_ENST00000382839.3_Silent_p.Y754Y|FAM193A_ENST00000545951.1_Silent_p.Y754Y|FAM193A_ENST00000502458.1_Silent_p.Y776Y|FAM193A_ENST00000505311.1_Silent_p.Y754Y	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	754								p.Y754Y(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATGGTGTCTACGACCCACAGC	0.597													C|||	6	0.00119808	0.0008	0.0	5008	,	,		19803	0.0		0.0	False		,,,				2504	0.0051				p.Y754Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2262T	4						.	C		0,4406		0,0,2203	72.0	53.0	60.0		2262	-10.7	0.0	4	dbSNP_134	60	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	FAM193A	NM_003704.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		754/1225	2696715	3,13003	2203	4300	6503	2666513	SO:0001819	synonymous_variant	8603	exon15			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2262C>T	4.37:g.2696715C>T		Somatic		Capture	SOLID	Phase_I	2666513	NM_003704	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	ENST00000324666.5	37	CCDS58875.1																																																																																				0.597	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704	
NOP14	8602	hgsc.bcm.edu	37	4	2955256	2955256	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:2955256G>A	ENST00000314262.6	-	5	777	c.729C>T	c.(727-729)gaC>gaT	p.D243D	NOP14_ENST00000416614.2_Silent_p.D243D|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Silent_p.D243D|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Silent_p.D243D	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	243					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.D243D(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TTTCCTTTTTGTCTCTGTTCT	0.498																																					p.D243D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C729T	4						.						225.0	206.0	212.0					4																	2955256		2203	4300	6503	2925054	SO:0001819	synonymous_variant	8602	exon5			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.729C>T	4.37:g.2955256G>A		Somatic		Capture	SOLID	Phase_I	2925054	NM_003703	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	37	CCDS33945.1																																																																																				0.498	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703	
RGS12	6002	hgsc.bcm.edu	37	4	3318056	3318056	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:3318056G>T	ENST00000344733.5	+	2	1063	c.159G>T	c.(157-159)gcG>gcT	p.A53A	RGS12_ENST00000382788.3_Silent_p.A53A|RGS12_ENST00000543385.1_Silent_p.A53A|RGS12_ENST00000336727.3_Silent_p.A53A	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	53	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.A53A(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGAGCCCTGCGGATTTCGTGG	0.547																																					p.A53A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G159T	4						.						56.0	55.0	56.0					4																	3318056		2203	4300	6503	3287854	SO:0001819	synonymous_variant	6002	exon2			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.159G>T	4.37:g.3318056G>T		Somatic		Capture	SOLID	Phase_I	3287854	NM_002926	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	CCDS3366.1																																																																																				0.547	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	
LYAR	55646	hgsc.bcm.edu	37	4	4276228	4276228	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:4276228G>A	ENST00000343470.4	-	7	938	c.698C>T	c.(697-699)gCt>gTt	p.A233V	LYAR_ENST00000452476.1_Missense_Mutation_p.A233V	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	233	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A233V(1)		endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTCCCCACCAGCCTCAAGGTC	0.512																																					p.A233V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C698T	4						.						251.0	244.0	246.0					4																	4276228		2203	4300	6503	4327129	SO:0001583	missense	55646	exon7			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.698C>T	4.37:g.4276228G>A	ENSP00000345917:p.Ala233Val	Somatic		Capture	SOLID	Phase_I	4327129	NM_001145725	D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	ENST00000343470.4	37	CCDS3374.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408026	0.62399	.	.	ENSG00000145220	ENST00000343470;ENST00000452476	T;T	0.32023	1.47;1.47	5.13	4.27	0.50696	.	0.438058	0.24424	N	0.038655	T	0.31420	0.0796	N	0.08118	0	0.33941	D	0.643189	D	0.89917	1.0	D	0.68765	0.96	T	0.44345	-0.9334	10	0.30078	T	0.28	-12.8406	12.3896	0.55350	0.0:0.0:0.8313:0.1687	.	233	Q9NX58	LYAR_HUMAN	V	233	ENSP00000345917:A233V;ENSP00000397367:A233V	ENSP00000345917:A233V	A	-	2	0	LYAR	4327129	0.669000	0.27502	0.119000	0.21687	0.226000	0.24999	2.994000	0.49433	1.260000	0.44134	0.561000	0.74099	GCT		0.512	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816	
CRMP1	1400	hgsc.bcm.edu	37	4	5827283	5827283	+	Missense_Mutation	SNP	G	G	A	rs187171314		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:5827283G>A	ENST00000397890.2	-	13	1779	c.1565C>T	c.(1564-1566)tCg>tTg	p.S522L	CRMP1_ENST00000512574.1_Missense_Mutation_p.S520L|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.S636L|EVC_ENST00000382674.2_Intron	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	522					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.S636L(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TTTAGAAGGCGAAGATTTGGC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		20224	0.0		0.001	False		,,,				2504	0.0				p.S522L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1565T	4						.						202.0	193.0	196.0					4																	5827283		2203	4300	6503	5878184	SO:0001583	missense	1400	exon13			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1565C>T	4.37:g.5827283G>A	ENSP00000380987:p.Ser522Leu	Somatic		Capture	SOLID	Phase_I	5878184	NM_001313	A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	CCDS43207.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.2	4.806469	0.90623	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.85702	-2.02;-1.98;-1.98	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.91901	0.7436	M	0.78916	2.43	0.80722	D	1	D;P;P;D	0.89917	0.999;0.892;0.801;1.0	D;B;B;D	0.87578	0.93;0.217;0.296;0.998	D	0.92830	0.6279	10	0.62326	D	0.03	-18.2589	15.9371	0.79720	0.0:0.0:1.0:0.0	.	636;520;522;459	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	L	636;522;522;520	ENSP00000321606:S636L;ENSP00000380987:S522L;ENSP00000425742:S520L	ENSP00000321606:S636L	S	-	2	0	CRMP1	5878184	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.231000	0.95317	2.313000	0.78055	0.561000	0.74099	TCG		0.532	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313	
SH3TC1	54436	hgsc.bcm.edu	37	4	8242611	8242611	+	Missense_Mutation	SNP	C	C	T	rs201427300	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:8242611C>T	ENST00000245105.3	+	18	4007	c.3940C>T	c.(3940-3942)Cgc>Tgc	p.R1314C	SH3TC1_ENST00000539824.1_Missense_Mutation_p.R1238C	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1314								p.R1314C(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCTCAACGTCCGCAGGGTCAA	0.632													C|||	3	0.000599042	0.0	0.0029	5008	,	,		13485	0.0		0.0	False		,,,				2504	0.001				p.R1314C	NSCLC(145;2298 2623 35616 37297)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3940T	4						.						58.0	60.0	59.0					4																	8242611		2203	4300	6503	8293511	SO:0001583	missense	54436	exon18			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3940C>T	4.37:g.8242611C>T	ENSP00000245105:p.Arg1314Cys	Somatic		Capture	SOLID	Phase_I	8293511	NM_018986	Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	CCDS3399.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	16.80	3.222802	0.58668	.	.	ENSG00000125089	ENST00000245105;ENST00000539824	T;T	0.81078	-1.45;-1.44	4.04	4.04	0.47022	.	0.152822	0.41712	D	0.000828	D	0.84302	0.5442	M	0.72479	2.2	0.34902	D	0.746565	D	0.89917	1.0	D	0.91635	0.999	D	0.90218	0.4269	10	0.72032	D	0.01	-33.2165	12.5847	0.56410	0.1776:0.8224:0.0:0.0	.	1314	Q8TE82	S3TC1_HUMAN	C	1314;1238	ENSP00000245105:R1314C;ENSP00000441045:R1238C	ENSP00000245105:R1314C	R	+	1	0	SH3TC1	8293511	1.000000	0.71417	0.024000	0.17045	0.024000	0.10985	2.636000	0.46545	2.105000	0.64084	0.543000	0.68304	CGC		0.632	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986	
PI4K2B	55300	hgsc.bcm.edu	37	4	25278772	25278772	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:25278772C>T	ENST00000264864.6	+	10	1598	c.1409C>T	c.(1408-1410)aCt>aTt	p.T470I	PI4K2B_ENST00000512921.1_Missense_Mutation_p.T374I	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	470					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.T470I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TTTACCCAGACTGTCAATTGC	0.403																																					p.T470I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1409T	4						.						93.0	89.0	90.0					4																	25278772		2203	4300	6503	24887870	SO:0001583	missense	55300	exon10			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.1409C>T	4.37:g.25278772C>T	ENSP00000264864:p.Thr470Ile	Somatic		Capture	SOLID	Phase_I	24887870	NM_018323	Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057473	0.55325	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	T	0.45668	0.89	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	M	0.75447	2.3	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.62709	-0.6797	10	0.46703	T	0.11	-20.1439	20.8598	0.99761	0.0:1.0:0.0:0.0	.	470	Q8TCG2	P4K2B_HUMAN	I	374;470;439	ENSP00000264864:T470I	ENSP00000264864:T470I	T	+	2	0	PI4K2B	24887870	0.999000	0.42202	0.973000	0.42090	0.548000	0.35241	4.015000	0.57152	2.937000	0.99478	0.650000	0.86243	ACT		0.403	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323	
ARAP2	116984	hgsc.bcm.edu	37	4	36230939	36230939	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:36230939C>T	ENST00000303965.4	-	2	659	c.170G>A	c.(169-171)cGt>cAt	p.R57H		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	57	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.R57H(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TATCCTCCTACGGTGACCTGT	0.368																																					p.R57H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G170A	4						.						70.0	70.0	70.0					4																	36230939		2203	4300	6503	35907334	SO:0001583	missense	116984	exon2			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.170G>A	4.37:g.36230939C>T	ENSP00000302895:p.Arg57His	Somatic		Capture	SOLID	Phase_I	35907334	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951550	0.73787	.	.	ENSG00000047365	ENST00000303965	D	0.84800	-1.9	5.8	4.96	0.65561	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.294188	0.31821	N	0.007020	D	0.91556	0.7333	M	0.74467	2.265	0.41092	D	0.9856	D	0.76494	0.999	D	0.70227	0.968	D	0.92736	0.6204	10	0.87932	D	0	.	15.1103	0.72351	0.0:0.932:0.0:0.068	.	57	Q8WZ64	ARAP2_HUMAN	H	57	ENSP00000302895:R57H	ENSP00000302895:R57H	R	-	2	0	ARAP2	35907334	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	5.359000	0.66074	1.458000	0.47871	0.650000	0.86243	CGT		0.368	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
DCAF4L1	285429	hgsc.bcm.edu	37	4	41984023	41984023	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:41984023G>A	ENST00000333141.5	+	1	311	c.214G>A	c.(214-216)Gac>Aac	p.D72N		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	72								p.D72N(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TTTGGCGAGCGACCGATTTAA	0.547																																					p.D72N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G214A	4						.						96.0	81.0	86.0					4																	41984023		2203	4300	6503	41678780	SO:0001583	missense	285429	exon1			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.214G>A	4.37:g.41984023G>A	ENSP00000327796:p.Asp72Asn	Somatic		Capture	SOLID	Phase_I	41678780	NM_001029955	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	4.244	0.044193	0.08196	.	.	ENSG00000182308	ENST00000333141	T	0.40756	1.02	0.688	-0.52	0.11935	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.182934	0.64402	D	0.000015	T	0.19366	0.0465	L	0.43152	1.355	0.09310	N	0.999996	P	0.47484	0.896	B	0.21151	0.033	T	0.27905	-1.0060	9	0.40728	T	0.16	.	.	.	.	.	72	Q3SXM0	DC4L1_HUMAN	N	72	ENSP00000327796:D72N	ENSP00000327796:D72N	D	+	1	0	DCAF4L1	41678780	0.993000	0.37304	0.023000	0.16930	0.003000	0.03518	0.617000	0.24359	-0.335000	0.08451	-0.657000	0.03884	GAC		0.547	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955	
TMPRSS11D	9407	hgsc.bcm.edu	37	4	68708305	68708305	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:68708305C>T	ENST00000283916.6	-	4	386	c.288G>A	c.(286-288)caG>caA	p.Q96Q	TMPRSS11D_ENST00000545541.1_5'UTR|TMPRSS11D_ENST00000509584.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	96	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Q96Q(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTCTGATGAACTGATTTCTTA	0.343																																					p.Q96Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G288A	4						.						92.0	95.0	94.0					4																	68708305		2203	4300	6503	68390900	SO:0001819	synonymous_variant	9407	exon4			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.288G>A	4.37:g.68708305C>T		Somatic		Capture	SOLID	Phase_I	68390900	NM_004262	Q08AF6	Silent	SNP	ENST00000283916.6	37	CCDS3518.1																																																																																				0.343	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262	
UGT2B17	7367	hgsc.bcm.edu	37	4	69403546	69403546	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:69403546A>G	ENST00000317746.2	-	6	1432	c.1390T>C	c.(1390-1392)Tgg>Cgg	p.W464R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	464					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.W464R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	AACTCAATCCAGAAGACTGCT	0.438																																					p.W464R	Melanoma(18;649 833 28984 37818 38500)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1390C	4						.						112.0	106.0	108.0					4																	69403546		2091	3945	6036	69086141	SO:0001583	missense	7367	exon6			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1390T>C	4.37:g.69403546A>G	ENSP00000320401:p.Trp464Arg	Somatic		Capture	SOLID	Phase_I	69086141	NM_001077		Missense_Mutation	SNP	ENST00000317746.2	37	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	A	13.11	2.139174	0.37728	.	.	ENSG00000197888	ENST00000317746	T	0.75367	-0.93	2.85	2.85	0.33270	.	0.000000	0.64402	U	0.000003	D	0.88243	0.6384	H	0.97365	3.99	0.32012	N	0.601894	.	.	.	.	.	.	D	0.89443	0.3725	8	0.87932	D	0	.	9.0833	0.36565	1.0:0.0:0.0:0.0	.	.	.	.	R	464	ENSP00000320401:W464R	ENSP00000320401:W464R	W	-	1	0	UGT2B17	69086141	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	8.170000	0.89673	1.292000	0.44672	0.164000	0.16699	TGG		0.438	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077	
CABS1	85438	hgsc.bcm.edu	37	4	71201636	71201636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:71201636G>T	ENST00000273936.5	+	1	954	c.880G>T	c.(880-882)Gga>Tga	p.G294*		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	294					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.G294*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACTACCGAGGGAGCCAGTAT	0.423																																					p.G294X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G880T	4						.						111.0	101.0	105.0					4																	71201636		2203	4300	6503	71236225	SO:0001587	stop_gained	85438	exon1			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.880G>T	4.37:g.71201636G>T	ENSP00000273936:p.Gly294*	Somatic		Capture	SOLID	Phase_I	71236225	NM_033122	B2RCB5|Q86UE0|Q96M17	Nonsense_Mutation	SNP	ENST00000273936.5	37	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369477	0.61624	.	.	ENSG00000145309	ENST00000273936	.	.	.	4.23	3.39	0.38822	.	1.060560	0.07461	N	0.900628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-11.7566	7.8987	0.29721	0.1101:0.0:0.8899:0.0	.	.	.	.	X	294	.	ENSP00000273936:G294X	G	+	1	0	CABS1	71236225	0.003000	0.15002	0.002000	0.10522	0.002000	0.02628	1.250000	0.32850	1.368000	0.46115	0.655000	0.94253	GGA		0.423	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122	
SLC4A4	8671	hgsc.bcm.edu	37	4	72423469	72423469	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:72423469A>C	ENST00000264485.5	+	22	2921	c.2804A>C	c.(2803-2805)cAt>cCt	p.H935P	SLC4A4_ENST00000351898.6_Missense_Mutation_p.H851P|SLC4A4_ENST00000340595.3_Missense_Mutation_p.H891P|SLC4A4_ENST00000425175.1_Missense_Mutation_p.H935P	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	935					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CCTCTGAAGCATCAGCCTGAC	0.507																																					p.H935P												.	.	0			c.A2804C	4						.						148.0	121.0	130.0					4																	72423469		2203	4300	6503	72642333	SO:0001583	missense	8671	exon22			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2804A>C	4.37:g.72423469A>C	ENSP00000264485:p.His935Pro	Somatic		Capture	SOLID	Phase_I	72642333	NM_001134742	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.763456	0.89932	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.80738	-1.41;-1.41;-0.89;-1.41	5.95	5.95	0.96441	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91257	0.7244	M	0.88181	2.935	0.80722	D	1	D;B;D;D	0.76494	0.999;0.04;0.994;0.999	D;B;D;D	0.78314	0.989;0.037;0.975;0.991	D	0.92739	0.6206	10	0.87932	D	0	.	16.4101	0.83708	1.0:0.0:0.0:0.0	.	935;851;891;935	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	P	935;935;851;891	ENSP00000264485:H935P;ENSP00000393557:H935P;ENSP00000307349:H851P;ENSP00000344272:H891P	ENSP00000264485:H935P	H	+	2	0	SLC4A4	72642333	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.280000	0.76307	0.460000	0.39030	CAT		0.507	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	
ADAMTS3	9508	hgsc.bcm.edu	37	4	73161446	73161446	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:73161446C>T	ENST00000286657.4	-	19	2684	c.2648G>A	c.(2647-2649)cGc>cAc	p.R883H		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	883	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R883L(1)|p.R883H(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACAGAAGCTGCGATGGACCAT	0.363																																					p.R883H	NSCLC(168;1941 2048 2918 13048 43078)											ADAMTS3,lung,NS,Substitution - Missense,0	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2648A	4						.						215.0	184.0	195.0					4																	73161446		2203	4300	6503	73380310	SO:0001583	missense	9508	exon19			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2648G>A	4.37:g.73161446C>T	ENSP00000286657:p.Arg883His	Somatic		Capture	SOLID	Phase_I	73380310	NM_014243	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706163	0.89018	.	.	ENSG00000156140	ENST00000286657	T	0.60920	0.15	5.14	5.14	0.70334	.	0.074451	0.50627	D	0.000119	T	0.73218	0.3559	L	0.60012	1.86	0.53005	D	0.99996	D	0.89917	1.0	D	0.73708	0.981	T	0.73678	-0.3907	10	0.48119	T	0.1	.	18.6029	0.91255	0.0:1.0:0.0:0.0	.	883	O15072	ATS3_HUMAN	H	883	ENSP00000286657:R883H	ENSP00000286657:R883H	R	-	2	0	ADAMTS3	73380310	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.026000	0.70873	2.379000	0.81126	0.650000	0.86243	CGC		0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
ANKRD17	26057	hgsc.bcm.edu	37	4	73957210	73957210	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:73957210G>A	ENST00000358602.4	-	29	6251	c.6135C>T	c.(6133-6135)tcC>tcT	p.S2045S	ANKRD17_ENST00000330838.6_Silent_p.S1794S|ANKRD17_ENST00000509867.2_Silent_p.S1932S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2045	Ser-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S2045S(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTGGTGATGGGGAAGATGGGG	0.502																																					p.S1794S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5382T	4						.						379.0	357.0	365.0					4																	73957210		2203	4300	6503	74176074	SO:0001819	synonymous_variant	26057	exon28			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6135C>T	4.37:g.73957210G>A		Somatic		Capture	SOLID	Phase_I	74176074	NM_198889	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	CCDS34004.1																																																																																				0.502	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
ANKRD17	26057	hgsc.bcm.edu	37	4	73984548	73984548	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:73984548G>A	ENST00000358602.4	-	22	4161	c.4045C>T	c.(4045-4047)Cgt>Tgt	p.R1349C	ANKRD17_ENST00000330838.6_Missense_Mutation_p.R1098C|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.R1236C	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1349					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1349C(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCTTGTTACGTACATCAATA	0.428																																					p.R1098C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C3292T	4						.						172.0	158.0	163.0					4																	73984548		2203	4300	6503	74203412	SO:0001583	missense	26057	exon21			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4045C>T	4.37:g.73984548G>A	ENSP00000351416:p.Arg1349Cys	Somatic		Capture	SOLID	Phase_I	74203412	NM_198889	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446395	0.84101	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.16324	2.35;2.35;2.35	4.88	4.88	0.63580	Ankyrin repeat-containing domain (4);	0.096722	0.47455	D	0.000232	T	0.41488	0.1161	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.992	D;D;D;D;P	0.87578	0.953;0.996;0.996;0.998;0.761	T	0.33777	-0.9855	10	0.72032	D	0.01	.	18.031	0.89283	0.0:0.0:1.0:0.0	.	870;1348;1098;1349;1236	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	C	1349;1098;1236	ENSP00000351416:R1349C;ENSP00000332265:R1098C;ENSP00000427151:R1236C	ENSP00000332265:R1098C	R	-	1	0	ANKRD17	74203412	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.510000	0.98004	2.266000	0.75297	0.555000	0.69702	CGT		0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
ANKRD17	26057	hgsc.bcm.edu	37	4	74005393	74005393	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:74005393C>T	ENST00000358602.4	-	15	3056	c.2940G>A	c.(2938-2940)ctG>ctA	p.L980L	ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.L867L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	980	Gln-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L980L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCACTCCTTGCAGTTCTGTAA	0.547																																					p.L980L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2940A	4						.						73.0	65.0	67.0					4																	74005393		2203	4300	6503	74224257	SO:0001819	synonymous_variant	26057	exon15			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2940G>A	4.37:g.74005393C>T		Somatic		Capture	SOLID	Phase_I	74224257	NM_032217	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	CCDS34004.1																																																																																				0.547	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
CDKL2	8999	hgsc.bcm.edu	37	4	76551009	76551009	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:76551009A>G	ENST00000429927.2	-	2	867	c.164T>C	c.(163-165)cTa>cCa	p.L55P	CDKL2_ENST00000307465.4_Missense_Mutation_p.L55P	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	55	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.L55P(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACTCACCTTTAGTAACTTGAT	0.284																																					p.L55P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T164C	4						.						133.0	124.0	127.0					4																	76551009		2202	4300	6502	76770033	SO:0001583	missense	8999	exon2			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.164T>C	4.37:g.76551009A>G	ENSP00000412365:p.Leu55Pro	Somatic		Capture	SOLID	Phase_I	76770033	NM_003948	B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.255856	0.80135	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.57107	0.42;0.42	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.80144	0.4569	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86123	0.1570	9	0.87932	D	0	-2.7687	14.182	0.65580	1.0:0.0:0.0:0.0	.	55;55	B4DH08;Q92772	.;CDKL2_HUMAN	P	55	ENSP00000412365:L55P;ENSP00000306340:L55P	ENSP00000306340:L55P	L	-	2	0	CDKL2	76770033	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.612000	0.90909	2.240000	0.73641	0.533000	0.62120	CTA		0.284	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948	
SEPT11	55752	hgsc.bcm.edu	37	4	77936159	77936159	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:77936159G>A	ENST00000264893.6	+	5	877	c.676G>A	c.(676-678)Gca>Aca	p.A226T	SEPT11_ENST00000541121.1_Missense_Mutation_p.A236T|SEPT11_ENST00000502584.1_Missense_Mutation_p.A226T|SEPT11_ENST00000505788.1_Missense_Mutation_p.A226T|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000510515.1_Missense_Mutation_p.A236T	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	226	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.A226T(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						AGAGATTAACGCAACAATGAG	0.438																																					p.A226T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G676A	4						.						127.0	115.0	119.0					4																	77936159		2203	4300	6503	78155183	SO:0001583	missense	55752	exon5			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.676G>A	4.37:g.77936159G>A	ENSP00000264893:p.Ala226Thr	Somatic		Capture	SOLID	Phase_I	78155183	NM_018243	B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846765	0.32606	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.36110	0.0955	N	0.17901	0.54	0.47994	D	0.999564	B;B;B	0.27316	0.145;0.015;0.175	B;B;B	0.21708	0.021;0.013;0.036	T	0.09015	-1.0694	10	0.25106	T	0.35	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	236;218;226	Q9NVA2-2;D6RDU5;Q9NVA2	.;.;SEP11_HUMAN	T	226;226;218;226;236;236	ENSP00000264893:A226T;ENSP00000426344:A226T;ENSP00000420839:A218T;ENSP00000424925:A226T;ENSP00000422896:A236T;ENSP00000443701:A236T	ENSP00000264893:A226T	A	+	1	0	SEPT11	78155183	1.000000	0.71417	0.381000	0.26106	0.006000	0.05464	4.064000	0.57506	2.687000	0.91594	0.655000	0.94253	GCA		0.438	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243	
LIN54	132660	hgsc.bcm.edu	37	4	83900139	83900139	+	Silent	SNP	C	C	T	rs139357134	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:83900139C>T	ENST00000340417.3	-	3	1082	c.705G>A	c.(703-705)acG>acA	p.T235T	LIN54_ENST00000446851.2_Silent_p.T14T|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000395282.2_Intron|LIN54_ENST00000510557.1_Silent_p.T14T|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000442461.2_Silent_p.T14T|LIN54_ENST00000505397.1_Silent_p.T235T	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	235					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.T235T(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CAGAGGTTGGCGTTCGAGGCT	0.358													C|||	3	0.000599042	0.0023	0.0	5008	,	,		14557	0.0		0.0	False		,,,				2504	0.0				p.T14T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G42A	4						.	C	,,	23,4383	29.9+/-59.1	0,23,2180	135.0	134.0	135.0		42,42,705	-2.8	1.0	4	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LIN54	NM_001115007.1,NM_001115008.1,NM_194282.2	,,	0,23,6480	TT,TC,CC		0.0,0.522,0.1768	,,	14/529,14/529,235/750	83900139	23,12983	2203	4300	6503	84119163	SO:0001819	synonymous_variant	132660	exon3			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.705G>A	4.37:g.83900139C>T		Somatic		Capture	SOLID	Phase_I	84119163	NM_001115008	Q32M68|Q32M69|Q6N071|Q76B60	Silent	SNP	ENST00000340417.3	37	CCDS3599.1																																																																																				0.358	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282	
WDFY3	23001	hgsc.bcm.edu	37	4	85672796	85672796	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:85672796T>A	ENST00000295888.4	-	36	6220	c.5813A>T	c.(5812-5814)aAc>aTc	p.N1938I	WDFY3_ENST00000322366.6_Missense_Mutation_p.N1938I	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1938					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.N1938I(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGGCTCCTGTTCATCCCTGT	0.443																																					p.N1938I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5813T	4						.						185.0	166.0	172.0					4																	85672796		2203	4300	6503	85891820	SO:0001583	missense	23001	exon36			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5813A>T	4.37:g.85672796T>A	ENSP00000295888:p.Asn1938Ile	Somatic		Capture	SOLID	Phase_I	85891820	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039481	0.55003	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64085	-0.08;-0.08	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	N	0.25647	0.755	0.80722	D	1	B	0.32365	0.367	B	0.26864	0.074	T	0.48234	-0.9053	10	0.37606	T	0.19	.	16.1002	0.81166	0.0:0.0:0.0:1.0	.	1938	Q8IZQ1	WDFY3_HUMAN	I	1938	ENSP00000318466:N1938I;ENSP00000295888:N1938I	ENSP00000295888:N1938I	N	-	2	0	WDFY3	85891820	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.694000	0.84235	2.194000	0.70268	0.477000	0.44152	AAC		0.443	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
SPARCL1	8404	hgsc.bcm.edu	37	4	88415276	88415276	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:88415276T>C	ENST00000282470.6	-	4	1146	c.676A>G	c.(676-678)Agg>Ggg	p.R226G	SPARCL1_ENST00000503414.1_Missense_Mutation_p.R101G|SPARCL1_ENST00000418378.1_Missense_Mutation_p.R226G	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	226					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R226G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GCATGCTCCCTGGGCAATTCT	0.433																																					p.R226G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A676G	4						.						308.0	311.0	310.0					4																	88415276		2203	4300	6503	88634300	SO:0001583	missense	8404	exon5			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.676A>G	4.37:g.88415276T>C	ENSP00000282470:p.Arg226Gly	Somatic		Capture	SOLID	Phase_I	88634300	NM_001128310	B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	T	6.694	0.496736	0.12762	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.23950	2.47;2.47;1.88	4.95	-3.23	0.05109	.	0.994452	0.08173	N	0.986758	T	0.10337	0.0253	N	0.08118	0	0.09310	N	1	B;B	0.21520	0.057;0.057	B;B	0.11329	0.006;0.006	T	0.31420	-0.9944	10	0.29301	T	0.29	-1.4522	5.2147	0.15336	0.0:0.3611:0.3116:0.3273	.	226;226	Q8N4S1;Q14515	.;SPRL1_HUMAN	G	226;226;101;101	ENSP00000282470:R226G;ENSP00000414856:R226G;ENSP00000422903:R101G	ENSP00000282470:R226G	R	-	1	2	SPARCL1	88634300	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-0.506000	0.06359	-0.405000	0.07599	-0.316000	0.08728	AGG		0.433	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		
FAM13A	10144	hgsc.bcm.edu	37	4	89702496	89702496	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:89702496A>G	ENST00000264344.5	-	11	1485	c.1278T>C	c.(1276-1278)ctT>ctC	p.L426L	FAM13A_ENST00000513837.1_Silent_p.L72L|FAM13A_ENST00000395002.2_Silent_p.L100L|FAM13A_ENST00000508369.1_Silent_p.L100L|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000503556.1_Silent_p.L86L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	426					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.L426L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTTTGTTGATAAGTCCCCTTG	0.318																																					p.L426L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1278C	4						.						60.0	63.0	62.0					4																	89702496		2203	4299	6502	89921519	SO:0001819	synonymous_variant	10144	exon11			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1278T>C	4.37:g.89702496A>G		Somatic		Capture	SOLID	Phase_I	89921519	NM_014883	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	CCDS34029.1																																																																																				0.318	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
ZFP42	132625	hgsc.bcm.edu	37	4	188924091	188924091	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:188924091A>C	ENST00000326866.4	+	4	538	c.130A>C	c.(130-132)Agc>Cgc	p.S44R	ZFP42_ENST00000509524.1_Missense_Mutation_p.S44R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	44					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S44R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAACCTGTCAGCGCGGTGTG	0.562																																					p.S44R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A130C	4						.						108.0	93.0	98.0					4																	188924091		2203	4300	6503	189161085	SO:0001583	missense	132625	exon4			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.130A>C	4.37:g.188924091A>C	ENSP00000317686:p.Ser44Arg	Somatic		Capture	SOLID	Phase_I	189161085	NM_174900	D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	A	6.765	0.510111	0.12883	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.10477	2.87;2.87	4.47	-8.93	0.00771	.	0.546196	0.16069	U	0.231087	T	0.03053	0.0090	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23119	-1.0197	10	0.33940	T	0.23	.	7.0513	0.25075	0.5705:0.2634:0.0939:0.0722	.	44	Q96MM3	ZFP42_HUMAN	R	44	ENSP00000317686:S44R;ENSP00000424662:S44R	ENSP00000317686:S44R	S	+	1	0	ZFP42	189161085	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.305000	0.00519	-3.721000	0.00115	-0.132000	0.14878	AGC		0.562	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900	
PRPS1	5631	hgsc.bcm.edu	37	X	106885619	106885619	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:106885619C>T	ENST00000372435.4	+	4	551	c.429C>T	c.(427-429)gaC>gaT	p.D143D	PRPS1_ENST00000543248.1_Silent_p.D143D|PRPS1_ENST00000372418.1_Silent_p.D43D|PRPS1_ENST00000372428.4_Silent_p.D76D	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	143					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.D143D(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TCCCAGTAGACAATTTGTATG	0.423																																					p.D143D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C429T	X						.						110.0	98.0	102.0					X																	106885619		2203	4300	6503	106772275	SO:0001819	synonymous_variant	5631	exon4			X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"""PRS I"", ""ribose-phosphate diphosphokinase 1"""	311850	"""deafness, X-linked 2, perceptive, congenital"""	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.429C>T	X.37:g.106885619C>T		Somatic		Capture	SOLID	Phase_I	106772275	NM_002764	B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Silent	SNP	ENST00000372435.4	37	CCDS14529.1																																																																																				0.423	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1		
RGAG1	57529	hgsc.bcm.edu	37	X	109696596	109696596	+	Silent	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:109696596C>A	ENST00000465301.2	+	3	2997	c.2751C>A	c.(2749-2751)ccC>ccA	p.P917P	RGAG1_ENST00000540313.1_Silent_p.P917P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	917										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TAAGGAGACCCTCAGCCTGTG	0.547																																					p.P917P												.	.	0			c.C2751A	X						.						110.0	111.0	111.0					X																	109696596		2203	4299	6502	109583252	SO:0001819	synonymous_variant	57529	exon3			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2751C>A	X.37:g.109696596C>A		Somatic		Capture	SOLID	Phase_I	109583252	NM_020769	Q9P2M8	Silent	SNP	ENST00000465301.2	37	CCDS14552.1																																																																																				0.547	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
WDR44	54521	hgsc.bcm.edu	37	X	117532357	117532357	+	Missense_Mutation	SNP	G	G	A	rs149448936		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:117532357G>A	ENST00000254029.3	+	8	1593	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T	WDR44_ENST00000371822.5_Missense_Mutation_p.A375T|WDR44_ENST00000371825.3_Missense_Mutation_p.A400T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	400						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.A400T(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CAGTAATGACGCGGCACAGTC	0.358													G|||	1	0.000264901	0.0	0.0	3775	,	,		10953	0.0		0.0	False		,,,				2504	0.001				p.A375T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1123A	X						.	G	THR/ALA,THR/ALA,THR/ALA	0,3835		0,0,1632,571	130.0	112.0	118.0		1198,1123,1198	5.0	0.8	X	dbSNP_134	118	1,6727		0,1,2427,1872	no	missense,missense,missense	WDR44	NM_001184965.1,NM_001184966.1,NM_019045.4	58,58,58	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging,possibly-damaging	400/906,375/825,400/914	117532357	1,10562	2203	4300	6503	117416385	SO:0001583	missense	54521	exon7			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1198G>A	X.37:g.117532357G>A	ENSP00000254029:p.Ala400Thr	Somatic		Capture	SOLID	Phase_I	117416385	NM_001184966	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.64|17.64	3.439235|3.439235	0.63067|0.63067	0.0|0.0	1.49E-4|1.49E-4	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825|ENST00000371848	T;T;T|.	0.74947|.	-0.89;-0.31;-0.18|.	5.92|5.92	5.03|5.03	0.67393|0.67393	.|.	0.045219|.	0.85682|.	N|.	0.000000|.	T|T	0.52175|0.52175	0.1718|0.1718	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.99999|0.99999	B;D;D;B|.	0.62365|.	0.334;0.972;0.991;0.135|.	B;B;P;B|.	0.53006|.	0.063;0.385;0.715;0.042|.	T|T	0.46190|0.46190	-0.9209|-0.9209	10|5	0.59425|.	D|.	0.04|.	-13.3631|-13.3631	12.4116|12.4116	0.55469|0.55469	0.0856:0.0:0.9144:0.0|0.0856:0.0:0.9144:0.0	.|.	375;400;400;400|.	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3|.	.;.;.;WDR44_HUMAN|.	T|H	375;400;400|299	ENSP00000360887:A375T;ENSP00000254029:A400T;ENSP00000360890:A400T|.	ENSP00000254029:A400T|.	A|R	+|+	1|2	0|0	WDR44|WDR44	117416385|117416385	1.000000|1.000000	0.71417|0.71417	0.779000|0.779000	0.31741|0.31741	0.887000|0.887000	0.51463|0.51463	7.743000|7.743000	0.85020|0.85020	1.176000|1.176000	0.42840|0.42840	0.600000|0.600000	0.82982|0.82982	GCG|CGC		0.358	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045	
GRIA3	2892	hgsc.bcm.edu	37	X	122561805	122561805	+	Missense_Mutation	SNP	C	C	T	rs137852351		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:122561805C>T	ENST00000371251.1	+	12	1943	c.1891C>T	c.(1891-1893)Cgc>Tgc	p.R631C	GRIA3_ENST00000542149.1_Missense_Mutation_p.R631C|GRIA3_ENST00000264357.5_Missense_Mutation_p.R631C|GRIA3_ENST00000371256.5_Missense_Mutation_p.R631C			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	631			R -> S (in MRX94; homomers have minimal or no current; heteromers have altered desensitization kinetics). {ECO:0000269|PubMed:17989220}.		glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.R631C(2)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ACTCTCCGGGCGCATTGTTGG	0.438																																					p.R631C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1891T	X	GRCh37	CM074897	GRIA3	M	rs137852351	.						138.0	123.0	128.0					X																	122561805		2203	4300	6503	122389486	SO:0001583	missense	2892	exon12			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1891C>T	X.37:g.122561805C>T	ENSP00000360297:p.Arg631Cys	Somatic		Capture	SOLID	Phase_I	122389486	NM_007325	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427346	0.62733	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.36	4.37	0.52481	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.92881	0.6323	10	0.87932	D	0	.	12.0012	0.53232	0.2805:0.7195:0.0:0.0	.	631;631	P42263;P42263-2	GRIA3_HUMAN;.	C	631	ENSP00000264357:R631C;ENSP00000446146:R631C;ENSP00000360302:R631C;ENSP00000360297:R631C	ENSP00000264357:R631C	R	+	1	0	GRIA3	122389486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.243000	0.43115	2.367000	0.80283	0.600000	0.82982	CGC		0.438	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	
BCORL1	63035	hgsc.bcm.edu	37	X	129159308	129159308	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:129159308G>C	ENST00000218147.7	+	7	4229	c.4032G>C	c.(4030-4032)gaG>gaC	p.E1344D	BCORL1_ENST00000540052.1_Missense_Mutation_p.E1344D|BCORL1_ENST00000359304.2_Intron|BCORL1_ENST00000303743.5_Missense_Mutation_p.E1344D			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1344					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGACTGGGGAGTACCTGACAG	0.592																																					p.E1344D												.	.	0			c.G4032C	X						.						76.0	72.0	74.0					X																	129159308		2203	4297	6500	128986989	SO:0001583	missense	63035	exon6			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4032G>C	X.37:g.129159308G>C	ENSP00000218147:p.Glu1344Asp	Somatic		Capture	SOLID	Phase_I	128986989	NM_021946	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665096	0.67700	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000540052;ENST00000456822	T;T;T;T	0.57595	0.39;0.76;0.39;0.83	5.61	3.83	0.44106	.	0.000000	0.37178	N	0.002211	T	0.54334	0.1852	L	0.27053	0.805	0.39171	D	0.962598	D;D	0.69078	0.996;0.997	D;D	0.76071	0.987;0.978	T	0.50499	-0.8821	10	0.19147	T	0.46	-22.7215	10.2346	0.43275	0.2366:0.0:0.7634:0.0	.	1344;1344	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	D	1344;1344;1344;944	ENSP00000218147:E1344D;ENSP00000307541:E1344D;ENSP00000437775:E1344D;ENSP00000399483:E944D	ENSP00000218147:E1344D	E	+	3	2	BCORL1	128986989	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	0.931000	0.28871	1.122000	0.41944	-0.322000	0.08575	GAG		0.592	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
AIFM1	9131	hgsc.bcm.edu	37	X	129274571	129274571	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:129274571C>G	ENST00000287295.3	-	7	948	c.718G>C	c.(718-720)Gac>Cac	p.D240H	AIFM1_ENST00000319908.3_Missense_Mutation_p.D236H|AIFM1_ENST00000535724.1_Missense_Mutation_p.D153H|AIFM1_ENST00000440263.1_5'Flank|AIFM1_ENST00000460436.2_5'Flank|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	240	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.D236H(1)|p.D240H(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	ACCATGTTGTCTCTCACATCC	0.378																																					p.D236H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G706C	X						.						168.0	135.0	146.0					X																	129274571		2203	4300	6503	129102252	SO:0001583	missense	9131	exon7			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.718G>C	X.37:g.129274571C>G	ENSP00000287295:p.Asp240His	Somatic		Capture	SOLID	Phase_I	129102252	NM_145812	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117499	0.77323	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	D;D;D	0.83075	-1.68;-1.68;-1.68	5.12	5.12	0.69794	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.282452	0.39687	N	0.001297	D	0.86218	0.5880	M	0.64170	1.965	0.34809	D	0.737512	B;B;B	0.33171	0.365;0.348;0.4	B;B;B	0.44278	0.239;0.317;0.445	D	0.89728	0.3924	10	0.45353	T	0.12	-0.0857	17.745	0.88418	0.0:1.0:0.0:0.0	.	240;236;240	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	H	236;153;240	ENSP00000315122:D236H;ENSP00000446113:D153H;ENSP00000287295:D240H	ENSP00000287295:D240H	D	-	1	0	AIFM1	129102252	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.487000	0.81328	2.120000	0.65058	0.384000	0.25694	GAC		0.378	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2		
PLAC1	10761	hgsc.bcm.edu	37	X	133700530	133700530	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:133700530G>C	ENST00000359237.4	-	3	468	c.183C>G	c.(181-183)tgC>tgG	p.C61W	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1									p.C61W(1)		large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GGTTTGGGGGGCAACCCAGGC	0.507																																					p.C61W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C183G	X						.						234.0	198.0	210.0					X																	133700530		2203	4300	6503	133528196	SO:0001583	missense	10761	exon3			AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.183C>G	X.37:g.133700530G>C	ENSP00000352173:p.Cys61Trp	Somatic		Capture	SOLID	Phase_I	133528196	NM_021796		Missense_Mutation	SNP	ENST00000359237.4	37	CCDS14642.1	.	.	.	.	.	.	.	.	.	.	G	7.199	0.593078	0.13875	.	.	ENSG00000170965	ENST00000359237	D	0.99884	-7.49	4.25	-1.85	0.07784	.	0.000000	0.47455	D	0.000230	D	0.99796	0.9913	M	0.79475	2.455	0.24184	N	0.995577	D	0.89917	1.0	D	0.91635	0.999	D	0.99983	1.2861	10	0.87932	D	0	-19.9614	10.3813	0.44113	0.5378:0.0:0.4622:0.0	.	61	Q9HBJ0	PLAC1_HUMAN	W	61	ENSP00000352173:C61W	ENSP00000352173:C61W	C	-	3	2	PLAC1	133528196	0.922000	0.31269	0.119000	0.21687	0.034000	0.12701	-0.376000	0.07465	-0.984000	0.03507	-0.905000	0.02835	TGC		0.507	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796	
SLC9A6	10479	hgsc.bcm.edu	37	X	135122283	135122283	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:135122283A>G	ENST00000370698.3	+	15	1715	c.1680A>G	c.(1678-1680)acA>acG	p.T560T	SLC9A6_ENST00000370695.4_Silent_p.T592T|SLC9A6_ENST00000370701.1_Silent_p.T540T	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	560					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.T560T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGACAACAACACTCCCTGCCT	0.498																																					p.T540T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1620G	X						.						46.0	38.0	41.0					X																	135122283		2203	4300	6503	134949949	SO:0001819	synonymous_variant	10479	exon16			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1680A>G	X.37:g.135122283A>G		Somatic		Capture	SOLID	Phase_I	134949949	NM_001177651	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	ENST00000370698.3	37	CCDS14654.1																																																																																				0.498	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359	
MCF2	4168	hgsc.bcm.edu	37	X	138678716	138678716	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:138678716A>G	ENST00000370576.4	-	19	2478	c.2269T>C	c.(2269-2271)Tgt>Cgt	p.C757R	MCF2_ENST00000370578.4_Missense_Mutation_p.C902R|MCF2_ENST00000536274.1_Missense_Mutation_p.C718R|MCF2_ENST00000338585.6_Missense_Mutation_p.C773R|MCF2_ENST00000520602.1_Missense_Mutation_p.C817R|MCF2_ENST00000414978.1_Missense_Mutation_p.C817R|MCF2_ENST00000519895.1_Missense_Mutation_p.C833R|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Missense_Mutation_p.C757R	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	757	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C757R(1)|p.C833R(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ACTTTCCAACAGTGTTTAAAA	0.373																																					p.C817R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2449C	X						.						61.0	49.0	53.0					X																	138678716		2203	4299	6502	138506382	SO:0001583	missense	4168	exon22				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2269T>C	X.37:g.138678716A>G	ENSP00000359608:p.Cys757Arg	Somatic		Capture	SOLID	Phase_I	138506382	NM_001099855	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.27|13.27	2.188079|2.188079	0.38609|0.38609	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.10668|.	2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85|.	5.67|5.67	4.47|4.47	0.54385|0.54385	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.474733|.	0.28425|.	N|.	0.015400|.	T|T	0.53190|0.53190	0.1781|0.1781	L|L	0.40543|0.40543	1.245|1.245	0.54753|0.54753	D|D	0.999988|0.999988	B;P;B;B;B;B;P;B|.	0.48162|.	0.291;0.848;0.415;0.291;0.415;0.433;0.906;0.291|.	B;P;B;B;B;B;P;B|.	0.51516|.	0.125;0.569;0.308;0.125;0.246;0.223;0.672;0.125|.	T|T	0.45011|0.45011	-0.9290|-0.9290	10|5	0.36615|.	T|.	0.2|.	.|.	8.6773|8.6773	0.34187|0.34187	0.6905:0.0:0.0:0.3095|0.6905:0.0:0.0:0.3095	.|.	833;902;718;757;757;902;773;757|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	R|P	817;757;718;902;817;360;833;757;773|260	ENSP00000427745:C817R;ENSP00000359608:C757R;ENSP00000438155:C718R;ENSP00000359610:C902R;ENSP00000397055:C817R;ENSP00000405848:C360R;ENSP00000430276:C833R;ENSP00000359605:C757R;ENSP00000342204:C773R|.	ENSP00000342204:C773R|.	C|L	-|-	1|2	0|0	MCF2|MCF2	138506382|138506382	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.972000|0.972000	0.66771|0.66771	2.847000|2.847000	0.48270|0.48270	0.724000|0.724000	0.32296|0.32296	0.486000|0.486000	0.48141|0.48141	TGT|CTG		0.373	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
FMR1	2332	hgsc.bcm.edu	37	X	147030281	147030281	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:147030281C>T	ENST00000370475.4	+	17	1944	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	FMR1_ENST00000370471.3_Silent_p.C515C|FMR1_ENST00000370477.1_Missense_Mutation_p.R556C|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000218200.8_Missense_Mutation_p.R585C|FMR1_ENST00000370470.1_Missense_Mutation_p.R564C|FMR1_ENST00000440235.2_Missense_Mutation_p.R236C|FMR1_ENST00000439526.2_Missense_Mutation_p.R566C	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	606	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R606C(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTCGGCTGCGCACGGGTAA	0.433									Fragile X syndrome																												p.R560C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1678T	X						.						129.0	111.0	117.0					X																	147030281		2203	4300	6503	146837973	SO:0001583	missense	2332	exon16	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1816C>T	X.37:g.147030281C>T	ENSP00000359506:p.Arg606Cys	Somatic		Capture	SOLID	Phase_I	146837973	NM_001185082	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135328	0.77662	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T;T;T;T;T;T	0.60920	0.2;1.02;0.15;0.98;0.88;1.23	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.78291	0.4260	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.964;0.964;0.975;0.997	T	0.81104	-0.1084	9	0.87932	D	0	-20.0256	17.7573	0.88453	0.0:1.0:0.0:0.0	.	236;606;501;560;566	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	C	585;556;606;566;564;236	ENSP00000218200:R585C;ENSP00000359508:R556C;ENSP00000359506:R606C;ENSP00000395923:R566C;ENSP00000359501:R564C;ENSP00000413764:R236C	ENSP00000218200:R585C	R	+	1	0	FMR1	146837973	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.189000	0.50965	2.499000	0.84300	0.594000	0.82650	CGC		0.433	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024	
MAMLD1	10046	hgsc.bcm.edu	37	X	149638866	149638866	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:149638866C>T	ENST00000370401.2	+	4	1331	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	MAMLD1_ENST00000432680.2_Missense_Mutation_p.R316C|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.R341C|MAMLD1_ENST00000426613.2_Missense_Mutation_p.R316C			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	341					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R268C(1)|p.R341C(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TCCACCTTACCGCCCAGTGcc	0.632													C|||	1	0.000264901	0.0	0.0	3775	,	,		11919	0.001		0.0	False		,,,				2504	0.0				p.R316C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C946T	X						.						99.0	59.0	73.0					X																	149638866		2203	4300	6503	149389524	SO:0001583	missense	10046	exon2			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1021C>T	X.37:g.149638866C>T	ENSP00000359428:p.Arg341Cys	Somatic		Capture	SOLID	Phase_I	149389524	NM_001177466	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495077	0.26774	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.67523	0.13;-0.27;0.13;0.13	5.3	1.31	0.21738	.	0.342720	0.26503	N	0.024009	T	0.66877	0.2834	L	0.53249	1.67	0.19775	N	0.99995	D;B;B;D	0.76494	0.999;0.059;0.105;0.999	P;B;B;P	0.59703	0.862;0.012;0.027;0.804	T	0.56414	-0.7983	9	.	.	.	-3.7737	2.4485	0.04512	0.2644:0.467:0.1045:0.1641	.	303;316;316;341	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	C	303;341;316;341;316	ENSP00000359428:R341C;ENSP00000414517:R316C;ENSP00000262858:R341C;ENSP00000397438:R316C	.	R	+	1	0	MAMLD1	149389524	0.998000	0.40836	0.101000	0.21167	0.285000	0.27093	1.195000	0.32186	0.118000	0.18165	-0.191000	0.12829	CGC		0.632	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
MTM1	4534	hgsc.bcm.edu	37	X	149787599	149787599	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:149787599T>C	ENST00000370396.2	+	6	485	c.431T>C	c.(430-432)cTg>cCg	p.L144P	MTM1_ENST00000413012.2_Missense_Mutation_p.L107P|MTM1_ENST00000543350.1_Missense_Mutation_p.L29P|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Missense_Mutation_p.L49P	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	144					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)	p.L144P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GCGTTTCCCCTGGCTCACAGT	0.507																																					p.L144P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T431C	X	GRCh37	CI024231	MTM1	I		.						187.0	125.0	146.0					X																	149787599		2203	4300	6503	149538257	SO:0001583	missense	4534	exon6			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.431T>C	X.37:g.149787599T>C	ENSP00000359423:p.Leu144Pro	Somatic		Capture	SOLID	Phase_I	149538257	NM_000252	A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.163385	0.38217	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.84	3.48	0.39840	.	0.222286	0.38897	N	0.001531	D	0.84023	0.5381	M	0.72576	2.205	0.58432	D	0.999999	P;P	0.41546	0.754;0.754	P;P	0.49708	0.62;0.62	D	0.84583	0.0662	10	0.87932	D	0	.	5.7568	0.18178	0.227:0.0:0.1473:0.6257	.	107;144	B7Z491;Q13496	.;MTM1_HUMAN	P	144;49;29;107	ENSP00000359423:L144P;ENSP00000444015:L49P;ENSP00000439784:L29P;ENSP00000389157:L107P	ENSP00000359423:L144P	L	+	2	0	MTM1	149538257	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	3.341000	0.52151	1.961000	0.56991	0.486000	0.48141	CTG		0.507	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252	
CNGA2	1260	hgsc.bcm.edu	37	X	150912451	150912451	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:150912451C>T	ENST00000329903.4	+	6	1509	c.1476C>T	c.(1474-1476)taC>taT	p.Y492Y		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	492					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					aGGAGATGTACATCATTAAGG	0.532																																					p.Y492Y												.	.	0			c.C1476T	X						.						159.0	132.0	141.0					X																	150912451		2203	4300	6503	150663107	SO:0001819	synonymous_variant	1260	exon7			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1476C>T	X.37:g.150912451C>T		Somatic		Capture	SOLID	Phase_I	150663107	NM_005140	A0AVD0	Silent	SNP	ENST00000329903.4	37	CCDS14701.1																																																																																				0.532	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140	
NSDHL	50814	hgsc.bcm.edu	37	X	152037515	152037515	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:152037515C>A	ENST00000370274.3	+	8	1171	c.977C>A	c.(976-978)cCc>cAc	p.P326H	NSDHL_ENST00000440023.1_Missense_Mutation_p.P326H	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	326					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTTCACACCCATGCGGGTC	0.577																																					p.P326H												.	.	0			c.C977A	X						.						81.0	64.0	70.0					X																	152037515		2203	4300	6503	151788171	SO:0001583	missense	50814	exon9			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.977C>A	X.37:g.152037515C>A	ENSP00000359297:p.Pro326His	Somatic		Capture	SOLID	Phase_I	151788171	NM_001129765	D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632076	0.46944	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.83755	-1.76;-1.76	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	D	0.89476	0.6726	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.90293	0.4324	10	0.59425	D	0.04	-10.3734	13.5828	0.61913	0.0:1.0:0.0:0.0	.	326	Q15738	NSDHL_HUMAN	H	326	ENSP00000359297:P326H;ENSP00000391854:P326H	ENSP00000359297:P326H	P	+	2	0	NSDHL	151788171	1.000000	0.71417	0.196000	0.23383	0.235000	0.25334	7.720000	0.84759	1.989000	0.58080	0.544000	0.68410	CCC		0.577	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922	
ATP2B3	492	hgsc.bcm.edu	37	X	152825303	152825303	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:152825303C>T	ENST00000349466.2	+	17	3068	c.2742C>T	c.(2740-2742)taC>taT	p.Y914Y	ATP2B3_ENST00000370181.2_Silent_p.Y900Y|ATP2B3_ENST00000393842.1_Silent_p.Y900Y|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000359149.3_Silent_p.Y914Y|ATP2B3_ENST00000263519.4_Silent_p.Y914Y|ATP2B3_ENST00000370186.1_Silent_p.Y900Y			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	914					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.Y914Y(2)|p.Y900Y(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGCCGTACGGCCGCGACA	0.597																																					p.Y914Y												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C2742T	X						.						82.0	66.0	71.0					X																	152825303		2203	4300	6503	152478497	SO:0001819	synonymous_variant	492	exon16			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2742C>T	X.37:g.152825303C>T		Somatic		Capture	SOLID	Phase_I	152478497	NM_021949	B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	CCDS35440.1																																																																																				0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
SCML1	6322	hgsc.bcm.edu	37	X	17770044	17770044	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:17770044T>G	ENST00000380041.3	+	7	1141	c.813T>G	c.(811-813)gaT>gaG	p.D271E	SCML1_ENST00000380045.3_Missense_Mutation_p.D150E|SCML1_ENST00000380043.3_Missense_Mutation_p.D244E|SCML1_ENST00000398080.1_Missense_Mutation_p.D150E	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	271	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D271E(1)|p.D150E(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					AACAAACAGATCCTCTTGCAT	0.443																																					p.D244E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T732G	X						.						367.0	304.0	325.0					X																	17770044		2203	4300	6503	17679965	SO:0001583	missense	6322	exon6				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.813T>G	X.37:g.17770044T>G	ENSP00000369380:p.Asp271Glu	Somatic		Capture	SOLID	Phase_I	17679965	NM_006746	B0FZN6|B2RA08|Q5H968|Q5H969	Missense_Mutation	SNP	ENST00000380041.3	37	CCDS35210.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.283273	0.59867	.	.	ENSG00000047634	ENST00000380045;ENST00000380041;ENST00000380043;ENST00000398080	.	.	.	4.31	1.68	0.24146	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.082122	0.45606	N	0.000346	T	0.63885	0.2549	M	0.88570	2.965	0.24611	N	0.99372	D;D	0.62365	0.989;0.991	P;P	0.56823	0.708;0.807	T	0.59101	-0.7517	9	0.87932	D	0	-19.3694	8.7702	0.34728	0.3056:0.0:0.0:0.6944	.	244;271	Q9UN30-2;Q9UN30	.;SCML1_HUMAN	E	150;271;244;150	.	ENSP00000369380:D271E	D	+	3	2	SCML1	17679965	1.000000	0.71417	0.026000	0.17262	0.002000	0.02628	0.898000	0.28404	0.102000	0.17638	0.437000	0.28790	GAT		0.443	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746	
BEND2	139105	hgsc.bcm.edu	37	X	18234668	18234668	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:18234668G>T	ENST00000380033.4	-	2	343	c.211C>A	c.(211-213)Cat>Aat	p.H71N	BEND2_ENST00000380030.3_Missense_Mutation_p.H71N	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	71								p.H71N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGACGGTGATGGCCATCATTG	0.398																																					p.H71N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C211A	X						.						231.0	187.0	202.0					X																	18234668		2203	4300	6503	18144589	SO:0001583	missense	139105	exon2			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.211C>A	X.37:g.18234668G>T	ENSP00000369372:p.His71Asn	Somatic		Capture	SOLID	Phase_I	18144589	NM_153346	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	7.534	0.659271	0.14645	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.25912	1.8;1.77	3.23	-6.47	0.01902	.	1.942250	0.03132	N	0.165353	T	0.17109	0.0411	L	0.31476	0.935	0.09310	N	1	B;B	0.31174	0.311;0.311	B;B	0.25987	0.065;0.065	T	0.21177	-1.0253	10	0.66056	D	0.02	0.6565	8.227	0.31575	0.1766:0.2818:0.5416:0.0	.	71;71	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	N	71	ENSP00000369372:H71N;ENSP00000369369:H71N	ENSP00000369369:H71N	H	-	1	0	BEND2	18144589	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.592000	0.05747	-2.103000	0.00844	-0.503000	0.04515	CAT		0.398	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346	
SCML2	10389	hgsc.bcm.edu	37	X	18264926	18264926	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:18264926T>C	ENST00000251900.4	-	13	1752	c.1593A>G	c.(1591-1593)ggA>ggG	p.G531G	SCML2_ENST00000398048.3_Silent_p.G267G	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	531					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G531G(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GAATGGCACTTCCCCCAGCAA	0.363																																					p.G531G	Esophageal Squamous(100;1252 1965 19021 35517)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1593G	X						.						83.0	90.0	87.0					X																	18264926		2203	4300	6503	18174847	SO:0001819	synonymous_variant	10389	exon13			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1593A>G	X.37:g.18264926T>C		Somatic		Capture	SOLID	Phase_I	18174847	NM_006089	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Silent	SNP	ENST00000251900.4	37	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	T	3.997	-0.003392	0.07773	.	.	ENSG00000102098	ENST00000420857	.	.	.	5.5	2.92	0.33932	.	.	.	.	.	T	0.26882	0.0658	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21724	-1.0237	4	.	.	.	.	4.9303	0.13914	0.1379:0.1558:0.0:0.7063	.	.	.	.	G	47	.	.	E	-	2	0	SCML2	18174847	0.047000	0.20315	0.000000	0.03702	0.001000	0.01503	0.303000	0.19210	0.247000	0.21414	0.483000	0.47432	GAA		0.363	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089	
IL1RAPL1	11141	hgsc.bcm.edu	37	X	29973718	29973718	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:29973718C>T	ENST00000378993.1	+	11	2545	c.1872C>T	c.(1870-1872)taC>taT	p.Y624Y	IL1RAPL1_ENST00000302196.4_Silent_p.Y624Y	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	624	Interaction with NCS1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGAAACACTACTACCGAAGCT	0.522																																					p.Y624Y												.	.	0			c.C1872T	X						.						94.0	44.0	61.0					X																	29973718		2202	4300	6502	29883639	SO:0001819	synonymous_variant	11141	exon11			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1872C>T	X.37:g.29973718C>T		Somatic		Capture	SOLID	Phase_I	29883639	NM_014271	A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	CCDS14218.1																																																																																				0.522	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
MAGEB1	4112	hgsc.bcm.edu	37	X	30268809	30268809	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:30268809A>G	ENST00000378981.3	+	4	520	c.199A>G	c.(199-201)Acc>Gcc	p.T67A	MAGEB1_ENST00000397548.2_Missense_Mutation_p.T67A|MAGEB1_ENST00000397550.1_Missense_Mutation_p.T67A	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	67										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AGCTCCACCCACCACCACTGC	0.562																																					p.T67A												.	.	0			c.A199G	X						.						38.0	30.0	33.0					X																	30268809		2202	4300	6502	30178730	SO:0001583	missense	4112	exon4				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.199A>G	X.37:g.30268809A>G	ENSP00000368264:p.Thr67Ala	Somatic		Capture	SOLID	Phase_I	30178730	NM_002363	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	A	9.762	1.170439	0.21621	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.05139	3.49;3.49;3.49	3.83	-4.47	0.03525	Melanoma associated antigen, MAGE, N-terminal (1);	0.640450	0.13586	N	0.376942	T	0.08044	0.0201	L	0.61387	1.9	0.09310	N	1	P	0.36110	0.537	B	0.42245	0.381	T	0.09662	-1.0664	10	0.49607	T	0.09	.	5.7442	0.18110	0.2556:0.3222:0.4222:0.0	.	67	P43366	MAGB1_HUMAN	A	67	ENSP00000368264:T67A;ENSP00000380683:T67A;ENSP00000380681:T67A	ENSP00000368264:T67A	T	+	1	0	MAGEB1	30178730	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-1.203000	0.02652	-1.278000	0.01390	ACC		0.562	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363	
DMD	1756	hgsc.bcm.edu	37	X	32472919	32472919	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:32472919C>A	ENST00000357033.4	-	26	3669	c.3463G>T	c.(3463-3465)Ggt>Tgt	p.G1155C	DMD_ENST00000378677.2_Missense_Mutation_p.G1151C	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1155					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.G1151C(1)|p.G1150C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTCCAAACCTCCCTTCAAG	0.363																																					p.G1155C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3463T	X						.						119.0	104.0	109.0					X																	32472919		2202	4300	6502	32382840	SO:0001583	missense	1756	exon26			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3463G>T	X.37:g.32472919C>A	ENSP00000354923:p.Gly1155Cys	Somatic		Capture	SOLID	Phase_I	32382840	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962984	0.74016	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.33438	1.41;1.41	5.25	4.38	0.52667	.	0.225359	0.22001	U	0.066012	T	0.52500	0.1738	M	0.65975	2.015	0.80722	D	1	P;D;P	0.89917	0.938;1.0;0.898	P;D;B	0.76575	0.632;0.988;0.428	T	0.53493	-0.8431	10	0.62326	D	0.03	.	12.9984	0.58662	0.0:0.9198:0.0:0.0802	.	1147;1155;1151	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	C	1147;1151;1155;1155;1032	ENSP00000367948:G1151C;ENSP00000354923:G1155C	ENSP00000354923:G1155C	G	-	1	0	DMD	32382840	1.000000	0.71417	0.993000	0.49108	0.921000	0.55340	7.729000	0.84864	0.989000	0.38761	0.594000	0.82650	GGT		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DUSP21	63904	hgsc.bcm.edu	37	X	44703474	44703474	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:44703474C>T	ENST00000339042.4	+	1	226	c.96C>T	c.(94-96)agC>agT	p.S32S		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	32	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S32S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TGTTTCTCAGCAATGGTGTGG	0.527																																					p.S32S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C96T	X						.						105.0	81.0	89.0					X																	44703474		2203	4300	6503	44588418	SO:0001819	synonymous_variant	63904	exon1			AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.96C>T	X.37:g.44703474C>T		Somatic		Capture	SOLID	Phase_I	44588418	NM_022076	Q0VDA6|Q6IAJ6|Q6YDQ8	Silent	SNP	ENST00000339042.4	37	CCDS14264.1																																																																																				0.527	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076	
GATA1	2623	hgsc.bcm.edu	37	X	48650390	48650390	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:48650390C>T	ENST00000376670.3	+	3	471	c.360C>T	c.(358-360)gcC>gcT	p.A120A	GATA1_ENST00000376665.3_Silent_p.A120A	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	120					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)|p.A120A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CTCCCCAGGCCGTGGAAGATC	0.632			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																p.A120A	Pancreas(9;429 505 11287 29617)		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	.	.	3	Unknown(2)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.C360T	X						.						53.0	46.0	49.0					X																	48650390		2203	4300	6503	48535334	SO:0001819	synonymous_variant	2623	exon3			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.360C>T	X.37:g.48650390C>T		Somatic		Capture	SOLID	Phase_I	48535334	NM_002049	Q96GB8	Silent	SNP	ENST00000376670.3	37	CCDS14305.1																																																																																				0.632	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049	
PAGE1	8712	hgsc.bcm.edu	37	X	49454031	49454031	+	Silent	SNP	T	T	C	rs186456038		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:49454031T>C	ENST00000376150.3	-	5	540	c.408A>G	c.(406-408)acA>acG	p.T136T		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	136					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CTTCCTCAGGTGTTTTCACCT	0.468																																					p.T136T												.	.	0			c.A408G	X						.						119.0	107.0	111.0					X																	49454031		2203	4300	6503	49340985	SO:0001819	synonymous_variant	8712	exon5			AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.408A>G	X.37:g.49454031T>C		Somatic		Capture	SOLID	Phase_I	49340985	NM_003785	Q6FGM3|Q9BSS7	Silent	SNP	ENST00000376150.3	37	CCDS14327.1																																																																																				0.468	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1		
CCNB3	85417	hgsc.bcm.edu	37	X	50053171	50053171	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:50053171G>C	ENST00000376042.1	+	6	2300	c.2002G>C	c.(2002-2004)Gag>Cag	p.E668Q	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E668Q|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	668					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GGCTACCACTGAGGAGGAATT	0.473																																					p.E668Q												.	.	0			c.G2002C	X						.						44.0	38.0	40.0					X																	50053171		2203	4300	6503	50069911	SO:0001583	missense	85417	exon5			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2002G>C	X.37:g.50053171G>C	ENSP00000365210:p.Glu668Gln	Somatic		Capture	SOLID	Phase_I	50069911	NM_033031	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335933	0.41398	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.36520	1.25;1.25	3.39	0.609	0.17575	.	.	.	.	.	T	0.34019	0.0883	L	0.50333	1.59	0.09310	N	1	D	0.54207	0.965	P	0.47864	0.559	T	0.15492	-1.0435	8	.	.	.	.	5.3736	0.16152	0.4128:0.0:0.5872:0.0	.	668	Q8WWL7	CCNB3_HUMAN	Q	668	ENSP00000365210:E668Q;ENSP00000276014:E668Q	.	E	+	1	0	CCNB3	50069911	0.000000	0.05858	0.002000	0.10522	0.850000	0.48378	-0.174000	0.09839	0.015000	0.14971	0.529000	0.55759	GAG		0.473	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
CCNB3	85417	hgsc.bcm.edu	37	X	50094337	50094337	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:50094337G>A	ENST00000376042.1	+	12	4356	c.4058G>A	c.(4057-4059)aGt>aAt	p.S1353N	CCNB3_ENST00000276014.7_Missense_Mutation_p.S1353N|CCNB3_ENST00000376038.1_Missense_Mutation_p.S249N|CCNB3_ENST00000348603.2_Missense_Mutation_p.S249N			Q8WWL7	CCNB3_HUMAN	cyclin B3	1353					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.S1353N(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCTTACGATAGTCTCAAGGCT	0.453																																					p.S249N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G746A	X						.						183.0	164.0	170.0					X																	50094337		2203	4300	6503	50111077	SO:0001583	missense	85417	exon7			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.4058G>A	X.37:g.50094337G>A	ENSP00000365210:p.Ser1353Asn	Somatic		Capture	SOLID	Phase_I	50111077	NM_033670	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251573	0.22880	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.08	-5.93	0.02254	Cyclin, C-terminal (1);Cyclin-like (2);	14.801500	0.00166	N	0.000000	T	0.17789	0.0427	N	0.21282	0.65	0.09310	N	1	B;B;B	0.29301	0.241;0.014;0.241	B;B;B	0.36959	0.237;0.018;0.237	T	0.14924	-1.0455	9	.	.	.	.	5.1903	0.15207	0.5939:0.0968:0.2077:0.1016	.	1353;249;1353	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	N	1353;249;249;1353	ENSP00000365210:S1353N;ENSP00000365206:S249N;ENSP00000338682:S249N;ENSP00000276014:S1353N	.	S	+	2	0	CCNB3	50111077	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	-0.185000	0.09684	-1.465000	0.01899	-0.295000	0.09555	AGT		0.453	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
SMC1A	8243	hgsc.bcm.edu	37	X	53432881	53432881	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:53432881C>T	ENST00000322213.4	-	10	1680	c.1553G>A	c.(1552-1554)cGc>cAc	p.R518H	SMC1A_ENST00000375340.6_Missense_Mutation_p.R284H	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	518	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GTCAATGAGGCGGCCGTACTG	0.468																																					p.R518H												.	.	0			c.G1553A	X						.						87.0	77.0	80.0					X																	53432881		2203	4300	6503	53449606	SO:0001583	missense	8243	exon10			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1553G>A	X.37:g.53432881C>T	ENSP00000323421:p.Arg518His	Somatic		Capture	SOLID	Phase_I	53449606	NM_006306	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713582	0.89112	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;T	0.86694	-2.16;3.29	5.55	5.55	0.83447	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.96599	0.9443	10	0.87932	D	0	.	17.4486	0.87586	0.0:1.0:0.0:0.0	.	284;496;518	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	H	518;284	ENSP00000323421:R518H;ENSP00000364489:R284H	ENSP00000323421:R518H	R	-	2	0	SMC1A	53449606	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.736000	0.84948	2.476000	0.83614	0.600000	0.82982	CGC		0.468	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
SMC1A	8243	hgsc.bcm.edu	37	X	53439197	53439197	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:53439197C>T	ENST00000322213.4	-	6	988	c.861G>A	c.(859-861)aaG>aaA	p.K287K	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	287					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.K287K(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ATTCTGAGTCCTTCTCCCTTT	0.527													C|||	1	0.000264901	0.0	0.0	3775	,	,		13078	0.0		0.001	False		,,,				2504	0.0				p.K287K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G861A	X						.						66.0	60.0	62.0					X																	53439197		2203	4300	6503	53455922	SO:0001819	synonymous_variant	8243	exon6			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.861G>A	X.37:g.53439197C>T		Somatic		Capture	SOLID	Phase_I	53455922	NM_006306	O14995|Q16351|Q2M228	Silent	SNP	ENST00000322213.4	37	CCDS14352.1																																																																																				0.527	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
PHF8	23133	hgsc.bcm.edu	37	X	54049273	54049273	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:54049273A>G	ENST00000357988.5	-	3	568	c.210T>C	c.(208-210)tgT>tgC	p.C70C	PHF8_ENST00000338154.6_Silent_p.C34C|PHF8_ENST00000338946.6_Silent_p.C34C|PHF8_ENST00000322659.8_Silent_p.C34C	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	70					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.C34C(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CAACACCAACACAACTGAAAA	0.423																																					p.C34C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T102C	X						.						45.0	35.0	38.0					X																	54049273		2203	4300	6503	54065998	SO:0001819	synonymous_variant	23133	exon3			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.210T>C	X.37:g.54049273A>G		Somatic		Capture	SOLID	Phase_I	54065998	NM_001184898	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	CCDS55420.1																																																																																				0.423	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	
WNK3	65267	hgsc.bcm.edu	37	X	54335608	54335608	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:54335608G>A	ENST00000375159.2	-	3	850	c.851C>T	c.(850-852)aCg>aTg	p.T284M	WNK3_ENST00000354646.2_Missense_Mutation_p.T284M|WNK3_ENST00000375169.3_Missense_Mutation_p.T284M			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	284	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T284M(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AGTGGGTCCCGTGATGAAAAT	0.433																																					p.T284M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C851T	X						.						105.0	82.0	90.0					X																	54335608		2203	4300	6503	54352333	SO:0001583	missense	65267	exon4			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.851C>T	X.37:g.54335608G>A	ENSP00000364301:p.Thr284Met	Somatic		Capture	SOLID	Phase_I	54352333	NM_001002838	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301682	0.81136	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.66099	-0.19;-0.19;-0.19	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000114	T	0.73102	0.3544	L	0.42487	1.325	0.49687	D	0.999812	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76578	-0.2908	10	0.87932	D	0	-7.0139	15.9501	0.79827	0.0:0.0:1.0:0.0	.	284;284	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	M	284	ENSP00000364312:T284M;ENSP00000346667:T284M;ENSP00000364301:T284M	ENSP00000346667:T284M	T	-	2	0	WNK3	54352333	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.700000	0.98707	2.102000	0.63906	0.415000	0.27848	ACG		0.433	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
MED12	9968	hgsc.bcm.edu	37	X	70361098	70361100	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	CAG	CAG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:70361098_70361100delCAG	ENST00000374080.3	+	43	6318_6320	c.6286_6288delCAG	c.(6286-6288)cagdel	p.Q2115del	AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000374102.1_In_Frame_Del_p.Q2114del|MED12_ENST00000333646.6_In_Frame_Del_p.Q2118del			Q93074	MED12_HUMAN	mediator complex subunit 12	2115	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.Q2096delQ(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					gcaacagcaacagcagcagcagc	0.557			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																														p.2096_2096del			Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	.	2	Deletion - In frame(2)	large_intestine(2)	c.6286_6288del	X						.			109,2865		8,79,14,1239,308						-0.5	0.8			13	174,4778		12,93,57,1759,1167	no	coding	MED12	NM_005120.2		20,172,71,2998,1475	A1A1,A1R,A1,RR,R		3.5137,3.6651,3.5705				283,7643				70277825	SO:0001651	inframe_deletion	9968	exon43			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6286_6288delCAG	X.37:g.70361107_70361109delCAG	ENSP00000363193:p.Gln2115del	Somatic		Capture	SOLID	Phase_I	70277823	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	CCDS43970.1																																																																																				0.557	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
ERCC6L	54821	hgsc.bcm.edu	37	X	71425497	71425497	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:71425497G>T	ENST00000334463.3	-	2	3255	c.3120C>A	c.(3118-3120)acC>acA	p.T1040T	ERCC6L_ENST00000373657.1_Silent_p.T917T|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1040					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.T1040T(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTATGCTTGAGGTATCTTTAA	0.363																																					p.T1040T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3120A	X						.						134.0	120.0	125.0					X																	71425497		2203	4300	6503	71342222	SO:0001819	synonymous_variant	54821	exon2			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3120C>A	X.37:g.71425497G>T		Somatic		Capture	SOLID	Phase_I	71342222	NM_017669	Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	37	CCDS35329.1																																																																																				0.363	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669	
PHKA1	5255	hgsc.bcm.edu	37	X	71855008	71855008	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:71855008G>T	ENST00000373542.4	-	16	1870	c.1711C>A	c.(1711-1713)Ctt>Att	p.L571I	PHKA1_ENST00000373545.3_Missense_Mutation_p.L571I|PHKA1_ENST00000541944.1_Missense_Mutation_p.L571I|PHKA1_ENST00000339490.3_Missense_Mutation_p.L571I|PHKA1_ENST00000373539.3_Missense_Mutation_p.L571I	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	571					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.L571I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCCTTACCAAGCATGCTGTGT	0.468																																					p.L571I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1711A	X						.						127.0	101.0	110.0					X																	71855008		2203	4300	6503	71771733	SO:0001583	missense	5255	exon16				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1711C>A	X.37:g.71855008G>T	ENSP00000362643:p.Leu571Ile	Somatic		Capture	SOLID	Phase_I	71771733	NM_001172436	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906440	0.52333	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.92545	-2.99;-3.06;-2.98;-3.02;-3.02	4.47	2.65	0.31530	Glycoside hydrolase 15-related (1);	0.000000	0.64402	D	0.000001	D	0.93664	0.7976	M	0.68728	2.09	0.80722	D	1	D;P;D	0.76494	0.999;0.863;0.988	D;P;D	0.87578	0.998;0.771;0.934	D	0.90071	0.4163	10	0.33141	T	0.24	.	6.3601	0.21422	0.103:0.0:0.7146:0.1824	.	571;571;571	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	I	571	ENSP00000362646:L571I;ENSP00000362643:L571I;ENSP00000441251:L571I;ENSP00000342469:L571I;ENSP00000362640:L571I	ENSP00000342469:L571I	L	-	1	0	PHKA1	71771733	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	7.869000	0.87170	0.279000	0.22186	0.415000	0.27848	CTT		0.468	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		
NAP1L2	4674	hgsc.bcm.edu	37	X	72434109	72434109	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:72434109T>C	ENST00000373517.3	-	1	575	c.220A>G	c.(220-222)Aaa>Gaa	p.K74E	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	74					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.K74E(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CCACCTTTTTTCCCATCTTCC	0.507																																					p.K74E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A220G	X						.						142.0	114.0	124.0					X																	72434109		2203	4300	6503	72350834	SO:0001583	missense	4674	exon1			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.220A>G	X.37:g.72434109T>C	ENSP00000362616:p.Lys74Glu	Somatic		Capture	SOLID	Phase_I	72350834	NM_021963	B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	t	0.754	-0.771721	0.02951	.	.	ENSG00000186462	ENST00000373517	D	0.91068	-2.78	3.17	-1.91	0.07641	.	0.538333	0.17949	N	0.156582	T	0.70098	0.3185	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61549	-0.7040	10	0.05351	T	0.99	-12.655	7.6836	0.28528	0.0:0.4199:0.0:0.5801	.	74	Q9ULW6	NP1L2_HUMAN	E	74	ENSP00000362616:K74E	ENSP00000362616:K74E	K	-	1	0	NAP1L2	72350834	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.049000	0.11924	-0.722000	0.04922	-1.987000	0.00451	AAA		0.507	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963	
PGK1	5230	hgsc.bcm.edu	37	X	77359880	77359880	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:77359880A>G	ENST00000373316.4	+	1	210	c.43A>G	c.(43-45)Aaa>Gaa	p.K15E	PGK1_ENST00000537456.1_5'Flank|PGK1_ENST00000442431.1_Missense_Mutation_p.K15E	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	15					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.K15E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	GCTGGACGTTAAAGGGAAGCG	0.547																																					p.K15E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A43G	X						.						113.0	70.0	85.0					X																	77359880		2203	4296	6499	77246536	SO:0001583	missense	5230	exon1			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.43A>G	X.37:g.77359880A>G	ENSP00000362413:p.Lys15Glu	Somatic		Capture	SOLID	Phase_I	77246536	NM_000291	A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.756983	0.69648	.	.	ENSG00000102144	ENST00000373316;ENST00000442431	D;D	0.92099	-2.97;-2.97	5.06	5.06	0.68205	Phosphoglycerate kinase, N-terminal (1);	0.114641	0.56097	D	0.000025	D	0.89550	0.6747	L	0.55103	1.725	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	D	0.86448	0.1771	10	0.48119	T	0.1	-26.6579	13.0754	0.59083	1.0:0.0:0.0:0.0	.	15	P00558	PGK1_HUMAN	E	15	ENSP00000362413:K15E;ENSP00000405452:K15E	ENSP00000362413:K15E	K	+	1	0	PGK1	77246536	1.000000	0.71417	0.956000	0.39512	0.852000	0.48524	7.876000	0.87215	1.880000	0.54463	0.486000	0.48141	AAA		0.547	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1		
CYLC1	1538	hgsc.bcm.edu	37	X	83141590	83141590	+	Nonstop_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:83141590T>C	ENST00000329312.4	+	5	1991	c.1954T>C	c.(1954-1956)Taa>Caa	p.*652Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	0					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.*651Q(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TAAGCTGCTTTAAAGAACAAC	0.383																																					p.X652Q												.	.	1	Nonstop extension(1)	large_intestine(1)	c.T1954C	X						.						173.0	139.0	150.0					X																	83141590		2203	4299	6502	83028246	SO:0001578	stop_lost	1538	exon5			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1954T>C	X.37:g.83141590T>C	ENSP00000331556:p.*652Glnext*32	Somatic		Capture	SOLID	Phase_I	83028246	NM_021118	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	t	15.19	2.760306	0.49468	.	.	ENSG00000183035	ENST00000329312	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2988	0.32001	0.0:0.0:0.0:1.0	.	.	.	.	Q	652	.	.	X	+	1	0	CYLC1	83028246	1.000000	0.71417	0.951000	0.38953	0.978000	0.69477	2.715000	0.47210	1.777000	0.52277	0.486000	0.48141	TAA		0.383	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118	
DACH2	117154	hgsc.bcm.edu	37	X	85950132	85950132	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:85950132G>T	ENST00000373125.4	+	5	881	c.881G>T	c.(880-882)gGg>gTg	p.G294V	DACH2_ENST00000510272.1_Missense_Mutation_p.G75V|DACH2_ENST00000373131.1_Missense_Mutation_p.G281V|DACH2_ENST00000508860.1_Missense_Mutation_p.G127V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	294					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCAGGCATTGGGGGTGCTCCA	0.498																																					p.G294V												.	.	0			c.G881T	X						.						62.0	46.0	51.0					X																	85950132		2203	4300	6503	85836788	SO:0001583	missense	117154	exon5			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.881G>T	X.37:g.85950132G>T	ENSP00000362217:p.Gly294Val	Somatic		Capture	SOLID	Phase_I	85836788	NM_053281	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	g	5.602	0.295845	0.10622	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.83755	-1.76;-1.76	4.99	3.15	0.36227	.	0.084811	0.49305	D	0.000143	T	0.78916	0.4359	L	0.43152	1.355	0.53688	D	0.999975	P;B;B	0.50617	0.937;0.452;0.179	P;B;B	0.46110	0.504;0.104;0.047	T	0.73493	-0.3965	10	0.29301	T	0.29	.	12.9097	0.58173	0.0:0.3031:0.6969:0.0	.	160;281;294	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	V	294;281;294;127;75;127	ENSP00000362223:G281V;ENSP00000362217:G294V	ENSP00000345134:G294V	G	+	2	0	DACH2	85836788	1.000000	0.71417	0.139000	0.22197	0.003000	0.03518	6.506000	0.73712	0.321000	0.23259	-0.367000	0.07326	GGG		0.498	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	
TKTL1	8277	hgsc.bcm.edu	37	X	153543571	153543571	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chrX:153543571G>A	ENST00000369915.3	+	7	1102	c.913G>A	c.(913-915)Gcg>Acg	p.A305T	TKTL1_ENST00000217905.7_Missense_Mutation_p.A45T|TKTL1_ENST00000369912.2_Missense_Mutation_p.A249T	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	305					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.A305T(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGGGCTACGCGAACAACAG	0.473																																					p.A299T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G895A	X						.						188.0	149.0	162.0					X																	153543571		2203	4300	6503	153196765	SO:0001583	missense	8277	exon7			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.913G>A	X.37:g.153543571G>A	ENSP00000358931:p.Ala305Thr	Somatic		Capture	SOLID	Phase_I	153196765	NM_001145933	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	8.681	0.905122	0.17760	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	D;D;D	0.91521	-2.86;-2.86;-2.86	4.1	3.23	0.37069	Transketolase-like, pyrimidine-binding domain (2);	0.287456	0.37577	N	0.002036	D	0.83580	0.5285	L	0.48362	1.52	0.39846	D	0.973174	B;P;P	0.44946	0.102;0.846;0.846	B;B;B	0.36608	0.018;0.229;0.229	T	0.79169	-0.1914	10	0.19590	T	0.45	-2.3039	9.996	0.41900	0.1054:0.0:0.8946:0.0	.	45;299;305	B7Z7M4;B7Z7I0;P51854	.;.;TKTL1_HUMAN	T	305;249;45;249	ENSP00000358931:A305T;ENSP00000217905:A45T;ENSP00000358928:A249T	ENSP00000217905:A45T	A	+	1	0	TKTL1	153196765	0.071000	0.21146	0.065000	0.19835	0.004000	0.04260	2.404000	0.44539	0.755000	0.32990	0.292000	0.19580	GCG		0.473	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253	
LONRF2	164832	hgsc.bcm.edu	37	2	100906853	100906853	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:100906853A>G	ENST00000393437.3	-	10	2426	c.1787T>C	c.(1786-1788)aTt>aCt	p.I596T	LONRF2_ENST00000409647.1_Missense_Mutation_p.I353T	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	596	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.I596T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CACGTCCTTAATCTCCAGCAT	0.468																																					p.I596T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1787C	2						.						127.0	115.0	119.0					2																	100906853		2203	4300	6503	100273285	SO:0001583	missense	164832	exon10			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1787T>C	2.37:g.100906853A>G	ENSP00000377086:p.Ile596Thr	Somatic		Capture	SOLID	Phase_I	100273285	NM_198461	B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	A	17.89	3.498788	0.64298	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.67345	-0.26;-0.26	4.89	3.72	0.42706	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.142496	0.48286	D	0.000191	D	0.84247	0.5430	M	0.92122	3.275	0.45899	D	0.998741	D	0.89917	1.0	D	0.80764	0.994	D	0.86277	0.1665	10	0.87932	D	0	-5.8734	11.815	0.52204	0.8532:0.1468:0.0:0.0	.	596	Q1L5Z9	LONF2_HUMAN	T	596;353	ENSP00000377086:I596T;ENSP00000386823:I353T	ENSP00000377086:I596T	I	-	2	0	LONRF2	100273285	1.000000	0.71417	0.624000	0.29186	0.579000	0.36224	5.959000	0.70339	0.693000	0.31634	0.533000	0.62120	ATT		0.468	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461	
NMS	129521	hgsc.bcm.edu	37	2	101086964	101086964	+	Missense_Mutation	SNP	G	G	A	rs183314287		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:101086964G>A	ENST00000376865.1	+	1	21	c.14G>A	c.(13-15)cGt>cAt	p.R5H		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	5					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.R5H(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						AAACATCTTCGTCCCCAGTTC	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18099	0.0		0.0	False		,,,				2504	0.0				p.R5H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G14A	2						.						392.0	338.0	356.0					2																	101086964		2203	4300	6503	100453396	SO:0001583	missense	129521	exon1			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.14G>A	2.37:g.101086964G>A	ENSP00000366061:p.Arg5His	Somatic		Capture	SOLID	Phase_I	100453396	NM_001011717		Missense_Mutation	SNP	ENST00000376865.1	37	CCDS33259.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	3.790	-0.043962	0.07452	.	.	ENSG00000204640	ENST00000376865	T	0.35421	1.31	4.33	-2.07	0.07276	.	1.134200	0.06877	N	0.801753	T	0.12050	0.0293	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18777	-1.0326	10	0.52906	T	0.07	-1.1868	0.8829	0.01238	0.1614:0.298:0.1738:0.3668	.	5	Q5H8A3	NMS_HUMAN	H	5	ENSP00000366061:R5H	ENSP00000366061:R5H	R	+	2	0	NMS	100453396	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.421000	0.07053	-0.234000	0.09782	-1.072000	0.02254	CGT		0.547	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717	
ODC1	4953	hgsc.bcm.edu	37	2	10584375	10584375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:10584375G>A	ENST00000234111.4	-	5	805	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	ODC1_ENST00000446285.1_5'UTR|ODC1_ENST00000405333.1_Nonsense_Mutation_p.Q99*|SNORA80B_ENST00000383906.1_RNA	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	99					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)	p.Q99*(1)		NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	CCCAGACTCTGCACCAACTGT	0.408																																					p.Q99X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C295T	2						.						103.0	110.0	108.0					2																	10584375		2203	4300	6503	10501826	SO:0001587	stop_gained	4953	exon5				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.295C>T	2.37:g.10584375G>A	ENSP00000234111:p.Gln99*	Somatic		Capture	SOLID	Phase_I	10501826	NM_002539	Q53TU3|Q6LDS9	Nonsense_Mutation	SNP	ENST00000234111.4	37	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	G	41	8.647323	0.98899	.	.	ENSG00000115758	ENST00000234111;ENST00000405333	.	.	.	5.28	5.28	0.74379	.	0.050938	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9102	0.92481	0.0:0.0:1.0:0.0	.	.	.	.	X	99	.	ENSP00000234111:Q99X	Q	-	1	0	ODC1	10501826	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	6.593000	0.74100	2.461000	0.83175	0.591000	0.81541	CAG		0.408	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2		
IL18R1	8809	hgsc.bcm.edu	37	2	102988423	102988423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:102988423C>T	ENST00000409599.1	+	5	669	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	IL18R1_ENST00000334376.3_Nonsense_Mutation_p.Q105*|IL18R1_ENST00000233957.1_Nonsense_Mutation_p.Q105*			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	105	Ig-like C2-type 1.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AAATTATACTCAGAAATGGAA	0.279																																					p.Q105X												.	.	0			c.C313T	2						.						22.0	23.0	23.0					2																	102988423		2192	4283	6475	102354855	SO:0001587	stop_gained	8809	exon3			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.313C>T	2.37:g.102988423C>T	ENSP00000387211:p.Gln105*	Somatic		Capture	SOLID	Phase_I	102354855	NM_003855	B2R9Y5|Q52LC9	Nonsense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284413	0.80803	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957;ENST00000334376	.	.	.	5.15	-4.28	0.03732	.	1.750340	0.02748	N	0.117095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	3.9856	0.09514	0.3841:0.1988:0.0:0.4171	.	.	.	.	X	105	.	ENSP00000233957:Q105X	Q	+	1	0	IL18R1	102354855	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.959000	0.01518	-0.501000	0.06605	0.561000	0.74099	CAG		0.279	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855	
TGFBRAP1	9392	hgsc.bcm.edu	37	2	105924689	105924689	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:105924689G>A	ENST00000393359.2	-	2	496	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.R24C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	24	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.R24C(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ATGTTGACGCGCTCCTTGTCG	0.572																																					p.R24C	Esophageal Squamous(183;794 2019 9730 21801 48859)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C70T	2						.						46.0	44.0	45.0					2																	105924689		2203	4300	6503	105291121	SO:0001583	missense	9392	exon2			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.70C>T	2.37:g.105924689G>A	ENSP00000377027:p.Arg24Cys	Somatic		Capture	SOLID	Phase_I	105291121	NM_004257	A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358041	0.24598	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.46819	0.86;0.86	4.82	2.06	0.26882	Citron-like (1);	0.373141	0.31601	N	0.007376	T	0.39064	0.1064	L	0.47716	1.5	0.09310	N	1	D	0.60160	0.987	B	0.42653	0.394	T	0.31138	-0.9954	10	0.62326	D	0.03	-10.6517	9.8764	0.41207	0.2602:0.0:0.7398:0.0	.	24	Q8WUH2	TGFA1_HUMAN	C	24	ENSP00000377027:R24C;ENSP00000258449:R24C	ENSP00000258449:R24C	R	-	1	0	TGFBRAP1	105291121	0.999000	0.42202	0.003000	0.11579	0.046000	0.14306	4.037000	0.57311	0.343000	0.23821	-0.140000	0.14226	CGC		0.572	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257	
TTL	150465	hgsc.bcm.edu	37	2	113251854	113251854	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:113251854G>T	ENST00000233336.6	+	3	562	c.371G>T	c.(370-372)aGg>aTg	p.R124M		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	124	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)	p.R124M(1)		breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGTAACTCAAGGACAGATGAA	0.443			T	ETV6	ALL																																p.R124M			Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371T	2						.						70.0	68.0	69.0					2																	113251854		2203	4300	6503	112968325	SO:0001583	missense	150465	exon3				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.371G>T	2.37:g.113251854G>T	ENSP00000233336:p.Arg124Met	Somatic		Capture	SOLID	Phase_I	112968325	NM_153712	Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	ENST00000233336.6	37	CCDS2096.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265595	0.80358	.	.	ENSG00000114999	ENST00000233336	T	0.06449	3.3	5.67	5.67	0.87782	.	0.108914	0.64402	D	0.000006	T	0.18425	0.0442	L	0.48642	1.525	0.52501	D	0.999958	D	0.55385	0.971	P	0.60345	0.873	T	0.00014	-1.2406	10	0.56958	D	0.05	.	18.9077	0.92469	0.0:0.0:1.0:0.0	.	124	Q8NG68	TTL_HUMAN	M	124	ENSP00000233336:R124M	ENSP00000233336:R124M	R	+	2	0	TTL	112968325	1.000000	0.71417	0.986000	0.45419	0.961000	0.63080	7.064000	0.76721	2.838000	0.97847	0.561000	0.74099	AGG		0.443	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712	
GREB1	9687	hgsc.bcm.edu	37	2	11728976	11728976	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:11728976G>A	ENST00000381486.2	+	10	1564	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	GREB1_ENST00000234142.5_Missense_Mutation_p.E422K|GREB1_ENST00000381483.2_Missense_Mutation_p.E422K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	422						integral component of membrane (GO:0016021)		p.E422K(2)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGGGCATACGAGCAGTACGG	0.587																																					p.E422K	Ovarian(39;850 945 2785 23371 33093)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1264A	2						.						185.0	143.0	157.0					2																	11728976		2203	4300	6503	11646427	SO:0001583	missense	9687	exon10				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1264G>A	2.37:g.11728976G>A	ENSP00000370896:p.Glu422Lys	Somatic		Capture	SOLID	Phase_I	11646427	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168637	0.78339	.	.	ENSG00000196208	ENST00000381486;ENST00000381483;ENST00000234142;ENST00000432985	T;T;T;T	0.50813	3.06;1.96;3.06;0.73	4.95	4.95	0.65309	.	0.071470	0.56097	D	0.000024	T	0.68915	0.3053	M	0.69823	2.125	0.58432	D	0.999999	P;D;D	0.89917	0.912;1.0;0.999	B;D;P	0.80764	0.285;0.994;0.885	T	0.73154	-0.4072	10	0.72032	D	0.01	-14.1867	18.2052	0.89852	0.0:0.0:1.0:0.0	.	56;422;422	C9JIG0;Q4ZG55-2;Q4ZG55	.;.;GREB1_HUMAN	K	422;422;422;56	ENSP00000370896:E422K;ENSP00000370892:E422K;ENSP00000234142:E422K;ENSP00000403886:E56K	ENSP00000234142:E422K	E	+	1	0	GREB1	11646427	1.000000	0.71417	0.387000	0.26183	0.386000	0.30323	7.223000	0.78033	2.283000	0.76528	0.650000	0.86243	GAG		0.587	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
SLC20A1	6574	hgsc.bcm.edu	37	2	113416940	113416940	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:113416940G>A	ENST00000272542.3	+	8	1747	c.1208G>A	c.(1207-1209)tGc>tAc	p.C403Y		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	403					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.C403Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTGGGAGATTGCATGGGAGAC	0.468																																					p.C403Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1208A	2						.						128.0	120.0	123.0					2																	113416940		2203	4300	6503	113133411	SO:0001583	missense	6574	exon8				CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1208G>A	2.37:g.113416940G>A	ENSP00000272542:p.Cys403Tyr	Somatic		Capture	SOLID	Phase_I	113133411	NM_005415	Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057116	0.76074	.	.	ENSG00000144136	ENST00000272542;ENST00000409095	D	0.90504	-2.68	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.93903	0.8049	M	0.62723	1.935	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.66196	0.942;0.942	D	0.93456	0.6806	10	0.45353	T	0.12	-19.8407	16.5206	0.84315	0.0:0.0:1.0:0.0	.	403;403	A7LNJ1;Q8WUM9	.;S20A1_HUMAN	Y	403;215	ENSP00000272542:C403Y	ENSP00000272542:C403Y	C	+	2	0	SLC20A1	113133411	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.517000	0.84864	0.655000	0.94253	TGC		0.468	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415	
TFCP2L1	29842	hgsc.bcm.edu	37	2	121992798	121992798	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:121992798G>A	ENST00000263707.5	-	11	1190	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	365					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R365W(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					AACACCTACCGGCCTTTGATG	0.567																																					p.R365W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1093T	2						.						83.0	76.0	78.0					2																	121992798		2203	4300	6503	121709268	SO:0001630	splice_region_variant	29842	exon11			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.1094+1C>T	2.37:g.121992798G>A		Somatic		Capture	SOLID	Phase_I	121709268	NM_014553	Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235438	0.79800	.	.	ENSG00000115112	ENST00000263707	T	0.26373	1.74	5.7	1.96	0.26148	Sterile alpha motif/pointed domain (1);	0.046380	0.85682	D	0.000000	T	0.51363	0.1670	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55755	-0.8091	10	0.87932	D	0	.	13.9427	0.64066	0.0:0.0:0.4394:0.5606	.	365	Q9NZI6	TF2L1_HUMAN	W	365	ENSP00000263707:R365W	ENSP00000263707:R365W	R	-	1	2	TFCP2L1	121709268	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	4.277000	0.58939	0.083000	0.17047	-0.274000	0.10170	CGG		0.567	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553	Missense_Mutation
GPR148	344561	hgsc.bcm.edu	37	2	131486792	131486792	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:131486792G>A	ENST00000309926.4	+	1	150	c.68G>A	c.(67-69)aGc>aAc	p.S23N		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S23N(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CAGCTCATCAGCAAGACACCC	0.617																																					p.S23N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G68A	2						.						97.0	95.0	95.0					2																	131486792		2203	4300	6503	131203262	SO:0001583	missense	344561	exon1			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.68G>A	2.37:g.131486792G>A	ENSP00000308908:p.Ser23Asn	Somatic		Capture	SOLID	Phase_I	131203262	NM_207364	Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	1.766	-0.485469	0.04352	.	.	ENSG00000173302	ENST00000309926	T	0.08370	3.1	2.41	1.51	0.23008	.	0.792485	0.10470	N	0.670957	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.42599	-0.9442	10	0.34782	T	0.22	-3.4722	4.9326	0.13925	0.1753:0.0:0.8247:0.0	.	23	Q8TDV2	GP148_HUMAN	N	23	ENSP00000308908:S23N	ENSP00000308908:S23N	S	+	2	0	GPR148	131203262	0.002000	0.14202	0.001000	0.08648	0.099000	0.18886	0.997000	0.29731	0.582000	0.29556	0.462000	0.41574	AGC		0.617	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092	
LCT	3938	hgsc.bcm.edu	37	2	136566183	136566183	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:136566183A>G	ENST00000264162.2	-	8	3744	c.3734T>C	c.(3733-3735)aTg>aCg	p.M1245T	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1245	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.M1245T(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGCTCTGTTCATTGCCGTGGA	0.572																																					p.M1245T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3734C	2						.						155.0	128.0	138.0					2																	136566183		2203	4300	6503	136282653	SO:0001583	missense	3938	exon8			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3734T>C	2.37:g.136566183A>G	ENSP00000264162:p.Met1245Thr	Somatic		Capture	SOLID	Phase_I	136282653	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	A	0.067	-1.210512	0.01555	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.51071	0.72	5.76	3.33	0.38152	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.917211	0.09635	N	0.775766	T	0.38026	0.1025	N	0.25485	0.75	0.09310	N	1	B	0.20671	0.047	B	0.29524	0.103	T	0.39210	-0.9625	10	0.59425	D	0.04	-0.3309	8.3581	0.32342	0.7984:0.1332:0.0684:0.0	.	1245	P09848	LPH_HUMAN	T	1245;677	ENSP00000264162:M1245T	ENSP00000264162:M1245T	M	-	2	0	LCT	136282653	0.261000	0.24063	0.002000	0.10522	0.032000	0.12392	4.513000	0.60476	0.418000	0.25898	0.460000	0.39030	ATG		0.572	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LRP1B	53353	hgsc.bcm.edu	37	2	141093185	141093185	+	Splice_Site	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:141093185C>A	ENST00000389484.3	-	78	13086	c.12115G>T	c.(12115-12117)Ggg>Tgg	p.G4039W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4039					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G4039W(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTAACCTACCCTCTTTTAGGA	0.373										TSP Lung(27;0.18)																											p.G4039W	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12115T	2						.						89.0	93.0	92.0					2																	141093185		2203	4300	6503	140809655	SO:0001630	splice_region_variant	53353	exon78			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12116+1G>T	2.37:g.141093185C>A		Somatic		Capture	SOLID	Phase_I	140809655	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.94|14.94	2.685801|2.685801	0.47991|0.47991	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.94758	.|-3.51	5.49|5.49	3.7|3.7	0.42460|0.42460	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.137977	.|0.48767	.|D	.|0.000174	D|D	0.97773|0.97773	0.9269|0.9269	H|H	0.95437|0.95437	3.67|3.67	0.44816|0.44816	D|D	0.997828|0.997828	.|D	.|0.71674	.|0.998	.|D	.|0.71870	.|0.975	D|D	0.97910|0.97910	1.0308|1.0308	5|10	.|0.87932	.|D	.|0	.|.	12.2267|12.2267	0.54463|0.54463	0.0:0.8614:0.0:0.1386|0.0:0.8614:0.0:0.1386	.|.	.|4039	.|Q9NZR2	.|LRP1B_HUMAN	D|W	270|4039;3977	.|ENSP00000374135:G4039W	.|ENSP00000374135:G4039W	E|G	-|-	3|1	2|0	LRP1B|LRP1B	140809655|140809655	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.570000|0.570000	0.35934|0.35934	5.642000|5.642000	0.67888|0.67888	0.799000|0.799000	0.34018|0.34018	0.585000|0.585000	0.79938|0.79938	GAG|GGG		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation
LRP1B	53353	hgsc.bcm.edu	37	2	141259287	141259287	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:141259287T>C	ENST00000389484.3	-	55	9790	c.8819A>G	c.(8818-8820)cAa>cGa	p.Q2940R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2940	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.Q2940R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGACAGTCTTGAGAACATCC	0.388										TSP Lung(27;0.18)																											p.Q2940R	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8819G	2						.						114.0	118.0	117.0					2																	141259287		2203	4300	6503	140975757	SO:0001583	missense	53353	exon55			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8819A>G	2.37:g.141259287T>C	ENSP00000374135:p.Gln2940Arg	Somatic		Capture	SOLID	Phase_I	140975757	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.783978	0.70222	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91068	-2.78	5.41	5.41	0.78517	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.000000	0.64402	U	0.000001	D	0.93949	0.8063	L	0.58810	1.83	0.54753	D	0.999988	D	0.63880	0.993	D	0.70227	0.968	D	0.94423	0.7642	10	0.66056	D	0.02	.	15.729	0.77788	0.0:0.0:0.0:1.0	.	2940	Q9NZR2	LRP1B_HUMAN	R	2940;2878	ENSP00000374135:Q2940R	ENSP00000374135:Q2940R	Q	-	2	0	LRP1B	140975757	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.949000	0.87791	2.183000	0.69458	0.477000	0.44152	CAA		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	hgsc.bcm.edu	37	2	141294250	141294250	+	Silent	SNP	C	C	A	rs16844179	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:141294250C>A	ENST00000389484.3	-	46	8513	c.7542G>T	c.(7540-7542)tcG>tcT	p.S2514S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2514	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S2514S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTCAAACTCCGAATAAGCGT	0.363										TSP Lung(27;0.18)																											p.S2514S	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7542T	2						.						92.0	87.0	89.0					2																	141294250		2203	4300	6503	141010720	SO:0001819	synonymous_variant	53353	exon46			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7542G>T	2.37:g.141294250C>A		Somatic		Capture	SOLID	Phase_I	141010720	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	hgsc.bcm.edu	37	2	141458171	141458171	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:141458171C>A	ENST00000389484.3	-	41	7418	c.6447G>T	c.(6445-6447)agG>agT	p.R2149S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2149	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R2149S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACCATTGTCCCTGGCACAAA	0.388										TSP Lung(27;0.18)																											p.R2149S	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6447T	2						.						119.0	117.0	118.0					2																	141458171		2203	4300	6503	141174641	SO:0001583	missense	53353	exon41			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6447G>T	2.37:g.141458171C>A	ENSP00000374135:p.Arg2149Ser	Somatic		Capture	SOLID	Phase_I	141174641	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	6.243	0.413017	0.11812	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95205	-3.64	4.47	0.52	0.17040	Six-bladed beta-propeller, TolB-like (1);Epidermal growth factor-like (1);	0.137618	0.47093	U	0.000245	D	0.82912	0.5140	N	0.05592	-0.015	0.32885	D	0.511138	B	0.09022	0.002	B	0.08055	0.003	T	0.72297	-0.4335	10	0.08599	T	0.76	.	8.4986	0.33144	0.0:0.67:0.0:0.33	.	2149	Q9NZR2	LRP1B_HUMAN	S	2149;2087	ENSP00000374135:R2149S	ENSP00000374135:R2149S	R	-	3	2	LRP1B	141174641	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	1.262000	0.32992	-0.140000	0.11394	0.585000	0.79938	AGG		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	hgsc.bcm.edu	37	2	141598608	141598608	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:141598608A>G	ENST00000389484.3	-	30	5964	c.4993T>C	c.(4993-4995)Tgg>Cgg	p.W1665R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1665					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.W1665R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGCTAATCCAGTATAAATTA	0.373										TSP Lung(27;0.18)																											p.W1665R	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4993C	2						.						137.0	126.0	130.0					2																	141598608		2203	4300	6503	141315078	SO:0001583	missense	53353	exon30			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4993T>C	2.37:g.141598608A>G	ENSP00000374135:p.Trp1665Arg	Somatic		Capture	SOLID	Phase_I	141315078	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244810	0.79912	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91464	-2.85	5.44	5.44	0.79542	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.96762	0.8943	H	0.95043	3.615	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	D	0.97974	1.0345	10	0.87932	D	0	.	15.4912	0.75607	1.0:0.0:0.0:0.0	.	1665	Q9NZR2	LRP1B_HUMAN	R	1665;1603	ENSP00000374135:W1665R	ENSP00000374135:W1665R	W	-	1	0	LRP1B	141315078	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.230000	0.95299	2.072000	0.62099	0.377000	0.23210	TGG		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	hgsc.bcm.edu	37	2	141806670	141806670	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:141806670A>G	ENST00000389484.3	-	11	2645	c.1674T>C	c.(1672-1674)ccT>ccC	p.P558P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	558					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.P558P(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTAAAGCACGAGGGTTTACCA	0.428										TSP Lung(27;0.18)																											p.P558P	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1674C	2						.						200.0	193.0	195.0					2																	141806670		2203	4300	6503	141523140	SO:0001819	synonymous_variant	53353	exon11			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1674T>C	2.37:g.141806670A>G		Somatic		Capture	SOLID	Phase_I	141523140	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
GTDC1	79712	hgsc.bcm.edu	37	2	144704689	144704689	+	Missense_Mutation	SNP	G	G	A	rs140940814	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:144704689G>A	ENST00000392869.2	-	11	1459	c.1307C>T	c.(1306-1308)cCg>cTg	p.P436L	GTDC1_ENST00000344850.4_Missense_Mutation_p.P436L|GTDC1_ENST00000392867.3_Missense_Mutation_p.P351L|GTDC1_ENST00000409214.1_Missense_Mutation_p.P436L|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000542155.1_Missense_Mutation_p.P436L|GTDC1_ENST00000241391.5_Missense_Mutation_p.P351L|GTDC1_ENST00000409298.1_Missense_Mutation_p.P318L|GTDC1_ENST00000463875.2_Missense_Mutation_p.P307L	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	436					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)	p.P436L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CCAAGAAAACGGAGCGATTTC	0.433													G|||	6	0.00119808	0.0023	0.0	5008	,	,		20337	0.0		0.002	False		,,,				2504	0.001				p.P436L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1307T	2						.	G	LEU/PRO,LEU/PRO,LEU/PRO	5,4401	11.4+/-27.6	0,5,2198	70.0	69.0	70.0		1307,1307,1052	4.1	1.0	2	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	GTDC1	NM_001006636.3,NM_001164629.2,NM_024659.4	98,98,98	0,7,6496	AA,AG,GG		0.0233,0.1135,0.0538	benign,benign,benign	436/459,436/459,351/374	144704689	7,12999	2203	4300	6503	144421159	SO:0001583	missense	79712	exon12			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.1307C>T	2.37:g.144704689G>A	ENSP00000376608:p.Pro436Leu	Somatic		Capture	SOLID	Phase_I	144421159	NM_001164629	A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	CCDS33300.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	0	0.0	2	0.002638522427440633	G	7.895	0.733201	0.15574	0.001135	2.33E-4	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T;T	0.78126	0.97;0.97;0.97;-1.15;0.97;0.97;0.97;0.96	5.96	4.12	0.48240	.	0.412177	0.27349	N	0.019770	T	0.65760	0.2722	N	0.22421	0.69	0.40201	D	0.977519	P;P;P;D	0.60160	0.816;0.816;0.512;0.987	B;B;B;B	0.41646	0.25;0.21;0.097;0.362	T	0.69924	-0.5013	10	0.42905	T	0.14	-6.6186	14.9645	0.71182	0.0:0.5488:0.4512:0.0	.	436;351;318;436	G1UFN1;Q4AE62-2;B8ZZ45;Q4AE62	.;.;.;GTDC1_HUMAN	L	436;436;351;318;436;351;436;307	ENSP00000376608:P436L;ENSP00000386581:P436L;ENSP00000376606:P351L;ENSP00000386691:P318L;ENSP00000438323:P436L;ENSP00000241391:P351L;ENSP00000339750:P436L;ENSP00000437964:P307L	ENSP00000241391:P351L	P	-	2	0	GTDC1	144421159	0.939000	0.31865	1.000000	0.80357	0.830000	0.47004	1.080000	0.30779	1.525000	0.49052	-0.150000	0.13652	CCG		0.433	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659	
RIF1	55183	hgsc.bcm.edu	37	2	152276753	152276753	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:152276753G>A	ENST00000243326.5	+	6	1036	c.553G>A	c.(553-555)Gca>Aca	p.A185T	RIF1_ENST00000430328.2_Missense_Mutation_p.A185T|RIF1_ENST00000433166.2_Missense_Mutation_p.A185T|RIF1_ENST00000444746.2_Missense_Mutation_p.A185T|RIF1_ENST00000428287.2_Missense_Mutation_p.A185T|RIF1_ENST00000453091.2_Missense_Mutation_p.A185T			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.A185T(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGTGAGGTGGGCAAAACTGGT	0.418																																					p.A185T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G553A	2						.						124.0	106.0	112.0					2																	152276753		2203	4300	6503	151984999	SO:0001583	missense	55183	exon7			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.553G>A	2.37:g.152276753G>A	ENSP00000243326:p.Ala185Thr	Somatic		Capture	SOLID	Phase_I	151984999	NM_001177664	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.949512|4.949512	0.92660|0.92660	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T;T|.	0.65178|.	-0.14;-0.14;-0.14;0.75;-0.14;-0.14|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Armadillo-type fold (1);|.	0.105274|.	0.64402|.	D|.	0.000005|.	T|T	0.50120|0.50120	0.1597|0.1597	N|N	0.19112|0.19112	0.55|0.55	0.52501|0.52501	D|D	0.999951|0.999951	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.77004|.	0.989;0.974|.	T|T	0.42430|0.42430	-0.9452|-0.9452	10|5	0.66056|.	D|.	0.02|.	-18.4173|-18.4173	14.246|14.246	0.65988|0.65988	0.0:0.0:0.8508:0.1492|0.0:0.0:0.8508:0.1492	.|.	185;185|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	T|D	185|176	ENSP00000390181:A185T;ENSP00000414615:A185T;ENSP00000415691:A185T;ENSP00000396865:A185T;ENSP00000243326:A185T;ENSP00000416123:A185T|.	ENSP00000243326:A185T|.	A|G	+|+	1|2	0|0	RIF1|RIF1	151984999|151984999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.940000|5.940000	0.70187|0.70187	2.751000|2.751000	0.94390|0.94390	0.555000|0.555000	0.69702|0.69702	GCA|GGC		0.418	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
CCDC148	130940	hgsc.bcm.edu	37	2	159166002	159166002	+	Silent	SNP	G	G	A	rs202026459		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:159166002G>A	ENST00000283233.5	-	9	1366	c.1053C>T	c.(1051-1053)agC>agT	p.S351S	CCDC148_ENST00000409187.1_Silent_p.S360S|CCDC148_ENST00000536771.1_Silent_p.S265S	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	351								p.S351S(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TAGCCAACATGCTCTCCATTT	0.383																																					p.S351S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1053T	2						.						153.0	140.0	144.0					2																	159166002		2203	4300	6503	158874248	SO:0001819	synonymous_variant	130940	exon9				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1053C>T	2.37:g.159166002G>A		Somatic		Capture	SOLID	Phase_I	158874248	NM_138803	F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Silent	SNP	ENST00000283233.5	37	CCDS33304.1																																																																																				0.383	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803	
PLA2R1	22925	hgsc.bcm.edu	37	2	160869814	160869814	+	Missense_Mutation	SNP	C	C	T	rs530179642		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:160869814C>T	ENST00000283243.7	-	10	1830	c.1624G>A	c.(1624-1626)Ggt>Agt	p.G542S	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G542S	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	542	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.G542S(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CAGTAATAACCGCTGGAAGCT	0.388																																					p.G542S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1624A	2						.						123.0	121.0	121.0					2																	160869814		2203	4300	6503	160578060	SO:0001583	missense	22925	exon10			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1624G>A	2.37:g.160869814C>T	ENSP00000283243:p.Gly542Ser	Somatic		Capture	SOLID	Phase_I	160578060	NM_007366	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203806	0.95033	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.06768	3.3;3.26	5.26	5.26	0.73747	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.85682	D	0.000000	T	0.28665	0.0710	M	0.71036	2.16	0.58432	D	0.999998	P;D;D	0.89917	0.635;1.0;1.0	B;D;D	0.97110	0.36;1.0;1.0	T	0.01397	-1.1365	10	0.22109	T	0.4	.	19.2342	0.93851	0.0:1.0:0.0:0.0	.	542;542;542	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	S	542	ENSP00000283243:G542S;ENSP00000376524:G542S	ENSP00000283243:G542S	G	-	1	0	PLA2R1	160578060	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.274000	0.65569	2.608000	0.88229	0.650000	0.86243	GGT		0.388	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
PLA2R1	22925	hgsc.bcm.edu	37	2	160884842	160884842	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:160884842T>C	ENST00000283243.7	-	6	1192	c.986A>G	c.(985-987)cAc>cGc	p.H329R	PLA2R1_ENST00000392771.1_Missense_Mutation_p.H329R	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	329	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.H329R(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGTTCCACAGTGATCTTCAAC	0.333																																					p.H329R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A986G	2						.						75.0	81.0	79.0					2																	160884842		2203	4300	6503	160593088	SO:0001583	missense	22925	exon6			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.986A>G	2.37:g.160884842T>C	ENSP00000283243:p.His329Arg	Somatic		Capture	SOLID	Phase_I	160593088	NM_007366	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.448556	0.43429	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.16597	2.33;2.33	5.8	3.4	0.38934	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.237731	0.43260	N	0.000584	T	0.31765	0.0807	M	0.64260	1.97	0.45541	D	0.998496	P;D;D	0.89917	0.951;0.999;1.0	P;D;D	0.74674	0.707;0.974;0.984	T	0.02860	-1.1101	10	0.28530	T	0.3	.	7.1803	0.25768	0.0:0.0771:0.1472:0.7757	.	329;329;329	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	R	329	ENSP00000283243:H329R;ENSP00000376524:H329R	ENSP00000283243:H329R	H	-	2	0	PLA2R1	160593088	0.999000	0.42202	0.999000	0.59377	0.788000	0.44548	0.745000	0.26259	0.457000	0.26962	-0.316000	0.08728	CAC		0.333	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
LRP2	4036	hgsc.bcm.edu	37	2	170101380	170101380	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:170101380G>A	ENST00000263816.3	-	22	3538	c.3253C>T	c.(3253-3255)Cgc>Tgc	p.R1085C	LRP2_ENST00000443831.1_Missense_Mutation_p.R948C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1085	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R1085C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTGTCACAGCGCCAGTGTGCA	0.502																																					p.R1085C												LRP2,central_nervous_system,brain,Substitution - Missense,+1	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3253T	2						.						204.0	162.0	176.0					2																	170101380		2203	4300	6503	169809626	SO:0001583	missense	4036	exon22				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3253C>T	2.37:g.170101380G>A	ENSP00000263816:p.Arg1085Cys	Somatic		Capture	SOLID	Phase_I	169809626	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653472	0.47362	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95980	-3.87;-3.87	6.06	5.18	0.71444	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.220504	0.48767	D	0.000177	D	0.96549	0.8874	H	0.94542	3.55	0.80722	D	1	B;B	0.16166	0.016;0.004	B;B	0.20955	0.032;0.013	D	0.95033	0.8171	10	0.36615	T	0.2	.	16.7222	0.85413	0.0:0.0:0.8695:0.1305	.	948;1085	E9PC35;P98164	.;LRP2_HUMAN	C	1085;948	ENSP00000263816:R1085C;ENSP00000409813:R948C	ENSP00000263816:R1085C	R	-	1	0	LRP2	169809626	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	5.614000	0.67695	1.546000	0.49388	0.650000	0.86243	CGC		0.502	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	hgsc.bcm.edu	37	2	170145571	170145571	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:170145571T>G	ENST00000263816.3	-	9	1292	c.1007A>C	c.(1006-1008)tAt>tCt	p.Y336S	LRP2_ENST00000443831.1_Missense_Mutation_p.Y336S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	336	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.Y336S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTTGATGATATAACCTGGGGG	0.507																																					p.Y336S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1007C	2						.						108.0	107.0	107.0					2																	170145571		2203	4300	6503	169853817	SO:0001583	missense	4036	exon9				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1007A>C	2.37:g.170145571T>G	ENSP00000263816:p.Tyr336Ser	Somatic		Capture	SOLID	Phase_I	169853817	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	8.050	0.765740	0.15983	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.90133	-2.62;-2.62	5.06	-3.91	0.04168	Epidermal growth factor-like (1);Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	0.518909	0.20796	N	0.085524	T	0.79787	0.4506	L	0.33137	0.985	0.27005	N	0.964814	B;B	0.23316	0.083;0.021	B;B	0.19391	0.025;0.007	T	0.64706	-0.6344	9	.	.	.	.	6.6807	0.23119	0.3295:0.0:0.1819:0.4886	.	336;336	E9PC35;P98164	.;LRP2_HUMAN	S	336	ENSP00000263816:Y336S;ENSP00000409813:Y336S	.	Y	-	2	0	LRP2	169853817	0.739000	0.28196	0.005000	0.12908	0.134000	0.20937	0.737000	0.26144	-1.132000	0.02907	-0.438000	0.05819	TAT		0.507	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
METAP1D	254042	hgsc.bcm.edu	37	2	172943959	172943959	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:172943959A>G	ENST00000315796.4	+	8	1206	c.819A>G	c.(817-819)ctA>ctG	p.L273L	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	273					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)	p.L273L(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						ACAGTGATCTACCCATGGAGG	0.498																																					p.L273L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A819G	2						.						107.0	98.0	101.0					2																	172943959		2203	4300	6503	172652205	SO:0001819	synonymous_variant	254042	exon8			AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.819A>G	2.37:g.172943959A>G		Somatic		Capture	SOLID	Phase_I	172652205	NM_199227	Q1WNX3	Silent	SNP	ENST00000315796.4	37	CCDS2246.1																																																																																				0.498	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227	
TTN	7273	hgsc.bcm.edu	37	2	179665157	179665157	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:179665157C>T	ENST00000591111.1	-	4	772	c.548G>A	c.(547-549)gGa>gAa	p.G183E	TTN_ENST00000360870.5_Missense_Mutation_p.G183E|TTN_ENST00000342175.6_Missense_Mutation_p.G183E|TTN_ENST00000589042.1_Missense_Mutation_p.G183E|TTN_ENST00000460472.2_Missense_Mutation_p.G183E|TTN_ENST00000359218.5_Missense_Mutation_p.G183E|TTN_ENST00000342992.6_Missense_Mutation_p.G183E			Q8WZ42	TITIN_HUMAN	titin	32802	Ig-like 2.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G183E(5)		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)			AGTAGCTCTTCCAACGCTATT	0.483																																					p.G183E												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.G548A	2						.						168.0	169.0	169.0					2																	179665157		2203	4300	6503	179373402	SO:0001583	missense	7273	exon4			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.548G>A	2.37:g.179665157C>T	ENSP00000465570:p.Gly183Glu	Somatic		Capture	SOLID	Phase_I	179373402	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	17.67	3.448039	0.63178	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	6.04	6.04	0.98038	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92655	0.7666	H	0.96142	3.775	0.53005	D	0.999961	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.93898	0.7186	9	0.87932	D	0	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	183;183;183;183;183	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	E	183	ENSP00000343764:G183E;ENSP00000434586:G183E;ENSP00000340554:G183E;ENSP00000352154:G183E;ENSP00000354117:G183E	ENSP00000340554:G183E	G	-	2	0	TTN	179373402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GGA		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC141	285025	hgsc.bcm.edu	37	2	179732853	179732853	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:179732853A>G	ENST00000420890.2	-	16	2591	c.2474T>C	c.(2473-2475)aTt>aCt	p.I825T	CCDC141_ENST00000295723.5_Missense_Mutation_p.I250T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	825										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCGGAGGTGAATCTGCACATC	0.517																																					p.I825T												.	.	0			c.T2474C	2						.						130.0	112.0	118.0					2																	179732853		2203	4300	6503	179441098	SO:0001583	missense	285025	exon16			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2474T>C	2.37:g.179732853A>G	ENSP00000395995:p.Ile825Thr	Somatic		Capture	SOLID	Phase_I	179441098	NM_173648	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	A	7.078	0.569745	0.13560	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.41758	0.99;1.6;1.6;1.59	5.5	1.81	0.25067	.	0.797427	0.11082	N	0.601693	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.28235	-1.0050	10	0.13853	T	0.58	-0.0598	5.1121	0.14815	0.6826:0.1551:0.1623:0.0	.	250	Q6ZP82	CC141_HUMAN	T	825;269;250;825	ENSP00000395995:I825T;ENSP00000344627:I269T;ENSP00000295723:I250T;ENSP00000390190:I825T	ENSP00000295723:I250T	I	-	2	0	CCDC141	179441098	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.291000	0.18994	0.456000	0.26937	-1.166000	0.01754	ATT		0.517	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
SESTD1	91404	hgsc.bcm.edu	37	2	180056552	180056552	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:180056552A>G	ENST00000428443.3	-	2	333	c.17T>C	c.(16-18)aTa>aCa	p.I6T	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	6	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.I6T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AATGGGTAATATTACTGAGGC	0.303																																					p.I6T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T17C	2						.						76.0	75.0	75.0					2																	180056552		2203	4298	6501	179764797	SO:0001583	missense	91404	exon2			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.17T>C	2.37:g.180056552A>G	ENSP00000415332:p.Ile6Thr	Somatic		Capture	SOLID	Phase_I	179764797	NM_178123	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.373252	0.61624	.	.	ENSG00000187231	ENST00000428443;ENST00000440010;ENST00000435047	T;T;T	0.13538	2.58;2.58;2.58	5.83	5.83	0.93111	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.043440	0.85682	D	0.000000	T	0.32763	0.0840	M	0.72894	2.215	0.53688	D	0.999978	P	0.50156	0.932	P	0.58520	0.84	T	0.01545	-1.1328	9	.	.	.	-26.2376	14.7636	0.69621	1.0:0.0:0.0:0.0	.	6	Q86VW0	SESD1_HUMAN	T	6	ENSP00000415332:I6T;ENSP00000416164:I6T;ENSP00000410286:I6T	.	I	-	2	0	SESTD1	179764797	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.259000	0.78381	2.230000	0.72887	0.477000	0.44152	ATA		0.303	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123	
NEUROD1	4760	hgsc.bcm.edu	37	2	182542615	182542615	+	Missense_Mutation	SNP	G	G	A	rs368727469		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:182542615G>A	ENST00000295108.3	-	2	1430	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	325					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R325C(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCTCGCAGCGAGGGGCAGCG	0.498																																					p.R325C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C973T	2						.						91.0	93.0	92.0					2																	182542615		2203	4300	6503	182250860	SO:0001583	missense	4760	exon2			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.973C>T	2.37:g.182542615G>A	ENSP00000295108:p.Arg325Cys	Somatic		Capture	SOLID	Phase_I	182250860	NM_002500	B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970789	0.34754	.	.	ENSG00000162992	ENST00000295108	D	0.96619	-4.07	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.94758	0.8308	M	0.75615	2.305	0.80722	D	1	P	0.38078	0.617	B	0.29176	0.099	D	0.94871	0.8030	10	0.87932	D	0	-26.6447	15.013	0.71562	0.0699:0.0:0.9301:0.0	.	325	Q13562	NDF1_HUMAN	C	325	ENSP00000295108:R325C	ENSP00000295108:R325C	R	-	1	0	NEUROD1	182250860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.835000	0.48175	2.693000	0.91896	0.650000	0.86243	CGC		0.498	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500	
ANKAR	150709	hgsc.bcm.edu	37	2	190603301	190603301	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:190603301T>C	ENST00000520309.1	+	19	3681	c.3593T>C	c.(3592-3594)cTg>cCg	p.L1198P	ANKAR_ENST00000313581.4_Missense_Mutation_p.L1198P|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.L1127P	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1198						integral component of membrane (GO:0016021)		p.L1127P(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATTGTTGTACTGGCTAAAGTC	0.318																																					p.L1198P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3593C	2						.						150.0	151.0	151.0					2																	190603301		2202	4300	6502	190311546	SO:0001583	missense	150709	exon19			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3593T>C	2.37:g.190603301T>C	ENSP00000427882:p.Leu1198Pro	Somatic		Capture	SOLID	Phase_I	190311546	NM_144708	Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	T	10.62	1.402227	0.25291	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575;ENST00000374838	T;T;T	0.63744	-0.06;-0.06;-0.06	4.78	3.61	0.41365	.	0.000000	0.48286	D	0.000199	T	0.76688	0.4022	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.78186	-0.2302	10	0.87932	D	0	-13.7399	10.8822	0.46946	0.0:0.0:0.1582:0.8418	.	274	E9PHS9	.	P	1198;1198;1127;274	ENSP00000427882:L1198P;ENSP00000313513:L1198P;ENSP00000393043:L1127P	ENSP00000313513:L1198P	L	+	2	0	ANKAR	190311546	1.000000	0.71417	0.929000	0.37066	0.041000	0.13682	5.260000	0.65490	0.835000	0.34877	-0.299000	0.09455	CTG		0.318	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708	
HECW2	57520	hgsc.bcm.edu	37	2	197157409	197157409	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:197157409G>A	ENST00000260983.3	-	14	3062	c.2880C>T	c.(2878-2880)gaC>gaT	p.D960D	RN7SL820P_ENST00000583941.1_RNA|HECW2_ENST00000409111.1_Silent_p.D604D	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	960	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D960D(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGTGGTGGGTGTCCCTCCGGA	0.493																																					p.D960D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2880T	2						.						148.0	118.0	128.0					2																	197157409		2203	4300	6503	196865654	SO:0001819	synonymous_variant	57520	exon14			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2880C>T	2.37:g.197157409G>A		Somatic		Capture	SOLID	Phase_I	196865654	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	CCDS33354.1																																																																																				0.493	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
ANKRD44	91526	hgsc.bcm.edu	37	2	197870544	197870544	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:197870544G>A	ENST00000328737.2	-	21	2222	c.2146C>T	c.(2146-2148)Cac>Tac	p.H716Y	ANKRD44_ENST00000282272.8_Missense_Mutation_p.H733Y|ANKRD44_ENST00000450567.1_Missense_Mutation_p.H716Y|ANKRD44_ENST00000337207.5_Missense_Mutation_p.H716Y			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	741								p.H716Y(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCTGCATAGTGCAAGGGCGTC	0.502																																					p.H741Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2221T	2						.						175.0	170.0	171.0					2																	197870544		2203	4300	6503	197578789	SO:0001583	missense	91526	exon21			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2146C>T	2.37:g.197870544G>A	ENSP00000331516:p.His716Tyr	Somatic		Capture	SOLID	Phase_I	197578789	NM_001195144	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	G	31	5.073203	0.94000	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.89681	0.6785	M	0.87269	2.87	0.80722	D	1	D	0.56521	0.976	D	0.73380	0.98	D	0.89519	0.3777	10	0.46703	T	0.11	.	19.1301	0.93402	0.0:0.0:1.0:0.0	.	759	Q8N8A2-2	.	Y	556;733;716;716;716	ENSP00000403415:H556Y;ENSP00000282272:H733Y;ENSP00000331516:H716Y;ENSP00000402420:H716Y;ENSP00000338794:H716Y	ENSP00000282272:H733Y	H	-	1	0	ANKRD44	197578789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.767000	0.95098	0.655000	0.94253	CAC		0.502	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	
PLCL1	5334	hgsc.bcm.edu	37	2	198949289	198949289	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:198949289G>A	ENST00000428675.1	+	2	1446	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E252K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	350					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E252K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCATATCACCGAGGATATATG	0.373																																					p.E350K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1048A	2						.						95.0	92.0	93.0					2																	198949289		2203	4300	6503	198657534	SO:0001583	missense	5334	exon2			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1048G>A	2.37:g.198949289G>A	ENSP00000402861:p.Glu350Lys	Somatic		Capture	SOLID	Phase_I	198657534	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593360	0.28357	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.17370	2.28;2.28	5.94	5.94	0.96194	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.12646	0.0307	N	0.20845	0.615	0.80722	D	1	P;B	0.38677	0.642;0.206	B;B	0.32805	0.153;0.107	T	0.10847	-1.0612	9	.	.	.	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	350;276	Q15111;B4DYZ4	PLCL1_HUMAN;.	K	350;252	ENSP00000402861:E350K;ENSP00000414138:E252K	.	E	+	1	0	PLCL1	198657534	1.000000	0.71417	0.996000	0.52242	0.626000	0.37791	9.855000	0.99526	2.826000	0.97356	0.561000	0.74099	GAG		0.373	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
PLCL1	5334	hgsc.bcm.edu	37	2	198950755	198950755	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:198950755C>T	ENST00000428675.1	+	2	2912	c.2514C>T	c.(2512-2514)caC>caT	p.H838H	PLCL1_ENST00000437704.2_Silent_p.H740H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	838					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.H740H(2)|p.H838H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCATGGAGCACGTAACCCTTT	0.458																																					p.H838H												.	.	3	Substitution - coding silent(3)	endometrium(2)|large_intestine(1)	c.C2514T	2						.						175.0	147.0	156.0					2																	198950755		2203	4300	6503	198659000	SO:0001819	synonymous_variant	5334	exon2			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2514C>T	2.37:g.198950755C>T		Somatic		Capture	SOLID	Phase_I	198659000	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	CCDS2326.2																																																																																				0.458	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
CASP8	841	hgsc.bcm.edu	37	2	202150030	202150030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:202150030C>T	ENST00000432109.2	+	9	1483	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.R491*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	432					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R449*(2)|p.R491*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTGAGAGAGCGATGTCCTCG	0.507										HNSCC(4;0.00038)																											p.R417X	Melanoma(82;831 1348 20716 36952 40159)											.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C1249T	2						.						88.0	79.0	82.0					2																	202150030		2203	4300	6503	201858275	SO:0001587	stop_gained	841	exon7			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1294C>T	2.37:g.202150030C>T	ENSP00000412523:p.Arg432*	Somatic		Capture	SOLID	Phase_I	201858275	NM_033356	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854011	0.91355	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.37	-0.0641	0.13774	.	0.491720	0.23362	N	0.049019	.	.	.	.	.	.	0.33432	D	0.581203	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7959	0.08738	0.4714:0.3404:0.0731:0.1151	.	.	.	.	X	417;348;432;449;491;417;211	.	ENSP00000264274:R348X	R	+	1	2	CASP8	201858275	0.981000	0.34729	0.997000	0.53966	0.724000	0.41520	0.848000	0.27710	0.348000	0.23949	-0.314000	0.08810	CGA		0.507	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	
PUM2	23369	hgsc.bcm.edu	37	2	20463198	20463198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:20463198G>A	ENST00000361078.2	-	13	2003	c.1981C>T	c.(1981-1983)Cga>Tga	p.R661*	PUM2_ENST00000536417.1_Nonsense_Mutation_p.R605*|PUM2_ENST00000319801.5_Nonsense_Mutation_p.R582*|PUM2_ENST00000338086.5_Nonsense_Mutation_p.R661*|PUM2_ENST00000403432.1_Nonsense_Mutation_p.R661*			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	661	Ser-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.R661*(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGATATATCGACCACTACCA	0.418																																					p.R661X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1981T	2						.						78.0	76.0	77.0					2																	20463198		2203	4300	6503	20326679	SO:0001587	stop_gained	23369	exon13			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1981C>T	2.37:g.20463198G>A	ENSP00000354370:p.Arg661*	Somatic		Capture	SOLID	Phase_I	20326679	NM_015317	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Nonsense_Mutation	SNP	ENST00000361078.2	37		.	.	.	.	.	.	.	.	.	.	G	40	8.425394	0.98806	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2737	19.8505	0.96738	0.0:0.0:1.0:0.0	.	.	.	.	X	661;661;582;473;661;605	.	ENSP00000326746:R582X	R	-	1	2	PUM2	20326679	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.688000	0.91661	0.655000	0.94253	CGA		0.418	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317	
NOP58	51602	hgsc.bcm.edu	37	2	203160560	203160560	+	Splice_Site	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:203160560G>T	ENST00000264279.5	+	10	1297	c.1071G>T	c.(1069-1071)aaG>aaT	p.K357N	SNORD11_ENST00000459124.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	357	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.K357N(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						ACAAAGGAAAGGTGTGTTATA	0.383																																					p.K357N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1071T	2						.						97.0	98.0	98.0					2																	203160560		2203	4300	6503	202868805	SO:0001630	splice_region_variant	51602	exon10				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.1071+1G>T	2.37:g.203160560G>T		Somatic		Capture	SOLID	Phase_I	202868805	NM_015934	Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905802	0.72868	.	.	ENSG00000055044	ENST00000264279	T	0.70399	-0.48	5.86	4.05	0.47172	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.087903	0.85682	D	0.000000	D	0.91157	0.7215	H	0.99820	4.81	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94207	0.7455	10	0.87932	D	0	2.5079	13.0547	0.58973	0.1322:0.0:0.8678:0.0	.	357	Q9Y2X3	NOP58_HUMAN	N	357	ENSP00000264279:K357N	ENSP00000264279:K357N	K	+	3	2	NOP58	202868805	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.848000	0.55903	1.484000	0.48361	0.563000	0.77884	AAG		0.383	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934	Missense_Mutation
PIKFYVE	200576	hgsc.bcm.edu	37	2	209188947	209188947	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:209188947C>T	ENST00000264380.4	+	18	2430	c.2272C>T	c.(2272-2274)Cgg>Tgg	p.R758W		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	758					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.R758W(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AACAGTGTCTCGGATTGCCCA	0.348																																					p.R758W												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C2272T	2						.						168.0	160.0	163.0					2																	209188947		2203	4300	6503	208897192	SO:0001583	missense	200576	exon18			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2272C>T	2.37:g.209188947C>T	ENSP00000264380:p.Arg758Trp	Somatic		Capture	SOLID	Phase_I	208897192	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797413	0.90538	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.68025	-0.3;-0.3	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000002	D	0.82770	0.5109	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	D	0.84339	0.0526	10	0.66056	D	0.02	-15.368	14.8621	0.70389	0.1429:0.8571:0.0:0.0	.	758;702	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	W	758;334;702	ENSP00000264380:R758W;ENSP00000405736:R702W	ENSP00000264380:R758W	R	+	1	2	PIKFYVE	208897192	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.863000	0.56016	2.788000	0.95919	0.557000	0.71058	CGG		0.348	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
PTH2R	5746	hgsc.bcm.edu	37	2	209302500	209302500	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:209302500A>G	ENST00000272847.2	+	4	518	c.305A>G	c.(304-306)cAc>cGc	p.H102R	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	102					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.H102R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	GCTTTCCGACACTGTAACCCC	0.388																																					p.H102R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A305G	2						.						78.0	76.0	77.0					2																	209302500		2203	4300	6503	209010745	SO:0001583	missense	5746	exon4			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.305A>G	2.37:g.209302500A>G	ENSP00000272847:p.His102Arg	Somatic		Capture	SOLID	Phase_I	209010745	NM_005048	Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	A	0.629	-0.818156	0.02776	.	.	ENSG00000144407	ENST00000272847	T	0.61510	0.1	5.47	3.09	0.35607	GPCR, family 2, extracellular hormone receptor domain (3);	0.144833	0.31834	N	0.006990	T	0.26484	0.0647	N	0.02665	-0.54	0.29924	N	0.822504	B	0.06786	0.001	B	0.13407	0.009	T	0.16808	-1.0390	10	0.17832	T	0.49	.	7.1589	0.25652	0.7457:0.0:0.2543:0.0	.	102	P49190	PTH2R_HUMAN	R	102	ENSP00000272847:H102R	ENSP00000272847:H102R	H	+	2	0	PTH2R	209010745	0.988000	0.35896	0.998000	0.56505	0.948000	0.59901	2.150000	0.42254	0.462000	0.27095	0.383000	0.25322	CAC		0.388	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048	
MAP2	4133	hgsc.bcm.edu	37	2	210517907	210517907	+	Missense_Mutation	SNP	C	C	T	rs138782038		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:210517907C>T	ENST00000360351.4	+	4	519	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	MAP2_ENST00000361559.4_Missense_Mutation_p.R5W|MAP2_ENST00000447185.1_Missense_Mutation_p.R5W|MAP2_ENST00000199940.6_Missense_Mutation_p.R5W|MAP2_ENST00000392194.1_Missense_Mutation_p.R5W	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	5					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.R5W(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GGCAGATGAACGGAAAGATGA	0.448																																					p.R5W	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C13T	2						.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	68.0	52.0	58.0		13,13,13,13	4.7	1.0	2	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	5/560,5/1828,5/472,5/503	210517907	1,13005	2203	4300	6503	210226152	SO:0001583	missense	4133	exon4				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.13C>T	2.37:g.210517907C>T	ENSP00000353508:p.Arg5Trp	Somatic		Capture	SOLID	Phase_I	210226152	NM_031847	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522268	0.64747	0.0	1.16E-4	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185	T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.57	4.68	0.58851	.	0.000000	0.53938	D	0.000058	T	0.32526	0.0832	L	0.27053	0.805	0.44555	D	0.997519	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;P;D	0.83275	0.927;0.996;0.976;0.973;0.847;0.965	T	0.09465	-1.0673	10	0.72032	D	0.01	-7.9818	12.487	0.55879	0.42:0.58:0.0:0.0	.	5;5;6;5;5;5	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	W	5	ENSP00000199940:R5W;ENSP00000376031:R5W;ENSP00000353508:R5W;ENSP00000355290:R5W;ENSP00000409969:R5W;ENSP00000376032:R5W;ENSP00000392164:R5W	ENSP00000199940:R5W	R	+	1	2	MAP2	210226152	0.997000	0.39634	1.000000	0.80357	0.943000	0.58893	2.078000	0.41567	1.328000	0.45358	0.655000	0.94253	CGG		0.448	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
MAP2	4133	hgsc.bcm.edu	37	2	210518007	210518007	+	Missense_Mutation	SNP	G	G	T	rs188840497	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:210518007G>T	ENST00000360351.4	+	4	619	c.113G>T	c.(112-114)gGg>gTg	p.G38V	MAP2_ENST00000361559.4_Missense_Mutation_p.G38V|MAP2_ENST00000447185.1_Missense_Mutation_p.G38V|MAP2_ENST00000199940.6_Missense_Mutation_p.G38V|MAP2_ENST00000392194.1_Missense_Mutation_p.G38V	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	38					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.G38V(3)|p.G38E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GGCGGAGCAGGGGAAGGACTT	0.532																																					p.G38V	Pancreas(27;423 979 28787 29963)											.	.	4	Substitution - Missense(4)	lung(2)|large_intestine(1)|central_nervous_system(1)	c.G113T	2						.						115.0	86.0	96.0					2																	210518007		2203	4300	6503	210226252	SO:0001583	missense	4133	exon4				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.113G>T	2.37:g.210518007G>T	ENSP00000353508:p.Gly38Val	Somatic		Capture	SOLID	Phase_I	210226252	NM_031847	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737959	0.69304	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.45	4.58	0.56647	.	0.000000	0.64402	D	0.000018	T	0.32852	0.0843	L	0.27053	0.805	0.80722	D	1	D;P;D;P;D;P	0.89917	1.0;0.933;1.0;0.761;1.0;0.826	D;P;D;B;D;B	0.97110	1.0;0.732;0.983;0.346;1.0;0.292	T	0.10132	-1.0643	10	0.66056	D	0.02	-9.0334	13.2714	0.60164	0.076:0.0:0.924:0.0	.	38;38;39;38;38;38	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	V	38	ENSP00000199940:G38V;ENSP00000376031:G38V;ENSP00000353508:G38V;ENSP00000355290:G38V;ENSP00000409969:G38V;ENSP00000376032:G38V;ENSP00000392164:G38V	ENSP00000199940:G38V	G	+	2	0	MAP2	210226252	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.744000	0.74854	1.312000	0.45043	-0.136000	0.14681	GGG		0.532	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
APOB	338	hgsc.bcm.edu	37	2	21229850	21229850	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:21229850A>G	ENST00000233242.1	-	26	10017	c.9890T>C	c.(9889-9891)tTa>tCa	p.L3297S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3297					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L3297S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCAGGATTAATGTGTATGA	0.443																																					p.L3297S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T9890C	2						.						88.0	85.0	86.0					2																	21229850		2203	4300	6503	21083355	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9890T>C	2.37:g.21229850A>G	ENSP00000233242:p.Leu3297Ser	Somatic		Capture	SOLID	Phase_I	21083355	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.522119	0.27211	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.36699	1.24	4.8	4.8	0.61643	.	0.161528	0.27673	N	0.018329	T	0.66096	0.2755	M	0.90082	3.085	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.74805	-0.3540	10	0.87932	D	0	.	14.347	0.66672	1.0:0.0:0.0:0.0	.	3297	P04114	APOB_HUMAN	S	3297	ENSP00000233242:L3297S	ENSP00000233242:L3297S	L	-	2	0	APOB	21083355	0.948000	0.32251	0.012000	0.15200	0.110000	0.19582	6.261000	0.72509	1.789000	0.52484	0.460000	0.39030	TTA		0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	hgsc.bcm.edu	37	2	21232486	21232486	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:21232486T>C	ENST00000233242.1	-	26	7381	c.7254A>G	c.(7252-7254)aaA>aaG	p.K2418K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2418					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.K2418K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCAAGGAATTTGTTAACAT	0.308																																					p.K2418K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A7254G	2						.						56.0	55.0	55.0					2																	21232486		2203	4299	6502	21085991	SO:0001819	synonymous_variant	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7254A>G	2.37:g.21232486T>C		Somatic		Capture	SOLID	Phase_I	21085991	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.308	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
MAP2	4133	hgsc.bcm.edu	37	2	210559298	210559298	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:210559298A>G	ENST00000360351.4	+	7	2910	c.2404A>G	c.(2404-2406)Atg>Gtg	p.M802V	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.M798V|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	802					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.M802V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGGTACTGTCATGGCACCTGA	0.453																																					p.M802V	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2404G	2						.						125.0	125.0	125.0					2																	210559298		2203	4300	6503	210267543	SO:0001583	missense	4133	exon7				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2404A>G	2.37:g.210559298A>G	ENSP00000353508:p.Met802Val	Somatic		Capture	SOLID	Phase_I	210267543	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.569979	0.28003	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.20463	2.07;2.07	5.79	5.79	0.91817	MAP2/Tau projection (1);	0.074777	0.56097	D	0.000023	T	0.30634	0.0771	M	0.61703	1.905	0.43678	D	0.99611	P;P	0.47762	0.879;0.9	P;P	0.49799	0.488;0.622	T	0.06570	-1.0819	10	0.87932	D	0	-15.8677	9.0119	0.36146	0.7482:0.1286:0.0:0.1231	.	798;802	P11137-3;P11137	.;MAP2_HUMAN	V	802;798	ENSP00000353508:M802V;ENSP00000392164:M798V	ENSP00000353508:M802V	M	+	1	0	MAP2	210267543	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.861000	0.56002	2.220000	0.72140	0.528000	0.53228	ATG		0.453	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
SPAG16	79582	hgsc.bcm.edu	37	2	214794684	214794684	+	Splice_Site	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:214794684T>C	ENST00000331683.5	+	12	1310	c.1215T>C	c.(1213-1215)agT>agC	p.S405S	SPAG16_ENST00000374309.3_Splice_Site_p.S311S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	405					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.S405S(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTGCAAATAGTGGCGACAAAT	0.353																																					p.S405S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1215C	2						.						96.0	97.0	96.0					2																	214794684		2203	4300	6503	214502929	SO:0001630	splice_region_variant	79582	exon12			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1215-1T>C	2.37:g.214794684T>C		Somatic		Capture	SOLID	Phase_I	214502929	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	CCDS2396.1																																																																																				0.353	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	Silent
SPAG16	79582	hgsc.bcm.edu	37	2	214972925	214972925	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:214972925A>G	ENST00000331683.5	+	14	1628	c.1533A>G	c.(1531-1533)atA>atG	p.I511M	SPAG16_ENST00000374309.3_Missense_Mutation_p.I417M	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	511					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.I511M(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CCTAGGGTATATGTGAGCAGT	0.338																																					p.I511M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1533G	2						.						132.0	119.0	124.0					2																	214972925		2203	4300	6503	214681170	SO:0001583	missense	79582	exon14			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1533A>G	2.37:g.214972925A>G	ENSP00000332592:p.Ile511Met	Somatic		Capture	SOLID	Phase_I	214681170	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.202736	0.38905	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.60171	0.21;0.21;0.21	5.84	1.93	0.25924	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.647764	0.15142	N	0.278217	T	0.36358	0.0964	L	0.27053	0.805	0.22280	N	0.999232	B;B;B;B	0.31459	0.055;0.044;0.324;0.055	B;B;B;B	0.28385	0.089;0.087;0.051;0.089	T	0.20505	-1.0273	10	0.48119	T	0.1	.	2.7223	0.05204	0.2857:0.428:0.0777:0.2086	.	417;362;451;511	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	M	511;417;135	ENSP00000332592:I511M;ENSP00000363428:I417M;ENSP00000416600:I135M	ENSP00000332592:I511M	I	+	3	3	SPAG16	214681170	0.065000	0.20965	1.000000	0.80357	0.984000	0.73092	-0.034000	0.12225	1.031000	0.39867	0.460000	0.39030	ATA		0.338	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
ABCA12	26154	hgsc.bcm.edu	37	2	215818711	215818711	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:215818711A>G	ENST00000272895.7	-	44	6733	c.6514T>C	c.(6514-6516)Tat>Cat	p.Y2172H	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.Y1854H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2172					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.Y2172H(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCACTCCATATGCTTTTAAG	0.408																																					p.Y2172H	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6514C	2						.						116.0	111.0	113.0					2																	215818711		2203	4300	6503	215526956	SO:0001583	missense	26154	exon44			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6514T>C	2.37:g.215818711A>G	ENSP00000272895:p.Tyr2172His	Somatic		Capture	SOLID	Phase_I	215526956	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093389	0.76756	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.83837	-1.77;-1.77	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000007	D	0.89901	0.6849	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.987;0.99	D	0.90754	0.4659	10	0.87932	D	0	.	16.4447	0.83919	1.0:0.0:0.0:0.0	.	2172;1854	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	H	2172;1854	ENSP00000272895:Y2172H;ENSP00000374312:Y1854H	ENSP00000272895:Y2172H	Y	-	1	0	ABCA12	215526956	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.839000	0.75364	2.284000	0.76573	0.528000	0.53228	TAT		0.408	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	hgsc.bcm.edu	37	2	215884399	215884399	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:215884399T>C	ENST00000272895.7	-	12	1628	c.1409A>G	c.(1408-1410)gAt>gGt	p.D470G	AC072062.3_ENST00000419251.1_RNA|AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.D152G|AC072062.3_ENST00000595058.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	470					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.D470G(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTTGCAGATCAAACTCACT	0.443																																					p.D470G	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1409G	2						.						68.0	67.0	68.0					2																	215884399		2203	4300	6503	215592644	SO:0001583	missense	26154	exon12			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1409A>G	2.37:g.215884399T>C	ENSP00000272895:p.Asp470Gly	Somatic		Capture	SOLID	Phase_I	215592644	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	9.763	1.170503	0.21621	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.52295	0.67;0.67	5.8	5.8	0.92144	.	0.305384	0.28431	N	0.015364	T	0.30135	0.0755	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08330	-1.0727	10	0.42905	T	0.14	.	14.3767	0.66884	0.0:0.0:0.0:1.0	.	470;152	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	G	470;152	ENSP00000272895:D470G;ENSP00000374312:D152G	ENSP00000272895:D470G	D	-	2	0	ABCA12	215592644	0.999000	0.42202	0.826000	0.32828	0.253000	0.25986	3.329000	0.52060	2.214000	0.71695	0.519000	0.50382	GAT		0.443	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
IHH	3549	hgsc.bcm.edu	37	2	219924898	219924898	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:219924898C>T	ENST00000295731.6	-	1	291	c.292G>A	c.(292-294)Ggc>Agc	p.G98S	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	98					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)	p.G98S(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGTCGGCGCCTGTGTTCTCC	0.647																																					p.G98S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G292A	2						.						56.0	56.0	56.0					2																	219924898		2203	4300	6503	219633142	SO:0001583	missense	3549	exon1			L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.292G>A	2.37:g.219924898C>T	ENSP00000295731:p.Gly98Ser	Somatic		Capture	SOLID	Phase_I	219633142	NM_002181	B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938506	0.92526	.	.	ENSG00000163501	ENST00000295731	D	0.99784	-6.74	4.22	4.22	0.49857	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99782	0.9909	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96797	0.9586	10	0.87932	D	0	-16.9838	16.401	0.83641	0.0:1.0:0.0:0.0	.	98	Q14623	IHH_HUMAN	S	98	ENSP00000295731:G98S	ENSP00000295731:G98S	G	-	1	0	IHH	219633142	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	5.657000	0.67996	2.180000	0.69256	0.555000	0.69702	GGC		0.647	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181	
GMPPA	29926	hgsc.bcm.edu	37	2	220367116	220367116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:220367116C>T	ENST00000358215.3	+	6	811	c.442C>T	c.(442-444)Caa>Taa	p.Q148*	GMPPA_ENST00000313597.5_Nonsense_Mutation_p.Q148*|GMPPA_ENST00000373917.3_Nonsense_Mutation_p.Q148*|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Nonsense_Mutation_p.Q148*|GMPPA_ENST00000341142.3_Nonsense_Mutation_p.Q148*	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	148					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)	p.Q148*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TAACAGGACGCAATCCCTCAA	0.572																																					p.Q148X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C442T	2						.						95.0	73.0	80.0					2																	220367116		2203	4300	6503	220075360	SO:0001587	stop_gained	29926	exon6			AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.442C>T	2.37:g.220367116C>T	ENSP00000350949:p.Gln148*	Somatic		Capture	SOLID	Phase_I	220075360	NM_205847	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Nonsense_Mutation	SNP	ENST00000358215.3	37	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	C	37	6.505607	0.97620	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	.	.	.	4.46	4.46	0.54185	.	0.148743	0.46145	D	0.000301	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-31.6851	16.7265	0.85423	0.0:1.0:0.0:0.0	.	.	.	.	X	148;148;148;148;148;113;148;78	.	ENSP00000315925:Q148X	Q	+	1	0	GMPPA	220075360	1.000000	0.71417	0.259000	0.24435	0.856000	0.48823	7.176000	0.77643	2.046000	0.60703	0.561000	0.74099	CAA		0.572	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335	
CHPF	79586	hgsc.bcm.edu	37	2	220405690	220405690	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:220405690T>C	ENST00000243776.6	-	3	1294	c.1046A>G	c.(1045-1047)tAc>tGc	p.Y349C	TMEM198_ENST00000344458.2_5'Flank|CHPF_ENST00000535926.1_Missense_Mutation_p.Y187C	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	349					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.Y349C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GATCTCCTGGTACGTGCGTTC	0.567																																					p.Y349C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1046G	2						.						90.0	72.0	78.0					2																	220405690		2203	4300	6503	220113934	SO:0001583	missense	79586	exon3			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1046A>G	2.37:g.220405690T>C	ENSP00000243776:p.Tyr349Cys	Somatic		Capture	SOLID	Phase_I	220113934	NM_024536	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335586	0.81801	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.15952	2.38;2.38	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.43144	0.1234	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44605	-0.9317	10	0.66056	D	0.02	-23.8813	14.5319	0.67931	0.0:0.0:0.0:1.0	.	349	Q8IZ52	CHSS2_HUMAN	C	349;187	ENSP00000243776:Y349C;ENSP00000445571:Y187C	ENSP00000243776:Y349C	Y	-	2	0	CHPF	220113934	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.849000	0.86908	2.084000	0.62774	0.533000	0.62120	TAC		0.567	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536	
SLC4A3	6508	hgsc.bcm.edu	37	2	220493276	220493276	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:220493276C>T	ENST00000358055.3	+	3	713	c.201C>T	c.(199-201)agC>agT	p.S67S	SLC4A3_ENST00000317151.3_Silent_p.S67S|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Silent_p.S67S|SLC4A3_ENST00000373762.3_Silent_p.S67S|SLC4A3_ENST00000373760.2_Silent_p.S67S|AC009955.8_ENST00000455896.1_RNA			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	67					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.S67S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTACAGCGAGCGGGACT	0.657																																					p.S67S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C201T	2						.						32.0	37.0	35.0					2																	220493276		2203	4300	6503	220201520	SO:0001819	synonymous_variant	6508	exon3				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.201C>T	2.37:g.220493276C>T		Somatic		Capture	SOLID	Phase_I	220201520	NM_005070	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	CCDS2445.1																																																																																				0.657	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070	
SCG2	7857	hgsc.bcm.edu	37	2	224463701	224463701	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:224463701G>A	ENST00000305409.2	-	2	532	c.300C>T	c.(298-300)ccC>ccT	p.P100P		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.P100P(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AATCCCTCTCGGGCAAGTGGC	0.448																																					p.P100P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C300T	2						.						113.0	115.0	114.0					2																	224463701		2203	4300	6503	224171945	SO:0001819	synonymous_variant	7857	exon2			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.300C>T	2.37:g.224463701G>A		Somatic		Capture	SOLID	Phase_I	224171945	NM_003469	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	CCDS2457.1																																																																																				0.448	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469	
CUL3	8452	hgsc.bcm.edu	37	2	225339013	225339013	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:225339013T>C	ENST00000264414.4	-	16	2594	c.2256A>G	c.(2254-2256)gaA>gaG	p.E752E	CUL3_ENST00000409777.1_Silent_p.E728E|CUL3_ENST00000409096.1_Silent_p.E728E|CUL3_ENST00000344951.4_Silent_p.E686E	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	752					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.E752E(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GTGCCAAATATTCTCTCTCAA	0.373																																					p.E752E												.	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.A2256G	2						.						154.0	142.0	146.0					2																	225339013		2203	4300	6503	225047257	SO:0001819	synonymous_variant	8452	exon16			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.2256A>G	2.37:g.225339013T>C		Somatic		Capture	SOLID	Phase_I	225047257	NM_003590	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Silent	SNP	ENST00000264414.4	37	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	3.085	-0.188198	0.06299	.	.	ENSG00000036257	ENST00000451538	.	.	.	5.64	4.47	0.54385	.	.	.	.	.	T	0.63438	0.2511	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60419	-0.7267	4	.	.	.	.	12.0329	0.53408	0.1295:0.0:0.0:0.8705	.	.	.	.	V	95	.	.	I	-	1	0	CUL3	225047257	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.235000	0.51328	0.945000	0.37605	-0.333000	0.08304	ATA		0.373	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		
TRIP12	9320	hgsc.bcm.edu	37	2	230655919	230655919	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:230655919A>G	ENST00000283943.5	-	29	4417	c.4239T>C	c.(4237-4239)ggT>ggC	p.G1413G	TRIP12_ENST00000389044.4_Silent_p.G1461G|TRIP12_ENST00000389045.3_Silent_p.G1143G	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1413					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.G1413G(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTCTTTTACCACCAACACAAT	0.373																																					p.G1413G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4239C	2						.						211.0	199.0	203.0					2																	230655919		2203	4300	6503	230364163	SO:0001819	synonymous_variant	9320	exon29			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4239T>C	2.37:g.230655919A>G		Somatic		Capture	SOLID	Phase_I	230364163	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	CCDS33391.1																																																																																				0.373	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
TRIP12	9320	hgsc.bcm.edu	37	2	230662511	230662511	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:230662511A>G	ENST00000283943.5	-	23	3472	c.3294T>C	c.(3292-3294)caT>caC	p.H1098H	TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389044.4_Silent_p.H1146H|TRIP12_ENST00000389045.3_Silent_p.H828H	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1098					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.H1098H(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTACAAATTTATGTGCCTGCT	0.373																																					p.H1098H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3294C	2						.						147.0	146.0	146.0					2																	230662511		2203	4300	6503	230370755	SO:0001819	synonymous_variant	9320	exon23			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3294T>C	2.37:g.230662511A>G		Somatic		Capture	SOLID	Phase_I	230370755	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	CCDS33391.1																																																																																				0.373	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
CHRND	1144	hgsc.bcm.edu	37	2	233398757	233398757	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:233398757G>T	ENST00000258385.3	+	10	1196	c.1164G>T	c.(1162-1164)gaG>gaT	p.E388D	CHRND_ENST00000543200.1_Missense_Mutation_p.E373D|CHRND_ENST00000457943.2_Missense_Mutation_p.E194D	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	388					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.E388D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CCAAGGCCGAGGAGTACTTCC	0.662																																					p.E388D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1164T	2						.						68.0	65.0	66.0					2																	233398757		2203	4300	6503	233107001	SO:0001583	missense	1144	exon10			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1164G>T	2.37:g.233398757G>T	ENSP00000258385:p.Glu388Asp	Somatic		Capture	SOLID	Phase_I	233107001	NM_000751	A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925760	0.52759	.	.	ENSG00000135902	ENST00000543200;ENST00000258385;ENST00000457943	D;D;D	0.83914	-1.78;-1.78;-1.78	5.7	4.82	0.62117	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.051804	0.64402	D	0.000001	T	0.71508	0.3348	L	0.28192	0.835	0.53005	D	0.999968	B;B;B;B	0.18013	0.025;0.007;0.003;0.003	B;B;B;B	0.25405	0.06;0.024;0.024;0.024	T	0.63910	-0.6530	10	0.17832	T	0.49	.	10.5229	0.44929	0.07:0.0:0.7959:0.1341	.	194;373;388;388	B4E3W4;B4DT92;A8K661;Q07001	.;.;.;ACHD_HUMAN	D	373;388;194	ENSP00000438380:E373D;ENSP00000258385:E388D;ENSP00000391055:E194D	ENSP00000258385:E388D	E	+	3	2	CHRND	233107001	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.790000	0.62453	2.688000	0.91661	0.655000	0.94253	GAG		0.662	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2		
GIGYF2	26058	hgsc.bcm.edu	37	2	233671239	233671239	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:233671239G>A	ENST00000409547.1	+	17	1989	c.1678G>A	c.(1678-1680)Gcg>Acg	p.A560T	GIGYF2_ENST00000409196.3_Missense_Mutation_p.A554T|GIGYF2_ENST00000409480.1_Missense_Mutation_p.A582T|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A581T|GIGYF2_ENST00000373566.3_Missense_Mutation_p.A582T|GIGYF2_ENST00000452341.2_Missense_Mutation_p.A391T|GIGYF2_ENST00000373563.4_Missense_Mutation_p.A560T	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	560	GYF. {ECO:0000255|PROSITE- ProRule:PRU00101}.|Required for GRB10-binding. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A560T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ATGGTTTCAGGCGGGCTATTT	0.403																																					p.A554T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1660A	2						.						187.0	183.0	184.0					2																	233671239		2203	4300	6503	233379483	SO:0001583	missense	26058	exon14			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1678G>A	2.37:g.233671239G>A	ENSP00000386537:p.Ala560Thr	Somatic		Capture	SOLID	Phase_I	233379483	NM_001103148	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	35	5.586675	0.96578	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.81078	-1.32;-1.3;-1.32;-1.3;-1.45;-1.29;-1.31;-1.43;-1.22	5.84	5.84	0.93424	GYF (4);	0.000000	0.85682	D	0.000000	D	0.90154	0.6923	M	0.73430	2.235	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.97110	0.997;1.0;0.999;0.995	D	0.90184	0.4245	10	0.72032	D	0.01	-12.8345	20.1551	0.98106	0.0:0.0:1.0:0.0	.	391;581;560;554	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	T	582;503;560;582;560;560;503;554;581;554;391	ENSP00000362667:A582T;ENSP00000362664:A560T;ENSP00000386765:A582T;ENSP00000386537:A560T;ENSP00000404195:A503T;ENSP00000387070:A554T;ENSP00000387170:A581T;ENSP00000410297:A554T;ENSP00000411505:A391T	ENSP00000362664:A560T	A	+	1	0	GIGYF2	233379483	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.807000	0.99171	2.760000	0.94817	0.655000	0.94253	GCG		0.403	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
SPP2	6694	hgsc.bcm.edu	37	2	234969117	234969117	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:234969117C>T	ENST00000168148.3	+	4	526	c.438C>T	c.(436-438)agC>agT	p.S146S	SPP2_ENST00000373368.1_Silent_p.S146S	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	146					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)	p.S146S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		CTTACAGCAGCGAAGAGGTAT	0.567																																					p.S146S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C438T	2						.						63.0	53.0	57.0					2																	234969117		2203	4300	6503	234633856	SO:0001819	synonymous_variant	6694	exon4				CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.438C>T	2.37:g.234969117C>T		Somatic		Capture	SOLID	Phase_I	234633856	NM_006944	A4QMV3|Q3B892|Q546M5	Silent	SNP	ENST00000168148.3	37	CCDS2511.1																																																																																				0.567	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944	
AGAP1	116987	hgsc.bcm.edu	37	2	236839521	236839521	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:236839521C>T	ENST00000304032.8	+	12	2017	c.1437C>T	c.(1435-1437)gaC>gaT	p.D479D	AGAP1_ENST00000428334.2_Silent_p.D318D|AGAP1_ENST00000409538.1_Intron|AGAP1_ENST00000336665.5_Intron	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	479	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.D479D(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCAGTGCCGACCAGTGGAGTG	0.617																																					p.D479D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1437T	2						.						68.0	57.0	61.0					2																	236839521		2203	4300	6503	236504260	SO:0001819	synonymous_variant	116987	exon12			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1437C>T	2.37:g.236839521C>T		Somatic		Capture	SOLID	Phase_I	236504260	NM_001037131	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465929	0.26335	.	.	ENSG00000157985	ENST00000448025	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	T	0.69387	0.3105	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67169	-0.5738	4	.	.	.	.	13.7712	0.63026	0.0:0.924:0.0:0.076	.	.	.	.	S	113	.	.	P	+	1	0	AGAP1	236504260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.716000	0.54904	2.676000	0.91093	0.655000	0.94253	CCA		0.617	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914	
COL6A3	1293	hgsc.bcm.edu	37	2	238249594	238249594	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:238249594G>A	ENST00000295550.4	-	38	8417	c.7965C>T	c.(7963-7965)ccC>ccT	p.P2655P	COL6A3_ENST00000353578.4_Silent_p.P2449P|COL6A3_ENST00000347401.3_Silent_p.P2454P|COL6A3_ENST00000346358.4_Silent_p.P2455P|COL6A3_ENST00000472056.1_Silent_p.P2048P|COL6A3_ENST00000409809.1_Silent_p.P2449P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2655	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P2655P(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGGAGGCCTTGGGATCTGGGC	0.557																																					p.P2048P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6144T	2						.						126.0	117.0	120.0					2																	238249594		2203	4300	6503	237914333	SO:0001819	synonymous_variant	1293	exon35			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7965C>T	2.37:g.238249594G>A		Somatic		Capture	SOLID	Phase_I	237914333	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	hgsc.bcm.edu	37	2	238259830	238259830	+	Silent	SNP	G	G	A	rs375134458		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:238259830G>A	ENST00000295550.4	-	27	7211	c.6759C>T	c.(6757-6759)agC>agT	p.S2253S	COL6A3_ENST00000353578.4_Silent_p.S2047S|COL6A3_ENST00000347401.3_Silent_p.S2052S|COL6A3_ENST00000346358.4_Silent_p.S2053S|COL6A3_ENST00000472056.1_Silent_p.S1646S|COL6A3_ENST00000409809.1_Silent_p.S2047S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2253	Collagen-like 4.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGCACCTCCGCTTCCCTGGA	0.562																																					p.S1646S												.	.	0			c.C4938T	2						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	81.0	70.0	74.0		6759,4938,6141	-4.4	0.1	2		74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	2253/3178,1646/2571,2047/2972	238259830	1,13005	2203	4300	6503	237924569	SO:0001819	synonymous_variant	1293	exon24			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6759C>T	2.37:g.238259830G>A		Somatic		Capture	SOLID	Phase_I	237924569	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.562	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	hgsc.bcm.edu	37	2	238273012	238273012	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:238273012A>G	ENST00000295550.4	-	13	6350	c.5898T>C	c.(5896-5898)tcT>tcC	p.S1966S	COL6A3_ENST00000353578.4_Silent_p.S1760S|COL6A3_ENST00000347401.3_Silent_p.S1765S|COL6A3_ENST00000346358.4_Silent_p.S1766S|COL6A3_ENST00000472056.1_Silent_p.S1359S|COL6A3_ENST00000409809.1_Silent_p.S1760S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1966	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S1966S(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAGGTTCTCAGATGCTCTGT	0.473																																					p.S1359S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4077C	2						.						118.0	105.0	110.0					2																	238273012		2203	4300	6503	237937751	SO:0001819	synonymous_variant	1293	exon10			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5898T>C	2.37:g.238273012A>G		Somatic		Capture	SOLID	Phase_I	237937751	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.473	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	hgsc.bcm.edu	37	2	238275565	238275565	+	Silent	SNP	C	C	T	rs140699766		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:238275565C>T	ENST00000295550.4	-	11	5717	c.5265G>A	c.(5263-5265)tcG>tcA	p.S1755S	COL6A3_ENST00000353578.4_Silent_p.S1549S|COL6A3_ENST00000347401.3_Silent_p.S1554S|COL6A3_ENST00000346358.4_Silent_p.S1555S|COL6A3_ENST00000472056.1_Silent_p.S1148S|COL6A3_ENST00000409809.1_Silent_p.S1549S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1755	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S1755S(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATCTTCCACCGACTTTCCTC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		20328	0.0		0.0	False		,,,				2504	0.001				p.S1148S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3444A	2						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	79.0	81.0	80.0		5265,3444,4647	-5.6	0.7	2	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	1755/3178,1148/2571,1549/2972	238275565	1,13005	2203	4300	6503	237940304	SO:0001819	synonymous_variant	1293	exon8			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5265G>A	2.37:g.238275565C>T		Somatic		Capture	SOLID	Phase_I	237940304	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
HDAC4	9759	hgsc.bcm.edu	37	2	240066326	240066326	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:240066326T>C	ENST00000345617.3	-	8	1609	c.818A>G	c.(817-819)gAc>gGc	p.D273G	HDAC4_ENST00000541256.1_Missense_Mutation_p.D242G|HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	273	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D273G(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CACTGGCCCGTCTTTCCTGCG	0.562																																					p.D273G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A818G	2						.						93.0	87.0	89.0					2																	240066326		2203	4300	6503	239731263	SO:0001583	missense	9759	exon8			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.818A>G	2.37:g.240066326T>C	ENSP00000264606:p.Asp273Gly	Somatic		Capture	SOLID	Phase_I	239731263	NM_006037	Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320546	0.81469	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621	T;T	0.60797	0.16;1.32	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.69851	0.3157	L	0.51914	1.62	0.80722	D	1	D;P;D;D;D;D	0.89917	0.997;0.947;1.0;1.0;1.0;0.991	D;P;D;D;D;P	0.87578	0.989;0.699;0.997;0.998;0.974;0.783	T	0.69312	-0.5178	9	.	.	.	.	14.7613	0.69607	0.0:0.0:0.0:1.0	.	268;156;242;242;241;273	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	G	273;156;242;156	ENSP00000264606:D273G;ENSP00000443057:D242G	.	D	-	2	0	HDAC4	239731263	1.000000	0.71417	0.747000	0.31113	0.824000	0.46624	7.232000	0.78116	1.960000	0.56953	0.533000	0.62120	GAC		0.562	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	
DNMT3A	1788	hgsc.bcm.edu	37	2	25471061	25471061	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:25471061C>T	ENST00000264709.3	-	7	1037	c.700G>A	c.(700-702)Ggg>Agg	p.G234R	DNMT3A_ENST00000380746.4_Missense_Mutation_p.G45R|DNMT3A_ENST00000402667.1_Missense_Mutation_p.G11R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.G234R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	234	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.G234R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGACTCCCCGGGCCCCTGG	0.587			"""Mis, F, N, S"""		AML																																p.G234R			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G700A	2						.						58.0	65.0	62.0					2																	25471061		2203	4300	6503	25324565	SO:0001583	missense	1788	exon7				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.700G>A	2.37:g.25471061C>T	ENSP00000264709:p.Gly234Arg	Somatic		Capture	SOLID	Phase_I	25324565	NM_175629	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714171	0.30413	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.93076	-3.14;-3.16;-3.16;-3.12	5.78	1.96	0.26148	.	1.028630	0.07673	N	0.935815	D	0.82318	0.5011	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.68284	-0.5449	10	0.25106	T	0.35	-13.1678	1.5719	0.02616	0.1482:0.469:0.1437:0.2392	.	234;45	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	R	45;234;234;11	ENSP00000370122:G45R;ENSP00000324375:G234R;ENSP00000264709:G234R;ENSP00000384237:G11R	ENSP00000264709:G234R	G	-	1	0	DNMT3A	25324565	0.000000	0.05858	0.001000	0.08648	0.952000	0.60782	0.657000	0.24963	0.082000	0.17018	0.563000	0.77884	GGG		0.587	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	
KIF3C	3797	hgsc.bcm.edu	37	2	26151923	26151923	+	Missense_Mutation	SNP	C	C	T	rs370755153		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:26151923C>T	ENST00000264712.3	-	8	2885	c.2306G>A	c.(2305-2307)cGg>cAg	p.R769Q	KIF3C_ENST00000405914.1_Missense_Mutation_p.R769Q|KIF3C_ENST00000496378.1_5'Flank	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	769	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R769Q(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTGGAGGCCGCTGAGGACT	0.602																																					p.R769Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2306A	2						.	C	GLN/ARG	0,4406		0,0,2203	94.0	83.0	87.0		2306	1.6	1.0	2		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF3C	NM_002254.6	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	769/794	26151923	1,13005	2203	4300	6503	26005427	SO:0001583	missense	3797	exon8				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.2306G>A	2.37:g.26151923C>T	ENSP00000264712:p.Arg769Gln	Somatic		Capture	SOLID	Phase_I	26005427	NM_002254	O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020727	0.35606	0.0	1.16E-4	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.72394	-0.65;-0.65	5.72	1.56	0.23342	.	0.745034	0.12573	N	0.457110	T	0.46502	0.1396	N	0.14661	0.345	0.23082	N	0.998326	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22695	-1.0209	10	0.22109	T	0.4	.	3.9001	0.09157	0.2602:0.4697:0.0:0.2702	.	767;769	B7ZM25;O14782	.;KIF3C_HUMAN	Q	769;575;769	ENSP00000264712:R769Q;ENSP00000385030:R769Q	ENSP00000264712:R769Q	R	-	2	0	KIF3C	26005427	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	1.010000	0.29898	0.370000	0.24538	-0.355000	0.07637	CGG		0.602	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1		
AGBL5	60509	hgsc.bcm.edu	37	2	27277590	27277590	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:27277590G>T	ENST00000360131.4	+	5	803	c.644G>T	c.(643-645)gGg>gTg	p.G215V	AGBL5_ENST00000323064.8_Missense_Mutation_p.G215V|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	215					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.G215V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGCCATGGGCTTCGAGAA	0.537																																					p.G215V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G644T	2						.						134.0	132.0	133.0					2																	27277590		2203	4300	6503	27131094	SO:0001583	missense	60509	exon5			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.644G>T	2.37:g.27277590G>T	ENSP00000353249:p.Gly215Val	Somatic		Capture	SOLID	Phase_I	27131094	NM_001035507	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928115	0.73327	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.16897	2.75;2.31	6.08	6.08	0.98989	.	0.188249	0.64402	D	0.000019	T	0.44307	0.1287	M	0.67625	2.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.992;0.989	T	0.07214	-1.0784	10	0.54805	T	0.06	-5.0646	20.2585	0.98435	0.0:0.0:1.0:0.0	.	215;215;215	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	V	215	ENSP00000323681:G215V;ENSP00000353249:G215V	ENSP00000323681:G215V	G	+	2	0	AGBL5	27131094	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.375000	0.73137	2.894000	0.99253	0.655000	0.94253	GGG		0.537	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831	
CAD	790	hgsc.bcm.edu	37	2	27456893	27456893	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:27456893C>T	ENST00000403525.1	+	21	3372	c.3228C>T	c.(3226-3228)gcC>gcT	p.A1076A	CAD_ENST00000264705.4_Silent_p.A1139A			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.A1139A(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGTGGATGCCGTGGCCTCTG	0.562																																					p.A1139A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3417T	2						.						68.0	53.0	58.0					2																	27456893		2203	4300	6503	27310397	SO:0001819	synonymous_variant	790	exon22			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3228C>T	2.37:g.27456893C>T		Somatic		Capture	SOLID	Phase_I	27310397	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37																																																																																					0.562	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
ZNF513	130557	hgsc.bcm.edu	37	2	27600815	27600815	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:27600815C>T	ENST00000323703.6	-	4	1421	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	ZNF513_ENST00000407879.1_Missense_Mutation_p.R346H|ZNF513_ENST00000491924.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	408					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.R408H(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTATGGACGCGCTGGTGCCG	0.592																																					p.R408H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1223A	2						.						121.0	129.0	127.0					2																	27600815		2203	4300	6503	27454319	SO:0001583	missense	130557	exon4			AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1223G>A	2.37:g.27600815C>T	ENSP00000318373:p.Arg408His	Somatic		Capture	SOLID	Phase_I	27454319	NM_144631	A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469726	0.63625	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.25749	1.78;1.78	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000141	T	0.52041	0.1710	M	0.90082	3.085	0.54753	D	0.99998	P	0.49961	0.93	P	0.52957	0.714	T	0.63033	-0.6727	10	0.87932	D	0	-12.3914	17.441	0.87565	0.0:1.0:0.0:0.0	.	408	Q8N8E2	ZN513_HUMAN	H	408;346	ENSP00000318373:R408H;ENSP00000384874:R346H	ENSP00000318373:R408H	R	-	2	0	ZNF513	27454319	1.000000	0.71417	0.972000	0.41901	0.451000	0.32288	7.629000	0.83207	2.702000	0.92279	0.655000	0.94253	CGC		0.592	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631	
IFT172	26160	hgsc.bcm.edu	37	2	27681692	27681692	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:27681692G>A	ENST00000260570.3	-	26	2934	c.2831C>T	c.(2830-2832)gCc>gTc	p.A944V		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	944					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.A944V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CATGTCTATGGCATCTTTTGT	0.483																																					p.A944V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2831T	2						.						213.0	167.0	182.0					2																	27681692		2203	4300	6503	27535196	SO:0001583	missense	26160	exon26			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2831C>T	2.37:g.27681692G>A	ENSP00000260570:p.Ala944Val	Somatic		Capture	SOLID	Phase_I	27535196	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501108	0.96371	.	.	ENSG00000138002	ENST00000260570	T	0.19938	2.11	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.79926	2.475	0.80722	D	1	D	0.62365	0.991	P	0.61874	0.895	T	0.42548	-0.9445	10	0.45353	T	0.12	-10.4223	18.2124	0.89874	0.0:0.0:1.0:0.0	.	944	Q9UG01	IF172_HUMAN	V	944	ENSP00000260570:A944V	ENSP00000260570:A944V	A	-	2	0	IFT172	27535196	1.000000	0.71417	0.962000	0.40283	0.943000	0.58893	9.117000	0.94347	2.646000	0.89796	0.591000	0.81541	GCC		0.483	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
TTC27	55622	hgsc.bcm.edu	37	2	33042601	33042601	+	Missense_Mutation	SNP	C	C	T	rs532492634		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:33042601C>T	ENST00000317907.4	+	19	2617	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	796								p.R796W(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ACTCAATTTACGGGGCTTGTT	0.358																																					p.R746W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2236T	2						.						124.0	112.0	116.0					2																	33042601		2203	4300	6503	32896105	SO:0001583	missense	55622	exon19			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2386C>T	2.37:g.33042601C>T	ENSP00000313953:p.Arg796Trp	Somatic		Capture	SOLID	Phase_I	32896105	NM_001193509	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217701	0.79352	.	.	ENSG00000018699	ENST00000317907	T	0.66638	-0.22	5.35	5.35	0.76521	.	0.260886	0.35466	N	0.003184	T	0.73791	0.3632	M	0.68952	2.095	0.47407	D	0.999413	D	0.61697	0.99	P	0.49387	0.609	T	0.76908	-0.2785	10	0.59425	D	0.04	-7.7334	19.4334	0.94781	0.0:1.0:0.0:0.0	.	796	Q6P3X3	TTC27_HUMAN	W	796	ENSP00000313953:R796W	ENSP00000313953:R796W	R	+	1	2	TTC27	32896105	0.999000	0.42202	1.000000	0.80357	0.880000	0.50808	4.387000	0.59626	2.664000	0.90586	0.591000	0.81541	CGG		0.358	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735	
PRKD3	23683	hgsc.bcm.edu	37	2	37543567	37543567	+	Missense_Mutation	SNP	G	G	A	rs114047527	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:37543567G>A	ENST00000379066.1	-	2	863	c.101C>T	c.(100-102)aCg>aTg	p.T34M	PRKD3_ENST00000477132.1_5'Flank|PRKD3_ENST00000234179.2_Missense_Mutation_p.T34M			O94806	KPCD3_HUMAN	protein kinase D3	34					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.T34M(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AGAGAGTCCCGTCTTAGGACT	0.493													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17317	0.0		0.0	False		,,,				2504	0.0				p.T34M	Melanoma(80;621 1355 8613 11814 51767)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C101T	2						.	G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	82.0	79.0	80.0		101	5.4	1.0	2	dbSNP_133	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PRKD3	NM_005813.3	81	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign	34/891	37543567	4,13002	2203	4300	6503	37397071	SO:0001583	missense	23683	exon1			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.101C>T	2.37:g.37543567G>A	ENSP00000368356:p.Thr34Met	Somatic		Capture	SOLID	Phase_I	37397071	NM_005813	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.70	2.911653	0.52439	6.81E-4	1.16E-4	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.66099	-0.19;-0.19	5.39	5.39	0.77823	.	0.334374	0.32671	N	0.005787	T	0.47266	0.1436	N	0.08118	0	0.30919	N	0.728232	P;P	0.50710	0.938;0.733	B;B	0.43123	0.409;0.064	T	0.58797	-0.7573	10	0.72032	D	0.01	-11.1106	17.3603	0.87348	0.0:0.0:1.0:0.0	.	34;34	O94806-2;O94806	.;KPCD3_HUMAN	M	34	ENSP00000368356:T34M;ENSP00000234179:T34M	ENSP00000234179:T34M	T	-	2	0	PRKD3	37397071	1.000000	0.71417	0.992000	0.48379	0.929000	0.56500	8.640000	0.91028	2.524000	0.85096	0.591000	0.81541	ACG		0.493	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813	
DHX57	90957	hgsc.bcm.edu	37	2	39082267	39082267	+	Missense_Mutation	SNP	C	C	T	rs374119423		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:39082267C>T	ENST00000295373.6	-	8	1963	c.1837G>A	c.(1837-1839)Gtt>Att	p.V613I	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	613	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V613I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TCTTTAGCAACGCGTTCAGCA	0.473																																					p.V613I	Melanoma(191;1090 2095 4375 23729 47341)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1837A	2						.	C	ILE/VAL	0,4406		0,0,2203	264.0	258.0	260.0		1837	5.5	1.0	2		260	2,8598	2.2+/-6.3	0,2,4298	no	missense	DHX57	NM_198963.1	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	613/1387	39082267	2,13004	2203	4300	6503	38935771	SO:0001583	missense	90957	exon8			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1837G>A	2.37:g.39082267C>T	ENSP00000295373:p.Val613Ile	Somatic		Capture	SOLID	Phase_I	38935771	NM_198963	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	35	5.502505	0.96371	0.0	2.33E-4	ENSG00000163214	ENST00000295373	T	0.20200	2.09	5.5	5.5	0.81552	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.47455	D	0.000226	T	0.48909	0.1526	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.81914	0.995;0.97;0.955	T	0.45205	-0.9277	10	0.66056	D	0.02	.	19.7622	0.96325	0.0:1.0:0.0:0.0	.	613;613;613	Q6P158-2;Q6P158;B4DKW2	.;DHX57_HUMAN;.	I	613	ENSP00000295373:V613I	ENSP00000295373:V613I	V	-	1	0	DHX57	38935771	1.000000	0.71417	0.973000	0.42090	0.966000	0.64601	7.669000	0.83911	2.732000	0.93576	0.650000	0.86243	GTT		0.473	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	
FSHR	2492	hgsc.bcm.edu	37	2	49210265	49210266	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	CA	CA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:49210265_49210266delCA	ENST00000406846.2	-	7	683_684	c.564_565delTG	c.(562-567)tgtgcafs	p.A189fs	FSHR_ENST00000346173.3_Frame_Shift_Del_p.A189fs|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Frame_Shift_Del_p.A163fs|FSHR_ENST00000469138.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	189			A -> V (in ODG1; very frequent in the Finnish population). {ECO:0000269|PubMed:7553856, ECO:0000269|PubMed:9851774}.		female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.A189fs*8(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CCATTGAATGCACAGTTGTGTA	0.376									Gonadal Dysgenesis, 46 XX																												p.162_163del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.486_487del	2						.																																			49063770	SO:0001589	frameshift_variant	2492	exon6	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.564_565delTG	2.37:g.49210267_49210268delCA	ENSP00000384708:p.Ala189fs	Somatic		Capture	SOLID	Phase_I	49063769	NM_181446	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Frame_Shift_Del	DEL	ENST00000406846.2	37	CCDS1843.1																																																																																				0.376	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2		
CCDC88A	55704	hgsc.bcm.edu	37	2	55522974	55522974	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:55522974C>T	ENST00000436346.1	-	31	6151	c.5310G>A	c.(5308-5310)gcG>gcA	p.A1770A	CCDC88A_ENST00000422883.2_Silent_p.A271A|CCDC88A_ENST00000263630.8_Silent_p.A1742A|CCDC88A_ENST00000336838.6_Silent_p.A1769A|CCDC88A_ENST00000413716.2_Intron	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1770					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.A1742A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAGGTTTTCCCGCAGAACTAA	0.403																																					p.A1769A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5307A	2						.						91.0	90.0	90.0					2																	55522974		2203	4300	6503	55376478	SO:0001819	synonymous_variant	55704	exon31			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5310G>A	2.37:g.55522974C>T		Somatic		Capture	SOLID	Phase_I	55376478	NM_001135597	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	ENST00000436346.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.080|5.080	0.200324|0.200324	0.09652|0.09652	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000444458	.|.	.|.	.|.	5.24|5.24	-0.527|-0.527	0.11909|0.11909	.|.	.|.	.|.	.|.	.|.	T|T	0.39860|0.39860	0.1094|0.1094	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.25047|0.25047	-1.0143|-1.0143	4|4	.|.	.|.	.|.	0.3477|0.3477	1.1068|1.1068	0.01696|0.01696	0.3297:0.1329:0.114:0.4234|0.3297:0.1329:0.114:0.4234	.|.	.|.	.|.	.|.	R|Q	723|273	.|.	.|.	G|R	-|-	1|2	0|0	CCDC88A|CCDC88A	55376478|55376478	0.943000|0.943000	0.32029|0.32029	0.998000|0.998000	0.56505|0.56505	0.953000|0.953000	0.61014|0.61014	-0.073000|-0.073000	0.11468|0.11468	0.036000|0.036000	0.15547|0.15547	-0.414000|-0.414000	0.06135|0.06135	GGG|CGG		0.403	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
PAPOLG	64895	hgsc.bcm.edu	37	2	61007858	61007858	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:61007858G>A	ENST00000238714.3	+	10	1099	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	PAPOLG_ENST00000483370.1_3'UTR	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	284					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.V284M(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GCCAAATCCTGTGCTGCTGAA	0.363																																					p.V284M	GBM(183;1497 2932 21839 46797)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G850A	2						.						134.0	132.0	133.0					2																	61007858		2203	4300	6503	60861362	SO:0001583	missense	64895	exon10			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.850G>A	2.37:g.61007858G>A	ENSP00000238714:p.Val284Met	Somatic		Capture	SOLID	Phase_I	60861362	NM_022894	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144467	0.94603	.	.	ENSG00000115421	ENST00000238714	.	.	.	5.95	5.95	0.96441	Poly(A) polymerase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.90487	0.7020	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93098	0.6506	9	0.87932	D	0	-9.1098	19.1462	0.93469	0.0:0.0:1.0:0.0	.	284	Q9BWT3	PAPOG_HUMAN	M	284	.	ENSP00000238714:V284M	V	+	1	0	PAPOLG	60861362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.812000	0.99227	2.817000	0.96982	0.563000	0.77884	GTG		0.363	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894	
REL	5966	hgsc.bcm.edu	37	2	61118842	61118842	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:61118842T>C	ENST00000295025.8	+	2	355	c.35T>C	c.(34-36)aTa>aCa	p.I12T	REL_ENST00000394479.3_Missense_Mutation_p.I12T	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	12	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I12T(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TATATAGAGATAATTGAACAA	0.403			A		Hodgkin Lymphoma																																p.I12T			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T35C	2						.						104.0	103.0	104.0					2																	61118842		2203	4300	6503	60972346	SO:0001583	missense	5966	exon2			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.35T>C	2.37:g.61118842T>C	ENSP00000295025:p.Ile12Thr	Somatic		Capture	SOLID	Phase_I	60972346	NM_002908	Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.624404	0.87560	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.66280	-0.2;-0.2	5.5	5.5	0.81552	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.84266	0.5434	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88637	0.3173	10	0.87932	D	0	-1.79	15.6052	0.76664	0.0:0.0:0.0:1.0	.	12;12	Q17RU2;Q04864	.;REL_HUMAN	T	12	ENSP00000295025:I12T;ENSP00000377989:I12T	ENSP00000295025:I12T	I	+	2	0	REL	60972346	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.973000	0.88032	2.091000	0.63221	0.533000	0.62120	ATA		0.403	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908	
TMEM17	200728	hgsc.bcm.edu	37	2	62729903	62729903	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:62729903G>A	ENST00000335390.5	-	2	338	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	43					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.L43L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			GACATCTGCAGTGCCAAACTG	0.358																																					p.L43L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C127T	2						.						77.0	80.0	79.0					2																	62729903		2203	4300	6503	62583407	SO:0001819	synonymous_variant	200728	exon2				CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.127C>T	2.37:g.62729903G>A		Somatic		Capture	SOLID	Phase_I	62583407	NM_198276	Q53QP7|Q53R98	Silent	SNP	ENST00000335390.5	37	CCDS1871.1																																																																																				0.358	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276	
UGP2	7360	hgsc.bcm.edu	37	2	64111215	64111218	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	TCAA	TCAA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:64111215_64111218delTCAA	ENST00000337130.5	+	5	1039_1042	c.563_566delTCAA	c.(562-567)ttcaatfs	p.FN188fs	UGP2_ENST00000487469.1_3'UTR|ACA59_ENST00000515966.1_RNA|UGP2_ENST00000445915.2_Frame_Shift_Del_p.FN197fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.FN177fs|UGP2_ENST00000467648.2_Frame_Shift_Del_p.FN177fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	188					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)	p.N189fs*15(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ATCTACACTTTCAATCAAAGCAGG	0.333																																					p.177_178del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.530_533del	2						.																																			63964722	SO:0001589	frameshift_variant	7360	exon5				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.563_566delTCAA	2.37:g.64111219_64111222delTCAA	ENSP00000338703:p.Phe188fs	Somatic		Capture	SOLID	Phase_I	63964719	NM_001001521	Q07131|Q0P6K2|Q86Y81|Q9BU15	Frame_Shift_Del	DEL	ENST00000337130.5	37	CCDS1875.1																																																																																				0.333	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759	
PELI1	57162	hgsc.bcm.edu	37	2	64323294	64323294	+	Missense_Mutation	SNP	G	G	A	rs370334910		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:64323294G>A	ENST00000358912.4	-	6	1097	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	219					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R219C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CTGGTTTCACGTAGGCTAAAT	0.398																																					p.R219C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C655T	2						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	171.0	156.0	161.0		655	4.8	1.0	2		161	0,8600		0,0,4300	no	missense	PELI1	NM_020651.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	219/419	64323294	1,13005	2203	4300	6503	64176798	SO:0001583	missense	57162	exon6				CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.655C>T	2.37:g.64323294G>A	ENSP00000351789:p.Arg219Cys	Somatic		Capture	SOLID	Phase_I	64176798	NM_020651	Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	ENST00000358912.4	37	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081416	0.76528	2.27E-4	0.0	ENSG00000197329	ENST00000358912	T	0.61510	0.1	5.65	4.78	0.61160	.	0.046692	0.85682	N	0.000000	T	0.79587	0.4471	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84261	0.0483	10	0.87932	D	0	-15.5526	15.019	0.71613	0.0685:0.0:0.9315:0.0	.	219	Q96FA3	PELI1_HUMAN	C	219	ENSP00000351789:R219C	ENSP00000351789:R219C	R	-	1	0	PELI1	64176798	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.479000	0.60236	1.530000	0.49136	0.655000	0.94253	CGT		0.398	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651	
GFPT1	2673	hgsc.bcm.edu	37	2	69575423	69575423	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:69575423C>T	ENST00000357308.4	-	11	1067	c.889G>A	c.(889-891)Gat>Aat	p.D297N	GFPT1_ENST00000361060.5_Missense_Mutation_p.D279N	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	297	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GCAACATCATCATCTTCCAGA	0.423																																					p.D279N												.	.	0			c.G835A	2						.						150.0	138.0	142.0					2																	69575423		2203	4300	6503	69428927	SO:0001583	missense	2673	exon10				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.889G>A	2.37:g.69575423C>T	ENSP00000349860:p.Asp297Asn	Somatic		Capture	SOLID	Phase_I	69428927	NM_002056	Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219374	0.79464	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.76060	-0.99;-0.99	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	L	0.49513	1.565	0.80722	D	1	B	0.18968	0.032	B	0.25987	0.065	T	0.66268	-0.5966	10	0.37606	T	0.19	-22.8638	18.5685	0.91126	0.0:1.0:0.0:0.0	.	279	Q06210-2	.	N	297;279	ENSP00000349860:D297N;ENSP00000354347:D279N	ENSP00000349860:D297N	D	-	1	0	GFPT1	69428927	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.618000	0.83043	2.861000	0.98227	0.655000	0.94253	GAT		0.423	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
SNRNP27	11017	hgsc.bcm.edu	37	2	70123578	70123578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:70123578C>T	ENST00000244227.3	+	3	591	c.166C>T	c.(166-168)Cga>Tga	p.R56*	SNRNP27_ENST00000409116.1_Nonsense_Mutation_p.R56*	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	56	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.R56*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						ATCTCCAAGACGACATAGATC	0.378																																					p.R56X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C166T	2						.						120.0	121.0	121.0					2																	70123578		2203	4300	6503	69977082	SO:0001587	stop_gained	11017	exon3			X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.166C>T	2.37:g.70123578C>T	ENSP00000244227:p.Arg56*	Somatic		Capture	SOLID	Phase_I	69977082	NM_006857	Q15410	Nonsense_Mutation	SNP	ENST00000244227.3	37	CCDS33219.1	.	.	.	.	.	.	.	.	.	.	c	34	5.330502	0.95733	.	.	ENSG00000124380	ENST00000244227;ENST00000409116	.	.	.	5.04	3.04	0.35103	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5806	0.39486	0.407:0.593:0.0:0.0	.	.	.	.	X	56	.	ENSP00000244227:R56X	R	+	1	2	SNRNP27	69977082	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.708000	0.25719	1.322000	0.45245	0.585000	0.79938	CGA		0.378	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857	
DYSF	8291	hgsc.bcm.edu	37	2	71840466	71840466	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:71840466G>A	ENST00000258104.3	+	40	4613	c.4336G>A	c.(4336-4338)Gat>Aat	p.D1446N	DYSF_ENST00000429174.2_Missense_Mutation_p.D1446N|DYSF_ENST00000409762.1_Missense_Mutation_p.D1463N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Missense_Mutation_p.D1464N|DYSF_ENST00000409744.1_Missense_Mutation_p.D1433N|DYSF_ENST00000413539.2_Missense_Mutation_p.D1477N|DYSF_ENST00000410041.1_Missense_Mutation_p.D1464N|DYSF_ENST00000409366.1_Missense_Mutation_p.D1447N|DYSF_ENST00000409651.1_Missense_Mutation_p.D1478N|DYSF_ENST00000394120.2_Missense_Mutation_p.D1447N|DYSF_ENST00000409582.3_Missense_Mutation_p.D1463N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1446					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.D1446N(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCTGCAGACGATGTGAGCCT	0.617																																					p.D1478N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4432A	2						.						56.0	43.0	47.0					2																	71840466		2203	4300	6503	71693974	SO:0001583	missense	8291	exon41			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4336G>A	2.37:g.71840466G>A	ENSP00000258104:p.Asp1446Asn	Somatic		Capture	SOLID	Phase_I	71693974	NM_001130982	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.494097	0.26774	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83075	-1.65;-1.65;-1.68;-1.68;-1.65;-1.65;-1.65;-1.68;-1.68;-1.68;-1.65	5.44	4.53	0.55603	.	0.251106	0.36972	N	0.002310	T	0.62998	0.2474	N	0.16368	0.405	0.42033	D	0.991036	B;P;P;B;B;P;B;P;B;P;P;B;B;B;B	0.41910	0.007;0.764;0.589;0.334;0.377;0.764;0.334;0.589;0.334;0.764;0.457;0.142;0.377;0.377;0.259	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.32724	0.006;0.092;0.063;0.063;0.092;0.151;0.063;0.151;0.063;0.092;0.068;0.04;0.092;0.092;0.042	T	0.62651	-0.6809	10	0.25751	T	0.34	-24.1084	7.0818	0.25235	0.0872:0.0:0.741:0.1718	.	189;1478;1464;1447;1433;1464;1433;1463;1432;1477;1463;1446;1432;1447;1446	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	N	1477;1463;1463;1446;1446;1478;1447;1433;1447;1464;1464	ENSP00000407046:D1477N;ENSP00000387137:D1463N;ENSP00000386547:D1463N;ENSP00000398305:D1446N;ENSP00000258104:D1446N;ENSP00000386683:D1478N;ENSP00000377678:D1447N;ENSP00000386285:D1433N;ENSP00000386512:D1447N;ENSP00000386881:D1464N;ENSP00000386617:D1464N	ENSP00000258104:D1446N	D	+	1	0	DYSF	71693974	1.000000	0.71417	0.989000	0.46669	0.242000	0.25591	5.082000	0.64450	2.576000	0.86940	0.561000	0.74099	GAT		0.617	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
CYP26B1	56603	hgsc.bcm.edu	37	2	72371123	72371123	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:72371123G>A	ENST00000001146.2	-	2	627	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	CYP26B1_ENST00000412253.1_5'Flank|CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	142					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.R142C(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						ctTACCTTGCGCTTGTTGCGG	0.622																																					p.R142C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C424T	2						.						50.0	51.0	51.0					2																	72371123		2203	4300	6503	72224631	SO:0001583	missense	56603	exon2				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.424C>T	2.37:g.72371123G>A	ENSP00000001146:p.Arg142Cys	Somatic		Capture	SOLID	Phase_I	72224631	NM_019885	B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711018	0.68730	.	.	ENSG00000003137	ENST00000001146;ENST00000461519	D;D	0.85955	-2.05;-2.05	4.78	3.84	0.44239	.	0.053759	0.64402	D	0.000002	D	0.91788	0.7402	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.92213	0.5778	10	0.87932	D	0	-27.6775	12.3419	0.55099	0.0:0.0:0.8309:0.1691	.	125;142	B7Z2P4;Q9NR63	.;CP26B_HUMAN	C	142;125	ENSP00000001146:R142C;ENSP00000430871:R125C	ENSP00000001146:R142C	R	-	1	0	CYP26B1	72224631	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	1.827000	0.39102	2.682000	0.91365	0.555000	0.69702	CGC		0.622	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885	
REG3G	130120	hgsc.bcm.edu	37	2	79255402	79255402	+	Nonstop_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:79255402G>T	ENST00000272324.5	+	6	712	c.528G>T	c.(526-528)taG>taT	p.*176Y	REG3G_ENST00000409471.1_Nonstop_Mutation_p.*130Y|REG3G_ENST00000393897.2_Nonstop_Mutation_p.*176Y	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	0					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.*176Y(1)|p.*176*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAAGGACTAGGGCAGGTGGG	0.478																																					p.X176Y												.	.	2	Nonstop extension(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.G528T	2						.						86.0	80.0	82.0					2																	79255402		2203	4300	6503	79108910	SO:0001578	stop_lost	130120	exon6			AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.528G>T	2.37:g.79255402G>T	ENSP00000272324:p.*176Tyrext*18	Somatic		Capture	SOLID	Phase_I	79108910	NM_001008387	A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	9.873	1.199367	0.22121	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	.	.	.	4.27	-0.813	0.10850	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5191	0.27618	0.5058:0.0:0.4942:0.0	.	.	.	.	Y	176;176;130	.	.	X	+	3	2	REG3G	79108910	0.001000	0.12720	0.004000	0.12327	0.371000	0.29859	-0.035000	0.12205	-0.294000	0.08973	0.650000	0.86243	TAG		0.478	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448	
LRRTM1	347730	hgsc.bcm.edu	37	2	80530254	80530254	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:80530254G>A	ENST00000295057.3	-	2	1347	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R231C|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	231					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R231C(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGATGAGGCGCGGGAAGTGG	0.582										HNSCC(69;0.2)																											p.R231C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C691T	2						.						107.0	103.0	104.0					2																	80530254		2203	4300	6503	80383765	SO:0001583	missense	347730	exon2			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.691C>T	2.37:g.80530254G>A	ENSP00000295057:p.Arg231Cys	Somatic		Capture	SOLID	Phase_I	80383765	NM_178839	A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478018	0.63849	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.80033	-1.33;-1.33	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	D	0.87771	0.6261	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87378	0.2355	9	.	.	.	.	13.6989	0.62597	0.0:0.0:0.8066:0.1934	.	231	Q86UE6	LRRT1_HUMAN	C	231	ENSP00000295057:R231C;ENSP00000386646:R231C	.	R	-	1	0	LRRTM1	80383765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.178000	0.71968	2.416000	0.81992	0.655000	0.94253	CGC		0.582	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839	
ELMOD3	84173	hgsc.bcm.edu	37	2	85617292	85617292	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:85617292G>A	ENST00000409890.2	+	13	1514	c.847G>A	c.(847-849)Gtg>Atg	p.V283M	ELMOD3_ENST00000315658.7_Missense_Mutation_p.V283M|ELMOD3_ENST00000409013.3_Missense_Mutation_p.V283M|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Missense_Mutation_p.V283M|ELMOD3_ENST00000393852.4_Missense_Mutation_p.V283M			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	283	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V283M(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GGTCATCCCCGTGGTGAACAG	0.567																																					p.V283M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G847A	2						.						107.0	86.0	93.0					2																	85617292		2203	4300	6503	85470803	SO:0001583	missense	84173	exon14			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.847G>A	2.37:g.85617292G>A	ENSP00000386304:p.Val283Met	Somatic		Capture	SOLID	Phase_I	85470803	NM_001135021	B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702212	0.88924	.	.	ENSG00000115459	ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000315658	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	4.98	4.98	0.66077	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.58235	0.2108	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.971	T	0.63238	-0.6682	10	0.59425	D	0.04	-9.789	15.7386	0.77866	0.0:0.0:1.0:0.0	.	283;283	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	M	283	ENSP00000387139:V283M;ENSP00000386304:V283M;ENSP00000386248:V283M;ENSP00000377434:V283M;ENSP00000318264:V283M	ENSP00000318264:V283M	V	+	1	0	ELMOD3	85470803	1.000000	0.71417	0.874000	0.34290	0.986000	0.74619	8.454000	0.90352	2.316000	0.78162	0.563000	0.77884	GTG		0.567	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213	
VAMP5	10791	hgsc.bcm.edu	37	2	85818883	85818883	+	Silent	SNP	G	G	A	rs117717889	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:85818883G>A	ENST00000306384.4	+	2	122	c.39G>A	c.(37-39)gcG>gcA	p.A13A		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	13	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.A13A(1)		NS(1)|large_intestine(3)|lung(1)	5						AGCAGCAGGCGAACGAGGTGA	0.602													G|||	5	0.000998403	0.0	0.0	5008	,	,		18822	0.005		0.0	False		,,,				2504	0.0				p.A13A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G39A	2						.						129.0	110.0	116.0					2																	85818883		2203	4300	6503	85672394	SO:0001819	synonymous_variant	10791	exon2			AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.39G>A	2.37:g.85818883G>A		Somatic		Capture	SOLID	Phase_I	85672394	NM_006634	Q9P0T2	Silent	SNP	ENST00000306384.4	37	CCDS1980.1																																																																																				0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634	
FABP1	2168	hgsc.bcm.edu	37	2	88425734	88425734	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:88425734C>A	ENST00000295834.3	-	2	299	c.201G>T	c.(199-201)gaG>gaT	p.E67D	FABP1_ENST00000393750.3_Missense_Mutation_p.E67D|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	67					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)	p.E67D(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GCTCACATTCCTCCCCCACCG	0.522																																					p.E67D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G201T	2						.						313.0	264.0	281.0					2																	88425734		2203	4300	6503	88206849	SO:0001583	missense	2168	exon2			M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.201G>T	2.37:g.88425734C>A	ENSP00000295834:p.Glu67Asp	Somatic		Capture	SOLID	Phase_I	88206849	NM_001443		Missense_Mutation	SNP	ENST00000295834.3	37	CCDS2001.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919241	0.33908	.	.	ENSG00000163586	ENST00000295834;ENST00000393750	T;T	0.13901	2.55;2.55	5.81	3.05	0.35203	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.140704	0.64402	D	0.000005	T	0.22742	0.0549	M	0.87547	2.89	0.46798	D	0.999204	B;B	0.34103	0.298;0.437	B;B	0.36808	0.233;0.127	T	0.04128	-1.0975	10	0.72032	D	0.01	.	9.8133	0.40838	0.0:0.7148:0.0:0.2852	.	67;67	A8MW49;P07148	.;FABPL_HUMAN	D	67	ENSP00000295834:E67D;ENSP00000377351:E67D	ENSP00000295834:E67D	E	-	3	2	FABP1	88206849	0.999000	0.42202	1.000000	0.80357	0.279000	0.26890	0.719000	0.25881	0.829000	0.34733	0.558000	0.71614	GAG		0.522	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443	
SNRNP200	23020	hgsc.bcm.edu	37	2	96964438	96964438	+	Silent	SNP	C	C	T	rs138992215		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:96964438C>T	ENST00000323853.5	-	8	962	c.885G>A	c.(883-885)acG>acA	p.T295T	SNRNP200_ENST00000349783.5_Silent_p.T295T	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	295					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.T295T(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CATCACTGGCCGTCTGCAGAG	0.458																																					p.T295T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G885A	2						.	C		1,4405	2.1+/-5.4	0,1,2202	83.0	70.0	75.0		885	-11.3	0.2	2	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	SNRNP200	NM_014014.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		295/2137	96964438	1,13005	2203	4300	6503	96328165	SO:0001819	synonymous_variant	23020	exon8			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.885G>A	2.37:g.96964438C>T		Somatic		Capture	SOLID	Phase_I	96328165	NM_014014	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	CCDS2020.1																																																																																				0.458	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
AFF3	3899	hgsc.bcm.edu	37	2	100203686	100203686	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:100203686T>C	ENST00000409236.2	-	14	2633	c.2521A>G	c.(2521-2523)Agc>Ggc	p.S841G	AFF3_ENST00000317233.4_Missense_Mutation_p.S841G|AFF3_ENST00000409579.1_Missense_Mutation_p.S866G|AFF3_ENST00000356421.2_Missense_Mutation_p.S866G			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	841					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.S866G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTTGAAGAGCTGTCTTTCTCT	0.463																																					p.S866G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2596G	2						.						313.0	266.0	282.0					2																	100203686		2203	4300	6503	99570118	SO:0001583	missense	3899	exon15			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2521A>G	2.37:g.100203686T>C	ENSP00000387207:p.Ser841Gly	Somatic		Capture	SOLID	Phase_I	99570118	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.212622	0.39102	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.92	0.289	0.15723	.	0.429320	0.23854	N	0.043919	T	0.40719	0.1128	N	0.25647	0.755	0.18873	N	0.999985	B;B;B	0.10296	0.003;0.0;0.001	B;B;B	0.12156	0.007;0.001;0.0	T	0.14309	-1.0477	10	0.31617	T	0.26	.	4.7277	0.12948	0.3259:0.1523:0.0:0.5218	.	994;841;866	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	G	841;866;866;841;841;994	ENSP00000317421:S841G;ENSP00000348793:S866G;ENSP00000386834:S866G;ENSP00000387207:S841G	ENSP00000317421:S841G	S	-	1	0	AFF3	99570118	1.000000	0.71417	0.041000	0.18516	0.894000	0.52154	1.050000	0.30404	0.116000	0.18110	0.533000	0.62120	AGC		0.463	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
WDR33	55339	hgsc.bcm.edu	37	2	128464040	128464041	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	TG	TG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:128464040_128464041delTG	ENST00000322313.4	-	22	4025_4026	c.3867_3868delCA	c.(3865-3870)cacagafs	p.HR1289fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1289					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.H1289fs*3(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTTCATCTCTGTGGTATCCAT	0.594																																					p.1289_1290del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3867_3868del	2						.																																			128180511	SO:0001589	frameshift_variant	55339	exon22				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3867_3868delCA	2.37:g.128464042_128464043delTG	ENSP00000325377:p.His1289fs	Somatic		Capture	SOLID	Phase_I	128180510	NM_018383	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Del	DEL	ENST00000322313.4	37	CCDS2150.1																																																																																				0.594	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
HOXD1	3231	hgsc.bcm.edu	37	2	177054567	177054568	+	Frame_Shift_Del	DEL	CT	CT	-	rs558646329|rs142635639		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	CT	CT	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:177054567_177054568delCT	ENST00000331462.4	+	2	907_908	c.684_685delCT	c.(682-687)ccctccfs	p.S230fs	HOXD-AS1_ENST00000413969.1_RNA|HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000417086.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	230					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S229fs*23(1)		kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CCGCTAGCCCCTCCAGCGCGAT	0.559																																					p.228_229del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.684_685del	2						.																																			176762814	SO:0001589	frameshift_variant	3231	exon2				CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"""Homeoboxes / ANTP class : HOXL subclass"""	5132	protein-coding gene	gene with protein product		142987	"""homeo box D1"""	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.684_685delCT	2.37:g.177054567_177054568delCT	ENSP00000328598:p.Ser230fs	Somatic		Capture	SOLID	Phase_I	176762813	NM_024501	B2RAB4	Frame_Shift_Del	DEL	ENST00000331462.4	37	CCDS2271.1																																																																																				0.559	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2		
HDAC4	9759	hgsc.bcm.edu	37	2	240024587	240024588	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	GA	GA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:240024587_240024588delGA	ENST00000345617.3	-	16	2893_2894	c.2102_2103delTC	c.(2101-2103)atcfs	p.I701fs	HDAC4_ENST00000541256.1_Frame_Shift_Del_p.I675fs|HDAC4_ENST00000543185.1_Frame_Shift_Del_p.I285fs	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	701	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I701fs*35(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGCGTCCGCGGATGCACTGTGG	0.589																																					p.701_701del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2102_2103del	2						.																																			239689525	SO:0001589	frameshift_variant	9759	exon16			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2102_2103delTC	2.37:g.240024587_240024588delGA	ENSP00000264606:p.Ile701fs	Somatic		Capture	SOLID	Phase_I	239689524	NM_006037	Q9UND6	Frame_Shift_Del	DEL	ENST00000345617.3	37	CCDS2529.1																																																																																				0.589	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	
THAP4	51078	hgsc.bcm.edu	37	2	242572692	242572692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr2:242572692G>A	ENST00000407315.1	-	2	1311	c.880C>T	c.(880-882)Cag>Tag	p.Q294*		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	294							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q294*(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GAAGGCTTCTGCGGTGTCGCG	0.657																																					p.Q294X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C880T	2						.						74.0	80.0	78.0					2																	242572692		2203	4296	6499	242221365	SO:0001587	stop_gained	51078	exon2			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.880C>T	2.37:g.242572692G>A	ENSP00000385006:p.Gln294*	Somatic		Capture	SOLID	Phase_I	242221365	NM_015963	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Nonsense_Mutation	SNP	ENST00000407315.1	37	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	G	41	8.706120	0.98922	.	.	ENSG00000176946	ENST00000407315	.	.	.	5.49	5.49	0.81192	.	0.636500	0.14052	N	0.344709	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-32.4862	17.552	0.87879	0.0:0.0:1.0:0.0	.	.	.	.	X	294	.	ENSP00000385006:Q294X	Q	-	1	0	THAP4	242221365	1.000000	0.71417	0.970000	0.41538	0.528000	0.34623	5.653000	0.67967	2.751000	0.94390	0.650000	0.86243	CAG		0.657	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963	
TGFBR1	7046	hgsc.bcm.edu	37	9	101900255	101900255	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:101900255C>T	ENST00000374994.4	+	4	806	c.689C>T	c.(688-690)gCt>gTt	p.A230V	TGFBR1_ENST00000374990.2_Missense_Mutation_p.A153V|TGFBR1_ENST00000552516.1_Missense_Mutation_p.A234V|TGFBR1_ENST00000550253.1_Missense_Mutation_p.A161V	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.A230V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GAAGAAGTTGCTGTTAAGATA	0.413																																					p.A230V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C689T	9						.						147.0	145.0	146.0					9																	101900255		2203	4300	6503	100940076	SO:0001583	missense	7046	exon4				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.689C>T	9.37:g.101900255C>T	ENSP00000364133:p.Ala230Val	Somatic		Capture	SOLID	Phase_I	100940076	NM_004612	Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161836	0.94727	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	D;D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64;-4.64	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047041	0.85682	D	0.000000	D	0.99055	0.9676	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99529	1.0960	9	.	.	.	.	18.3707	0.90406	0.0:1.0:0.0:0.0	.	153;230	P36897-3;P36897	.;TGFR1_HUMAN	V	230;230;153;234;84;161	ENSP00000364133:A230V;ENSP00000364129:A153V;ENSP00000447297:A234V;ENSP00000449028:A84V;ENSP00000450052:A161V	.	A	+	2	0	TGFBR1	100940076	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	7.773000	0.85462	2.642000	0.89623	0.650000	0.86243	GCT		0.413	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3		
TEX10	54881	hgsc.bcm.edu	37	9	103091504	103091504	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:103091504G>T	ENST00000374902.4	-	7	1719	c.1543C>A	c.(1543-1545)Ctt>Att	p.L515I	TEX10_ENST00000535814.1_Missense_Mutation_p.L518I	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	515						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.L515I(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GGAAGGATAAGGCCCCTCTGC	0.328																																					p.L515I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1543A	9						.						137.0	150.0	146.0					9																	103091504		2202	4300	6502	102131325	SO:0001583	missense	54881	exon7			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1543C>A	9.37:g.103091504G>T	ENSP00000364037:p.Leu515Ile	Somatic		Capture	SOLID	Phase_I	102131325	NM_017746	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338100	0.81911	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000429235	T;T	0.65178	-0.14;-0.14	5.54	5.54	0.83059	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70868	0.3273	L	0.34521	1.04	0.80722	D	1	D;D;P	0.76494	0.999;0.998;0.911	D;D;P	0.83275	0.991;0.996;0.532	T	0.64947	-0.6287	10	0.21540	T	0.41	-8.4633	19.4909	0.95049	0.0:0.0:1.0:0.0	.	518;383;515	B4DYV2;E7ERG2;Q9NXF1	.;.;TEX10_HUMAN	I	518;515;383;160	ENSP00000444555:L518I;ENSP00000364037:L515I	ENSP00000364037:L515I	L	-	1	0	TEX10	102131325	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.246000	0.72405	2.607000	0.88179	0.563000	0.77884	CTT		0.328	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746	
ABCA1	19	hgsc.bcm.edu	37	9	107556784	107556784	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:107556784T>G	ENST00000374736.3	-	40	5784	c.5390A>C	c.(5389-5391)aAt>aCt	p.N1797T		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1797					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.N1797T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ATTGATATTATTCAGCTTCTA	0.408																																					p.N1797T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5390C	9						.						40.0	39.0	39.0					9																	107556784		2203	4300	6503	106596605	SO:0001583	missense	19	exon40			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5390A>C	9.37:g.107556784T>G	ENSP00000363868:p.Asn1797Thr	Somatic		Capture	SOLID	Phase_I	106596605	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	7.412	0.635024	0.14322	.	.	ENSG00000165029	ENST00000374736	D	0.87412	-2.25	5.5	4.34	0.51931	.	0.143974	0.64402	D	0.000004	T	0.76941	0.4058	N	0.20881	0.62	0.80722	D	1	B	0.14012	0.009	B	0.23150	0.044	T	0.67090	-0.5758	10	0.20519	T	0.43	.	8.9763	0.35937	0.0:0.1447:0.0:0.8553	.	1797	O95477	ABCA1_HUMAN	T	1797	ENSP00000363868:N1797T	ENSP00000363868:N1797T	N	-	2	0	ABCA1	106596605	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.320000	0.51991	0.999000	0.39023	0.528000	0.53228	AAT		0.408	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
ZNF462	58499	hgsc.bcm.edu	37	9	109687183	109687183	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:109687183A>G	ENST00000277225.5	+	3	1279	c.990A>G	c.(988-990)agA>agG	p.R330R	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.R330R			Q96JM2	ZN462_HUMAN	zinc finger protein 462	330					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R330R(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCATCATGAGACCCAATTCTT	0.498																																					p.R330R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A990G	9						.						79.0	75.0	76.0					9																	109687183		2203	4300	6503	108727004	SO:0001819	synonymous_variant	58499	exon3			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.990A>G	9.37:g.109687183A>G		Somatic		Capture	SOLID	Phase_I	108727004	NM_021224	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																				0.498	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
PTPN3	5774	hgsc.bcm.edu	37	9	112199180	112199180	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:112199180C>G	ENST00000374541.2	-	9	762	c.658G>C	c.(658-660)Gaa>Caa	p.E220Q	PTPN3_ENST00000262539.3_Missense_Mutation_p.E111Q|PTPN3_ENST00000446349.1_Missense_Mutation_p.E89Q|PTPN3_ENST00000412145.1_Missense_Mutation_p.E89Q	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	220	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.E220Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTGTGCAGTTCTACTCCATAG	0.378																																					p.E220Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G658C	9						.						119.0	108.0	112.0					9																	112199180		2203	4300	6503	111239001	SO:0001583	missense	5774	exon9				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.658G>C	9.37:g.112199180C>G	ENSP00000363667:p.Glu220Gln	Somatic		Capture	SOLID	Phase_I	111239001	NM_002829	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588862	0.86851	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.81	5.81	0.92471	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90345	0.6979	M	0.63169	1.94	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.979;0.996	D	0.90480	0.4459	10	0.72032	D	0.01	.	18.851	0.92230	0.0:1.0:0.0:0.0	.	111;220;220	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	Q	220;89;89;220;111	ENSP00000416654:E89Q;ENSP00000395384:E89Q;ENSP00000363667:E220Q;ENSP00000262539:E111Q	ENSP00000262539:E111Q	E	-	1	0	PTPN3	111239001	1.000000	0.71417	0.998000	0.56505	0.661000	0.39034	6.275000	0.72594	2.747000	0.94245	0.650000	0.86243	GAA		0.378	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		
LPAR1	1902	hgsc.bcm.edu	37	9	113704022	113704022	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:113704022G>A	ENST00000374431.3	-	4	855	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	LPAR1_ENST00000358883.4_Missense_Mutation_p.R158W|LPAR1_ENST00000374430.2_Missense_Mutation_p.R158W|LPAR1_ENST00000541779.1_Missense_Mutation_p.R159W|LPAR1_ENST00000538760.1_Missense_Mutation_p.R159W	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	158					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.R158W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TTGCTCATCCGTGTGTGGAGC	0.542																																					p.R158W	NSCLC(115;661 2323 9836 34256)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C472T	9						.						117.0	104.0	109.0					9																	113704022		2203	4300	6503	112743843	SO:0001583	missense	1902	exon3			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.472C>T	9.37:g.113704022G>A	ENSP00000363553:p.Arg158Trp	Somatic		Capture	SOLID	Phase_I	112743843	NM_001401	B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017060	0.75161	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	5.53	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.983;0.983;0.983	T	0.63189	-0.6693	10	0.72032	D	0.01	.	8.4744	0.33005	0.0771:0.0:0.7707:0.1522	.	159;159;158	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	W	158;159;158;158;140;159;158	ENSP00000363553:R158W;ENSP00000445697:R159W;ENSP00000363552:R158W;ENSP00000351755:R158W;ENSP00000440201:R159W;ENSP00000401810:R158W	ENSP00000351755:R158W	R	-	1	2	LPAR1	112743843	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.528000	0.73807	1.357000	0.45904	0.655000	0.94253	CGG		0.542	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159	
C9orf84	158401	hgsc.bcm.edu	37	9	114503836	114503836	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:114503836G>A	ENST00000318737.4	-	9	1030	c.902C>T	c.(901-903)gCt>gTt	p.A301V	C9orf84_ENST00000394777.4_Missense_Mutation_p.A262V|C9orf84_ENST00000374283.5_Missense_Mutation_p.A365V|C9orf84_ENST00000374287.3_Missense_Mutation_p.A301V|C9orf84_ENST00000394779.3_Missense_Mutation_p.A262V	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	301								p.A262V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGATTCTTCAGCAGTAAGCAA	0.264																																					p.A301V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C902T	9						.						56.0	54.0	55.0					9																	114503836		2202	4298	6500	113543657	SO:0001583	missense	158401	exon9			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.902C>T	9.37:g.114503836G>A	ENSP00000322108:p.Ala301Val	Somatic		Capture	SOLID	Phase_I	113543657	NM_173521	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	5.167	0.216362	0.09810	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	4.56	1.68	0.24146	.	0.476064	0.17806	N	0.161399	T	0.39172	0.1068	L	0.32530	0.975	0.22754	N	0.998777	B;B;P;P	0.45531	0.004;0.008;0.775;0.86	B;B;B;P	0.44561	0.006;0.009;0.306;0.453	T	0.19943	-1.0290	10	0.48119	T	0.1	1.4943	4.0633	0.09849	0.1975:0.0:0.6175:0.1849	.	262;365;301;262	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	V	262;262;301;301;365	ENSP00000378259:A262V;ENSP00000378257:A262V;ENSP00000363405:A301V;ENSP00000322108:A301V;ENSP00000363401:A365V	ENSP00000322108:A301V	A	-	2	0	C9orf84	113543657	0.980000	0.34600	0.398000	0.26321	0.182000	0.23217	1.747000	0.38298	0.251000	0.21505	-0.259000	0.10710	GCT		0.264	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
KIAA1958	158405	hgsc.bcm.edu	37	9	115421658	115421658	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:115421658G>A	ENST00000337530.6	+	4	1756	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	KIAA1958_ENST00000536272.1_Missense_Mutation_p.R515H	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	487								p.R487H(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GGCCTGGACCGCATCCTGAAG	0.557																																					p.R487H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1460A	9						.						50.0	47.0	48.0					9																	115421658		2203	4300	6503	114461479	SO:0001583	missense	158405	exon4			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1460G>A	9.37:g.115421658G>A	ENSP00000336940:p.Arg487His	Somatic		Capture	SOLID	Phase_I	114461479	NM_133465	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958192	0.73902	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.65417	0.2689	L	0.29908	0.895	0.46078	D	0.998851	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.68176	-0.5478	8	0.87932	D	0	.	13.6923	0.62553	0.0763:0.0:0.9237:0.0	.	515;487	B7ZKW6;Q8N8K9	.;K1958_HUMAN	H	487;515	.	ENSP00000336940:R487H	R	+	2	0	KIAA1958	114461479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.928000	0.56506	2.599000	0.87857	0.655000	0.94253	CGC		0.557	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465	
PRPF4	9128	hgsc.bcm.edu	37	9	116050500	116050500	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:116050500G>A	ENST00000374198.4	+	10	1083	c.981G>A	c.(979-981)gcG>gcA	p.A327A	PRPF4_ENST00000374199.4_Silent_p.A326A	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	327					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)		p.A327A(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						TGCGTGTGGCGCGGGTAATGT	0.433																																					p.A327A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G981A	9						.						140.0	114.0	123.0					9																	116050500		2203	4300	6503	115090321	SO:0001819	synonymous_variant	9128	exon10			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.981G>A	9.37:g.116050500G>A		Somatic		Capture	SOLID	Phase_I	115090321	NM_004697	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Silent	SNP	ENST00000374198.4	37	CCDS6791.1																																																																																				0.433	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697	
RGS3	5998	hgsc.bcm.edu	37	9	116246462	116246462	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:116246462G>A	ENST00000374140.2	+	7	779	c.570G>A	c.(568-570)acG>acA	p.T190T	RGS3_ENST00000317613.6_Silent_p.T78T|RGS3_ENST00000350696.5_Silent_p.T190T	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	190	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.T86T(1)|p.T190T(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						ACCAGAAGACGCAGACCGTTC	0.502																																					p.T190T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G570A	9						.						83.0	81.0	82.0					9																	116246462		2203	4300	6503	115286283	SO:0001819	synonymous_variant	5998	exon7			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.570G>A	9.37:g.116246462G>A		Somatic		Capture	SOLID	Phase_I	115286283	NM_144488	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	CCDS43869.1																																																																																				0.502	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	
TRIM32	22954	hgsc.bcm.edu	37	9	119460462	119460462	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:119460462G>T	ENST00000450136.1	+	2	602	c.441G>T	c.(439-441)cgG>cgT	p.R147R	TRIM32_ENST00000373983.2_Silent_p.R147R|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	147					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGCGGCGTCGGGACTTTGGAG	0.592																																					p.R147R	Esophageal Squamous(92;212 1916 19711 26951)											.	.	0			c.G441T	9						.						49.0	56.0	53.0					9																	119460462		2203	4300	6503	118500283	SO:0001819	synonymous_variant	22954	exon2			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.441G>T	9.37:g.119460462G>T		Somatic		Capture	SOLID	Phase_I	118500283	NM_001099679	Q9NQP8	Silent	SNP	ENST00000450136.1	37	CCDS6817.1																																																																																				0.592	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210	
ASTN2	23245	hgsc.bcm.edu	37	9	119976968	119976968	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:119976968G>A	ENST00000313400.4	-	3	784	c.684C>T	c.(682-684)taC>taT	p.Y228Y	ASTN2_ENST00000361477.3_De_novo_Start_OutOfFrame|ASTN2_ENST00000373996.3_Silent_p.Y228Y|ASTN2_ENST00000361209.2_Silent_p.Y228Y			O75129	ASTN2_HUMAN	astrotactin 2	228					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.Y228Y(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTCGCTGGGCGTACAGCGCCA	0.602																																					p.Y228Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C684T	9						.						44.0	43.0	43.0					9																	119976968		2203	4300	6503	119016789	SO:0001819	synonymous_variant	23245	exon3			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.684C>T	9.37:g.119976968G>A		Somatic		Capture	SOLID	Phase_I	119016789	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37																																																																																					0.602	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
TLR4	7099	hgsc.bcm.edu	37	9	120476416	120476416	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:120476416T>C	ENST00000355622.6	+	3	2111	c.2010T>C	c.(2008-2010)ggT>ggC	p.G670G	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.G630G	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	670					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.G670G(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ATGGTAGAGGTGAAAACATCT	0.428																																					p.G670G												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.T2010C	9						.						127.0	116.0	120.0					9																	120476416		2203	4300	6503	119516237	SO:0001819	synonymous_variant	7099	exon3			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2010T>C	9.37:g.120476416T>C		Somatic		Capture	SOLID	Phase_I	119516237	NM_138554	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	CCDS6818.1																																																																																				0.428	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554	
TTLL11	158135	hgsc.bcm.edu	37	9	124751691	124751691	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:124751691C>A	ENST00000373776.3	-	4	1509	c.1322G>T	c.(1321-1323)aGc>aTc	p.S441I	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Missense_Mutation_p.S441I	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	441	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.S441I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GAAGTTGCCGCTGTGGATGTT	0.488																																					p.S441I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1322T	9						.						90.0	95.0	93.0					9																	124751691		2203	4300	6503	123791512	SO:0001583	missense	158135	exon4			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1322G>T	9.37:g.124751691C>A	ENSP00000362881:p.Ser441Ile	Somatic		Capture	SOLID	Phase_I	123791512	NM_001139442		Missense_Mutation	SNP	ENST00000373776.3	37	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512288	0.85389	.	.	ENSG00000175764	ENST00000321582;ENST00000373778;ENST00000373776	T;T	0.06294	3.32;3.32	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79108	0.992;0.986	T	0.47774	-0.9091	10	0.87932	D	0	.	18.9103	0.92481	0.0:1.0:0.0:0.0	.	441;441	F8W6M1;Q8NHH1	.;TTL11_HUMAN	I	441;92;441	ENSP00000321346:S441I;ENSP00000362881:S441I	ENSP00000321346:S441I	S	-	2	0	TTLL11	123791512	1.000000	0.71417	0.959000	0.39883	0.918000	0.54935	7.487000	0.81328	2.716000	0.92895	0.650000	0.86243	AGC		0.488	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486	
LHX6	26468	hgsc.bcm.edu	37	9	124979348	124979348	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:124979348G>A	ENST00000373755.2	-	4	702	c.594C>T	c.(592-594)aaC>aaT	p.N198N	LHX6_ENST00000394319.4_Splice_Site_p.N227N|LHX6_ENST00000340587.3_Splice_Site_p.N227N|LHX6_ENST00000373754.2_Splice_Site_p.N198N|LHX6_ENST00000541397.2_Splice_Site_p.N216N|LHX6_ENST00000559895.1_Splice_Site_p.N11N	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	198					cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N227N(1)		endometrium(2)|kidney(1)|large_intestine(5)	8						GTTGGGTACCGTTCTCGGCGG	0.637																																					p.N227N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C681T	9						.						76.0	68.0	71.0					9																	124979348		2203	4300	6503	124019169	SO:0001630	splice_region_variant	26468	exon5			AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.595+1C>T	9.37:g.124979348G>A		Somatic		Capture	SOLID	Phase_I	124019169	NM_199160	A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Silent	SNP	ENST00000373755.2	37	CCDS56583.1																																																																																				0.637	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368	Silent
TYRP1	7306	hgsc.bcm.edu	37	9	12709024	12709024	+	Missense_Mutation	SNP	G	G	A	rs200607153		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:12709024G>A	ENST00000388918.5	+	8	1585	c.1456G>A	c.(1456-1458)Gct>Act	p.A486T	TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381137.2_Missense_Mutation_p.A195T|TYRP1_ENST00000381136.2_Missense_Mutation_p.A196T|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	486					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A486T(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AGTAGTTGGCGCTTTGTTACT	0.398									Oculocutaneous Albinism																												p.A486T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1456A	9						.	G	THR/ALA	0,4406		0,0,2203	191.0	176.0	182.0		1456	3.1	0.1	9		182	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TYRP1	NM_000550.2	58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	486/538	12709024	3,13003	2203	4300	6503	12699024	SO:0001583	missense	7306	exon8	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1456G>A	9.37:g.12709024G>A	ENSP00000373570:p.Ala486Thr	Somatic		Capture	SOLID	Phase_I	12699024	NM_000550	P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880330	0.51801	0.0	3.49E-4	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.83163	-1.69;-1.69;-1.69	5.0	3.12	0.35913	.	0.153629	0.56097	D	0.000021	T	0.80417	0.4619	M	0.62723	1.935	0.54753	D	0.99998	B	0.18610	0.029	B	0.13407	0.009	T	0.75306	-0.3364	10	0.52906	T	0.07	-27.493	13.9147	0.63890	0.0:0.0:0.7227:0.2773	.	486	P17643	TYRP1_HUMAN	T	195;486;196	ENSP00000370529:A195T;ENSP00000373570:A486T;ENSP00000370528:A196T	ENSP00000370528:A196T	A	+	1	0	TYRP1	12699024	1.000000	0.71417	0.077000	0.20336	0.027000	0.11550	4.322000	0.59215	0.483000	0.27608	0.585000	0.79938	GCT		0.398	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550	
OR1L8	138881	hgsc.bcm.edu	37	9	125330654	125330654	+	Missense_Mutation	SNP	C	C	T	rs149595522	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:125330654C>T	ENST00000304865.2	-	1	184	c.103G>A	c.(103-105)Gtg>Atg	p.V35M		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V35M(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACCAGGTACACGATGAGGAAG	0.502																																					p.V35M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G103A	9						.	C	MET/VAL	0,4406		0,0,2203	124.0	136.0	132.0		103	3.2	0.4	9	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR1L8	NM_001004454.1	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	35/310	125330654	1,13005	2203	4300	6503	124370475	SO:0001583	missense	138881	exon1				CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.103G>A	9.37:g.125330654C>T	ENSP00000306607:p.Val35Met	Somatic		Capture	SOLID	Phase_I	124370475	NM_001004454	A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.115248	0.00349	0.0	1.16E-4	ENSG00000171496	ENST00000304865	T	0.00441	7.41	4.49	3.25	0.37280	.	1.156350	0.06483	N	0.733279	T	0.00144	0.0004	N	0.01535	-0.81	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.21075	-1.0256	10	0.02654	T	1	-3.8564	6.6615	0.23016	0.0:0.2491:0.0:0.7509	.	35	Q8NGR8	OR1L8_HUMAN	M	35	ENSP00000306607:V35M	ENSP00000306607:V35M	V	-	1	0	OR1L8	124370475	0.000000	0.05858	0.430000	0.26722	0.369000	0.29798	-0.321000	0.08018	0.798000	0.33994	0.449000	0.29647	GTG		0.502	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1		
ANGPTL2	23452	hgsc.bcm.edu	37	9	129870341	129870341	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:129870341C>G	ENST00000373425.3	-	2	1287	c.670G>C	c.(670-672)Gtc>Ctc	p.V224L	RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000491991.1_5'Flank	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	224					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GGTTGGTAGACCCGGGGCGGG	0.642																																					p.V224L												.	.	0			c.G670C	9						.						49.0	44.0	46.0					9																	129870341		2203	4300	6503	128910162	SO:0001583	missense	23452	exon2			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.670G>C	9.37:g.129870341C>G	ENSP00000362524:p.Val224Leu	Somatic		Capture	SOLID	Phase_I	128910162	NM_012098	Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131359	0.37630	.	.	ENSG00000136859	ENST00000373425	T	0.47869	0.83	5.17	5.17	0.71159	.	0.877962	0.10226	N	0.700334	T	0.33760	0.0874	N	0.08118	0	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.10337	-1.0634	10	0.24483	T	0.36	.	19.0201	0.92910	0.0:1.0:0.0:0.0	.	224	Q9UKU9	ANGL2_HUMAN	L	224	ENSP00000362524:V224L	ENSP00000362524:V224L	V	-	1	0	ANGPTL2	128910162	1.000000	0.71417	0.971000	0.41717	0.983000	0.72400	4.205000	0.58466	2.564000	0.86499	0.655000	0.94253	GTC		0.642	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098	
ST6GALNAC4	27090	hgsc.bcm.edu	37	9	130674548	130674548	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:130674548G>A	ENST00000335791.5	-	4	885	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	ST6GALNAC4_ENST00000343609.2_Splice_Site_p.R120W|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	204					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)	p.R204W(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CAGGCTCACCGGTTCTTGCCC	0.642																																					p.R204W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C610T	9						.						36.0	34.0	35.0					9																	130674548		2203	4299	6502	129714369	SO:0001630	splice_region_variant	27090	exon4			AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.611+1C>T	9.37:g.130674548G>A		Somatic		Capture	SOLID	Phase_I	129714369	NM_175039	Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Missense_Mutation	SNP	ENST00000335791.5	37	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047470	0.75846	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.35605	1.3;1.31;1.31	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.74467	2.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.60271	-0.7296	10	0.66056	D	0.02	-21.0085	11.09	0.48110	0.0:0.0:0.7131:0.2869	.	204	Q9H4F1	SIA7D_HUMAN	W	120;204;120;120	ENSP00000336733:R204W;ENSP00000340382:R120W;ENSP00000355130:R120W	ENSP00000336733:R204W	R	-	1	2	ST6GALNAC4	129714369	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.520000	0.67080	2.632000	0.89209	0.462000	0.41574	CGG		0.642	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040	Missense_Mutation
CRAT	1384	hgsc.bcm.edu	37	9	131860528	131860528	+	Splice_Site	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:131860528C>A	ENST00000318080.2	-	10	1622	c.1328G>T	c.(1327-1329)aGg>aTg	p.R443M	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	443					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)	p.R443M(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	AGAGGCGCACCTGTAGTAGGC	0.612																																					p.R443M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1328T	9						.						72.0	69.0	70.0					9																	131860528		2203	4300	6503	130900349	SO:0001630	splice_region_variant	1384	exon10			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1328+1G>T	9.37:g.131860528C>A		Somatic		Capture	SOLID	Phase_I	130900349	NM_000755	Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	CCDS6919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.068986|4.068986	0.76301|0.76301	.|.	.|.	ENSG00000095321|ENSG00000095321	ENST00000455396|ENST00000351352;ENST00000318080	.|D	.|0.91011	.|-2.77	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96411|0.96411	0.8829|0.8829	M|M	0.92880|0.92880	3.355|3.355	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74348	.|0.983	D|D	0.97070|0.97070	0.9777|0.9777	5|9	.|.	.|.	.|.	-41.8651|-41.8651	17.7377|17.7377	0.88399|0.88399	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|443	.|P43155	.|CACP_HUMAN	H|M	41|362;443	.|ENSP00000315013:R443M	.|.	Q|R	-|-	3|2	2|0	CRAT|CRAT	130900349|130900349	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.342000|0.342000	0.28953|0.28953	7.651000|7.651000	0.83577|0.83577	2.667000|2.667000	0.90743|0.90743	0.561000|0.561000	0.74099|0.74099	CAG|AGG		0.612	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1		Missense_Mutation
SETX	23064	hgsc.bcm.edu	37	9	135139810	135139810	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:135139810G>A	ENST00000224140.5	-	26	8032	c.7850C>T	c.(7849-7851)aCg>aTg	p.T2617M	SETX_ENST00000372169.2_Missense_Mutation_p.T2646M|SETX_ENST00000393220.1_Missense_Mutation_p.T2584M|SETX_ENST00000477049.1_5'UTR	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2617					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.T2617M(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCTCTGACACGTGGAAGCCTC	0.607																																					p.T2617M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7850T	9						.						118.0	132.0	127.0					9																	135139810		2203	4300	6503	134129631	SO:0001583	missense	23064	exon26			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7850C>T	9.37:g.135139810G>A	ENSP00000224140:p.Thr2617Met	Somatic		Capture	SOLID	Phase_I	134129631	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621025	0.46736	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.93426	-2.25;-3.22;-2.6;-1.95	5.16	-3.75	0.04372	.	4.134610	0.00725	N	0.000915	D	0.89691	0.6788	M	0.65975	2.015	0.09310	N	1	B;B;B	0.33022	0.394;0.273;0.394	B;B;B	0.25506	0.061;0.028;0.061	T	0.77054	-0.2730	10	0.54805	T	0.06	.	3.4759	0.07585	0.1358:0.3934:0.2712:0.1996	.	2584;2617;2646	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	M	2617;888;2646;2584	ENSP00000224140:T2617M;ENSP00000409143:T888M;ENSP00000361242:T2646M;ENSP00000376913:T2584M	ENSP00000224140:T2617M	T	-	2	0	SETX	134129631	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.182000	0.16900	-0.368000	0.08040	-0.500000	0.04577	ACG		0.607	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
DDX31	64794	hgsc.bcm.edu	37	9	135545325	135545325	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:135545325C>T	ENST00000372159.3	-	1	463	c.312G>A	c.(310-312)caG>caA	p.Q104Q	DDX31_ENST00000372153.1_Silent_p.Q104Q|GTF3C4_ENST00000372146.4_5'Flank|DDX31_ENST00000310532.2_Silent_p.Q104Q|GTF3C4_ENST00000483873.2_5'Flank|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000544003.1_5'UTR	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	104						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CTGCCATGGTCTGCGTGGGTG	0.711																																					p.Q104Q												.	.	0			c.G312A	9						.						17.0	10.0	12.0					9																	135545325		2106	4182	6288	134535146	SO:0001819	synonymous_variant	64794	exon1			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.312G>A	9.37:g.135545325C>T		Somatic		Capture	SOLID	Phase_I	134535146	NM_022779	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Silent	SNP	ENST00000372159.3	37	CCDS6951.1																																																																																				0.711	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620	
TSC1	7248	hgsc.bcm.edu	37	9	135798822	135798822	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:135798822G>A	ENST00000298552.3	-	6	642	c.421C>T	c.(421-423)Cca>Tca	p.P141S	TSC1_ENST00000440111.2_Missense_Mutation_p.P141S|TSC1_ENST00000545250.1_Missense_Mutation_p.P90S|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000403810.1_Missense_Mutation_p.P141S	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	141					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.P141S(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGAATCATTGGTAGCATGGTT	0.473			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.P141S		yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C421T	9						.						163.0	130.0	141.0					9																	135798822		2203	4300	6503	134788643	SO:0001583	missense	7248	exon6	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.421C>T	9.37:g.135798822G>A	ENSP00000298552:p.Pro141Ser	Somatic		Capture	SOLID	Phase_I	134788643	NM_001162426	B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952002	0.92660	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000537172;ENST00000424271;ENST00000403810	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.95169	0.8434	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95294	0.8397	10	0.52906	T	0.07	-14.1115	17.8523	0.88751	0.0:0.0:1.0:0.0	.	20;90;141;141;141;141	B7Z604;B7Z897;Q86WV8;Q59IT9;Q32NF0;Q92574	.;.;.;.;.;TSC1_HUMAN	S	141;141;90;20;20;141	ENSP00000298552:P141S;ENSP00000394524:P141S;ENSP00000444017:P90S;ENSP00000438099:P20S;ENSP00000386093:P141S	ENSP00000298552:P141S	P	-	1	0	TSC1	134788643	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	9.209000	0.95087	2.462000	0.83206	0.655000	0.94253	CCA		0.473	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1		
RALGDS	5900	hgsc.bcm.edu	37	9	135985085	135985085	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:135985085G>A	ENST00000372050.3	-	4	533	c.512C>T	c.(511-513)aCg>aTg	p.T171M	RALGDS_ENST00000542690.1_Missense_Mutation_p.T242M|RALGDS_ENST00000372047.3_Intron|RALGDS_ENST00000393157.3_Missense_Mutation_p.T170M|RALGDS_ENST00000393160.3_Missense_Mutation_p.T116M|RALGDS_ENST00000372062.3_Intron|RALGDS_ENST00000469972.1_5'Flank	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	171	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)	p.T171M(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGAGGAGGCCGTGAGGGCGTC	0.527			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																p.T171M	Melanoma(189;762 2088 15384 21931 52515)		Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C512T	9						.						176.0	135.0	149.0					9																	135985085		2202	4300	6502	134974906	SO:0001583	missense	5900	exon4			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.512C>T	9.37:g.135985085G>A	ENSP00000361120:p.Thr171Met	Somatic		Capture	SOLID	Phase_I	134974906	NM_006266	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314207	0.40996	.	.	ENSG00000160271	ENST00000372050;ENST00000393160;ENST00000393157;ENST00000542690	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.6	0.716	0.18191	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	1.051230	0.07437	N	0.896693	T	0.24275	0.0588	N	0.14661	0.345	0.29098	N	0.88163	P;B;P;B	0.38395	0.576;0.256;0.629;0.256	B;B;B;B	0.24701	0.032;0.024;0.055;0.036	T	0.17379	-1.0371	10	0.48119	T	0.1	.	6.205	0.20598	0.4219:0.0:0.5781:0.0	.	242;116;170;171	F5H6M6;Q6KH11;E7ERZ0;Q12967	.;.;.;GNDS_HUMAN	M	171;116;170;242	ENSP00000361120:T171M;ENSP00000376867:T116M;ENSP00000376864:T170M;ENSP00000437518:T242M	ENSP00000361120:T171M	T	-	2	0	RALGDS	134974906	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.462000	0.35266	0.260000	0.21731	0.563000	0.77884	ACG		0.527	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266	
REXO4	57109	hgsc.bcm.edu	37	9	136277967	136277967	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:136277967G>A	ENST00000371942.3	-	3	846	c.647C>T	c.(646-648)gCg>gTg	p.A216V	REXO4_ENST00000478037.1_5'UTR|REXO4_ENST00000371935.2_Intron	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	216					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A216V(1)		kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		CTGTTTCCTCGCTATCTTGGC	0.582																																					p.A216V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C647T	9						.						85.0	65.0	72.0					9																	136277967		2203	4300	6503	135267788	SO:0001583	missense	57109	exon3			AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.647C>T	9.37:g.136277967G>A	ENSP00000361010:p.Ala216Val	Somatic		Capture	SOLID	Phase_I	135267788	NM_020385	B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Missense_Mutation	SNP	ENST00000371942.3	37	CCDS6969.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862763	0.32884	.	.	ENSG00000148300	ENST00000453165;ENST00000371942;ENST00000445916	T;T;T	0.25250	2.1;2.11;1.81	5.13	3.26	0.37387	.	0.227196	0.45606	N	0.000342	T	0.15696	0.0378	L	0.37561	1.115	0.80722	D	1	P	0.34522	0.455	B	0.21917	0.037	T	0.06917	-1.0800	10	0.27082	T	0.32	.	9.6559	0.39925	0.1714:0.0:0.8286:0.0	.	216	Q9GZR2	REXO4_HUMAN	V	201;216;123	ENSP00000403272:A201V;ENSP00000361010:A216V;ENSP00000391534:A123V	ENSP00000361010:A216V	A	-	2	0	REXO4	135267788	0.998000	0.40836	0.051000	0.19133	0.584000	0.36387	3.216000	0.51176	0.545000	0.28902	0.555000	0.69702	GCG		0.582	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1		
COL5A1	1289	hgsc.bcm.edu	37	9	137658317	137658317	+	Silent	SNP	C	C	T	rs534445410		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:137658317C>T	ENST00000371817.3	+	22	2520	c.2106C>T	c.(2104-2106)gaC>gaT	p.D702D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	702	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.D702D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGGGTATGGACGGCCAGCCGG	0.537																																					p.D702D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2106T	9						.						87.0	81.0	83.0					9																	137658317		2203	4300	6503	136798138	SO:0001819	synonymous_variant	1289	exon22			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2106C>T	9.37:g.137658317C>T		Somatic		Capture	SOLID	Phase_I	136798138	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																				0.537	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
OLFM1	10439	hgsc.bcm.edu	37	9	138011819	138011819	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:138011819A>C	ENST00000371793.3	+	6	1504	c.1253A>C	c.(1252-1254)tAc>tCc	p.Y418S	OLFM1_ENST00000371796.3_Missense_Mutation_p.Y391S|OLFM1_ENST00000252854.4_Missense_Mutation_p.Y400S	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	418	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)	p.Y400S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ACCAACGGCTACTCAGGGGGT	0.567																																					p.Y400S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1199C	9						.						107.0	93.0	98.0					9																	138011819		2203	4299	6502	137151640	SO:0001583	missense	10439	exon6			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1253A>C	9.37:g.138011819A>C	ENSP00000360858:p.Tyr418Ser	Somatic		Capture	SOLID	Phase_I	137151640	NM_014279	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37		.	.	.	.	.	.	.	.	.	.	A	19.14	3.769038	0.69992	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.88975	-2.45;-2.45;-2.45	4.7	4.7	0.59300	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.93051	0.7788	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.974	D;P	0.87578	0.998;0.777	D	0.93721	0.7033	10	0.72032	D	0.01	.	14.1672	0.65486	1.0:0.0:0.0:0.0	.	418;400	Q99784;Q6IMJ8	NOE1_HUMAN;.	S	400;391;418	ENSP00000252854:Y400S;ENSP00000360861:Y391S;ENSP00000360858:Y418S	ENSP00000252854:Y400S	Y	+	2	0	OLFM1	137151640	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	9.060000	0.93907	1.759000	0.51996	0.402000	0.26972	TAC		0.567	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279	
KANK1	23189	hgsc.bcm.edu	37	9	744505	744505	+	Silent	SNP	G	G	A	rs114114032	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:744505G>A	ENST00000382303.1	+	15	4564	c.3912G>A	c.(3910-3912)gcG>gcA	p.A1304A	KANK1_ENST00000382297.2_Silent_p.A1304A|KANK1_ENST00000382293.3_Silent_p.A1146A|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1304	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.A1146A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCAGCACTGCGCTCTCAATCG	0.483													G|||	8	0.00159744	0.0	0.0	5008	,	,		18827	0.0		0.006	False		,,,				2504	0.002				p.A1146A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3438A	9						.	A	,	2,4404	4.2+/-10.8	0,2,2201	137.0	117.0	124.0		3912,3438	-11.6	0.2	9	dbSNP_132	124	35,8565	24.6+/-71.5	0,35,4265	no	coding-synonymous,coding-synonymous	KANK1	NM_015158.2,NM_153186.3	,	0,37,6466	AA,AG,GG		0.407,0.0454,0.2845	,	1304/1353,1146/1195	744505	37,12969	2203	4300	6503	734505	SO:0001819	synonymous_variant	23189	exon10			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3912G>A	9.37:g.744505G>A		Somatic		Capture	SOLID	Phase_I	734505	NM_153186	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																				0.483	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
GLIS3	169792	hgsc.bcm.edu	37	9	4117769	4117769	+	Splice_Site	SNP	G	G	A	rs181328309		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:4117769G>A	ENST00000324333.10	-	3	1437	c.1244C>T	c.(1243-1245)aCg>aTg	p.T415M	GLIS3_ENST00000381971.3_Splice_Site_p.T570M	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	415					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T415M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GAAACTCACCGTACACTTGTT	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18128	0.0		0.0	False		,,,				2504	0.0				p.T415M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1244T	9						.						159.0	148.0	152.0					9																	4117769		2203	4300	6503	4107769	SO:0001630	splice_region_variant	169792	exon3			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1245+1C>T	9.37:g.4117769G>A		Somatic		Capture	SOLID	Phase_I	4107769	NM_152629	B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	CCDS6451.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.08	3.297512	0.60086	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.65549	-0.16;-0.16	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000060	T	0.75376	0.3841	M	0.71036	2.16	0.80722	D	1	P;P;P;P;D	0.76494	0.921;0.661;0.919;0.949;0.999	B;B;B;B;P	0.62560	0.34;0.124;0.438;0.23;0.904	T	0.68973	-0.5268	10	0.11794	T	0.64	.	19.8286	0.96626	0.0:0.0:1.0:0.0	.	78;83;83;570;415	Q1PHK4;Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;.;GLIS3_HUMAN	M	415;570	ENSP00000325494:T415M;ENSP00000371398:T570M	ENSP00000325494:T415M	T	-	2	0	GLIS3	4107769	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.780000	0.75063	2.698000	0.92095	0.655000	0.94253	ACG		0.547	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629	Missense_Mutation
ERMP1	79956	hgsc.bcm.edu	37	9	5787162	5787162	+	Silent	SNP	G	G	A	rs576696054		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:5787162G>A	ENST00000339450.5	-	15	2786	c.2697C>T	c.(2695-2697)taC>taT	p.Y899Y	ERMP1_ENST00000543230.1_3'UTR|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	899						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.Y899Y(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CAAAGAGATCGTAGGTGCACA	0.463																																					p.Y899Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2697T	9						.						80.0	81.0	81.0					9																	5787162		2203	4300	6503	5777162	SO:0001819	synonymous_variant	79956	exon15			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.2697C>T	9.37:g.5787162G>A		Somatic		Capture	SOLID	Phase_I	5777162	NM_024896	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																				0.463	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896	
ERMP1	79956	hgsc.bcm.edu	37	9	5825110	5825110	+	Silent	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:5825110A>G	ENST00000339450.5	-	3	839	c.750T>C	c.(748-750)gcT>gcC	p.A250A	ERMP1_ENST00000381506.3_Silent_p.A26A|ERMP1_ENST00000214893.5_Intron	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	250						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.A250A(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CATTTTCCTCAGCACCATTAA	0.348																																					p.A250A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T750C	9						.						70.0	64.0	66.0					9																	5825110		2203	4300	6503	5815110	SO:0001819	synonymous_variant	79956	exon3			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.750T>C	9.37:g.5825110A>G		Somatic		Capture	SOLID	Phase_I	5815110	NM_024896	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																				0.348	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896	
BNC2	54796	hgsc.bcm.edu	37	9	16435607	16435607	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:16435607A>T	ENST00000380672.4	-	6	2642	c.2585T>A	c.(2584-2586)gTc>gAc	p.V862D	BNC2_ENST00000545497.1_Missense_Mutation_p.V767D|BNC2_ENST00000380667.2_Missense_Mutation_p.V795D|BNC2_ENST00000380666.2_Missense_Mutation_p.V862D	NM_017637.5	NP_060107.3			basonuclin 2									p.V862D(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CACTGTGCAGACGTGCATCTC	0.522																																					p.V862D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2585A	9						.						71.0	70.0	70.0					9																	16435607		2203	4300	6503	16425607	SO:0001583	missense	54796	exon6			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2585T>A	9.37:g.16435607A>T	ENSP00000370047:p.Val862Asp	Somatic		Capture	SOLID	Phase_I	16425607	NM_017637		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801270	0.70567	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.61392	1.55;0.11;0.11;1.55;1.55;1.55	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);	0.055692	0.64402	D	0.000001	T	0.69378	0.3104	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.99;0.994;0.997;0.999;0.994;0.994;0.998;0.998	P;P;D;P;P;P;P;P	0.65010	0.836;0.69;0.931;0.899;0.796;0.796;0.855;0.796	T	0.65109	-0.6248	10	0.23891	T	0.37	-18.0312	16.3766	0.83401	1.0:0.0:0.0:0.0	.	767;795;862;862;819;862;767;627	F5H586;B1APH0;Q6ZN30-2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;BNC2_HUMAN;.;.	D	862;255;819;795;767;862;862	ENSP00000370047:V862D;ENSP00000392212:V255D;ENSP00000408370:V819D;ENSP00000370042:V795D;ENSP00000444640:V767D;ENSP00000370041:V862D	ENSP00000370041:V862D	V	-	2	0	BNC2	16425607	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	GTC		0.522	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
BNC2	54796	hgsc.bcm.edu	37	9	16436678	16436678	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:16436678T>C	ENST00000380672.4	-	6	1571	c.1514A>G	c.(1513-1515)aAc>aGc	p.N505S	BNC2_ENST00000545497.1_Missense_Mutation_p.N410S|BNC2_ENST00000380667.2_Missense_Mutation_p.N438S|BNC2_ENST00000380666.2_Missense_Mutation_p.N505S	NM_017637.5	NP_060107.3			basonuclin 2									p.N505S(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTTATCTCGGTTATTCCTTAG	0.507																																					p.N505S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1514G	9						.						100.0	98.0	98.0					9																	16436678		2203	4300	6503	16426678	SO:0001583	missense	54796	exon6			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1514A>G	9.37:g.16436678T>C	ENSP00000370047:p.Asn505Ser	Somatic		Capture	SOLID	Phase_I	16426678	NM_017637		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056413	0.36277	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.36340	1.26;1.26;1.29;1.28;1.28	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	L	0.42245	1.32	0.80722	D	1	D;B;D;P;D;D;P;D;B	0.67145	0.98;0.384;0.996;0.867;0.996;0.993;0.615;0.993;0.214	P;B;D;P;D;D;B;D;B	0.75484	0.753;0.07;0.98;0.671;0.986;0.935;0.1;0.956;0.056	T	0.43940	-0.9360	10	0.33940	T	0.23	-29.7658	16.3009	0.82811	0.0:0.0:0.0:1.0	.	410;438;505;331;505;462;505;410;270	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	S	505;462;438;410;331;505;505	ENSP00000370047:N505S;ENSP00000408370:N462S;ENSP00000370042:N438S;ENSP00000444640:N410S;ENSP00000370041:N505S	ENSP00000370041:N505S	N	-	2	0	BNC2	16426678	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.040000	0.89188	2.246000	0.74042	0.533000	0.62120	AAC		0.507	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
ADAMTSL1	92949	hgsc.bcm.edu	37	9	18533263	18533263	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:18533263T>C	ENST00000380548.4	+	3	549	c.210T>C	c.(208-210)aaT>aaC	p.N70N	ADAMTSL1_ENST00000380566.4_Silent_p.N70N|ADAMTSL1_ENST00000431052.2_Silent_p.N70N|ADAMTSL1_ENST00000380570.4_Silent_p.N70N|ADAMTSL1_ENST00000327883.7_Silent_p.N70N|ADAMTSL1_ENST00000276935.6_Silent_p.N70N	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	70	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N70N(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAGGAAGAAATATCCGATACA	0.303																																					p.N70N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T210C	9						.						119.0	121.0	120.0					9																	18533263		2203	4299	6502	18523263	SO:0001819	synonymous_variant	92949	exon3			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.210T>C	9.37:g.18533263T>C		Somatic		Capture	SOLID	Phase_I	18523263	NM_052866	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	CCDS47954.1																																																																																				0.303	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
FAM154A	158297	hgsc.bcm.edu	37	9	18928273	18928273	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:18928273G>T	ENST00000380534.4	-	4	1481	c.1202C>A	c.(1201-1203)cCt>cAt	p.P401H	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.P209H	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	401								p.P401H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GCTTTCCACAGGGACATTTCC	0.547																																					p.P401H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1202A	9						.						102.0	86.0	91.0					9																	18928273		2203	4300	6503	18918273	SO:0001583	missense	158297	exon4			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.1202C>A	9.37:g.18928273G>T	ENSP00000369907:p.Pro401His	Somatic		Capture	SOLID	Phase_I	18918273	NM_153707	Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257304	0.59321	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.29917	2.42;1.55	5.09	5.09	0.68999	.	0.112249	0.41001	D	0.000971	T	0.54515	0.1863	M	0.69185	2.1	0.42420	D	0.992633	D	0.89917	1.0	D	0.74674	0.984	T	0.56547	-0.7961	10	0.62326	D	0.03	-12.0547	17.2336	0.86991	0.0:0.0:1.0:0.0	.	401	Q8IYX7	F154A_HUMAN	H	401;209	ENSP00000369907:P401H;ENSP00000438823:P209H	ENSP00000369907:P401H	P	-	2	0	FAM154A	18918273	0.994000	0.37717	0.245000	0.24217	0.836000	0.47400	2.960000	0.49161	2.640000	0.89533	0.650000	0.86243	CCT		0.547	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707	
DENND4C	55667	hgsc.bcm.edu	37	9	19328048	19328048	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:19328048T>C	ENST00000380432.2	+	12	1466	c.1433T>C	c.(1432-1434)cTg>cCg	p.L478P	DENND4C_ENST00000434457.2_Missense_Mutation_p.L714P|DENND4C_ENST00000602925.1_Missense_Mutation_p.L714P			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	478					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L478P(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTCCAAGACTGGACCTTAAG	0.353																																					p.L478P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1433C	9						.						73.0	74.0	73.0					9																	19328048		2203	4300	6503	19318048	SO:0001583	missense	55667	exon12			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.1433T>C	9.37:g.19328048T>C	ENSP00000369797:p.Leu478Pro	Somatic		Capture	SOLID	Phase_I	19318048	NM_017925	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37		.	.	.	.	.	.	.	.	.	.	T	23.5	4.417953	0.83449	.	.	ENSG00000137145	ENST00000380437	.	.	.	5.77	5.77	0.91146	.	0.069873	0.64402	D	0.000016	T	0.81143	0.4761	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83986	0.0335	9	0.87932	D	0	-6.5413	16.3948	0.83586	0.0:0.0:0.0:1.0	.	478	Q5VZ89	DEN4C_HUMAN	P	478	.	ENSP00000369802:L478P	L	+	2	0	DENND4C	19318048	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.117000	0.77129	2.326000	0.78906	0.533000	0.62120	CTG		0.353	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925	
ACO1	48	hgsc.bcm.edu	37	9	32449014	32449014	+	Missense_Mutation	SNP	G	G	T	rs374312972		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:32449014G>T	ENST00000309951.6	+	20	2629	c.2491G>T	c.(2491-2493)Ggg>Tgg	p.G831W	ACO1_ENST00000379923.1_Missense_Mutation_p.G831W|ACO1_ENST00000541043.1_Missense_Mutation_p.G732W	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	831					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.G831W(1)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GGGGCTCACAGGGCAAGAACG	0.517																																					p.G831W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2491T	9						.						105.0	93.0	97.0					9																	32449014		2203	4300	6503	32439014	SO:0001583	missense	48	exon20			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2491G>T	9.37:g.32449014G>T	ENSP00000309477:p.Gly831Trp	Somatic		Capture	SOLID	Phase_I	32439014	NM_002197	D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575305	0.86645	.	.	ENSG00000122729	ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.46451	0.87;0.87;1.89	6.02	6.02	0.97574	Aconitase/3-isopropylmalate dehydratase, swivel (2);	0.000000	0.85682	D	0.000000	T	0.77452	0.4132	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83760	0.0214	10	0.87932	D	0	-16.4841	19.3122	0.94192	0.0:0.0:1.0:0.0	.	831	P21399	ACOC_HUMAN	W	831;831;732	ENSP00000309477:G831W;ENSP00000369255:G831W;ENSP00000438733:G732W	ENSP00000309477:G831W	G	+	1	0	ACO1	32439014	1.000000	0.71417	0.533000	0.28001	0.856000	0.48823	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	GGG		0.517	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197	
FANCG	2189	hgsc.bcm.edu	37	9	35075074	35075074	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:35075074C>T	ENST00000378643.3	-	12	1977	c.1486G>A	c.(1486-1488)Gct>Act	p.A496T	FANCG_ENST00000476212.1_Intron|VCP_ENST00000358901.6_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	496					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.A496T(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAGTTGAAAGCTGCCCCTGGG	0.557			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																													p.A496T		yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Fanconi anemia, complementation group G"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1486A	9						.						54.0	53.0	53.0					9																	35075074		2203	4300	6503	35065074	SO:0001583	missense	2189	exon12			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1486G>A	9.37:g.35075074C>T	ENSP00000367910:p.Ala496Thr	Somatic		Capture	SOLID	Phase_I	35065074	NM_004629		Missense_Mutation	SNP	ENST00000378643.3	37	CCDS6574.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.697|6.697	0.497296|0.497296	0.12762|0.12762	.|.	.|.	ENSG00000221829|ENSG00000221829	ENST00000378643|ENST00000543657	T|.	0.54071|.	0.59|.	5.18|5.18	-0.318|-0.318	0.12728|0.12728	Tetratricopeptide-like helical (1);|.	.|.	.|.	.|.	.|.	T|T	0.36358|0.36358	0.0964|0.0964	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B|.	0.15141|.	0.012|.	B|.	0.11329|.	0.006|.	T|T	0.40440|0.40440	-0.9563|-0.9563	9|6	0.14656|0.72032	T|D	0.56|0.01	-3.0E-4|-3.0E-4	1.9012|1.9012	0.03268|0.03268	0.2712:0.4266:0.133:0.1692|0.2712:0.4266:0.133:0.1692	.|.	496|.	O15287|.	FANCG_HUMAN|.	T|N	496|445	ENSP00000367910:A496T|.	ENSP00000367910:A496T|ENSP00000440458:S445N	A|S	-|-	1|2	0|0	FANCG|FANCG	35065074|35065074	0.646000|0.646000	0.27295|0.27295	0.730000|0.730000	0.30809|0.30809	0.065000|0.065000	0.16274|0.16274	0.140000|0.140000	0.16056|0.16056	0.051000|0.051000	0.15978|0.15978	-1.113000|-1.113000	0.02065|0.02065	GCT|AGC		0.557	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629	
FAM214B	80256	hgsc.bcm.edu	37	9	35105807	35105807	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:35105807G>T	ENST00000378561.1	-	7	4390	c.1335C>A	c.(1333-1335)acC>acA	p.T445T	FAM214B_ENST00000488109.2_Silent_p.T445T|FAM214B_ENST00000378557.1_Silent_p.T445T|FAM214B_ENST00000378554.2_Intron|STOML2_ENST00000356493.5_5'Flank|STOML2_ENST00000452248.2_5'Flank|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000322813.5_Silent_p.T445T|FAM214B_ENST00000603301.1_Silent_p.T445T|FAM214B_ENST00000605244.1_Silent_p.T445T|FAM214B_ENST00000378566.1_Silent_p.T140T			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	445						nucleus (GO:0005634)		p.T445T(1)									AGAAGTCAAAGGTCACAAGGA	0.547																																					p.T445T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1335A	9						.						165.0	137.0	147.0					9																	35105807		2203	4300	6503	35095807	SO:0001819	synonymous_variant	80256	exon8			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.1335C>A	9.37:g.35105807G>T		Somatic		Capture	SOLID	Phase_I	35095807	NM_025182	B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Silent	SNP	ENST00000378561.1	37	CCDS6578.1																																																																																				0.547	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182	
UNC13B	10497	hgsc.bcm.edu	37	9	35295792	35295792	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:35295792C>G	ENST00000378495.3	+	8	848	c.626C>G	c.(625-627)cCc>cGc	p.P209R	UNC13B_ENST00000378496.4_Missense_Mutation_p.P209R|UNC13B_ENST00000396787.1_Missense_Mutation_p.P221R	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	209			P -> S (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCTTCCCAGCCCAACGCTTCT	0.542																																					p.P209R												UNC13B,large_intestine,colon,Substitution - Missense,+1	.	0			c.C626G	9						.						132.0	106.0	115.0					9																	35295792		2203	4300	6503	35285792	SO:0001583	missense	10497	exon8			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.626C>G	9.37:g.35295792C>G	ENSP00000367756:p.Pro209Arg	Somatic		Capture	SOLID	Phase_I	35285792	NM_006377	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134204	0.94517	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;T;T	0.86865	-2.18;0.9;0.9	5.8	5.8	0.92144	.	0.270698	0.36555	N	0.002529	D	0.92770	0.7701	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.83275	0.996;0.967;0.996	D	0.90074	0.4165	10	0.27082	T	0.32	-10.1058	20.0716	0.97726	0.0:1.0:0.0:0.0	.	209;209;209	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	R	221;209;209	ENSP00000380006:P221R;ENSP00000367756:P209R;ENSP00000367757:P209R	ENSP00000367756:P209R	P	+	2	0	UNC13B	35285792	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.741000	0.93983	0.585000	0.79938	CCC		0.542	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
RUSC2	9853	hgsc.bcm.edu	37	9	35560334	35560334	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:35560334G>T	ENST00000455600.1	+	10	4266	c.3697G>T	c.(3697-3699)Ggt>Tgt	p.G1233C	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1233						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)	p.G1233C(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGGGTGTGGGTGCCTCaga	0.697																																					p.G1233C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3697T	9						.						14.0	17.0	16.0					9																	35560334		2190	4263	6453	35550334	SO:0001583	missense	9853	exon10			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3697G>T	9.37:g.35560334G>T	ENSP00000393922:p.Gly1233Cys	Somatic		Capture	SOLID	Phase_I	35550334	NM_014806	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730536	0.69074	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.32272	1.46;1.46	5.41	5.41	0.78517	.	0.215505	0.49305	D	0.000148	T	0.45478	0.1344	L	0.32530	0.975	0.58432	D	0.999998	D	0.89917	1.0	D	0.76575	0.988	T	0.38887	-0.9640	10	0.62326	D	0.03	-12.9979	15.9217	0.79580	0.0:0.0:1.0:0.0	.	1233	Q8N2Y8	RUSC2_HUMAN	C	1233	ENSP00000355177:G1233C;ENSP00000393922:G1233C	ENSP00000355177:G1233C	G	+	1	0	RUSC2	35550334	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.563000	0.82314	2.534000	0.85438	0.561000	0.74099	GGT		0.697	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462	
TESK1	7016	hgsc.bcm.edu	37	9	35607950	35607950	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:35607950T>C	ENST00000336395.5	+	7	987	c.737T>C	c.(736-738)gTc>gCc	p.V246A	TESK1_ENST00000498522.1_3'UTR|MIR4667_ENST00000578933.1_RNA|CD72_ENST00000490239.1_5'Flank	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.V246A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCGGGATTGTCCTCTGTGAG	0.458																																					p.V246A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T737C	9						.						109.0	103.0	105.0					9																	35607950		2203	4300	6503	35597950	SO:0001583	missense	7016	exon7			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.737T>C	9.37:g.35607950T>C	ENSP00000338127:p.Val246Ala	Somatic		Capture	SOLID	Phase_I	35597950	NM_006285	Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.828098	0.90955	.	.	ENSG00000107140	ENST00000336395	T	0.70282	-0.47	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38548	N	0.001648	D	0.84835	0.5560	M	0.90425	3.115	0.43803	D	0.996359	D;D	0.60160	0.969;0.987	P;P	0.62298	0.867;0.9	D	0.87961	0.2730	10	0.87932	D	0	-18.7681	12.814	0.57654	0.0:0.0:0.0:1.0	.	164;246	B4DQQ3;Q15569	.;TESK1_HUMAN	A	246	ENSP00000338127:V246A	ENSP00000338127:V246A	V	+	2	0	TESK1	35597950	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.368000	0.79567	2.052000	0.61016	0.459000	0.35465	GTC		0.458	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285	
SIT1	27240	hgsc.bcm.edu	37	9	35650554	35650554	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:35650554C>T	ENST00000259608.3	-	2	267	c.181G>A	c.(181-183)Gca>Aca	p.A61T	SIT1_ENST00000474403.1_Intron	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	61					immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	kinase binding (GO:0019900)|SH2 domain binding (GO:0042169)	p.A61T(1)		endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACAAGTGTGCAGCCAGCGAG	0.597																																					p.A61T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G181A	9						.						68.0	77.0	74.0					9																	35650554		2203	4300	6503	35640554	SO:0001583	missense	27240	exon2				CCDS6582.1	9p13-p12	2008-02-05	2005-04-26		ENSG00000137078	ENSG00000137078			17710	protein-coding gene	gene with protein product	"""SHP2 interacting transmembrane adaptor"""	604964	"""suppression inducing transmembrane adaptor 1"""			11491537, 10209036	Standard	NM_014450		Approved	SIT	uc003zxe.1	Q9Y3P8	OTTHUMG00000019867	ENST00000259608.3:c.181G>A	9.37:g.35650554C>T	ENSP00000259608:p.Ala61Thr	Somatic		Capture	SOLID	Phase_I	35640554	NM_014450	B2RBP9	Missense_Mutation	SNP	ENST00000259608.3	37	CCDS6582.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974732	0.53720	.	.	ENSG00000137078	ENST00000259608	T	0.50548	0.74	4.88	3.0	0.34707	.	0.525045	0.15898	N	0.239228	T	0.32102	0.0818	L	0.27053	0.805	0.31129	N	0.707997	B	0.16802	0.019	B	0.14023	0.01	T	0.31861	-0.9928	10	0.62326	D	0.03	-4.0828	6.8516	0.24018	0.0:0.7926:0.0:0.2074	.	61	Q9Y3P8	SIT1_HUMAN	T	61	ENSP00000259608:A61T	ENSP00000259608:A61T	A	-	1	0	SIT1	35640554	0.650000	0.27331	0.977000	0.42913	0.842000	0.47809	0.025000	0.13577	1.181000	0.42912	0.591000	0.81541	GCA		0.597	SIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052322.1	NM_014450	
TPM2	7169	hgsc.bcm.edu	37	9	35685704	35685704	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:35685704C>T	ENST00000360958.2	-	3	418	c.314G>A	c.(313-315)cGc>cAc	p.R105H	TPM2_ENST00000378300.5_Missense_Mutation_p.R105H|TPM2_ENST00000329305.2_Missense_Mutation_p.R105H|TPM2_ENST00000378292.3_Missense_Mutation_p.R105H	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	105					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.R105H(2)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGTAGCCAGGCGCTCCTGGGC	0.657																																					p.R105H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G314A	9						.						39.0	43.0	42.0					9																	35685704		2203	4300	6503	35675704	SO:0001583	missense	7169	exon3				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.314G>A	9.37:g.35685704C>T	ENSP00000354219:p.Arg105His	Somatic		Capture	SOLID	Phase_I	35675704	NM_213674	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042354	0.93685	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.11	5.11	0.69529	.	.	.	.	.	D	0.94238	0.8150	H	0.97896	4.1	0.58432	D	0.999999	D;B;B;D;P	0.60160	0.987;0.34;0.376;0.975;0.913	P;B;B;P;P	0.62014	0.897;0.349;0.206;0.831;0.778	D	0.96232	0.9169	9	0.87932	D	0	.	18.3262	0.90255	0.0:1.0:0.0:0.0	.	105;105;105;105;105	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	H	105	ENSP00000367550:R105H;ENSP00000367542:R105H;ENSP00000367541:R105H;ENSP00000354219:R105H	ENSP00000367541:R105H	R	-	2	0	TPM2	35675704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.647000	0.83462	2.654000	0.90174	0.561000	0.74099	CGC		0.657	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289	
GBA2	57704	hgsc.bcm.edu	37	9	35739670	35739670	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:35739670G>T	ENST00000378103.3	-	9	2060	c.1537C>A	c.(1537-1539)Ctc>Atc	p.L513I	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000378094.4_Missense_Mutation_p.L513I|GBA2_ENST00000545786.1_Missense_Mutation_p.L519I	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	513					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.L513I(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTGGGGCGGAGGTGACACATG	0.562																																					p.L513I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1537A	9						.						81.0	68.0	72.0					9																	35739670		2203	4300	6503	35729670	SO:0001583	missense	57704	exon9			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1537C>A	9.37:g.35739670G>T	ENSP00000367343:p.Leu513Ile	Somatic		Capture	SOLID	Phase_I	35729670	NM_020944	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295881	0.23564	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.5	5.5	0.81552	Six-hairpin glycosidase-like (1);	0.201554	0.45867	D	0.000333	T	0.50240	0.1604	L	0.44542	1.39	0.36740	D	0.882199	P;P;P	0.48294	0.822;0.908;0.728	B;P;B	0.46543	0.359;0.52;0.196	T	0.53187	-0.8474	9	0.30078	T	0.28	-18.5986	14.0886	0.64975	0.0:0.0:0.8496:0.1504	.	519;513;513	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	I	513;513;519	.	ENSP00000367334:L513I	L	-	1	0	GBA2	35729670	1.000000	0.71417	0.983000	0.44433	0.005000	0.04900	6.237000	0.72345	2.861000	0.98227	0.655000	0.94253	CTC		0.562	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944	
NMRK1	54981	hgsc.bcm.edu	37	9	77683973	77683973	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:77683973G>A	ENST00000361092.4	-	7	671	c.435C>T	c.(433-435)ggC>ggT	p.G145G	NMRK1_ENST00000376811.1_Silent_p.G149G|NMRK1_ENST00000482537.1_5'Flank|NMRK1_ENST00000376808.4_Silent_p.G121G	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	145					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										GCCACACATGGCCATCAAAGT	0.418																																					p.G145G												.	.	0			c.C435T	9						.						130.0	116.0	121.0					9																	77683973		2203	4300	6503	76873793	SO:0001819	synonymous_variant	54981	exon7			AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"""chromosome 9 open reading frame 95"""	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.435C>T	9.37:g.77683973G>A		Somatic		Capture	SOLID	Phase_I	76873793	NM_017881	Q5W124|Q8N430	Silent	SNP	ENST00000361092.4	37	CCDS6650.1																																																																																				0.418	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881	
PSAT1	29968	hgsc.bcm.edu	37	9	80919698	80919698	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:80919698G>A	ENST00000376588.3	+	4	307	c.239G>A	c.(238-240)tGc>tAc	p.C80Y	PSAT1_ENST00000347159.2_Missense_Mutation_p.C80Y	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	80	Pyridoxal phosphate binding. {ECO:0000250}.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)	p.C80Y(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						GGAGGTGGGTGCGGCCAGTTC	0.483																																					p.C80Y	Colon(34;187 791 10662 18313 37609)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G239A	9						.						122.0	115.0	117.0					9																	80919698		2203	4300	6503	80109518	SO:0001583	missense	29968	exon4			BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.239G>A	9.37:g.80919698G>A	ENSP00000365773:p.Cys80Tyr	Somatic		Capture	SOLID	Phase_I	80109518	NM_058179	Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	8.637	0.895098	0.17613	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	T;T	0.62498	0.02;0.02	5.52	-4.21	0.03812	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.690835	0.15246	N	0.272598	T	0.53286	0.1787	N	0.08118	0	0.09310	N	1	B;B	0.27450	0.134;0.179	B;B	0.38020	0.145;0.263	T	0.44283	-0.9338	10	0.66056	D	0.02	-19.3241	28.5012	0.99999	0.0:0.169:0.831:0.0	.	80;80	Q9Y617-2;Q9Y617	.;SERC_HUMAN	Y	80	ENSP00000317606:C80Y;ENSP00000365773:C80Y	ENSP00000317606:C80Y	C	+	2	0	PSAT1	80109518	0.996000	0.38824	0.001000	0.08648	0.234000	0.25298	1.115000	0.31209	-1.280000	0.02402	-1.149000	0.01842	TGC		0.483	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154	
HNRNPK	3190	hgsc.bcm.edu	37	9	86589500	86589500	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:86589500A>T	ENST00000376264.2	-	7	520	c.262T>A	c.(262-264)Ttg>Atg	p.L88M	HNRNPK_ENST00000376263.3_Missense_Mutation_p.L88M|HNRNPK_ENST00000360384.5_Missense_Mutation_p.L88M|HNRNPK_ENST00000351839.3_Missense_Mutation_p.L88M|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376281.4_Missense_Mutation_p.L88M	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	88	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)	p.L88M(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CTGATACTCAATATGCTGTCA	0.328																																					p.L88M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T262A	9						.						58.0	55.0	56.0					9																	86589500		2203	4299	6502	85779320	SO:0001583	missense	3190	exon7				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.262T>A	9.37:g.86589500A>T	ENSP00000365440:p.Leu88Met	Somatic		Capture	SOLID	Phase_I	85779320	NM_002140	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	A	9.558	1.117635	0.20877	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.71	4.58	0.56647	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	M	0.83603	2.65	0.47819	D	0.999529	B;B;B;P;B;B;B;B	0.48998	0.035;0.014;0.23;0.918;0.268;0.069;0.23;0.314	B;B;B;B;B;B;B;B	0.43809	0.059;0.017;0.115;0.432;0.132;0.051;0.19;0.208	T	0.33879	-0.9851	10	0.49607	T	0.09	-1.8695	8.9198	0.35604	0.7923:0.0:0.2077:0.0	.	88;77;88;83;88;88;88;88	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	M	88;88;88;88;88;77;88;83;88;19	ENSP00000365458:L88M;ENSP00000365440:L88M;ENSP00000365439:L88M;ENSP00000317788:L88M;ENSP00000353552:L88M;ENSP00000409456:L88M	ENSP00000317788:L88M	L	-	1	2	HNRNPK	85779320	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.262000	0.58847	1.000000	0.39049	0.528000	0.53228	TTG		0.328	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2		
AGTPBP1	23287	hgsc.bcm.edu	37	9	88207489	88207489	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:88207489A>G	ENST00000357081.3	-	19	2698	c.2554T>C	c.(2554-2556)Tat>Cat	p.Y852H	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.Y864H|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.Y812H			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	852					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.Y812H(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AAAGTTGAATACGTATATGGA	0.279																																					p.Y812H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2434C	9						.						92.0	94.0	93.0					9																	88207489		2203	4297	6500	87397309	SO:0001583	missense	23287	exon19			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2554T>C	9.37:g.88207489A>G	ENSP00000349592:p.Tyr852His	Somatic		Capture	SOLID	Phase_I	87397309	NM_015239	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37		.	.	.	.	.	.	.	.	.	.	A	23.4	4.406404	0.83230	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.31510	1.49;1.51;1.49	5.87	5.87	0.94306	.	0.055154	0.85682	D	0.000000	T	0.60495	0.2273	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	0.968;1.0;1.0	P;D;D	0.97110	0.859;1.0;0.997	T	0.66288	-0.5961	10	0.87932	D	0	-20.7495	16.2567	0.82522	1.0:0.0:0.0:0.0	.	864;852;812	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	H	852;812;864	ENSP00000349592:Y852H;ENSP00000365251:Y812H;ENSP00000365277:Y864H	ENSP00000349592:Y852H	Y	-	1	0	AGTPBP1	87397309	1.000000	0.71417	0.898000	0.35279	0.990000	0.78478	9.339000	0.96797	2.242000	0.73789	0.482000	0.46254	TAT		0.279	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239	
CTSL	1514	hgsc.bcm.edu	37	9	90342580	90342580	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:90342580T>G	ENST00000343150.5	+	2	952	c.62T>G	c.(61-63)tTt>tGt	p.F21C	CTSL_ENST00000340342.6_Missense_Mutation_p.F21C|CTSL_ENST00000342020.5_Missense_Mutation_p.F21C|CTSL_ENST00000495822.1_3'UTR			P07711	CATL1_HUMAN	cathepsin L	21					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										ACTCTAACATTTGATCACAGT	0.443																																					p.F21C												.	.	0			c.T62G	9						.						121.0	109.0	113.0					9																	90342580		2203	4300	6503	89532400	SO:0001583	missense	1514	exon2			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.62T>G	9.37:g.90342580T>G	ENSP00000345344:p.Phe21Cys	Somatic		Capture	SOLID	Phase_I	89532400	NM_145918	Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.911906	0.33721	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020;ENST00000539280	T;T;T	0.22945	1.93;1.93;1.93	3.93	-0.0298	0.13917	.	1.195550	0.05799	N	0.611762	T	0.28300	0.0699	M	0.76170	2.325	0.09310	N	1	D	0.57899	0.981	B	0.43809	0.432	T	0.22173	-1.0224	10	0.40728	T	0.16	.	2.5927	0.04847	0.3397:0.1958:0.0:0.4645	.	21	P07711	CATL1_HUMAN	C	21	ENSP00000345344:F21C;ENSP00000365061:F21C;ENSP00000340470:F21C	ENSP00000365061:F21C	F	+	2	0	CTSL1	89532400	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.196000	0.09532	-0.187000	0.10516	0.397000	0.26171	TTT		0.443	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912	
CKS2	1164	hgsc.bcm.edu	37	9	91930145	91930145	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:91930145A>C	ENST00000314355.6	+	2	215	c.120A>C	c.(118-120)gaA>gaC	p.E40D	MIR3153_ENST00000580744.1_RNA	NM_001827.1	NP_001818.1	P33552	CKS2_HUMAN	CDC28 protein kinase regulatory subunit 2	40					cell proliferation (GO:0008283)|meiosis I (GO:0007127)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.E40D(1)		kidney(1)|large_intestine(1)	2						TGATGTCTGAAGAGGAGTGGA	0.418																																					p.E40D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A120C	9						.						143.0	133.0	137.0					9																	91930145		2203	4300	6503	91119965	SO:0001583	missense	1164	exon2			X54942	CCDS6682.1	9q22	2008-02-05	2002-10-07		ENSG00000123975	ENSG00000123975			2000	protein-coding gene	gene with protein product		116901	"""CDC28 protein kinase 2"""			2227411, 8697818	Standard	NM_001827		Approved		uc004aqh.3	P33552	OTTHUMG00000020180	ENST00000314355.6:c.120A>C	9.37:g.91930145A>C	ENSP00000364976:p.Glu40Asp	Somatic		Capture	SOLID	Phase_I	91119965	NM_001827	Q6FGI9|Q6LET5	Missense_Mutation	SNP	ENST00000314355.6	37	CCDS6682.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.687121	0.68157	.	.	ENSG00000123975	ENST00000314355	.	.	.	5.34	2.97	0.34412	.	0.056525	0.64402	D	0.000002	T	0.65821	0.2728	.	.	.	0.58432	D	0.999992	P	0.51240	0.943	P	0.54401	0.751	T	0.66674	-0.5864	8	0.66056	D	0.02	-22.2395	9.9217	0.41468	0.8616:0.0:0.1384:0.0	.	40	P33552	CKS2_HUMAN	D	40	.	ENSP00000364976:E40D	E	+	3	2	CKS2	91119965	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	1.986000	0.40677	0.555000	0.29079	0.528000	0.53228	GAA		0.418	CKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052988.1	NM_001827	
SEMA4D	10507	hgsc.bcm.edu	37	9	91993777	91993777	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:91993777G>T	ENST00000450295.1	-	16	3207	c.2431C>A	c.(2431-2433)Ctg>Atg	p.L811M	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.L811M|SEMA4D_ENST00000438547.2_Missense_Mutation_p.L811M|SEMA4D_ENST00000356444.2_Missense_Mutation_p.L811M			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	811					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.L811M(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCGGTGTCCAGGGCTGGCTTG	0.582																																					p.L811M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2431A	9						.						104.0	95.0	98.0					9																	91993777		2203	4300	6503	91183597	SO:0001583	missense	10507	exon18			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.2431C>A	9.37:g.91993777G>T	ENSP00000416523:p.Leu811Met	Somatic		Capture	SOLID	Phase_I	91183597	NM_006378	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019345	0.35606	.	.	ENSG00000187764	ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	4.86	1.94	0.25998	.	1.048630	0.07513	N	0.909275	T	0.18341	0.0440	L	0.32530	0.975	0.25898	N	0.98338	P	0.49961	0.93	B	0.42214	0.38	T	0.22836	-1.0205	10	0.54805	T	0.06	.	9.1684	0.37065	0.143:0.1239:0.7331:0.0	.	811	Q92854	SEM4D_HUMAN	M	811	ENSP00000416523:L811M;ENSP00000405102:L811M;ENSP00000348822:L811M;ENSP00000388768:L811M	ENSP00000348822:L811M	L	-	1	2	SEMA4D	91183597	1.000000	0.71417	0.962000	0.40283	0.226000	0.24999	4.686000	0.61700	0.731000	0.32448	0.462000	0.41574	CTG		0.582	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378	
PHF2	5253	hgsc.bcm.edu	37	9	96398789	96398789	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:96398789G>A	ENST00000359246.4	+	3	648	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	94					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R94Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AAGGAGCTGCGGAGCCGGACC	0.617																																					p.R94Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G281A	9						.						34.0	33.0	34.0					9																	96398789		2199	4294	6493	95438610	SO:0001583	missense	5253	exon3			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.281G>A	9.37:g.96398789G>A	ENSP00000352185:p.Arg94Gln	Somatic		Capture	SOLID	Phase_I	95438610	NM_005392	Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351197	0.61183	.	.	ENSG00000197724	ENST00000359246	T	0.70631	-0.5	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	L	0.28608	0.87	0.80722	D	1	B	0.32203	0.36	B	0.13407	0.009	T	0.56613	-0.7950	10	0.44086	T	0.13	-10.1166	11.3396	0.49525	0.0846:0.0:0.9154:0.0	.	94	O75151	PHF2_HUMAN	Q	94	ENSP00000352185:R94Q	ENSP00000352185:R94Q	R	+	2	0	PHF2	95438610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.193000	0.94954	2.533000	0.85409	0.561000	0.74099	CGG		0.617	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392	
ZNF510	22869	hgsc.bcm.edu	37	9	99521929	99521929	+	Nonsense_Mutation	SNP	G	G	A	rs146724922		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:99521929G>A	ENST00000375231.1	-	6	1833	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.R395*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R395*(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGACTTCTTCGGCGAACTCTG	0.403																																					p.R395X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1183T	9						.	G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	142.0	138.0	139.0		1183	2.9	0.5	9	dbSNP_134	139	0,8600		0,0,4300	yes	stop-gained	ZNF510	NM_014930.1		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		395/684	99521929	2,13004	2203	4300	6503	98561750	SO:0001587	stop_gained	22869	exon6			AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1183C>T	9.37:g.99521929G>A	ENSP00000364379:p.Arg395*	Somatic		Capture	SOLID	Phase_I	98561750	NM_014930	Q5SZP5	Nonsense_Mutation	SNP	ENST00000375231.1	37	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	g	41	8.690244	0.98916	4.54E-4	0.0	ENSG00000081386	ENST00000375231;ENST00000223428	.	.	.	2.91	2.91	0.33838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.0471	0.53485	0.0:0.0:1.0:0.0	.	.	.	.	X	395	.	ENSP00000223428:R395X	R	-	1	2	ZNF510	98561750	0.011000	0.17503	0.483000	0.27378	0.013000	0.08279	1.467000	0.35321	1.937000	0.56155	0.561000	0.74099	CGA		0.403	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930	
C9orf84	158401	hgsc.bcm.edu	37	9	114454237	114454240	+	Frame_Shift_Del	DEL	TTTA	TTTA	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	TTTA	TTTA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:114454237_114454240delTTTA	ENST00000318737.4	-	25	3953_3956	c.3825_3828delTAAA	c.(3823-3828)aataaafs	p.NK1275fs	C9orf84_ENST00000394777.4_Frame_Shift_Del_p.NK1201fs|C9orf84_ENST00000374287.3_Frame_Shift_Del_p.NK1275fs|C9orf84_ENST00000394779.3_Frame_Shift_Del_p.NK1236fs	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1275								p.N1275fs*10(1)|p.N1236fs*10(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCGATACATCTTTATTTATGAAAC	0.377																																					p.1275_1276del												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.3825_3828del	9						.																																			113494061	SO:0001589	frameshift_variant	158401	exon25			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3825_3828delTAAA	9.37:g.114454241_114454244delTTTA	ENSP00000322108:p.Asn1275fs	Somatic		Capture	SOLID	Phase_I	113494058	NM_173521	A2A2V3|Q2M1H8|Q96M73	Frame_Shift_Del	DEL	ENST00000318737.4	37	CCDS6781.3																																																																																				0.377	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
MRPS2	51116	hgsc.bcm.edu	37	9	138395416	138395416	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:138395416C>T	ENST00000371785.1	+	5	537	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	RP11-426A6.5_ENST00000415062.1_RNA|C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.R110C			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	110					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)	p.R110C(1)		large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CTTTGGGAGCCGCCTGGACCA	0.597																																					p.R110C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C328T	9						.						85.0	69.0	74.0					9																	138395416		2203	4300	6503	137535237	SO:0001583	missense	51116	exon4			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.328C>T	9.37:g.138395416C>T	ENSP00000360850:p.Arg110Cys	Somatic		Capture	SOLID	Phase_I	137535237	NM_016034	Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.740988	0.69304	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.28069	1.63;1.63;1.63	3.74	2.84	0.33178	Ribosomal protein S2, flavodoxin-like domain (1);	0.000000	0.85682	U	0.000000	T	0.67211	0.2869	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75202	-0.3401	10	0.87932	D	0	-35.5326	10.1782	0.42952	0.0:0.9015:0.0:0.0985	.	124;110	Q5T8A0;Q9Y399	.;RT02_HUMAN	C	110;110;124	ENSP00000360850:R110C;ENSP00000241600:R110C;ENSP00000400082:R124C	ENSP00000241600:R110C	R	+	1	0	MRPS2	137535237	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	5.000000	0.63940	0.801000	0.34066	0.638000	0.83543	CGC		0.597	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1		
CAMSAP1	157922	hgsc.bcm.edu	37	9	138710423	138710425	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	CTC	CTC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr9:138710423_138710425delCTC	ENST00000389532.4	-	13	4061_4063	c.3997_3999delGAG	c.(3997-3999)gagdel	p.E1333del	CAMSAP1_ENST00000409386.3_In_Frame_Del_p.E1344del|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_In_Frame_Del_p.E1055del	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1333					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.E1333delE(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCCGCGCCTTCTCCTCCTCCTTC	0.635																																					p.1333_1333del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.3997_3999del	9						.																																			137850246	SO:0001651	inframe_deletion	157922	exon13			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3997_3999delGAG	9.37:g.138710429_138710431delCTC	ENSP00000374183:p.Glu1333del	Somatic		Capture	SOLID	Phase_I	137850244	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	In_Frame_Del	DEL	ENST00000389532.4	37	CCDS35176.2																																																																																				0.635	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	
MYO16	23026	hgsc.bcm.edu	37	13	109540825	109540825	+	Splice_Site	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:109540825T>G	ENST00000357550.2	+	13	1634	c.1593T>G	c.(1591-1593)caT>caG	p.H531Q	MYO16_ENST00000356711.2_Splice_Site_p.H531Q|MYO16_ENST00000251041.5_Splice_Site_p.H531Q|MYO16_ENST00000457511.2_Splice_Site_p.H43Q	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GATTCAAACATGTAAGTTTTT	0.453																																					p.H553Q												.	.	0			c.T1659G	13						.						52.0	57.0	55.0					13																	109540825		2203	4300	6503	108338826	SO:0001630	splice_region_variant	23026	exon14				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1593+1T>G	13.37:g.109540825T>G		Somatic		Capture	SOLID	Phase_I	108338826	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	T	1.618	-0.522336	0.04141	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	5.18	-7.82	0.01205	Myosin head, motor domain (2);	0.175233	0.26563	U	0.023665	T	0.70527	0.3234	N	0.10782	0.045	0.46279	D	0.998968	B;B;P	0.43607	0.427;0.158;0.812	B;B;P	0.44921	0.132;0.069;0.464	T	0.71290	-0.4637	9	.	.	.	.	18.055	0.89362	0.0:0.7173:0.0:0.2827	.	43;531;531	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	Q	531;531;531;531;319;43	ENSP00000349145:H531Q;ENSP00000350160:H531Q;ENSP00000251041:H531Q;ENSP00000401633:H43Q	.	H	+	3	2	MYO16	108338826	0.131000	0.22433	0.153000	0.22517	0.455000	0.32408	-0.860000	0.04272	-1.744000	0.01338	0.533000	0.62120	CAT		0.453	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	Missense_Mutation
TEX29	121793	hgsc.bcm.edu	37	13	111980534	111980534	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:111980534T>C	ENST00000283547.1	+	3	192	c.63T>C	c.(61-63)tgT>tgC	p.C21C		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	21						integral component of membrane (GO:0016021)		p.C21C(1)									TTGCAGTGTGTGACGTTCCTC	0.542																																					p.C21C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T63C	13						.						153.0	125.0	135.0					13																	111980534		2203	4300	6503	110778535	SO:0001819	synonymous_variant	121793	exon3			BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.63T>C	13.37:g.111980534T>C		Somatic		Capture	SOLID	Phase_I	110778535	NM_152324		Silent	SNP	ENST00000283547.1	37	CCDS9522.1																																																																																				0.542	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324	
ATP11A	23250	hgsc.bcm.edu	37	13	113496637	113496637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:113496637C>T	ENST00000487903.1	+	17	1841	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	ATP11A_ENST00000375630.2_Nonsense_Mutation_p.R585*|ATP11A_ENST00000283558.8_Nonsense_Mutation_p.R585*|ATP11A_ENST00000375645.3_Nonsense_Mutation_p.R585*			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	585					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R585*(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GATATTCCCCCGAGTGATAGA	0.493																																					p.R585X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1753T	13						.						62.0	58.0	59.0					13																	113496637		2202	4299	6501	112544638	SO:0001587	stop_gained	23250	exon17			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1753C>T	13.37:g.113496637C>T	ENSP00000420387:p.Arg585*	Somatic		Capture	SOLID	Phase_I	112544638	NM_015205	Q5VXT2	Nonsense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	38	7.285096	0.98186	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	.	.	.	4.84	-0.465	0.12157	.	0.052196	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6752	0.85277	0.3256:0.6744:0.0:0.0	.	.	.	.	X	585;585;585;585;26	.	ENSP00000283558:R585X	R	+	1	2	ATP11A	112544638	0.593000	0.26840	0.582000	0.28627	0.435000	0.31806	1.030000	0.30153	-0.239000	0.09710	-0.457000	0.05445	CGA		0.493	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	
ATP12A	479	hgsc.bcm.edu	37	13	25281556	25281556	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:25281556C>G	ENST00000381946.3	+	17	2645	c.2478C>G	c.(2476-2478)gaC>gaG	p.D826E	ATP12A_ENST00000218548.6_Missense_Mutation_p.D832E			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	826					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TGTTCATTGACTTGGGGACAG	0.552																																					p.D832E	Pancreas(156;1582 1935 18898 22665 26498)											.	.	0			c.C2496G	13						.						157.0	147.0	151.0					13																	25281556		2203	4300	6503	24179556	SO:0001583	missense	479	exon17			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2478C>G	13.37:g.25281556C>G	ENSP00000371372:p.Asp826Glu	Somatic		Capture	SOLID	Phase_I	24179556	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482507	0.63962	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.95918	-3.85;-3.85	5.79	4.03	0.46877	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96352	0.8810	L	0.60067	1.865	0.58432	D	0.999997	B;D	0.76494	0.023;0.999	B;D	0.81914	0.045;0.995	D	0.95089	0.8220	10	0.49607	T	0.09	.	10.9127	0.47118	0.0:0.8667:0.0:0.1333	.	832;826	P54707-2;P54707	.;AT12A_HUMAN	E	832;826	ENSP00000218548:D832E;ENSP00000371372:D826E	ENSP00000218548:D832E	D	+	3	2	ATP12A	24179556	0.698000	0.27777	0.996000	0.52242	0.829000	0.46940	1.285000	0.33261	2.716000	0.92895	0.655000	0.94253	GAC		0.552	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
RASL11A	387496	hgsc.bcm.edu	37	13	27847358	27847358	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:27847358G>C	ENST00000241463.4	+	4	1074	c.456G>C	c.(454-456)ttG>ttC	p.L152F	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1			RAS-like, family 11, member A											breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		GGGACCTTTTGCATGCCCGGC	0.532																																					p.L152F												.	.	0			c.G456C	13						.						74.0	62.0	66.0					13																	27847358		2203	4300	6503	26745358	SO:0001583	missense	387496	exon4			AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000241463.4:c.456G>C	13.37:g.27847358G>C	ENSP00000241463:p.Leu152Phe	Somatic		Capture	SOLID	Phase_I	26745358	NM_206827		Missense_Mutation	SNP	ENST00000241463.4	37	CCDS9321.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224694	0.58668	.	.	ENSG00000122035	ENST00000241463	T	0.76968	-1.06	5.67	3.8	0.43715	Small GTP-binding protein domain (1);	0.134314	0.51477	D	0.000090	D	0.84424	0.5469	M	0.65975	2.015	0.52501	D	0.999956	D	0.54772	0.968	D	0.65684	0.937	D	0.84951	0.0871	10	0.56958	D	0.05	.	11.2401	0.48964	0.0:0.1537:0.643:0.2032	.	152	Q6T310	RSLBA_HUMAN	F	152	ENSP00000241463:L152F	ENSP00000241463:L152F	L	+	3	2	RASL11A	26745358	0.998000	0.40836	0.881000	0.34555	0.963000	0.63663	0.252000	0.18278	1.360000	0.45960	0.655000	0.94253	TTG		0.532	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044265.2	NM_206827	
FLT3	2322	hgsc.bcm.edu	37	13	28631560	28631560	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:28631560G>A	ENST00000241453.7	-	4	489	c.408C>T	c.(406-408)acC>acT	p.T136T	FLT3_ENST00000380982.4_Silent_p.T136T|FLT3_ENST00000537084.1_Silent_p.T136T	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	136					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCAGCTTGGGTTTCTGTCA	0.338			"""Mis, O"""		"""AML, ALL"""																																p.T136T			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	.	.	0			c.C408T	13						.						113.0	115.0	115.0					13																	28631560		2203	4300	6503	27529560	SO:0001819	synonymous_variant	2322	exon4			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.408C>T	13.37:g.28631560G>A		Somatic		Capture	SOLID	Phase_I	27529560	NM_004119	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	CCDS31953.1																																																																																				0.338	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
RXFP2	122042	hgsc.bcm.edu	37	13	32335913	32335913	+	Silent	SNP	C	C	T	rs531281283		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:32335913C>T	ENST00000298386.2	+	3	365	c.294C>T	c.(292-294)aaC>aaT	p.N98N	RXFP2_ENST00000380314.1_Silent_p.N98N	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	98					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.N98N(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GAAATGCTAACAGCGTGGCCT	0.398																																					p.N98N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C294T	13						.						153.0	133.0	139.0					13																	32335913		2203	4300	6503	31233913	SO:0001819	synonymous_variant	122042	exon3			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.294C>T	13.37:g.32335913C>T		Somatic		Capture	SOLID	Phase_I	31233913	NM_001166058	B1ALE9|Q3KU23	Silent	SNP	ENST00000298386.2	37	CCDS9342.1																																																																																				0.398	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806	
FREM2	341640	hgsc.bcm.edu	37	13	39266418	39266418	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:39266418T>C	ENST00000280481.7	+	1	5153	c.4937T>C	c.(4936-4938)aTc>aCc	p.I1646T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1646					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGATGAAGATCCAGGTCTTG	0.493																																					p.I1646T												.	.	0			c.T4937C	13						.						90.0	90.0	90.0					13																	39266418		2203	4300	6503	38164418	SO:0001583	missense	341640	exon1			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4937T>C	13.37:g.39266418T>C	ENSP00000280481:p.Ile1646Thr	Somatic		Capture	SOLID	Phase_I	38164418	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.459872	0.84317	.	.	ENSG00000150893	ENST00000280481	T	0.57107	0.42	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87518	0.2444	10	0.87932	D	0	.	15.6817	0.77373	0.0:0.0:0.0:1.0	.	1646	Q5SZK8	FREM2_HUMAN	T	1646	ENSP00000280481:I1646T	ENSP00000280481:I1646T	I	+	2	0	FREM2	38164418	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.036000	0.88901	2.124000	0.65301	0.460000	0.39030	ATC		0.493	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
FREM2	341640	hgsc.bcm.edu	37	13	39432170	39432170	+	Splice_Site	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:39432170A>C	ENST00000280481.7	+	13	7431	c.7215A>C	c.(7213-7215)acA>acC	p.T2405T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2405					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T2405T(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTGTATCACAGTGAGTAGGA	0.353																																					p.T2405T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A7215C	13						.						143.0	124.0	131.0					13																	39432170		2203	4300	6503	38330170	SO:0001630	splice_region_variant	341640	exon13			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7215+1A>C	13.37:g.39432170A>C		Somatic		Capture	SOLID	Phase_I	38330170	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																				0.353	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	Silent
FREM2	341640	hgsc.bcm.edu	37	13	39453005	39453005	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:39453005G>T	ENST00000280481.7	+	23	9113	c.8897G>T	c.(8896-8898)gGa>gTa	p.G2966V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2966					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G2966V(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACCAGTTTTGGAAATGTCCTA	0.453																																					p.G2966V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8897T	13						.						169.0	154.0	159.0					13																	39453005		2203	4300	6503	38351005	SO:0001583	missense	341640	exon23			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8897G>T	13.37:g.39453005G>T	ENSP00000280481:p.Gly2966Val	Somatic		Capture	SOLID	Phase_I	38351005	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856323	0.71834	.	.	ENSG00000150893	ENST00000280481	T	0.61980	0.06	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.81163	0.4765	M	0.84082	2.675	0.80722	D	1	D	0.67145	0.996	D	0.64595	0.927	T	0.82709	-0.0323	10	0.72032	D	0.01	.	20.139	0.98050	0.0:0.0:1.0:0.0	.	2966	Q5SZK8	FREM2_HUMAN	V	2966	ENSP00000280481:G2966V	ENSP00000280481:G2966V	G	+	2	0	FREM2	38351005	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	9.835000	0.99442	2.764000	0.94973	0.655000	0.94253	GGA		0.453	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
STOML3	161003	hgsc.bcm.edu	37	13	39546660	39546660	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:39546660G>C	ENST00000379631.4	-	4	645	c.301C>G	c.(301-303)Cct>Gct	p.P101A	STOML3_ENST00000423210.1_Missense_Mutation_p.P92A	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	101					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TCTTGTGGAGGAATGTTGCAA	0.333																																					p.P92A												.	.	0			c.C274G	13						.						161.0	144.0	149.0					13																	39546660		2203	4300	6503	38444660	SO:0001583	missense	161003	exon5			BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.301C>G	13.37:g.39546660G>C	ENSP00000368952:p.Pro101Ala	Somatic		Capture	SOLID	Phase_I	38444660	NM_001144033	B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319098	0.81469	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.94330	-3.4;-3.4	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.96543	0.8872	M	0.78801	2.425	0.80722	D	1	D;D	0.69078	0.993;0.997	D;D	0.67382	0.951;0.951	D	0.96625	0.9462	10	0.87932	D	0	-17.4803	18.6745	0.91524	0.0:0.0:1.0:0.0	.	92;101	B4E285;Q8TAV4	.;STML3_HUMAN	A	101;92	ENSP00000368952:P101A;ENSP00000401989:P92A	ENSP00000368952:P101A	P	-	1	0	STOML3	38444660	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	9.399000	0.97285	2.833000	0.97629	0.655000	0.94253	CCT		0.333	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2		
PROSER1	80209	hgsc.bcm.edu	37	13	39587764	39587764	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:39587764G>A	ENST00000352251.3	-	11	2458	c.1625C>T	c.(1624-1626)cCg>cTg	p.P542L	PROSER1_ENST00000350125.3_Missense_Mutation_p.P520L|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	542	Ser-rich.							p.P542L(1)									CACGGGAGACGGCAGGCCTGG	0.572																																					p.P520L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1559T	13						.						65.0	71.0	69.0					13																	39587764		2203	4300	6503	38485764	SO:0001583	missense	80209	exon10			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1625C>T	13.37:g.39587764G>A	ENSP00000332034:p.Pro542Leu	Somatic		Capture	SOLID	Phase_I	38485764	NM_170719	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740513	0.49045	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.64085	-0.08;-0.08	5.31	4.44	0.53790	.	.	.	.	.	T	0.48589	0.1508	L	0.32530	0.975	0.09310	N	1	P;P	0.51791	0.948;0.683	B;B	0.37047	0.24;0.084	T	0.29792	-1.0000	8	.	.	.	-7.4438	13.9596	0.64170	0.0:0.0:0.8423:0.1577	.	520;542	A6NJ97;Q86XN7	.;PRSR1_HUMAN	L	542;520	ENSP00000332034:P542L;ENSP00000339123:P520L	.	P	-	2	0	PROSER1	38485764	0.997000	0.39634	0.002000	0.10522	0.083000	0.17756	2.382000	0.44345	1.153000	0.42468	0.561000	0.74099	CCG		0.572	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138	
NAA16	79612	hgsc.bcm.edu	37	13	41894869	41894869	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:41894869G>A	ENST00000379406.3	+	4	635	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	NAA16_ENST00000379367.3_Missense_Mutation_p.R104Q|NAA16_ENST00000403412.3_Missense_Mutation_p.R104Q	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	104					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.R104Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AAATGTTACCGAAATGCCCTC	0.368																																					p.R104Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G311A	13						.						82.0	81.0	82.0					13																	41894869		2203	4300	6503	40792869	SO:0001583	missense	79612	exon4			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.311G>A	13.37:g.41894869G>A	ENSP00000368716:p.Arg104Gln	Somatic		Capture	SOLID	Phase_I	40792869	NM_024561	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185741	0.94885	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.59906	0.23;0.23;0.23	4.99	4.99	0.66335	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.53938	D	0.000046	T	0.69575	0.3126	L	0.47716	1.5	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.989	T	0.63283	-0.6672	10	0.21014	T	0.42	-6.3732	18.4393	0.90660	0.0:0.0:1.0:0.0	.	104;104;104	Q6N069;Q6N069-4;Q6N069-5	NAA16_HUMAN;.;.	Q	104	ENSP00000368674:R104Q;ENSP00000368716:R104Q;ENSP00000386103:R104Q	ENSP00000368674:R104Q	R	+	2	0	NAA16	40792869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.010000	0.93611	2.588000	0.87417	0.655000	0.94253	CGA		0.368	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527	
ZC3H13	23091	hgsc.bcm.edu	37	13	46577302	46577302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:46577302G>A	ENST00000242848.4	-	8	1264	c.916C>T	c.(916-918)Cga>Tga	p.R306*	ZC3H13_ENST00000470308.1_5'UTR|ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R306*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	306							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R306*(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTCTTTGTCGTTCAAAATCT	0.318																																					p.R306X	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C916T	13						.						194.0	183.0	186.0					13																	46577302		2203	4300	6503	45475303	SO:0001587	stop_gained	23091	exon8			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.916C>T	13.37:g.46577302G>A	ENSP00000242848:p.Arg306*	Somatic		Capture	SOLID	Phase_I	45475303	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	G	40	8.186790	0.98696	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	.	.	.	5.62	4.44	0.53790	.	0.087453	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.177	0.59633	0.0:0.0:0.1347:0.8653	.	.	.	.	X	306;306;122	.	ENSP00000242848:R306X	R	-	1	2	ZC3H13	45475303	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.715000	0.68430	1.069000	0.40788	-0.256000	0.11100	CGA		0.318	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
RCBTB2	1102	hgsc.bcm.edu	37	13	49084816	49084816	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:49084816C>T	ENST00000344532.3	-	10	1298	c.875G>A	c.(874-876)gGc>gAc	p.G292D	RCBTB2_ENST00000481144.1_5'Flank|RCBTB2_ENST00000430805.2_Missense_Mutation_p.G297D|RCBTB2_ENST00000544904.1_Intron|RCBTB2_ENST00000544492.1_Intron	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	292					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.G292D(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GCTTTTATTGCCAGTGCCCAA	0.498																																					p.G292D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G875A	13						.						124.0	113.0	116.0					13																	49084816		2203	4300	6503	47982817	SO:0001583	missense	1102	exon10			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.875G>A	13.37:g.49084816C>T	ENSP00000345144:p.Gly292Asp	Somatic		Capture	SOLID	Phase_I	47982817	NM_001268	B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099580	0.94197	.	.	ENSG00000136161	ENST00000344532;ENST00000452987;ENST00000430805	D;D	0.84298	-1.83;-1.83	5.81	5.81	0.92471	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.93612	0.7960	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.951	D	0.93110	0.6516	10	0.49607	T	0.09	.	20.0628	0.97684	0.0:1.0:0.0:0.0	.	297;292	B4DWG0;O95199	.;RCBT2_HUMAN	D	292;297;297	ENSP00000345144:G292D;ENSP00000389910:G297D	ENSP00000345144:G292D	G	-	2	0	RCBTB2	47982817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.745000	0.94114	0.655000	0.94253	GGC		0.498	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268	
CYSLTR2	57105	hgsc.bcm.edu	37	13	49281360	49281360	+	Missense_Mutation	SNP	G	G	A	rs201503697		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:49281360G>A	ENST00000282018.3	+	1	410	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	136					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)	p.R136H(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	AGTGTTGTGCGTTTCCTGGCA	0.473																																					p.R136H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G407A	13						.	G	HIS/ARG	0,4406		0,0,2203	224.0	214.0	217.0		407	6.1	1.0	13		217	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYSLTR2	NM_020377.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	136/347	49281360	1,13005	2203	4300	6503	48179361	SO:0001583	missense	57105	exon1			AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.407G>A	13.37:g.49281360G>A	ENSP00000282018:p.Arg136His	Somatic		Capture	SOLID	Phase_I	48179361	NM_020377	Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482943	0.96307	0.0	1.16E-4	ENSG00000152207	ENST00000282018	D	0.97161	-4.27	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.99121	0.9697	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99078	1.0836	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	136	Q9NS75	CLTR2_HUMAN	H	136	ENSP00000282018:R136H	ENSP00000282018:R136H	R	+	2	0	CYSLTR2	48179361	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.977000	0.88081	2.894000	0.99253	0.655000	0.94253	CGT		0.473	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1		
MYCBP2	23077	hgsc.bcm.edu	37	13	77750754	77750754	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:77750754C>T	ENST00000544440.2	-	36	5253	c.5236G>A	c.(5236-5238)Gca>Aca	p.A1746T	MYCBP2_ENST00000407578.2_Missense_Mutation_p.A1784T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A1746T|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase									p.A1746T(1)|p.A1784T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAATCTCCTGCATGTTCACTC	0.313																																					p.A1784T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5350A	13						.						95.0	81.0	86.0					13																	77750754		2203	4300	6503	76648755	SO:0001583	missense	23077	exon36			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.5236G>A	13.37:g.77750754C>T	ENSP00000444596:p.Ala1746Thr	Somatic		Capture	SOLID	Phase_I	76648755	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	C	1.723	-0.496191	0.04291	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.27402	1.67;1.67;1.67	5.52	2.64	0.31445	PHR (1);	0.346259	0.30538	N	0.009411	T	0.15219	0.0367	N	0.22421	0.69	0.25479	N	0.987755	B	0.06786	0.001	B	0.06405	0.002	T	0.30179	-0.9987	10	0.07482	T	0.82	.	6.9939	0.24772	0.5494:0.3548:0.0:0.0959	.	1746	O75592	MYCB2_HUMAN	T	1746;1784;1746	ENSP00000349892:A1746T;ENSP00000384288:A1784T;ENSP00000444596:A1746T	ENSP00000349892:A1746T	A	-	1	0	MYCBP2	76648755	1.000000	0.71417	0.926000	0.36857	0.664000	0.39144	1.261000	0.32980	0.620000	0.30215	0.650000	0.86243	GCA		0.313	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
POU4F1	5457	hgsc.bcm.edu	37	13	79175575	79175575	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:79175575C>T	ENST00000377208.5	-	2	1446	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000444769.3_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	412					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.R412Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GAATTTCATCCGCTTCTGCTT	0.587																																					p.R412Q	Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1235A	13						.						78.0	74.0	75.0					13																	79175575		2203	4300	6503	78073576	SO:0001583	missense	5457	exon2			X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1235G>A	13.37:g.79175575C>T	ENSP00000366413:p.Arg412Gln	Somatic		Capture	SOLID	Phase_I	78073576	NM_006237	Q14986|Q15318|Q5T227	Missense_Mutation	SNP	ENST00000377208.5	37	CCDS31996.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172833	0.78452	.	.	ENSG00000152192	ENST00000377208	D	0.96587	-4.06	4.35	4.35	0.52113	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.119302	0.52532	D	0.000076	D	0.98239	0.9417	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99560	1.0968	10	0.87932	D	0	.	16.8947	0.86097	0.0:1.0:0.0:0.0	.	412	Q01851	PO4F1_HUMAN	Q	412	ENSP00000366413:R412Q	ENSP00000366413:R412Q	R	-	2	0	POU4F1	78073576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.159000	0.67721	0.499000	0.49734	CGG		0.587	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3		
GPC6	10082	hgsc.bcm.edu	37	13	94938703	94938703	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:94938703G>A	ENST00000377047.4	+	5	1593	c.978G>A	c.(976-978)atG>atA	p.M326I		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	326					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.M326I(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TTATGAACATGCAAGAAAACA	0.423																																					p.M326I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G978A	13						.						106.0	94.0	98.0					13																	94938703		2203	4300	6503	93736704	SO:0001583	missense	10082	exon5			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.978G>A	13.37:g.94938703G>A	ENSP00000366246:p.Met326Ile	Somatic		Capture	SOLID	Phase_I	93736704	NM_005708	A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958484	0.92726	.	.	ENSG00000183098	ENST00000377047	T	0.51071	0.72	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.68979	0.3060	M	0.87269	2.87	0.53005	D	0.999966	P;P	0.38395	0.629;0.607	B;P	0.51945	0.439;0.685	T	0.65026	-0.6268	10	0.21540	T	0.41	.	19.7123	0.96100	0.0:0.0:1.0:0.0	.	326;326	B4E2M1;Q9Y625	.;GPC6_HUMAN	I	326	ENSP00000366246:M326I	ENSP00000366246:M326I	M	+	3	0	GPC6	93736704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.464000	0.97655	2.661000	0.90470	0.585000	0.79938	ATG		0.423	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708	
DCT	1638	hgsc.bcm.edu	37	13	95112366	95112366	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:95112366G>A	ENST00000377028.5	-	6	1571	c.1158C>T	c.(1156-1158)gcC>gcT	p.A386A	DCT_ENST00000446125.1_Silent_p.A386A|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	386					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.A386A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GATCATTGGCGGCTGAATGTG	0.363																																					p.A386A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1158T	13						.						81.0	80.0	80.0					13																	95112366		2203	4300	6503	93910367	SO:0001819	synonymous_variant	1638	exon6			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1158C>T	13.37:g.95112366G>A		Somatic		Capture	SOLID	Phase_I	93910367	NM_001922	Q09GT4	Silent	SNP	ENST00000377028.5	37	CCDS9470.1																																																																																				0.363	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
IPO5	3843	hgsc.bcm.edu	37	13	98655254	98655254	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:98655254A>G	ENST00000490680.1	+	13	1525	c.1460A>G	c.(1459-1461)aAa>aGa	p.K487R	IPO5_ENST00000539640.1_Missense_Mutation_p.K362R|IPO5_ENST00000261574.5_Missense_Mutation_p.K505R			O00410	IPO5_HUMAN	importin 5	487					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.K505R(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AATTTGGTGAAACATCTGCAT	0.413																																					p.K505R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1514G	13						.						164.0	159.0	160.0					13																	98655254		2203	4300	6503	97453255	SO:0001583	missense	3843	exon16			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1460A>G	13.37:g.98655254A>G	ENSP00000418393:p.Lys487Arg	Somatic		Capture	SOLID	Phase_I	97453255	NM_002271	B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.76|13.76	2.333537|2.333537	0.41297|0.41297	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.68331|.	-0.32;-0.32;-0.32;-0.32|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.147423|.	0.64402|.	D|.	0.000010|.	T|T	0.29491|0.29491	0.0735|0.0735	N|N	0.01576|0.01576	-0.805|-0.805	0.50632|0.50632	D|D	0.999885|0.999885	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.08055|.	0.002;0.001;0.003|.	T|T	0.33828|0.33828	-0.9853|-0.9853	10|5	0.20046|.	T|.	0.44|.	-4.3554|-4.3554	15.7846|15.7846	0.78291|0.78291	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	362;487;505|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	R|D	505;487;487;362|489	ENSP00000261574:K505R;ENSP00000350219:K487R;ENSP00000418393:K487R;ENSP00000445126:K362R|.	ENSP00000261574:K505R|.	K|N	+|+	2|1	0|0	IPO5|IPO5	97453255|97453255	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	9.257000|9.257000	0.95545|0.95545	2.123000|2.123000	0.65237|0.65237	0.460000|0.460000	0.39030|0.39030	AAA|AAC		0.413	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271	
RNF113B	140432	hgsc.bcm.edu	37	13	98828901	98828901	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:98828901T>A	ENST00000267291.6	-	1	618	c.590A>T	c.(589-591)aAg>aTg	p.K197M	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	197							zinc ion binding (GO:0008270)	p.K197M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CTTGTAGTCCTTGCAGATGTC	0.602																																					p.K197M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A590T	13						.						79.0	73.0	75.0					13																	98828901		2203	4300	6503	97626902	SO:0001583	missense	140432	exon1			AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.590A>T	13.37:g.98828901T>A	ENSP00000267291:p.Lys197Met	Somatic		Capture	SOLID	Phase_I	97626902	NM_178861	Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867885	0.51588	.	.	ENSG00000139797	ENST00000267291	T	0.48836	0.8	1.17	1.17	0.20885	Zinc finger, CCCH-type (3);	0.000000	0.85682	U	0.000000	T	0.73410	0.3583	H	0.96748	3.875	0.50813	D	0.999895	D	0.89917	1.0	D	0.91635	0.999	T	0.74328	-0.3701	10	0.87932	D	0	.	6.4353	0.21819	0.0:0.0:0.0:1.0	.	197	Q8IZP6	R113B_HUMAN	M	197	ENSP00000267291:K197M	ENSP00000267291:K197M	K	-	2	0	RNF113B	97626902	1.000000	0.71417	0.935000	0.37517	0.704000	0.40688	5.235000	0.65348	0.780000	0.33566	0.402000	0.26972	AAG		0.602	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861	
ADPRHL1	113622	hgsc.bcm.edu	37	13	114098786	114098786	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr13:114098786C>T	ENST00000375418.3	-	2	419	c.333G>A	c.(331-333)aaG>aaA	p.K111K	ADPRHL1_ENST00000356501.4_Silent_p.K29K	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	111					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			AGTTATTGGGCTTTAGCTGAG	0.547																																					p.K29K												.	.	0			c.G87A	13						.						250.0	232.0	238.0					13																	114098786		2203	4300	6503	113146787	SO:0001819	synonymous_variant	113622	exon2			AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.333G>A	13.37:g.114098786C>T		Somatic		Capture	SOLID	Phase_I	113146787	NM_199162	Q5JUG2|Q96GD1	Silent	SNP	ENST00000375418.3	37	CCDS9535.1																																																																																				0.547	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430	
HPS1	3257	hgsc.bcm.edu	37	10	100190999	100190999	+	Missense_Mutation	SNP	G	G	A	rs1801286	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:100190999G>A	ENST00000325103.6	-	7	790	c.557C>T	c.(556-558)gCg>gTg	p.A186V	HPS1_ENST00000361490.4_Missense_Mutation_p.A186V|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Missense_Mutation_p.A186V|MIR4685_ENST00000578185.1_RNA	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	186			A -> V (in dbSNP:rs1801286).		blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.A186V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCGCTCCAGCGCCTCTATGCA	0.642									Hermansky-Pudlak syndrome				G|||	30	0.00599042	0.0	0.0043	5008	,	,		20709	0.0		0.001	False		,,,				2504	0.0266				p.A186V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C557T	10						.	G	VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	44.0	41.0	42.0		557,557	1.4	0.2	10	dbSNP_89	42	15,8585	10.5+/-38.8	0,15,4285	yes	missense,missense	HPS1	NM_000195.3,NM_182639.2	64,64	0,17,6486	AA,AG,GG		0.1744,0.0454,0.1307	benign,benign	186/701,186/325	100190999	17,12989	2203	4300	6503	100180989	SO:0001583	missense	3257	exon7	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.557C>T	10.37:g.100190999G>A	ENSP00000326649:p.Ala186Val	Somatic		Capture	SOLID	Phase_I	100180989	NM_182639	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	CCDS7475.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	5.375	0.254364	0.10185	4.54E-4	0.001744	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000359632;ENST00000338546	T;T;T;T	0.41065	1.64;1.64;1.01;1.64	5.3	1.37	0.22104	.	0.314930	0.37304	N	0.002153	T	0.17066	0.0410	N	0.17474	0.49	0.27811	N	0.942158	B;B;B;B	0.30068	0.021;0.267;0.021;0.012	B;B;B;B	0.19391	0.01;0.025;0.01;0.016	T	0.29488	-1.0010	10	0.02654	T	1	.	7.0549	0.25093	0.5083:0.0:0.4917:0.0	rs1801286	186;186;186;186	Q92902;Q92902-3;Q8WXE5;D3DR62	HPS1_HUMAN;.;.;.	V	186;186;186;14;186	ENSP00000326649:A186V;ENSP00000355310:A186V;ENSP00000352652:A14V;ENSP00000343638:A186V	ENSP00000326649:A186V	A	-	2	0	HPS1	100180989	0.994000	0.37717	0.192000	0.23308	0.886000	0.51366	2.749000	0.47492	0.629000	0.30376	-0.258000	0.10820	GCG		0.642	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639	
DNMBP	23268	hgsc.bcm.edu	37	10	101648644	101648644	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:101648644G>T	ENST00000324109.4	-	12	3314	c.3223C>A	c.(3223-3225)Cgg>Agg	p.R1075R	DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000543621.1_Silent_p.R321R|DNMBP_ENST00000342239.3_Silent_p.R1099R|DNMBP_ENST00000540316.1_Silent_p.R11R	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1075	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1075R(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCCAGGTCCCGGTGTCCTCTC	0.512																																					p.R1075R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3223A	10						.						110.0	93.0	99.0					10																	101648644		2203	4300	6503	101638634	SO:0001819	synonymous_variant	23268	exon12			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3223C>A	10.37:g.101648644G>T		Somatic		Capture	SOLID	Phase_I	101638634	NM_015221	Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	CCDS7485.1																																																																																				0.512	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
DNMBP	23268	hgsc.bcm.edu	37	10	101668830	101668830	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:101668830C>T	ENST00000324109.4	-	5	2425	c.2334G>A	c.(2332-2334)gaG>gaA	p.E778E	DNMBP_ENST00000543621.1_Silent_p.E24E|DNMBP_ENST00000342239.3_Silent_p.E778E	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	778					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E778E(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCATCCTCTGCTCTGGATTTT	0.493																																					p.E778E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2334A	10						.						81.0	73.0	76.0					10																	101668830		2203	4300	6503	101658820	SO:0001819	synonymous_variant	23268	exon5			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2334G>A	10.37:g.101668830C>T		Somatic		Capture	SOLID	Phase_I	101658820	NM_015221	Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	CCDS7485.1																																																																																				0.493	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
PPRC1	23082	hgsc.bcm.edu	37	10	103901601	103901601	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:103901601G>C	ENST00000278070.2	+	5	3375	c.3336G>C	c.(3334-3336)aaG>aaC	p.K1112N	PPRC1_ENST00000370012.1_Missense_Mutation_p.K79N|PPRC1_ENST00000413464.2_Missense_Mutation_p.K1112N|PPRC1_ENST00000489648.1_3'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1112	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K1112N(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCAGGGAGAAGCCCCCCTTGC	0.592																																					p.K1112N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3336C	10						.						61.0	60.0	60.0					10																	103901601		2203	4300	6503	103891591	SO:0001583	missense	23082	exon5			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3336G>C	10.37:g.103901601G>C	ENSP00000278070:p.Lys1112Asn	Somatic		Capture	SOLID	Phase_I	103891591	NM_015062	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296520	0.40594	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.34667	1.74;1.66;1.35	5.74	3.53	0.40419	.	0.368616	0.25414	N	0.030859	T	0.37625	0.1010	L	0.29908	0.895	0.35671	D	0.813316	D;D;D	0.64830	0.994;0.993;0.987	P;P;P	0.56278	0.795;0.738;0.551	T	0.45512	-0.9256	10	0.40728	T	0.16	.	9.904	0.41364	0.2038:0.0:0.7962:0.0	.	1112;992;1112	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	N	1112;1112;79	ENSP00000278070:K1112N;ENSP00000399743:K1112N;ENSP00000359029:K79N	ENSP00000278070:K1112N	K	+	3	2	PPRC1	103891591	0.004000	0.15560	0.982000	0.44146	0.796000	0.44982	0.019000	0.13444	1.576000	0.49790	0.563000	0.77884	AAG		0.592	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062	
GBF1	8729	hgsc.bcm.edu	37	10	104119133	104119133	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:104119133A>G	ENST00000369983.3	+	11	1378	c.1118A>G	c.(1117-1119)cAt>cGt	p.H373R	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	373					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.H373R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCCTCTGTCCATGACATGGAT	0.557																																					p.H374R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1121G	10						.						174.0	133.0	147.0					10																	104119133		2203	4300	6503	104109123	SO:0001583	missense	8729	exon11			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1118A>G	10.37:g.104119133A>G	ENSP00000359000:p.His373Arg	Somatic		Capture	SOLID	Phase_I	104109123	NM_001199378	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.073856	0.55646	.	.	ENSG00000107862	ENST00000369983	T	0.09911	2.93	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.13586	0.0329	M	0.64997	1.995	0.80722	D	1	P;P;P	0.48230	0.786;0.763;0.907	B;B;B	0.40009	0.316;0.25;0.276	T	0.13845	-1.0494	10	0.18276	T	0.48	-11.7542	15.8431	0.78864	1.0:0.0:0.0:0.0	.	373;373;373	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	R	373	ENSP00000359000:H373R	ENSP00000359000:H373R	H	+	2	0	GBF1	104109123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.957000	0.93082	2.136000	0.66102	0.533000	0.62120	CAT		0.557	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		
TMEM180	79847	hgsc.bcm.edu	37	10	104233392	104233392	+	Missense_Mutation	SNP	G	G	A	rs376006315		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:104233392G>A	ENST00000238936.4	+	8	1228	c.991G>A	c.(991-993)Gtc>Atc	p.V331I	TMEM180_ENST00000366277.2_Missense_Mutation_p.V60I	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	331						integral component of membrane (GO:0016021)		p.V331I(2)		breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCGCTGGGGCGTCTACGCGGT	0.637																																					p.V331I												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G991A	10						.	G	ILE/VAL	0,4406		0,0,2203	130.0	131.0	131.0		991	4.6	0.9	10		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM180	NM_024789.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	331/518	104233392	1,13005	2203	4300	6503	104223382	SO:0001583	missense	79847	exon8			AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.991G>A	10.37:g.104233392G>A	ENSP00000238936:p.Val331Ile	Somatic		Capture	SOLID	Phase_I	104223382	NM_024789	Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765972	0.69878	0.0	1.16E-4	ENSG00000138111	ENST00000366277;ENST00000447593;ENST00000238936;ENST00000369930	T;D;T	0.87256	-1.41;-2.23;-1.41	5.5	4.6	0.57074	Major facilitator superfamily domain, general substrate transporter (1);	0.052363	0.85682	N	0.000000	D	0.92234	0.7537	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.63488	0.79;0.915	D	0.91979	0.5593	10	0.42905	T	0.14	.	14.5779	0.68262	0.0705:0.0:0.9295:0.0	.	180;331	B4DWN6;Q14CX5	.;TM180_HUMAN	I	60;180;331;60	ENSP00000437572:V60I;ENSP00000238936:V331I;ENSP00000358946:V60I	ENSP00000238936:V331I	V	+	1	0	TMEM180	104223382	1.000000	0.71417	0.860000	0.33809	0.179000	0.23085	6.785000	0.75089	1.340000	0.45581	-0.369000	0.07265	GTC		0.637	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789	
SORCS3	22986	hgsc.bcm.edu	37	10	106907398	106907398	+	Silent	SNP	C	C	T	rs147429425	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:106907398C>T	ENST00000369701.3	+	9	1553	c.1326C>T	c.(1324-1326)gaC>gaT	p.D442D		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	442					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.D442D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGTACAGACGAGAACCAAG	0.473													c|||	3	0.000599042	0.0008	0.0	5008	,	,		21655	0.002		0.0	False		,,,				2504	0.0				p.D442D	NSCLC(116;1497 1690 7108 13108 14106)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1326T	10						.						190.0	154.0	166.0					10																	106907398		2203	4300	6503	106897388	SO:0001819	synonymous_variant	22986	exon9			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1326C>T	10.37:g.106907398C>T		Somatic		Capture	SOLID	Phase_I	106897388	NM_014978	Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	CCDS7558.1																																																																																				0.473	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
MXI1	4601	hgsc.bcm.edu	37	10	112039789	112039789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:112039789C>T	ENST00000239007.7	+	5	687	c.469C>T	c.(469-471)Cga>Tga	p.R157*	MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000369612.1_Nonsense_Mutation_p.R121*|MXI1_ENST00000332674.5_Nonsense_Mutation_p.R224*|MXI1_ENST00000393134.1_Nonsense_Mutation_p.R147*|MXI1_ENST00000361248.4_Nonsense_Mutation_p.R111*	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	157					cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)	p.R224*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGAACGAATACGAATGGACAG	0.443																																					p.R224X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C670T	10						.						121.0	111.0	115.0					10																	112039789		2203	4300	6503	112029779	SO:0001587	stop_gained	4601	exon5			BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.469C>T	10.37:g.112039789C>T	ENSP00000239007:p.Arg157*	Somatic		Capture	SOLID	Phase_I	112029779	NM_130439	B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Nonsense_Mutation	SNP	ENST00000239007.7	37	CCDS7564.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480205	0.84747	.	.	ENSG00000119950	ENST00000332674;ENST00000453116;ENST00000361248;ENST00000239007;ENST00000369619;ENST00000393134;ENST00000369614;ENST00000369613;ENST00000369612	.	.	.	5.6	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3439	14.5813	0.68292	0.0:0.9298:0.0:0.0702	.	.	.	.	X	224;214;111;157;147;147;121;121;121	.	ENSP00000239007:R157X	R	+	1	2	MXI1	112029779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.001000	0.70685	1.510000	0.48803	0.650000	0.86243	CGA		0.443	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050316.1	NM_130439	
CASP7	840	hgsc.bcm.edu	37	10	115485249	115485249	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:115485249G>A	ENST00000345633.4	+	6	889	c.505G>A	c.(505-507)Gat>Aat	p.D169N	CASP7_ENST00000452490.2_Missense_Mutation_p.D144N|CASP7_ENST00000369331.4_Intron|CASP7_ENST00000369321.2_Missense_Mutation_p.D202N|CASP7_ENST00000369318.3_Missense_Mutation_p.D169N|CASP7_ENST00000369315.1_Missense_Mutation_p.D169N	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	169					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.D202N(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		CTTTAGGGGGGATAGATGCAA	0.408																																					p.D169N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G505A	10						.						69.0	70.0	70.0					10																	115485249		2203	4300	6503	115475239	SO:0001583	missense	840	exon6			U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"""Caspases"""	1508	protein-coding gene	gene with protein product		601761	"""caspase 7, apoptosis-related cysteine protease"""			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.505G>A	10.37:g.115485249G>A	ENSP00000298701:p.Asp169Asn	Somatic		Capture	SOLID	Phase_I	115475239	NM_033339	B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	ENST00000345633.4	37	CCDS7581.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108165	0.94292	.	.	ENSG00000165806	ENST00000429617;ENST00000369321;ENST00000345633;ENST00000369318;ENST00000369315;ENST00000452490	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.36	5.36	0.76844	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.100836	0.64402	D	0.000001	T	0.70649	0.3248	M	0.64404	1.975	0.80722	D	1	D;B;D;D	0.76494	0.996;0.292;0.997;0.999	D;P;D;D	0.70716	0.932;0.447;0.953;0.97	T	0.69243	-0.5196	10	0.45353	T	0.12	.	19.4835	0.95020	0.0:0.0:1.0:0.0	.	144;177;202;169	B4DQU7;B4DWA2;P55210-3;P55210	.;.;.;CASP7_HUMAN	N	169;202;169;169;169;144	ENSP00000400094:D169N;ENSP00000358327:D202N;ENSP00000298701:D169N;ENSP00000358324:D169N;ENSP00000358321:D169N;ENSP00000398107:D144N	ENSP00000298701:D169N	D	+	1	0	CASP7	115475239	1.000000	0.71417	0.703000	0.30354	0.984000	0.73092	6.707000	0.74654	2.680000	0.91292	0.655000	0.94253	GAT		0.408	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338	
PDZD8	118987	hgsc.bcm.edu	37	10	119044154	119044154	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:119044154C>A	ENST00000334464.5	-	5	2329	c.2090G>T	c.(2089-2091)aGa>aTa	p.R697I	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	697					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.R697I(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACAGGATGCTCTGGTTCTTGT	0.443																																					p.R697I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2090T	10						.						106.0	101.0	103.0					10																	119044154		2203	4300	6503	119034144	SO:0001583	missense	118987	exon5			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2090G>T	10.37:g.119044154C>A	ENSP00000334642:p.Arg697Ile	Somatic		Capture	SOLID	Phase_I	119034144	NM_173791	Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686685	0.29962	.	.	ENSG00000165650	ENST00000334464	D	0.86097	-2.07	5.49	3.29	0.37713	.	0.523213	0.20597	N	0.089224	T	0.76709	0.4025	L	0.27053	0.805	0.30357	N	0.78425	B	0.32693	0.38	B	0.35607	0.206	T	0.76041	-0.3104	10	0.56958	D	0.05	-3.5082	10.0486	0.42201	0.0:0.7638:0.0:0.2361	.	697	Q8NEN9	PDZD8_HUMAN	I	697	ENSP00000334642:R697I	ENSP00000334642:R697I	R	-	2	0	PDZD8	119034144	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.289000	0.33307	1.324000	0.45282	0.313000	0.20887	AGA		0.443	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791	
FAM204A	63877	hgsc.bcm.edu	37	10	120095726	120095726	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:120095726A>G	ENST00000369183.4	-	3	461	c.202T>C	c.(202-204)Tgt>Cgt	p.C68R	FAM204A_ENST00000369172.4_Missense_Mutation_p.C68R|FAM204A_ENST00000469758.1_5'UTR	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	68				C -> F (in Ref. 1; BAB15514). {ECO:0000305}.				p.C68R(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						CCAGAAGGACACTCTTCATAG	0.408																																					p.C68R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T202C	10						.						161.0	148.0	152.0					10																	120095726		2203	4300	6503	120085716	SO:0001583	missense	63877	exon2			AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 84"""	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.202T>C	10.37:g.120095726A>G	ENSP00000358183:p.Cys68Arg	Somatic		Capture	SOLID	Phase_I	120085716	NM_001134672	D3DRC6|Q5T373|Q9H5V5	Missense_Mutation	SNP	ENST00000369183.4	37	CCDS7605.1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.919939	0.33908	.	.	ENSG00000165669	ENST00000369183;ENST00000369172;ENST00000369170	.	.	.	5.98	4.86	0.63082	.	0.364164	0.32134	N	0.006523	T	0.56746	0.2006	M	0.69248	2.105	0.80722	D	1	P	0.38078	0.617	B	0.40477	0.33	T	0.63042	-0.6725	9	0.87932	D	0	-9.1666	9.2838	0.37744	0.9184:0.0:0.0816:0.0	.	68	Q9H8W3	F204A_HUMAN	R	68	.	ENSP00000358168:C68R	C	-	1	0	FAM204A	120085716	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	3.739000	0.55075	2.289000	0.77006	0.482000	0.46254	TGT		0.408	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050596.2	NM_022063	
TIAL1	7073	hgsc.bcm.edu	37	10	121338316	121338316	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:121338316C>T	ENST00000436547.2	-	7	522	c.478G>A	c.(478-480)Ggt>Agt	p.G160S	TIAL1_ENST00000369092.4_Missense_Mutation_p.G37S|TIAL1_ENST00000463089.2_5'Flank|TIAL1_ENST00000369093.2_Missense_Mutation_p.G177S	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	160	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G177S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		AACCACTGACCGCCCATATGC	0.403																																					p.G177S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G529A	10						.						130.0	111.0	118.0					10																	121338316		2203	4300	6503	121328306	SO:0001583	missense	7073	exon7			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.478G>A	10.37:g.121338316C>T	ENSP00000394902:p.Gly160Ser	Somatic		Capture	SOLID	Phase_I	121328306	NM_001033925	A8K3T0|A8K4L9	Missense_Mutation	SNP	ENST00000436547.2	37	CCDS7613.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592975	0.96602	.	.	ENSG00000151923	ENST00000369093;ENST00000369092;ENST00000436547;ENST00000412524	T;D;D;T	0.81821	1.81;-1.54;-1.54;1.81	5.61	5.61	0.85477	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.90940	0.7152	M	0.83312	2.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.993;1.0	D;D;D;D	0.97110	0.999;1.0;0.924;0.999	D	0.91673	0.5352	10	0.87932	D	0	-15.6385	19.646	0.95777	0.0:1.0:0.0:0.0	.	37;37;177;160	B4DHS3;Q49AS9;A8K4L9;Q01085	.;.;.;TIAR_HUMAN	S	177;37;160;121	ENSP00000358089:G177S;ENSP00000358088:G37S;ENSP00000394902:G160S;ENSP00000403573:G121S	ENSP00000358088:G37S	G	-	1	0	TIAL1	121328306	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.672000	0.83956	2.645000	0.89757	0.591000	0.81541	GGT		0.403	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252	
TACC2	10579	hgsc.bcm.edu	37	10	123903109	123903109	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:123903109G>A	ENST00000369005.1	+	7	6062	c.5722G>A	c.(5722-5724)Gcg>Acg	p.A1908T	TACC2_ENST00000369000.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A1908T|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000453444.2_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1908					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.A1908T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCTGCCCATGCGGGTCTTCC	0.572											OREG0020589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A1908T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5722A	10						.						103.0	91.0	95.0					10																	123903109		2203	4300	6503	123893099	SO:0001583	missense	10579	exon7			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5722G>A	10.37:g.123903109G>A	ENSP00000358001:p.Ala1908Thr	Somatic	1530	Capture	SOLID	Phase_I	123893099	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584649	0.28268	.	.	ENSG00000138162	ENST00000369005;ENST00000334433;ENST00000340076	T;T	0.58210	0.35;0.35	4.34	3.43	0.39272	.	1.700760	0.03822	N	0.267591	T	0.37999	0.1024	N	0.14661	0.345	0.20926	N	0.999826	B	0.10296	0.003	B	0.04013	0.001	T	0.20240	-1.0281	10	0.28530	T	0.3	0.9005	8.4314	0.32759	0.1079:0.0:0.8921:0.0	.	1908	O95359	TACC2_HUMAN	T	1908;1908;1898	ENSP00000358001:A1908T;ENSP00000334280:A1908T	ENSP00000334280:A1908T	A	+	1	0	TACC2	123893099	0.014000	0.17966	0.001000	0.08648	0.029000	0.11900	1.607000	0.36836	1.171000	0.42768	0.561000	0.74099	GCG		0.572	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
C10orf120	399814	hgsc.bcm.edu	37	10	124457760	124457760	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:124457760T>C	ENST00000329446.4	-	3	528	c.497A>G	c.(496-498)aAg>aGg	p.K166R		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	166								p.K166R(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CTCTATGTGCTTACTGACGTT	0.488																																					p.K166R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A497G	10						.						147.0	139.0	142.0					10																	124457760		2203	4300	6503	124447750	SO:0001583	missense	399814	exon3				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.497A>G	10.37:g.124457760T>C	ENSP00000331012:p.Lys166Arg	Somatic		Capture	SOLID	Phase_I	124447750	NM_001010912	B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.471392	0.26423	.	.	ENSG00000183559	ENST00000329446	T	0.33216	1.42	4.71	2.36	0.29203	.	0.249652	0.28409	N	0.015447	T	0.15825	0.0381	N	0.20401	0.57	0.19945	N	0.999945	P	0.36959	0.575	B	0.36030	0.216	T	0.15435	-1.0437	10	0.19590	T	0.45	-21.2539	6.4163	0.21717	0.0:0.1961:0.0:0.8039	.	166	Q5SQS8	CJ120_HUMAN	R	166	ENSP00000331012:K166R	ENSP00000331012:K166R	K	-	2	0	C10orf120	124447750	0.313000	0.24554	0.172000	0.22920	0.011000	0.07611	0.318000	0.19504	0.387000	0.25024	0.491000	0.48974	AAG		0.488	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912	
EDRF1	26098	hgsc.bcm.edu	37	10	127414307	127414307	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:127414307C>T	ENST00000356792.4	+	6	924	c.692C>T	c.(691-693)tCg>tTg	p.S231L	C10orf137_ENST00000337623.3_Missense_Mutation_p.S231L	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S231L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGCAGGAATCGTCCAGTTCA	0.478																																					p.S231L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C692T	10						.						88.0	81.0	83.0					10																	127414307		2203	4300	6503	127404297	SO:0001583	missense	26098	exon6																														ENST00000356792.4:c.692C>T	10.37:g.127414307C>T	ENSP00000349244:p.Ser231Leu	Somatic		Capture	SOLID	Phase_I	127404297	NM_015608	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989030	0.35131	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	4.85	4.85	0.62838	.	1.004030	0.08010	N	0.990120	T	0.22589	0.0545	L	0.34521	1.04	0.09310	N	1	P;B;P	0.40250	0.709;0.157;0.501	B;B;B	0.24394	0.053;0.026;0.039	T	0.03473	-1.1033	9	0.27082	T	0.32	.	8.9751	0.35930	0.1393:0.5959:0.2647:0.0	.	231;231;231	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	L	231	.	ENSP00000336727:S231L	S	+	2	0	C10orf137	127404297	0.001000	0.12720	0.006000	0.13384	0.336000	0.28762	1.271000	0.33098	2.695000	0.91970	0.650000	0.86243	TCG		0.478	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		
TUBGCP2	10844	hgsc.bcm.edu	37	10	135098642	135098642	+	Silent	SNP	G	G	A	rs139647770	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:135098642G>A	ENST00000252936.3	-	12	2010	c.1971C>T	c.(1969-1971)agC>agT	p.S657S	TUBGCP2_ENST00000417178.2_Silent_p.S527S|TUBGCP2_ENST00000368563.2_Silent_p.S657S|TUBGCP2_ENST00000543663.1_Silent_p.S685S|TUBGCP2_ENST00000368562.1_Silent_p.S250S			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	657					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.S657S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGATCCAGACGCTGCAGAGCT	0.617													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16848	0.0		0.0	False		,,,				2504	0.0				p.S657S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1971T	10						.	G		1,4405	2.1+/-5.4	0,1,2202	99.0	74.0	82.0		1971	-4.9	0.0	10	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous	TUBGCP2	NM_006659.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		657/903	135098642	1,13005	2203	4300	6503	134948632	SO:0001819	synonymous_variant	10844	exon13			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1971C>T	10.37:g.135098642G>A		Somatic		Capture	SOLID	Phase_I	134948632	NM_006659	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	CCDS7676.1																																																																																				0.617	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1		
FBXO18	84893	hgsc.bcm.edu	37	10	5959451	5959451	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:5959451G>A	ENST00000362091.4	+	11	1972	c.1857G>A	c.(1855-1857)gcG>gcA	p.A619A	FBXO18_ENST00000379999.5_Silent_p.A670A|FBXO18_ENST00000397269.3_Silent_p.A106A	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	619					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.A670A(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAGAAGAGGCGCACCAGATGA	0.552																																					p.A670A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2010A	10						.						55.0	60.0	58.0					10																	5959451		2203	4300	6503	5999457	SO:0001819	synonymous_variant	84893	exon12			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1857G>A	10.37:g.5959451G>A		Somatic		Capture	SOLID	Phase_I	5999457	NM_032807	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	CCDS7072.1																																																																																				0.552	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	
NEBL	10529	hgsc.bcm.edu	37	10	21147173	21147173	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:21147173C>T	ENST00000377122.4	-	9	1295	c.899G>A	c.(898-900)aGc>aAc	p.S300N	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	300					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.S300N(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACTTACGCCGCTGAGCATTTT	0.443																																					p.S300N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G899A	10						.						120.0	121.0	121.0					10																	21147173		2203	4300	6503	21187179	SO:0001583	missense	10529	exon9			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.899G>A	10.37:g.21147173C>T	ENSP00000366326:p.Ser300Asn	Somatic		Capture	SOLID	Phase_I	21187179	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282642	0.80692	.	.	ENSG00000078114	ENST00000377122	T	0.40225	1.04	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	M	0.75615	2.305	0.80722	D	1	D	0.54772	0.968	P	0.56398	0.797	T	0.57814	-0.7746	10	0.33940	T	0.23	.	16.5975	0.84800	0.0:1.0:0.0:0.0	.	300	O76041	NEBL_HUMAN	N	300	ENSP00000366326:S300N	ENSP00000366326:S300N	S	-	2	0	NEBL	21187179	0.998000	0.40836	0.997000	0.53966	0.737000	0.42083	5.087000	0.64480	2.497000	0.84241	0.655000	0.94253	AGC		0.443	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
ARHGAP21	57584	hgsc.bcm.edu	37	10	24908491	24908491	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:24908491C>A	ENST00000396432.2	-	9	2819	c.2333G>T	c.(2332-2334)cGt>cTt	p.R778L	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R565L	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	777					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.R777L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GACCTCTCGACGTGCATCATT	0.512																																					p.R778L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2333T	10						.						100.0	101.0	100.0					10																	24908491		2203	4300	6503	24948497	SO:0001583	missense	57584	exon9			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2333G>T	10.37:g.24908491C>A	ENSP00000379709:p.Arg778Leu	Somatic		Capture	SOLID	Phase_I	24948497	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835749	0.71373	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.14	5.14	0.70334	.	0.283582	0.42172	D	0.000753	T	0.63189	0.2490	L	0.53249	1.67	0.58432	D	0.999996	D;D	0.57257	0.974;0.979	P;P	0.53722	0.733;0.716	T	0.66913	-0.5803	10	0.72032	D	0.01	.	18.9628	0.92682	0.0:1.0:0.0:0.0	.	768;777	F8W9U9;Q5T5U3	.;RHG21_HUMAN	L	778;565;768;778;613	ENSP00000379709:R778L;ENSP00000365604:R565L;ENSP00000365592:R768L;ENSP00000405018:R778L	ENSP00000365604:R565L	R	-	2	0	ARHGAP21	24948497	1.000000	0.71417	0.994000	0.49952	0.673000	0.39480	5.620000	0.67736	2.531000	0.85337	0.655000	0.94253	CGT		0.512	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
ARMC4	55130	hgsc.bcm.edu	37	10	28229731	28229731	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:28229731C>T	ENST00000305242.5	-	13	1839	c.1747G>A	c.(1747-1749)Gct>Act	p.A583T	ARMC4_ENST00000545014.1_Missense_Mutation_p.A108T|ARMC4_ENST00000537576.1_Missense_Mutation_p.A275T	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	583					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.A583T(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCTAGTAGAGCAACCTATAAT	0.448																																					p.A583T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1747A	10						.						65.0	64.0	65.0					10																	28229731		2203	4300	6503	28269737	SO:0001583	missense	55130	exon13			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1747G>A	10.37:g.28229731C>T	ENSP00000306410:p.Ala583Thr	Somatic		Capture	SOLID	Phase_I	28269737	NM_018076	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	8.870	0.948992	0.18356	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.48836	0.8;0.8;0.8	5.12	2.17	0.27698	Armadillo-like helical (1);Armadillo-type fold (1);	0.402824	0.30168	N	0.010260	T	0.41627	0.1167	M	0.65975	2.015	0.80722	D	1	B;B	0.23058	0.079;0.046	B;B	0.25987	0.065;0.045	T	0.14924	-1.0455	10	0.15499	T	0.54	-10.7375	9.0031	0.36094	0.2652:0.6651:0.0:0.0697	.	108;583	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	T	275;583;108	ENSP00000443208:A275T;ENSP00000306410:A583T;ENSP00000441076:A108T	ENSP00000306410:A583T	A	-	1	0	ARMC4	28269737	1.000000	0.71417	0.167000	0.22817	0.002000	0.02628	2.795000	0.47861	0.240000	0.21263	-0.857000	0.03018	GCT		0.448	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
ARMC4	55130	hgsc.bcm.edu	37	10	28233288	28233288	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:28233288C>T	ENST00000305242.5	-	12	1698	c.1606G>A	c.(1606-1608)Ggc>Agc	p.G536S	ARMC4_ENST00000545014.1_Missense_Mutation_p.G61S|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000537576.1_Missense_Mutation_p.G228S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	536					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTGGTAAGCCCCCAAGGTCA	0.383																																					p.G536S												.	.	0			c.G1606A	10						.						92.0	90.0	91.0					10																	28233288		2203	4300	6503	28273294	SO:0001583	missense	55130	exon12			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1606G>A	10.37:g.28233288C>T	ENSP00000306410:p.Gly536Ser	Somatic		Capture	SOLID	Phase_I	28273294	NM_018076	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128610	0.94473	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.53206	0.63;0.63;0.63	5.34	5.34	0.76211	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	M	0.90082	3.085	0.80722	D	1	D;D	0.76494	0.964;0.999	P;D	0.72982	0.81;0.979	T	0.80374	-0.1409	10	0.66056	D	0.02	-21.1876	19.3943	0.94601	0.0:1.0:0.0:0.0	.	61;536	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	S	228;536;61	ENSP00000443208:G228S;ENSP00000306410:G536S;ENSP00000441076:G61S	ENSP00000306410:G536S	G	-	1	0	ARMC4	28273294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.671000	0.90904	0.585000	0.79938	GGC		0.383	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
ARMC4	55130	hgsc.bcm.edu	37	10	28233310	28233310	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:28233310T>C	ENST00000305242.5	-	12	1676	c.1584A>G	c.(1582-1584)agA>agG	p.R528R	ARMC4_ENST00000545014.1_Silent_p.R53R|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000537576.1_Silent_p.R220R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	528					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R528R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAATATTCTGTCTGATTTGAG	0.383																																					p.R528R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1584G	10						.						84.0	84.0	84.0					10																	28233310		2203	4300	6503	28273316	SO:0001819	synonymous_variant	55130	exon12			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1584A>G	10.37:g.28233310T>C		Somatic		Capture	SOLID	Phase_I	28273316	NM_018076	A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	CCDS7157.1																																																																																				0.383	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
ZEB1	6935	hgsc.bcm.edu	37	10	31803616	31803616	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:31803616A>G	ENST00000320985.10	+	6	880	c.770A>G	c.(769-771)gAg>gGg	p.E257G	ZEB1_ENST00000542815.3_Missense_Mutation_p.E190G|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.E258G|ZEB1_ENST00000446923.2_Missense_Mutation_p.E241G|ZEB1_ENST00000560721.2_Missense_Mutation_p.E237G			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	257					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E257G(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CACCTAAAAGAGCACTTAAGA	0.323																																					p.E237G	Ovarian(40;423 959 14296 36701 49589)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A710G	10						.						94.0	92.0	92.0					10																	31803616		2203	4300	6503	31843622	SO:0001583	missense	6935	exon5			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.770A>G	10.37:g.31803616A>G	ENSP00000319248:p.Glu257Gly	Somatic		Capture	SOLID	Phase_I	31843622	NM_001174093	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243265	0.79912	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000424869;ENST00000543514;ENST00000446923	T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.222920	0.30528	N	0.009421	T	0.20373	0.0490	L	0.35341	1.055	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;1.0;0.999;0.999	T	0.00847	-1.1542	10	0.72032	D	0.01	-21.8333	15.7585	0.78058	1.0:0.0:0.0:0.0	.	190;257;241;257;257;237;258;257	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	G	39;257;258;257;190;257;237;116;258;148;241	ENSP00000444282:E39G;ENSP00000354487:E258G;ENSP00000444891:E190G;ENSP00000319248:E257G;ENSP00000415961:E258G;ENSP00000391612:E241G	ENSP00000319248:E257G	E	+	2	0	ZEB1	31843622	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	9.339000	0.96797	2.111000	0.64477	0.533000	0.62120	GAG		0.323	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	
ZEB1	6935	hgsc.bcm.edu	37	10	31815822	31815822	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:31815822G>T	ENST00000320985.10	+	9	3115	c.3005G>T	c.(3004-3006)gGg>gTg	p.G1002V	ZEB1_ENST00000542815.3_Missense_Mutation_p.G935V|ZEB1_ENST00000361642.5_Missense_Mutation_p.G1003V|ZEB1_ENST00000446923.2_Missense_Mutation_p.G986V|ZEB1_ENST00000560721.2_Missense_Mutation_p.G982V			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1002	Glu-rich (acidic).				cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G1002V(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GAAGAGGCAGGGCCTGAAATC	0.532																																					p.G982V	Ovarian(40;423 959 14296 36701 49589)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2945T	10						.						90.0	78.0	82.0					10																	31815822		2203	4300	6503	31855828	SO:0001583	missense	6935	exon8			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.3005G>T	10.37:g.31815822G>T	ENSP00000319248:p.Gly1002Val	Somatic		Capture	SOLID	Phase_I	31855828	NM_001174093	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	9.328	1.059894	0.19987	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.15017	2.76;2.46;2.51;2.46;2.51	4.89	3.97	0.46021	.	0.471231	0.19497	N	0.112826	T	0.31167	0.0788	M	0.65498	2.005	0.58432	D	0.99999	P;P;B;P;P	0.48589	0.912;0.78;0.444;0.78;0.666	P;B;B;B;B	0.54140	0.743;0.335;0.206;0.335;0.212	T	0.03060	-1.1077	10	0.23302	T	0.38	-11.9325	14.3067	0.66389	0.0:0.4235:0.5765:0.0	.	935;986;982;1003;1002	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	V	784;1002;1003;997;935;1002;982;893;986	ENSP00000444282:G784V;ENSP00000354487:G1003V;ENSP00000444891:G935V;ENSP00000319248:G1002V;ENSP00000391612:G986V	ENSP00000319248:G1002V	G	+	2	0	ZEB1	31855828	0.997000	0.39634	0.248000	0.24265	0.057000	0.15508	2.556000	0.45862	1.050000	0.40346	-0.172000	0.13284	GGG		0.532	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	
ARHGAP12	94134	hgsc.bcm.edu	37	10	32101676	32101676	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:32101676C>T	ENST00000344936.2	-	15	2144	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R632H|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.R607H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R585H|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R585H	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	637					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R637H(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CAAAGTGGGGCGTCGTGTAAG	0.333																																					p.R637H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1910A	10						.						122.0	126.0	125.0					10																	32101676		2202	4300	6502	32141682	SO:0001583	missense	94134	exon15			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1910G>A	10.37:g.32101676C>T	ENSP00000345808:p.Arg637His	Somatic		Capture	SOLID	Phase_I	32141682	NM_018287	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456367	0.96223	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.11604	2.82;2.77;2.76;2.77;2.82	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	M	0.84433	2.695	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.99;0.999;0.999;0.999;0.999;0.999	T	0.35847	-0.9772	10	0.87932	D	0	.	19.9351	0.97137	0.0:1.0:0.0:0.0	.	590;607;607;632;637;585	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	H	585;607;637;632;585	ENSP00000310984:R585H;ENSP00000364399:R607H;ENSP00000345808:R637H;ENSP00000379448:R632H;ENSP00000364394:R585H	ENSP00000310984:R585H	R	-	2	0	ARHGAP12	32141682	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.709000	0.84645	2.703000	0.92315	0.655000	0.94253	CGC		0.333	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1		
ARHGAP12	94134	hgsc.bcm.edu	37	10	32132468	32132468	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:32132468C>T	ENST00000344936.2	-	7	1451	c.1217G>A	c.(1216-1218)aGc>aAc	p.S406N	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.S406N|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.S406N|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.S359N|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.S359N	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	406					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S406N(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CCTGTCCAGGCTCCTACTTTT	0.353																																					p.S406N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1217A	10						.						94.0	91.0	92.0					10																	32132468		2203	4300	6503	32172474	SO:0001583	missense	94134	exon7			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1217G>A	10.37:g.32132468C>T	ENSP00000345808:p.Ser406Asn	Somatic		Capture	SOLID	Phase_I	32172474	NM_018287	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650610	0.87958	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.42131	0.98;3.01;0.98;0.98;0.98	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.997;0.999;0.997;0.997;0.999	T	0.67914	-0.5547	10	0.72032	D	0.01	.	18.9171	0.92510	0.0:1.0:0.0:0.0	.	359;406;406;406;406;359	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	N	359;406;406;406;359	ENSP00000310984:S359N;ENSP00000364399:S406N;ENSP00000345808:S406N;ENSP00000379448:S406N;ENSP00000364394:S359N	ENSP00000310984:S359N	S	-	2	0	ARHGAP12	32172474	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.510000	0.73729	2.461000	0.83175	0.563000	0.77884	AGC		0.353	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1		
PARD3	56288	hgsc.bcm.edu	37	10	34400354	34400354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:34400354C>A	ENST00000374789.3	-	25	4139	c.3814G>T	c.(3814-3816)Gga>Tga	p.G1272*	PARD3_ENST00000350537.4_Nonsense_Mutation_p.G1226*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.G1269*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.G1212*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.G1182*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.G1256*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.G1235*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.G1160*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1272					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G1272*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AAGCCATGTCCTCCCAGGTAG	0.587																																					p.G1235X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3703T	10						.						72.0	69.0	70.0					10																	34400354		2203	4300	6503	34440360	SO:0001587	stop_gained	56288	exon24			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3814G>T	10.37:g.34400354C>A	ENSP00000363921:p.Gly1272*	Somatic		Capture	SOLID	Phase_I	34440360	NM_001184787	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Nonsense_Mutation	SNP	ENST00000374789.3	37	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	44	11.130185	0.99520	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	.	.	.	6.17	6.17	0.99709	.	0.099071	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	1256;1182;1272;1269;1235;1160;1226;1212	.	ENSP00000340591:G1235X	G	-	1	0	PARD3	34440360	0.959000	0.32827	0.989000	0.46669	0.993000	0.82548	4.371000	0.59523	2.941000	0.99782	0.655000	0.94253	GGA		0.587	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619	
ZNF25	219749	hgsc.bcm.edu	37	10	38242032	38242032	+	Missense_Mutation	SNP	C	C	T	rs368214770		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:38242032C>T	ENST00000302609.7	-	6	606	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A132T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				ACTATGAGGGCAGACTTCTGG	0.403																																					p.A132T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G394A	10						.						144.0	144.0	144.0					10																	38242032		2203	4300	6503	38282038	SO:0001583	missense	219749	exon6			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.394G>A	10.37:g.38242032C>T	ENSP00000302222:p.Ala132Thr	Somatic		Capture	SOLID	Phase_I	38282038	NM_145011	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	C	9.276	1.047001	0.19748	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.15139	2.45	4.88	-6.07	0.02158	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.562580	0.03831	N	0.269102	T	0.06096	0.0158	N	0.05441	-0.05	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.26503	-1.0101	10	0.19590	T	0.45	4.1622	0.7696	0.01021	0.3221:0.267:0.1017:0.3092	.	132	P17030	ZNF25_HUMAN	T	132;96	ENSP00000302222:A132T	ENSP00000302222:A132T	A	-	1	0	ZNF25	38282038	0.000000	0.05858	0.044000	0.18714	0.988000	0.76386	-2.074000	0.01375	-0.912000	0.03837	0.650000	0.86243	GCC		0.403	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966	
ERCC6	2074	hgsc.bcm.edu	37	10	50666893	50666893	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:50666893C>T	ENST00000355832.5	-	21	4528	c.4450G>A	c.(4450-4452)Gga>Aga	p.G1484R	ERCC6_ENST00000542458.1_Missense_Mutation_p.G854R|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1484					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.G1484R(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCCAAATTCCTTCACCACCA	0.373								Direct reversal of damage;Nucleotide excision repair (NER)																													p.G1484R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4450A	10						.						125.0	127.0	127.0					10																	50666893		2203	4300	6503	50336899	SO:0001583	missense	2074	exon21			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4450G>A	10.37:g.50666893C>T	ENSP00000348089:p.Gly1484Arg	Somatic		Capture	SOLID	Phase_I	50336899	NM_000124	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946770	0.92593	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.85955	-2.05;-1.71	5.48	5.48	0.80851	.	.	.	.	.	D	0.92433	0.7598	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92113	0.5697	9	0.54805	T	0.06	-26.1428	19.717	0.96124	0.0:1.0:0.0:0.0	.	1484;861	Q03468;Q59FF6	ERCC6_HUMAN;.	R	1484;861;854	ENSP00000348089:G1484R;ENSP00000445134:G854R	ENSP00000348089:G1484R	G	-	1	0	ERCC6	50336899	1.000000	0.71417	0.958000	0.39756	0.988000	0.76386	7.252000	0.78309	2.734000	0.93682	0.563000	0.77884	GGA		0.373	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
PCDH15	65217	hgsc.bcm.edu	37	10	55582615	55582615	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:55582615G>T	ENST00000320301.6	-	33	5265	c.4871C>A	c.(4870-4872)cCa>cAa	p.P1624Q	PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1601Q|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1555Q|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1621Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1584Q|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1626Q	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1624					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.P1631Q(1)|p.P1624Q(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTAAGCAATGGATTGCTGCT	0.418										HNSCC(58;0.16)																											p.P1584Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4751A	10						.						198.0	195.0	196.0					10																	55582615		2203	4300	6503	55252621	SO:0001583	missense	65217	exon31			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4871C>A	10.37:g.55582615G>T	ENSP00000322604:p.Pro1624Gln	Somatic		Capture	SOLID	Phase_I	55252621	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820337	0.32145	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.56776	0.46;0.44;0.48;0.45;0.45;0.45	5.1	0.822	0.18806	.	.	.	.	.	T	0.47783	0.1464	L	0.55481	1.735	0.09310	N	1	P;B;B;B;B;B;B;B	0.36909	0.573;0.007;0.007;0.007;0.013;0.007;0.276;0.007	B;B;B;B;B;B;B;B	0.40864	0.342;0.007;0.007;0.007;0.011;0.007;0.192;0.007	T	0.37267	-0.9713	9	0.44086	T	0.13	.	7.3293	0.26573	0.1495:0.257:0.5935:0.0	.	1601;1624;1626;1631;1555;1584;1621;1624	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	Q	1584;1626;1601;1624;1621;1631;1555	ENSP00000378820:P1584Q;ENSP00000354950:P1626Q;ENSP00000378821:P1601Q;ENSP00000322604:P1624Q;ENSP00000378818:P1621Q;ENSP00000412628:P1555Q	ENSP00000322604:P1624Q	P	-	2	0	PCDH15	55252621	0.200000	0.23398	0.000000	0.03702	0.202000	0.24057	2.428000	0.44749	0.155000	0.19261	0.655000	0.94253	CCA		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
ANK3	288	hgsc.bcm.edu	37	10	61830950	61830950	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:61830950C>T	ENST00000280772.2	-	37	9880	c.9689G>A	c.(9688-9690)cGt>cAt	p.R3230H	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3230					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R3230H(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGCATTTCACGCTCAACTGC	0.502																																					p.R3230H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9689A	10						.						183.0	172.0	176.0					10																	61830950		2203	4300	6503	61500956	SO:0001583	missense	288	exon37			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9689G>A	10.37:g.61830950C>T	ENSP00000280772:p.Arg3230His	Somatic		Capture	SOLID	Phase_I	61500956	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.628775	0.00813	.	.	ENSG00000151150	ENST00000280772	T	0.62498	0.02	5.24	-6.31	0.02001	.	2.267340	0.02229	N	0.064778	T	0.36524	0.0970	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21827	-1.0234	10	0.45353	T	0.12	.	4.5496	0.12105	0.1828:0.1117:0.0929:0.6127	.	3230	Q12955	ANK3_HUMAN	H	3230	ENSP00000280772:R3230H	ENSP00000280772:R3230H	R	-	2	0	ANK3	61500956	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.388000	0.01059	-0.760000	0.04677	0.561000	0.74099	CGT		0.502	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
ANK3	288	hgsc.bcm.edu	37	10	61959950	61959950	+	Silent	SNP	G	G	A	rs535590655		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:61959950G>A	ENST00000280772.2	-	13	1619	c.1428C>T	c.(1426-1428)tcC>tcT	p.S476S	ANK3_ENST00000503366.1_Silent_p.S459S|ANK3_ENST00000373827.2_Silent_p.S470S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	476					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S476S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAGCTTGGCCGGAGCGAGCTG	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15992	0.0		0.0	False		,,,				2504	0.0				p.S476S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1428T	10						.						80.0	69.0	73.0					10																	61959950		2203	4300	6503	61629956	SO:0001819	synonymous_variant	288	exon13			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1428C>T	10.37:g.61959950G>A		Somatic		Capture	SOLID	Phase_I	61629956	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																				0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
SIRT1	23411	hgsc.bcm.edu	37	10	69669124	69669124	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:69669124T>C	ENST00000212015.6	+	7	1335	c.1282T>C	c.(1282-1284)Tat>Cat	p.Y428H	SIRT1_ENST00000403579.1_Missense_Mutation_p.Y125H|SIRT1_ENST00000432464.1_Missense_Mutation_p.Y133H|SIRT1_ENST00000406900.1_Missense_Mutation_p.Y125H	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	428	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Y428H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AGCCATGAAGTATGACAAAGA	0.408																																					p.Y133H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T397C	10						.						112.0	103.0	106.0					10																	69669124		2203	4300	6503	69339130	SO:0001583	missense	23411	exon6			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1282T>C	10.37:g.69669124T>C	ENSP00000212015:p.Tyr428His	Somatic		Capture	SOLID	Phase_I	69339130	NM_001142498	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.382937	0.61845	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.53	5.53	0.82687	.	0.128975	0.53938	D	0.000048	T	0.11665	0.0284	N	0.02916	-0.46	0.40048	D	0.975736	B;B	0.29909	0.034;0.261	B;B	0.39379	0.089;0.298	T	0.39143	-0.9628	10	0.41790	T	0.15	-15.7833	15.3424	0.74309	0.0:0.0:0.0:1.0	.	125;428	B0QZ35;Q96EB6	.;SIRT1_HUMAN	H	428;133;125;125	ENSP00000212015:Y428H;ENSP00000409208:Y133H;ENSP00000384508:Y125H;ENSP00000384063:Y125H	ENSP00000212015:Y428H	Y	+	1	0	SIRT1	69339130	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.591000	0.67536	2.092000	0.63282	0.460000	0.39030	TAT		0.408	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1		
SLC25A16	8034	hgsc.bcm.edu	37	10	70248347	70248347	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:70248347C>T	ENST00000609923.1	-	7	748	c.650G>A	c.(649-651)gGg>gAg	p.G217E	SLC25A16_ENST00000539557.1_Missense_Mutation_p.G119E|SLC25A16_ENST00000265870.3_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	217					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)	p.G217E(1)		endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						ATGGGAAAGCCCAACACTCTT	0.368																																					p.G217E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G650A	10						.						77.0	72.0	74.0					10																	70248347		2203	4300	6503	69918353	SO:0001583	missense	8034	exon7			M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.650G>A	10.37:g.70248347C>T	ENSP00000476815:p.Gly217Glu	Somatic		Capture	SOLID	Phase_I	69918353	NM_152707	Q8N2U1	Missense_Mutation	SNP	ENST00000609923.1	37	CCDS7280.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913048	0.92178	.	.	ENSG00000122912	ENST00000265870;ENST00000539557	T;T	0.78003	-1.14;-1.14	5.99	5.99	0.97316	Mitochondrial carrier domain (2);	0.103372	0.64402	D	0.000002	T	0.72382	0.3453	N	0.19112	0.55	0.80722	D	1	P	0.43788	0.817	P	0.45538	0.484	T	0.69807	-0.5045	10	0.30854	T	0.27	-24.5678	20.5371	0.99232	0.0:1.0:0.0:0.0	.	217	P16260	GDC_HUMAN	E	217;119	ENSP00000265870:G217E;ENSP00000443914:G119E	ENSP00000265870:G217E	G	-	2	0	SLC25A16	69918353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.783000	0.85696	2.857000	0.98124	0.650000	0.86243	GGG		0.368	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2		
TET1	80312	hgsc.bcm.edu	37	10	70450810	70450810	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:70450810C>T	ENST00000373644.4	+	12	5859	c.5650C>T	c.(5650-5652)Cct>Tct	p.P1884S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1884					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.P1884S(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTGTACGATGCCTTCGGGAAG	0.577																																					p.P1884S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5650T	10						.						77.0	68.0	71.0					10																	70450810		2203	4300	6503	70120816	SO:0001583	missense	80312	exon12			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5650C>T	10.37:g.70450810C>T	ENSP00000362748:p.Pro1884Ser	Somatic		Capture	SOLID	Phase_I	70120816	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	4.730	0.135765	0.09032	.	.	ENSG00000138336	ENST00000373644	T	0.08008	3.14	5.55	3.56	0.40772	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.913082	0.09134	N	0.843963	T	0.14960	0.0361	M	0.71036	2.16	0.19775	N	0.999959	B	0.15473	0.013	B	0.20184	0.028	T	0.25363	-1.0134	10	0.44086	T	0.13	.	14.2502	0.66013	0.0:0.8136:0.117:0.0694	.	1884	Q8NFU7	TET1_HUMAN	S	1884	ENSP00000362748:P1884S	ENSP00000362748:P1884S	P	+	1	0	TET1	70120816	1.000000	0.71417	0.819000	0.32651	0.001000	0.01503	1.557000	0.36299	0.724000	0.32296	-0.797000	0.03246	CCT		0.577	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
CCAR1	55749	hgsc.bcm.edu	37	10	70506974	70506974	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:70506974A>G	ENST00000265872.6	+	7	694	c.575A>G	c.(574-576)tAt>tGt	p.Y192C	CCAR1_ENST00000535016.1_Missense_Mutation_p.Y177C|CCAR1_ENST00000543719.1_Missense_Mutation_p.Y177C	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	192					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.Y192C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GAAGCTACTTATAATCCTAAT	0.313																																					p.Y192C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A575G	10						.						92.0	97.0	96.0					10																	70506974		2203	4300	6503	70176980	SO:0001583	missense	55749	exon7			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.575A>G	10.37:g.70506974A>G	ENSP00000265872:p.Tyr192Cys	Somatic		Capture	SOLID	Phase_I	70176980	NM_018237	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908114	0.52333	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225	T;T;T;T;T	0.35973	1.55;1.28;1.28;1.33;1.57	5.51	4.38	0.52667	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.39147	1.195	0.80722	D	1	B;B;B	0.17852	0.001;0.024;0.015	B;B;B	0.20767	0.004;0.031;0.018	T	0.07481	-1.0770	10	0.54805	T	0.06	-12.943	11.4318	0.50045	0.9294:0.0:0.0706:0.0	.	177;192;166	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	C	192;177;177;177;166	ENSP00000265872:Y192C;ENSP00000441820:Y177C;ENSP00000445254:Y177C;ENSP00000439252:Y177C;ENSP00000438610:Y166C	ENSP00000265872:Y192C	Y	+	2	0	CCAR1	70176980	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	9.203000	0.95033	1.044000	0.40200	0.528000	0.53228	TAT		0.313	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237	
HKDC1	80201	hgsc.bcm.edu	37	10	71020999	71020999	+	Missense_Mutation	SNP	G	G	A	rs200095420		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:71020999G>A	ENST00000354624.5	+	16	2454	c.2321G>A	c.(2320-2322)cGt>cAt	p.R774H	HKDC1_ENST00000395086.2_Missense_Mutation_p.R774H	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	774	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.R774H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ATTTCAGAGCGTCTCCGGACC	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18398	0.0		0.0	False		,,,				2504	0.0				p.R774H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2321A	10						.						80.0	72.0	74.0					10																	71020999		2203	4300	6503	70691005	SO:0001583	missense	80201	exon16				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2321G>A	10.37:g.71020999G>A	ENSP00000346643:p.Arg774His	Somatic		Capture	SOLID	Phase_I	70691005	NM_025130	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.54	3.845971	0.71603	.	.	ENSG00000156510	ENST00000354624;ENST00000395086	D;D	0.96365	-3.99;-3.99	4.66	4.66	0.58398	Hexokinase, C-terminal (1);	0.466114	0.21364	N	0.075759	D	0.96812	0.8959	M	0.78916	2.43	0.33280	D	0.562191	D	0.60575	0.988	P	0.52598	0.703	D	0.99605	1.0979	10	0.54805	T	0.06	-2.5595	13.705	0.62633	0.0:0.2024:0.7976:0.0	.	774	Q2TB90	HKDC1_HUMAN	H	774	ENSP00000346643:R774H;ENSP00000378521:R774H	ENSP00000346643:R774H	R	+	2	0	HKDC1	70691005	0.682000	0.27624	1.000000	0.80357	0.996000	0.88848	2.041000	0.41213	2.407000	0.81776	0.491000	0.48974	CGT		0.542	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130	
NODAL	4838	hgsc.bcm.edu	37	10	72195550	72195550	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:72195550C>T	ENST00000287139.3	-	2	382	c.383G>A	c.(382-384)tGc>tAc	p.C128Y	AC022532.1_ENST00000420338.2_3'UTR	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	128					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)	p.C128Y(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CCGCTCTAAGCAGCTGTCTGA	0.557																																					p.C128Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	10						.						75.0	65.0	69.0					10																	72195550		2203	4300	6503	71865556	SO:0001583	missense	4838	exon2			BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.383G>A	10.37:g.72195550C>T	ENSP00000287139:p.Cys128Tyr	Somatic		Capture	SOLID	Phase_I	71865556	NM_018055	Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	CCDS7304.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894928	0.33442	.	.	ENSG00000156574	ENST00000287139;ENST00000414871	T;T	0.64438	-0.1;-0.1	5.46	5.46	0.80206	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	M	0.71581	2.175	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.68992	-0.5263	10	0.02654	T	1	.	18.2528	0.90009	0.0:1.0:0.0:0.0	.	128	Q96S42	NODAL_HUMAN	Y	128;73	ENSP00000287139:C128Y;ENSP00000394468:C73Y	ENSP00000287139:C128Y	C	-	2	0	NODAL	71865556	1.000000	0.71417	0.965000	0.40720	0.023000	0.10783	3.379000	0.52440	2.840000	0.97914	0.655000	0.94253	TGC		0.557	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055	
SLC29A3	55315	hgsc.bcm.edu	37	10	73121836	73121836	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:73121836C>A	ENST00000373189.5	+	6	951	c.899C>A	c.(898-900)cCc>cAc	p.P300H	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	300					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)	p.P300H(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTCTCCGCCCCATCCTGAAG	0.587																																					p.P300H	Esophageal Squamous(200;1319 2142 18949 31248 39672)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C899A	10						.						101.0	105.0	104.0					10																	73121836		2203	4300	6503	72791842	SO:0001583	missense	55315	exon6			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.899C>A	10.37:g.73121836C>A	ENSP00000362285:p.Pro300His	Somatic		Capture	SOLID	Phase_I	72791842	NM_018344	B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846599	0.71603	.	.	ENSG00000198246	ENST00000373189	T	0.62788	-0.0	5.8	4.72	0.59763	.	0.353955	0.29178	N	0.012904	T	0.66107	0.2756	M	0.72894	2.215	0.53688	D	0.999971	B	0.26672	0.156	B	0.36030	0.216	T	0.69128	-0.5227	9	0.33940	T	0.23	-50.545	15.7699	0.78162	0.0:0.9242:0.0:0.0758	.	300	Q9BZD2	S29A3_HUMAN	H	300	ENSP00000362285:P300H	ENSP00000362285:P300H	P	+	2	0	SLC29A3	72791842	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.207000	0.51106	2.755000	0.94549	0.655000	0.94253	CCC		0.587	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344	
MCU	90550	hgsc.bcm.edu	37	10	74631304	74631304	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:74631304T>C	ENST00000373053.3	+	6	848	c.827T>C	c.(826-828)aTg>aCg	p.M276T	MCU_ENST00000605416.1_3'UTR|MCU_ENST00000357157.6_Missense_Mutation_p.M255T|MCU_ENST00000536019.1_Missense_Mutation_p.M227T	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	276					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)	p.M276T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						GGAAGTGCCATGGCAATGTAT	0.398																																					p.M276T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T827C	10						.						121.0	111.0	115.0					10																	74631304		2203	4300	6503	74301310	SO:0001583	missense	90550	exon6			BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.827T>C	10.37:g.74631304T>C	ENSP00000362144:p.Met276Thr	Somatic		Capture	SOLID	Phase_I	74301310	NM_138357	B2RDF3|B3KXV7|Q96FL3	Missense_Mutation	SNP	ENST00000373053.3	37	CCDS7317.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.669978	0.88348	.	.	ENSG00000156026	ENST00000373053;ENST00000357157;ENST00000536019	T;T;T	0.34472	1.36;1.36;1.36	5.92	5.92	0.95590	Coiled-coil domain containing protein 109, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	M	0.83603	2.65	0.80722	D	1	D;D;D	0.60160	0.984;0.968;0.987	P;P;D	0.64506	0.879;0.796;0.926	T	0.68603	-0.5365	10	0.87932	D	0	-16.8678	16.3678	0.83341	0.0:0.0:0.0:1.0	.	255;227;276	Q8NE86-2;Q8NE86-3;Q8NE86	.;.;MCU_HUMAN	T	276;255;227	ENSP00000362144:M276T;ENSP00000349680:M255T;ENSP00000440913:M227T	ENSP00000349680:M255T	M	+	2	0	MCU	74301310	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.254000	0.74563	0.528000	0.53228	ATG		0.398	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357	
TSPAN14	81619	hgsc.bcm.edu	37	10	82269185	82269185	+	Silent	SNP	C	C	T	rs116583360	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:82269185C>T	ENST00000429989.3	+	5	631	c.408C>T	c.(406-408)gaC>gaT	p.D136D	TSPAN14_ENST00000372164.3_Silent_p.D119D|TSPAN14_ENST00000341863.6_Intron|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372156.1_Silent_p.D136D|TSPAN14_ENST00000372158.1_Silent_p.D136D	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	136					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.D136D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CCTACCGGGACGATATCGATC	0.602													C|||	23	0.00459265	0.0136	0.0043	5008	,	,		19874	0.0		0.001	False		,,,				2504	0.001				p.D136D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408T	10						.	C	,	52,4354	51.6+/-87.1	0,52,2151	105.0	89.0	94.0		,408	-2.8	1.0	10	dbSNP_132	94	5,8595	4.3+/-15.6	0,5,4295	no	intron,coding-synonymous	TSPAN14	NM_001128309.1,NM_030927.2	,	0,57,6446	TT,TC,CC		0.0581,1.1802,0.4383	,	,136/271	82269185	57,12949	2203	4300	6503	82259165	SO:0001819	synonymous_variant	81619	exon5			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.408C>T	10.37:g.82269185C>T		Somatic		Capture	SOLID	Phase_I	82259165	NM_030927	A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Silent	SNP	ENST00000429989.3	37	CCDS7369.1																																																																																				0.602	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927	
BMPR1A	657	hgsc.bcm.edu	37	10	88683357	88683357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:88683357C>T	ENST00000372037.3	+	13	2017	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	494	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.R494*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						TCAGTGTCTACGAGCAGTTTT	0.438			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												p.R494X	Ovarian(190;603 2086 22044 30335 47971)	yes	Rec		Juvenile polyposis	10	10q22.3	657	"""bone morphogenetic protein receptor, type IA"""		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1480T	10						.						108.0	101.0	104.0					10																	88683357		2203	4300	6503	88673337	SO:0001587	stop_gained	657	exon13	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.1480C>T	10.37:g.88683357C>T	ENSP00000361107:p.Arg494*	Somatic		Capture	SOLID	Phase_I	88673337	NM_004329	A8K6U9|Q8NEN8	Nonsense_Mutation	SNP	ENST00000372037.3	37	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	C	41	8.698901	0.98920	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	.	.	.	5.92	3.9	0.45041	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1831	0.37154	0.2402:0.6785:0.0:0.0813	.	.	.	.	X	494	.	ENSP00000224764:R494X	R	+	1	2	BMPR1A	88673337	0.998000	0.40836	0.876000	0.34364	0.889000	0.51656	3.976000	0.56867	1.513000	0.48852	0.655000	0.94253	CGA		0.438	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329	
ACTA2	59	hgsc.bcm.edu	37	10	90699435	90699435	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:90699435C>A	ENST00000458208.1	-	7	1111	c.637G>T	c.(637-639)Gac>Tac	p.D213Y	ACTA2-AS1_ENST00000596007.1_RNA|ACTA2-AS1_ENST00000437930.4_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.D213Y|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'Flank	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	213					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TCCTTGATGTCCCGGACAATC	0.493																																					p.D213Y												.	.	0			c.G637T	10						.						113.0	87.0	96.0					10																	90699435		2203	4300	6503	90689415	SO:0001583	missense	59	exon7			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.637G>T	10.37:g.90699435C>A	ENSP00000402373:p.Asp213Tyr	Somatic		Capture	SOLID	Phase_I	90689415	NM_001141945	B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988569	0.74589	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.94828	-3.53;-3.53	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.98337	0.9448	H	0.95950	3.745	0.80722	D	1	D	0.64830	0.994	D	0.81914	0.995	D	0.98883	1.0770	10	0.87932	D	0	.	19.2286	0.93827	0.0:1.0:0.0:0.0	.	213	P62736	ACTA_HUMAN	Y	213;213;168	ENSP00000224784:D213Y;ENSP00000402373:D213Y	ENSP00000224784:D213Y	D	-	1	0	ACTA2	90689415	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.890000	0.99128	0.655000	0.94253	GAC		0.493	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613	
TNKS2	80351	hgsc.bcm.edu	37	10	93622727	93622727	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:93622727A>G	ENST00000371627.4	+	27	3851	c.3472A>G	c.(3472-3474)Atg>Gtg	p.M1158V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1158	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.M1158V(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTACCAGATTATGAGGCCTGA	0.338																																					p.M1158V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3472G	10						.						74.0	73.0	73.0					10																	93622727		2203	4299	6502	93612707	SO:0001583	missense	80351	exon27			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.3472A>G	10.37:g.93622727A>G	ENSP00000360689:p.Met1158Val	Somatic		Capture	SOLID	Phase_I	93612707	NM_025235	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.533200	0.00951	.	.	ENSG00000107854	ENST00000371627	T	0.61274	0.12	5.8	-0.0817	0.13701	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.363684	0.23041	N	0.052605	T	0.22205	0.0535	N	0.01522	-0.82	0.22819	N	0.998698	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	10	0.02654	T	1	.	11.1846	0.48648	0.5208:0.0:0.4792:0.0	.	1158	Q9H2K2	TNKS2_HUMAN	V	1158	ENSP00000360689:M1158V	ENSP00000360689:M1158V	M	+	1	0	TNKS2	93612707	0.901000	0.30685	0.991000	0.47740	0.982000	0.71751	0.104000	0.15313	-0.279000	0.09167	-0.417000	0.06048	ATG		0.338	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
SORBS1	10580	hgsc.bcm.edu	37	10	97174447	97174447	+	Missense_Mutation	SNP	G	G	T	rs372777541		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:97174447G>T	ENST00000361941.3	-	7	640	c.614C>A	c.(613-615)cCg>cAg	p.P205Q	SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.P196Q|SORBS1_ENST00000354106.3_Missense_Mutation_p.P196Q|SORBS1_ENST00000277982.5_Missense_Mutation_p.P205Q|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P205Q|SORBS1_ENST00000371246.2_Missense_Mutation_p.P205Q|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.P205Q|SORBS1_ENST00000371249.2_Missense_Mutation_p.P173Q|SORBS1_ENST00000353505.5_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.P205Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATCTAGAGTCGGGAAGGTCAG	0.637																																					p.P205Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C614A	10						.						53.0	57.0	56.0					10																	97174447		2203	4300	6503	97164437	SO:0001583	missense	10580	exon7			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.614C>A	10.37:g.97174447G>T	ENSP00000355136:p.Pro205Gln	Somatic		Capture	SOLID	Phase_I	97164437	NM_001034954		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680718	0.68042	.	.	ENSG00000095637	ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T	0.39787	1.59;1.06;1.59;1.06;1.06;1.06;1.06;1.06	5.68	4.78	0.61160	.	0.000000	0.41823	D	0.000810	T	0.60869	0.2302	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.996;1.0;0.955;0.999;0.999	T	0.64765	-0.6330	10	0.87932	D	0	-8.999	14.6447	0.68751	0.0697:0.0:0.9303:0.0	.	403;173;205;173;205;205	B7Z9B7;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66;Q9BX66-2	.;.;.;.;SRBS1_HUMAN;.	Q	173;205;205;205;196;205;205;196	ENSP00000360295:P173Q;ENSP00000360293:P205Q;ENSP00000360271:P205Q;ENSP00000360292:P205Q;ENSP00000377521:P196Q;ENSP00000355136:P205Q;ENSP00000277982:P205Q;ENSP00000277984:P196Q	ENSP00000277982:P205Q	P	-	2	0	SORBS1	97164437	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.117000	0.77129	1.417000	0.47077	0.555000	0.69702	CCG		0.637	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1		
TLL2	7093	hgsc.bcm.edu	37	10	98129929	98129929	+	Silent	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:98129929G>T	ENST00000357947.3	-	20	3031	c.2806C>A	c.(2806-2808)Cgg>Agg	p.R936R		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	936	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R936R(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCAAAGGTCCGGAATGTCAGC	0.632																																					p.R936R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2806A	10						.						98.0	80.0	86.0					10																	98129929		2203	4300	6503	98119919	SO:0001819	synonymous_variant	7093	exon20			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2806C>A	10.37:g.98129929G>T		Somatic		Capture	SOLID	Phase_I	98119919	NM_012465	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	CCDS7449.1																																																																																				0.632	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1		
CYP2E1	1571	hgsc.bcm.edu	37	10	135345127	135345127	+	Missense_Mutation	SNP	C	C	T	rs60719153	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr10:135345127C>T	ENST00000463117.2	+	5	648	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	AL161645.2_ENST00000599428.1_5'Flank|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.R126W|CYP2E1_ENST00000480558.1_3'UTR			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	126					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.R126W(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GAAGGACATCCGGCGGTTTTC	0.527									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				c|||	3	0.000599042	0.0	0.0014	5008	,	,		19799	0.0		0.002	False		,,,				2504	0.0				p.R126W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C376T	10						.	C	TRP/ARG	0,4406		0,0,2203	112.0	114.0	113.0		376	4.1	0.9	10	dbSNP_129	113	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYP2E1	NM_000773.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	126/494	135345127	1,13005	2203	4300	6503	135195117	SO:0001583	missense	1571	exon3	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.376C>T	10.37:g.135345127C>T	ENSP00000440689:p.Arg126Trp	Somatic		Capture	SOLID	Phase_I	135195117	NM_000773	Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	CCDS7686.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	15.25	2.776813	0.49786	0.0	1.16E-4	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586	T;T;T	0.42513	3.32;3.32;0.97	5.01	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	H	0.96996	3.92	0.36929	D	0.891817	D	0.89917	1.0	D	0.97110	1.0	T	0.79361	-0.1835	10	0.87932	D	0	.	6.7812	0.23646	0.1724:0.7384:0.0:0.0892	rs60719153	126	P05181	CP2E1_HUMAN	W	126;126;39	ENSP00000440689:R126W;ENSP00000252945:R126W;ENSP00000412754:R39W	ENSP00000252945:R126W	R	+	1	2	CYP2E1	135195117	0.807000	0.29009	0.889000	0.34880	0.376000	0.30014	1.432000	0.34936	1.476000	0.48215	0.655000	0.94253	CGG		0.527	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773	
SLCO4C1	353189	hgsc.bcm.edu	37	5	101575005	101575005	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:101575005G>A	ENST00000310954.6	-	12	2250	c.1964C>T	c.(1963-1965)gCt>gTt	p.A655V		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.A655D(1)|p.A655V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATCCAGCAAGCTCCTTTAAT	0.328																																					p.A655V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1964T	5						.						107.0	104.0	105.0					5																	101575005		2202	4300	6502	101602904	SO:0001583	missense	353189	exon12			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1964C>T	5.37:g.101575005G>A	ENSP00000309741:p.Ala655Val	Somatic		Capture	SOLID	Phase_I	101602904	NM_180991		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809685	0.90707	.	.	ENSG00000173930	ENST00000310954	T	0.44881	0.91	5.43	5.43	0.79202	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000003	T	0.58524	0.2128	M	0.80746	2.51	0.40663	D	0.982146	B	0.32203	0.36	P	0.44897	0.463	T	0.57676	-0.7770	10	0.31617	T	0.26	.	18.0221	0.89258	0.0:0.0:1.0:0.0	.	655	Q6ZQN7	SO4C1_HUMAN	V	655	ENSP00000309741:A655V	ENSP00000309741:A655V	A	-	2	0	SLCO4C1	101602904	1.000000	0.71417	0.907000	0.35723	0.934000	0.57294	4.906000	0.63293	2.558000	0.86282	0.650000	0.86243	GCT		0.328	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
CTNND2	1501	hgsc.bcm.edu	37	5	10988274	10988274	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:10988274T>C	ENST00000304623.8	-	20	3481	c.3292A>G	c.(3292-3294)Acc>Gcc	p.T1098A	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.T761A|CTNND2_ENST00000458100.2_Missense_Mutation_p.T665A|CTNND2_ENST00000511377.1_Missense_Mutation_p.T1007A|CTNND2_ENST00000359640.2_Missense_Mutation_p.T1040A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1098					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T1098A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCGTGGTAGGTGGCGTTGCTG	0.557											OREG0016517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T1098A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3292G	5						.						181.0	157.0	165.0					5																	10988274		2203	4300	6503	11041274	SO:0001583	missense	1501	exon20			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3292A>G	5.37:g.10988274T>C	ENSP00000307134:p.Thr1098Ala	Somatic	668	Capture	SOLID	Phase_I	11041274	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	T	9.124	1.009614	0.19277	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.76448	-0.9;-0.95;-0.9;-1.02;-1.02	5.67	1.9	0.25705	.	0.180780	0.49305	N	0.000151	T	0.64692	0.2621	L	0.36672	1.1	0.47009	D	0.999281	B;B;B	0.21905	0.062;0.034;0.0	B;B;B	0.19148	0.024;0.017;0.0	T	0.52275	-0.8597	10	0.27082	T	0.32	-5.2705	9.6541	0.39914	0.0:0.2002:0.0:0.7998	.	761;690;1098	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	A	1098;1040;1007;193;665;761	ENSP00000307134:T1098A;ENSP00000352661:T1040A;ENSP00000426510:T1007A;ENSP00000391155:T665A;ENSP00000426887:T761A	ENSP00000307134:T1098A	T	-	1	0	CTNND2	11041274	1.000000	0.71417	0.993000	0.49108	0.848000	0.48234	0.929000	0.28844	0.094000	0.17404	-0.274000	0.10170	ACC		0.557	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
PJA2	9867	hgsc.bcm.edu	37	5	108714257	108714257	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:108714257C>T	ENST00000361189.2	-	4	1170	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PJA2_ENST00000511624.1_5'Flank|PJA2_ENST00000361557.3_Missense_Mutation_p.E311K	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	311					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E311K(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ACTACCTGTTCAGGAGAACTT	0.423																																					p.E311K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G931A	5						.						169.0	173.0	172.0					5																	108714257		2202	4300	6502	108742156	SO:0001583	missense	9867	exon4			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.931G>A	5.37:g.108714257C>T	ENSP00000354775:p.Glu311Lys	Somatic		Capture	SOLID	Phase_I	108742156	NM_014819	A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030342	0.93575	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05717	3.4;3.4	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.27419	0.0673	M	0.71036	2.16	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	T	0.00181	-1.1947	10	0.87932	D	0	-20.4277	20.0018	0.97417	0.0:1.0:0.0:0.0	.	311	O43164	PJA2_HUMAN	K	311	ENSP00000354775:E311K;ENSP00000355284:E311K	ENSP00000354775:E311K	E	-	1	0	PJA2	108742156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.904000	0.69886	2.793000	0.96121	0.655000	0.94253	GAA		0.423	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819	
WDR36	134430	hgsc.bcm.edu	37	5	110448773	110448773	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:110448773G>A	ENST00000513710.2	+	16	1889	c.1885G>A	c.(1885-1887)Gct>Act	p.A629T	WDR36_ENST00000506538.2_Splice_Site_p.A629T			Q8NI36	WDR36_HUMAN	WD repeat domain 36	629					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.A629T(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TAATTTAAAGGCTTTTAGTCC	0.259																																					p.A629T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1885A	5						.						91.0	86.0	87.0					5																	110448773		2202	4300	6502	110476672	SO:0001630	splice_region_variant	134430	exon16			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1885-1G>A	5.37:g.110448773G>A		Somatic		Capture	SOLID	Phase_I	110476672	NM_139281	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	5.052	0.195258	0.09599	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.63744	-0.06;-0.06	6.06	2.83	0.33086	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.181905	0.64402	N	0.000018	T	0.53254	0.1785	L	0.59912	1.85	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.40308	-0.9570	9	.	.	.	-5.0647	8.3659	0.32387	0.5518:0.0:0.4482:0.0	.	629	Q8NI36	WDR36_HUMAN	T	629	ENSP00000423067:A629T;ENSP00000424628:A629T	.	A	+	1	0	WDR36	110476672	0.993000	0.37304	0.999000	0.59377	0.925000	0.55904	0.434000	0.21494	0.227000	0.20999	0.650000	0.86243	GCT		0.259	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281	Missense_Mutation
APC	324	hgsc.bcm.edu	37	5	112164586	112164586	+	Nonsense_Mutation	SNP	C	C	T	rs137854573		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:112164586C>T	ENST00000457016.1	+	14	2040	c.1660C>T	c.(1660-1662)Cga>Tga	p.R554*	APC_ENST00000508376.2_Nonsense_Mutation_p.R554*|CTC-554D6.1_ENST00000520401.1_Silent_p.G49G|APC_ENST00000257430.4_Nonsense_Mutation_p.R554*			P25054	APC_HUMAN	adenomatous polyposis coli	554	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R554*(10)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTTGTCTTGGCGAGCAGATGT	0.303		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R536X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,ovary,NS,Substitution - Nonsense,0	.	11	Substitution - Nonsense(10)|Unknown(1)	large_intestine(9)|ovary(1)|skin(1)	c.C1606T	5	GRCh37	CM920034	APC	M	rs137854573	.						120.0	128.0	125.0					5																	112164586		2202	4300	6502	112192485	SO:0001587	stop_gained	324	exon12	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1660C>T	5.37:g.112164586C>T	ENSP00000413133:p.Arg554*	Somatic		Capture	SOLID	Phase_I	112192485	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	39	7.421849	0.98275	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.62	1.6	0.23607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1281	16.6906	0.85320	0.7141:0.2859:0.0:0.0	.	.	.	.	X	554;536;554;554;554	.	ENSP00000257430:R554X	R	+	1	2	APC	112192485	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	0.994000	0.29693	-0.006000	0.14370	0.655000	0.94253	CGA		0.303	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175053	112175053	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:112175053T>G	ENST00000457016.1	+	16	4142	c.3762T>G	c.(3760-3762)atT>atG	p.I1254M	APC_ENST00000508376.2_Missense_Mutation_p.I1254M|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.I1254M			P25054	APC_HUMAN	adenomatous polyposis coli	1254	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		I -> F (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTTCTTCTATTAACCAAGAAA	0.383		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.I1236M	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,rectum,Substitution - Missense,+2	.	2	Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|skin(1)	c.T3708G	5						.						48.0	50.0	49.0					5																	112175053		2202	4300	6502	112202952	SO:0001583	missense	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3762T>G	5.37:g.112175053T>G	ENSP00000413133:p.Ile1254Met	Somatic		Capture	SOLID	Phase_I	112202952	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.972194	0.34754	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.91068	-2.57;-2.57;-2.57;-2.78	6.03	0.771	0.18504	.	0.069268	0.64402	D	0.000017	D	0.90473	0.7016	L	0.32530	0.975	0.39329	D	0.965371	P;D	0.65815	0.856;0.995	B;D	0.75484	0.426;0.986	D	0.86921	0.2067	9	.	.	.	-11.9445	10.7286	0.46083	0.0:0.4804:0.0:0.5196	.	1256;1254	Q4LE70;P25054	.;APC_HUMAN	M	1254	ENSP00000413133:I1254M;ENSP00000257430:I1254M;ENSP00000427089:I1254M;ENSP00000423828:I1254M	.	I	+	3	3	APC	112202952	0.992000	0.36948	0.998000	0.56505	0.989000	0.77384	0.099000	0.15210	0.062000	0.16340	-0.408000	0.06270	ATT		0.383	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175736	112175736	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:112175736T>C	ENST00000457016.1	+	16	4825	c.4445T>C	c.(4444-4446)cTt>cCt	p.L1482P	APC_ENST00000508376.2_Missense_Mutation_p.L1482P|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.L1482P			P25054	APC_HUMAN	adenomatous polyposis coli	1482	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1454fs*3(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTCCAGGTTCTTCCAGATGCT	0.448		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.L1464P	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,appendix,Substitution - Missense,+1	.	3	Unknown(1)|Complex - frameshift(1)|Deletion - Frameshift(1)	thyroid(1)|soft_tissue(1)|skin(1)	c.T4391C	5						.						71.0	72.0	72.0					5																	112175736		2202	4300	6502	112203635	SO:0001583	missense	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4445T>C	5.37:g.112175736T>C	ENSP00000413133:p.Leu1482Pro	Somatic		Capture	SOLID	Phase_I	112203635	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040863	0.35989	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89123	-2.47;-2.47;-2.47	6.16	6.16	0.99307	.	0.151038	0.43747	D	0.000528	D	0.89701	0.6791	N	0.17082	0.46	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.995	D	0.89020	0.3434	9	.	.	.	-13.0638	16.8061	0.85666	0.0:0.0:0.0:1.0	.	1484;1482	Q4LE70;P25054	.;APC_HUMAN	P	1482	ENSP00000413133:L1482P;ENSP00000257430:L1482P;ENSP00000427089:L1482P	.	L	+	2	0	APC	112203635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.396000	0.73234	2.367000	0.80283	0.528000	0.53228	CTT		0.448	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
SNCAIP	9627	hgsc.bcm.edu	37	5	121758834	121758834	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:121758834T>C	ENST00000261368.8	+	4	664	c.402T>C	c.(400-402)tcT>tcC	p.S134S	SNCAIP_ENST00000379536.2_Silent_p.S134S|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Silent_p.S181S|SNCAIP_ENST00000503116.2_Silent_p.S181S|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000261367.7_Silent_p.S181S	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	134					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.S181S(2)|p.S134S(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTAAGAGCTCTGAGCCCAGCA	0.567																																					p.S134S												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.T402C	5						.						48.0	53.0	51.0					5																	121758834		2203	4300	6503	121786733	SO:0001819	synonymous_variant	9627	exon4			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.402T>C	5.37:g.121758834T>C		Somatic		Capture	SOLID	Phase_I	121786733	NM_005460	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	CCDS4131.1																																																																																				0.567	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1		
SLC6A18	348932	hgsc.bcm.edu	37	5	1244437	1244437	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:1244437T>C	ENST00000324642.3	+	10	1568	c.1445T>C	c.(1444-1446)aTg>aCg	p.M482T	SLC6A18_ENST00000296821.4_Missense_Mutation_p.M380T	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	482					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.M482T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AACCTGCTCATGTTGGCCTTT	0.577																																					p.M482T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1445C	5						.						160.0	161.0	161.0					5																	1244437		2203	4300	6503	1297437	SO:0001583	missense	348932	exon10			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1445T>C	5.37:g.1244437T>C	ENSP00000323549:p.Met482Thr	Somatic		Capture	SOLID	Phase_I	1297437	NM_182632		Missense_Mutation	SNP	ENST00000324642.3	37	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.393351	0.25205	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.73575	-0.76;-0.76	4.87	2.47	0.30058	.	0.922620	0.09243	N	0.828995	T	0.48926	0.1527	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40059	-0.9583	10	0.52906	T	0.07	.	6.942	0.24498	0.0:0.1898:0.0:0.8102	.	482	Q96N87	S6A18_HUMAN	T	482;380	ENSP00000323549:M482T;ENSP00000296821:M380T	ENSP00000296821:M380T	M	+	2	0	SLC6A18	1297437	0.780000	0.28664	0.001000	0.08648	0.006000	0.05464	3.323000	0.52014	0.246000	0.21394	0.459000	0.35465	ATG		0.577	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632	
ADAMTS19	171019	hgsc.bcm.edu	37	5	128956428	128956428	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:128956428G>T	ENST00000274487.4	+	9	1723	c.1578G>T	c.(1576-1578)aaG>aaT	p.K526N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	526	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K526N(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GATGTAGCAAGGAAGATTTGG	0.403																																					p.K526N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1578T	5						.						225.0	213.0	217.0					5																	128956428		2203	4300	6503	128984327	SO:0001583	missense	171019	exon9			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1578G>T	5.37:g.128956428G>T	ENSP00000274487:p.Lys526Asn	Somatic		Capture	SOLID	Phase_I	128984327	NM_133638		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021867	0.54576	.	.	ENSG00000145808	ENST00000274487	D	0.87103	-2.21	4.51	0.758	0.18432	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.071082	0.49916	D	0.000130	T	0.81133	0.4759	N	0.16656	0.425	0.31128	N	0.708024	P	0.45634	0.863	P	0.52386	0.697	T	0.77773	-0.2462	9	.	.	.	.	9.193	0.37211	0.4722:0.0:0.5278:0.0	.	526	Q8TE59	ATS19_HUMAN	N	526	ENSP00000274487:K526N	.	K	+	3	2	ADAMTS19	128984327	0.635000	0.27199	0.999000	0.59377	0.995000	0.86356	-0.359000	0.07632	0.112000	0.17975	-0.137000	0.14449	AAG		0.403	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
ACSL6	23305	hgsc.bcm.edu	37	5	131326549	131326549	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:131326549A>G	ENST00000379240.1	-	3	460	c.307T>C	c.(307-309)Tca>Cca	p.S103P	ACSL6_ENST00000544770.1_Missense_Mutation_p.S12P|ACSL6_ENST00000431707.1_Missense_Mutation_p.S68P|ACSL6_ENST00000379249.3_Missense_Mutation_p.S103P|ACSL6_ENST00000477640.1_5'Flank|ACSL6_ENST00000379264.2_Missense_Mutation_p.S128P|ACSL6_ENST00000379272.2_Missense_Mutation_p.S103P|ACSL6_ENST00000296869.4_Missense_Mutation_p.S128P|ACSL6_ENST00000379255.1_Missense_Mutation_p.S68P|ACSL6_ENST00000379244.1_Missense_Mutation_p.S103P|ACSL6_ENST00000543479.1_Missense_Mutation_p.S103P|ACSL6_ENST00000379246.1_Missense_Mutation_p.S114P|ACSL6_ENST00000357096.1_Missense_Mutation_p.S68P			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	103					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.S128P(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTCACCTGAGATGCTAAGC	0.607																																					p.S128P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T382C	5						.						96.0	82.0	86.0					5																	131326549		2203	4300	6503	131354448	SO:0001583	missense	23305	exon3			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.307T>C	5.37:g.131326549A>G	ENSP00000368542:p.Ser103Pro	Somatic		Capture	SOLID	Phase_I	131354448	NM_001009185	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37		.	.	.	.	.	.	.	.	.	.	a	20.1	3.935981	0.73442	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099;ENST00000430403;ENST00000419502;ENST00000416557;ENST00000414078;ENST00000441995	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.55	5.55	0.83447	.	0.058330	0.64402	D	0.000001	T	0.30448	0.0765	M	0.85197	2.74	0.80722	D	1	P;P;P;P;P;P;P	0.45474	0.552;0.859;0.78;0.633;0.859;0.859;0.859	P;P;B;B;P;P;P	0.52514	0.525;0.701;0.428;0.325;0.701;0.701;0.701	T	0.04915	-1.0918	10	0.45353	T	0.12	.	15.7009	0.77541	1.0:0.0:0.0:0.0	.	103;103;93;103;68;128;128	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	P	103;128;103;68;68;128;114;103;12;103;68;103;68;103;103;103;103;68	ENSP00000368551:S103P;ENSP00000368566:S128P;ENSP00000368574:S103P;ENSP00000349608:S68P;ENSP00000368557:S68P;ENSP00000296869:S128P;ENSP00000368548:S114P;ENSP00000368546:S103P;ENSP00000445154:S12P;ENSP00000368542:S103P;ENSP00000413329:S68P;ENSP00000442124:S103P;ENSP00000397507:S68P;ENSP00000398423:S103P;ENSP00000388424:S103P;ENSP00000398381:S103P;ENSP00000394810:S103P;ENSP00000389189:S68P	ENSP00000296869:S128P	S	-	1	0	ACSL6	131354448	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.731000	0.62022	2.123000	0.65237	0.398000	0.26397	TCA		0.607	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256	
SPOCK1	6695	hgsc.bcm.edu	37	5	136834147	136834147	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:136834147T>C	ENST00000394945.1	-	2	270	c.101A>G	c.(100-102)aAc>aGc	p.N34S	SPOCK1_ENST00000282223.7_Missense_Mutation_p.N34S	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	34					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.N34S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTGCCGTGGTTGGGGCCCGC	0.677																																					p.N34S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A101G	5						.						20.0	20.0	20.0					5																	136834147		2202	4299	6501	136862046	SO:0001583	missense	6695	exon2			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.101A>G	5.37:g.136834147T>C	ENSP00000378401:p.Asn34Ser	Somatic		Capture	SOLID	Phase_I	136862046	NM_004598	B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831660	0.50845	.	.	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000505690	T;T;T	0.44482	0.92;0.92;0.94	3.14	3.14	0.36123	.	0.214361	0.31167	N	0.008137	T	0.28234	0.0697	L	0.29908	0.895	0.26927	N	0.966552	B	0.12630	0.006	B	0.14578	0.011	T	0.13361	-1.0512	10	0.30078	T	0.28	.	9.5416	0.39255	0.0:0.0:0.0:1.0	.	34	Q08629	TICN1_HUMAN	S	34	ENSP00000378401:N34S;ENSP00000282223:N34S;ENSP00000424517:N34S	ENSP00000282223:N34S	N	-	2	0	SPOCK1	136862046	0.994000	0.37717	1.000000	0.80357	0.981000	0.71138	1.134000	0.31442	1.439000	0.47511	0.379000	0.24179	AAC		0.677	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598	
SLC23A1	9963	hgsc.bcm.edu	37	5	138716072	138716072	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:138716072C>T	ENST00000348729.3	-	6	518	c.472G>A	c.(472-474)Ggt>Agt	p.G158S	SLC23A1_ENST00000353963.3_Missense_Mutation_p.G162S|SLC23A1_ENST00000503919.1_5'Flank	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	158					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)	p.G162S(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	ATGATTGCACCCTGGACCTGG	0.582																																					p.G158S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G472A	5						.						50.0	50.0	50.0					5																	138716072		2203	4300	6503	138743971	SO:0001583	missense	9963	exon6			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.472G>A	5.37:g.138716072C>T	ENSP00000302701:p.Gly158Ser	Somatic		Capture	SOLID	Phase_I	138743971	NM_005847	O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172501	0.94807	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000453898	T;T	0.23348	1.91;1.91	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.75238	-0.3388	10	0.87932	D	0	-24.9287	16.9686	0.86293	0.0:1.0:0.0:0.0	.	158;162	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	S	162;158;197	ENSP00000302851:G162S;ENSP00000302701:G158S	ENSP00000302701:G158S	G	-	1	0	SLC23A1	138743971	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.629000	0.83207	2.536000	0.85505	0.561000	0.74099	GGT		0.582	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685	
SLC35A4	113829	hgsc.bcm.edu	37	5	139947046	139947046	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:139947046G>A	ENST00000514199.1	+	2	1978	c.292G>A	c.(292-294)Gct>Act	p.A98T	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.A98T|APBB3_ENST00000357560.4_5'Flank			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	98	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)	p.A98T(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTATGGCGCTAACAACAA	0.582																																					p.A98T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G292A	5						.						51.0	50.0	50.0					5																	139947046		2203	4300	6503	139927230	SO:0001583	missense	113829	exon3			AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.292G>A	5.37:g.139947046G>A	ENSP00000424566:p.Ala98Thr	Somatic		Capture	SOLID	Phase_I	139927230	NM_080670	A8K013	Missense_Mutation	SNP	ENST00000514199.1	37	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769684	0.49680	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.42131	0.98;0.98	5.03	3.25	0.37280	.	0.212421	0.42172	D	0.000756	T	0.31544	0.0800	L	0.53249	1.67	0.43462	D	0.995662	P	0.38300	0.626	B	0.27170	0.077	T	0.07385	-1.0775	9	.	.	.	2.8762	11.0304	0.47769	0.1507:0.0:0.8493:0.0	.	98	Q96G79	S35A4_HUMAN	T	98	ENSP00000327133:A98T;ENSP00000424566:A98T	.	A	+	1	0	SLC35A4	139927230	0.997000	0.39634	0.998000	0.56505	0.611000	0.37282	2.722000	0.47269	0.713000	0.32060	0.407000	0.27541	GCT		0.582	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670	
PCDHA10	56139	hgsc.bcm.edu	37	5	140236799	140236799	+	Missense_Mutation	SNP	C	C	T	rs193920994		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:140236799C>T	ENST00000307360.5	+	1	1166	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.T389M|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	389	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T389M(6)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCTCTGACGCCTCACGTT	0.552																																					p.T389M												.	.	6	Substitution - Missense(6)	cervix(2)|large_intestine(2)|lung(2)	c.C1166T	5						.						150.0	130.0	137.0					5																	140236799		2196	4275	6471	140216983	SO:0001583	missense	56139	exon1			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1166C>T	5.37:g.140236799C>T	ENSP00000304234:p.Thr389Met	Somatic		Capture	SOLID	Phase_I	140216983	NM_031860	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	1.826	-0.470985	0.04445	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.53206	4.6;0.63	4.0	0.86	0.19042	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29783	0.0744	L	0.39020	1.185	0.09310	N	1	P;P;B	0.46512	0.879;0.83;0.029	B;B;B	0.37239	0.244;0.16;0.04	T	0.12630	-1.0540	9	0.38643	T	0.18	.	4.5978	0.12338	0.1216:0.562:0.2188:0.0975	.	389;389;389	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	M	389	ENSP00000421030:T389M;ENSP00000304234:T389M	ENSP00000304234:T389M	T	+	2	0	PCDHA10	140216983	0.000000	0.05858	0.000000	0.03702	0.577000	0.36160	-3.952000	0.00327	0.414000	0.25790	-0.291000	0.09656	ACG		0.552	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHA10	56139	hgsc.bcm.edu	37	5	140236826	140236826	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:140236826C>T	ENST00000307360.5	+	1	1193	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S398F|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	398	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S398F(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTGGTGTCCACCTACAAG	0.597																																					p.S398F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1193T	5						.						148.0	131.0	137.0					5																	140236826		2197	4273	6470	140217010	SO:0001583	missense	56139	exon1			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1193C>T	5.37:g.140236826C>T	ENSP00000304234:p.Ser398Phe	Somatic		Capture	SOLID	Phase_I	140217010	NM_031860	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989671	0.53934	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.54279	4.68;0.58	4.0	4.0	0.46444	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73426	0.3585	M	0.82716	2.605	0.28907	N	0.892958	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.81914	0.995;0.992;0.964	T	0.68557	-0.5377	9	0.72032	D	0.01	.	13.3096	0.60371	0.1583:0.8417:0.0:0.0	.	398;398;398	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	F	398	ENSP00000421030:S398F;ENSP00000304234:S398F	ENSP00000304234:S398F	S	+	2	0	PCDHA10	140217010	0.000000	0.05858	1.000000	0.80357	0.889000	0.51656	-0.018000	0.12568	2.209000	0.71365	0.561000	0.74099	TCC		0.597	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHAC1	56135	hgsc.bcm.edu	37	5	140307699	140307699	+	Missense_Mutation	SNP	A	A	C	rs200013855		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:140307699A>C	ENST00000253807.2	+	1	1222	c.1222A>C	c.(1222-1224)Atc>Ctc	p.I408L	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.I408L|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGAGCAGATCAGTGAATA	0.527																																					p.I408L												.	.	0			c.A1222C	5						.	A	LEU/ILE,,,,,,,,,,,,,,,,,LEU/ILE	0,4406		0,0,2203	81.0	80.0	80.0		1222,,,,,,,,,,,,,,,,,1222	0.0	0.0	5		80	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHA9,PCDHAC1,PCDHA13,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018898.3,NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018904.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031882.2	5,,,,,,,,,,,,,,,,,5	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	,,,,,,,,,,,,,,,,,	408/964,,,,,,,,,,,,,,,,,408/819	140307699	1,13005	2203	4300	6503	140287883	SO:0001583	missense	56135	exon1			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1222A>C	5.37:g.140307699A>C	ENSP00000253807:p.Ile408Leu	Somatic		Capture	SOLID	Phase_I	140287883	NM_031882	Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	A	9.892	1.204608	0.22205	0.0	1.16E-4	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.01685	4.69;4.69	5.81	0.0164	0.14108	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02047	0.0064	L	0.37466	1.105	0.09310	N	1	B;B	0.16603	0.018;0.002	B;B	0.17098	0.017;0.008	T	0.41716	-0.9493	9	0.39692	T	0.17	.	11.6211	0.51119	0.4166:0.0:0.5834:0.0	.	408;408	Q9H158;Q9H158-2	PCDC1_HUMAN;.	L	408	ENSP00000386356:I408L;ENSP00000253807:I408L	ENSP00000253807:I408L	I	+	1	0	PCDHAC1	140287883	0.000000	0.05858	0.001000	0.08648	0.842000	0.47809	0.800000	0.27042	-0.010000	0.14271	0.379000	0.24179	ATC		0.527	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898	
PCDHAC1	56135	hgsc.bcm.edu	37	5	140308034	140308034	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:140308034G>T	ENST00000253807.2	+	1	1557	c.1557G>T	c.(1555-1557)agG>agT	p.R519S	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R519S|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	519	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGCTCAGGGGGTTTCATT	0.478																																					p.R519S												.	.	0			c.G1557T	5						.						87.0	93.0	91.0					5																	140308034		2203	4300	6503	140288218	SO:0001583	missense	56135	exon1			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1557G>T	5.37:g.140308034G>T	ENSP00000253807:p.Arg519Ser	Somatic		Capture	SOLID	Phase_I	140288218	NM_031882	Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128830	0.37533	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.01126	5.3;5.3	5.76	3.99	0.46301	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.02156	0.0067	L	0.41824	1.3	0.18873	N	0.999987	P;P	0.46952	0.887;0.728	P;P	0.48677	0.575;0.586	T	0.48625	-0.9019	9	0.87932	D	0	.	9.6241	0.39739	0.2731:0.0:0.7269:0.0	.	519;519	Q9H158;Q9H158-2	PCDC1_HUMAN;.	S	519	ENSP00000386356:R519S;ENSP00000253807:R519S	ENSP00000253807:R519S	R	+	3	2	PCDHAC1	140288218	1.000000	0.71417	0.548000	0.28192	0.731000	0.41821	3.107000	0.50329	0.790000	0.33803	-0.251000	0.11542	AGG		0.478	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898	
PCDHGA2	56113	hgsc.bcm.edu	37	5	140719682	140719682	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:140719682A>G	ENST00000394576.2	+	1	1144	c.1144A>G	c.(1144-1146)Acc>Gcc	p.T382A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	382	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T382A(1)		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)			GAACGCATTCACCACCTGTTC	0.443																																					p.T382A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1144G	5						.						81.0	83.0	82.0					5																	140719682		2203	4300	6503	140699866	SO:0001583	missense	56113	exon1			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.1144A>G	5.37:g.140719682A>G	ENSP00000378077:p.Thr382Ala	Somatic		Capture	SOLID	Phase_I	140699866	NM_032009	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	4.456	0.084469	0.08583	.	.	ENSG00000081853	ENST00000394576	T	0.47177	0.85	4.9	-4.92	0.03075	Cadherin (4);Cadherin-like (1);	0.869333	0.09469	U	0.797927	T	0.32675	0.0837	L	0.41710	1.295	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.11329	0.005;0.006	T	0.38478	-0.9659	10	0.87932	D	0	.	5.9533	0.19259	0.1442:0.134:0.5883:0.1334	.	382;382	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	A	382	ENSP00000378077:T382A	ENSP00000378077:T382A	T	+	1	0	PCDHGA2	140699866	0.038000	0.19896	0.123000	0.21794	0.003000	0.03518	0.401000	0.20948	-0.739000	0.04809	-0.695000	0.03696	ACC		0.443	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
PCDHGC3	5098	hgsc.bcm.edu	37	5	140855707	140855707	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:140855707C>T	ENST00000308177.3	+	1	128	c.24C>T	c.(22-24)agC>agT	p.S8S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	8					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S8S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGAGGAGCGGACTGGTAA	0.552																																					p.S8S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C24T	5						.						111.0	125.0	120.0					5																	140855707		2203	4300	6503	140835891	SO:0001819	synonymous_variant	5098	exon1			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.24C>T	5.37:g.140855707C>T		Somatic		Capture	SOLID	Phase_I	140835891	NM_032402	O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	CCDS4261.1																																																																																				0.552	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588	
PCDHGC3	5098	hgsc.bcm.edu	37	5	140855883	140855883	+	Missense_Mutation	SNP	G	G	T	rs536532455		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:140855883G>T	ENST00000308177.3	+	1	304	c.200G>T	c.(199-201)cGg>cTg	p.R67L	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.			R -> P (in Ref. 1; AAA75391). {ECO:0000305}.	calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R67L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGTTCCGGGTGGTGTCT	0.572																																					p.R67L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G200T	5						.						121.0	127.0	125.0					5																	140855883		2203	4300	6503	140836067	SO:0001583	missense	5098	exon1			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.200G>T	5.37:g.140855883G>T	ENSP00000312070:p.Arg67Leu	Somatic		Capture	SOLID	Phase_I	140836067	NM_032402	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824466	0.50739	.	.	ENSG00000240184	ENST00000308177	T	0.38401	1.14	5.65	1.78	0.24846	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.48822	0.1521	H	0.94582	3.555	0.27815	N	0.942013	B;B	0.19583	0.018;0.037	B;B	0.23852	0.042;0.049	T	0.54364	-0.8305	9	0.87932	D	0	.	7.4409	0.27183	0.0629:0.1065:0.6116:0.219	.	67;67	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	L	67	ENSP00000312070:R67L	ENSP00000312070:R67L	R	+	2	0	PCDHGC3	140836067	0.999000	0.42202	1.000000	0.80357	0.957000	0.61999	2.236000	0.43052	0.922000	0.37019	0.655000	0.94253	CGG		0.572	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588	
PCDHGC3	5098	hgsc.bcm.edu	37	5	140856327	140856327	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:140856327C>T	ENST00000308177.3	+	1	748	c.644C>T	c.(643-645)aCg>aTg	p.T215M	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	215	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T215M(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGTGCTGACGGCGTTGGAC	0.622																																					p.T215M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C644T	5						.						40.0	31.0	34.0					5																	140856327		2203	4300	6503	140836511	SO:0001583	missense	5098	exon1			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.644C>T	5.37:g.140856327C>T	ENSP00000312070:p.Thr215Met	Somatic		Capture	SOLID	Phase_I	140836511	NM_032402	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381346	0.42207	.	.	ENSG00000240184	ENST00000308177	T	0.21543	2.0	5.15	5.15	0.70609	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.51160	0.1658	M	0.81112	2.525	0.44098	D	0.996865	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.53995	-0.8359	9	0.59425	D	0.04	.	18.8236	0.92108	0.0:1.0:0.0:0.0	.	215;215	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	M	215	ENSP00000312070:T215M	ENSP00000312070:T215M	T	+	2	0	PCDHGC3	140836511	1.000000	0.71417	0.985000	0.45067	0.046000	0.14306	7.640000	0.83355	2.662000	0.90505	0.655000	0.94253	ACG		0.622	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588	
AFAP1L1	134265	hgsc.bcm.edu	37	5	148679123	148679123	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:148679123A>T	ENST00000296721.4	+	2	166	c.68A>T	c.(67-69)cAc>cTc	p.H23L	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Missense_Mutation_p.H23L	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	23						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.H23L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGGACCACGAGTACCTC	0.642																																					p.H23L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A68T	5						.						76.0	72.0	73.0					5																	148679123		2203	4300	6503	148659316	SO:0001583	missense	134265	exon2			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.68A>T	5.37:g.148679123A>T	ENSP00000296721:p.His23Leu	Somatic		Capture	SOLID	Phase_I	148659316	NM_152406	Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.832185	0.50845	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.47177	0.85;0.85	4.65	4.65	0.58169	.	0.229694	0.45126	D	0.000398	T	0.46405	0.1391	M	0.66939	2.045	0.47441	D	0.999423	P;B;P	0.41848	0.604;0.181;0.763	B;B;B	0.36608	0.206;0.036;0.229	T	0.56866	-0.7908	10	0.72032	D	0.01	-6.4166	14.529	0.67912	1.0:0.0:0.0:0.0	.	23;23;23	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	L	23	ENSP00000296721:H23L;ENSP00000424427:H23L	ENSP00000296721:H23L	H	+	2	0	AFAP1L1	148659316	1.000000	0.71417	0.964000	0.40570	0.707000	0.40811	4.290000	0.59019	2.072000	0.62099	0.460000	0.39030	CAC		0.642	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406	
AFAP1L1	134265	hgsc.bcm.edu	37	5	148685906	148685906	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:148685906C>T	ENST00000296721.4	+	6	572	c.474C>T	c.(472-474)taC>taT	p.Y158Y	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Silent_p.Y158Y	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	158						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Y158Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATGGCTACTATGAGGACG	0.577																																					p.Y158Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C474T	5						.						58.0	48.0	52.0					5																	148685906		2203	4300	6503	148666099	SO:0001819	synonymous_variant	134265	exon6			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.474C>T	5.37:g.148685906C>T		Somatic		Capture	SOLID	Phase_I	148666099	NM_152406	Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	37	CCDS34274.1																																																																																				0.577	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406	
SLC6A3	6531	hgsc.bcm.edu	37	5	1443058	1443058	+	Silent	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:1443058C>A	ENST00000270349.9	-	2	382	c.255G>T	c.(253-255)cgG>cgT	p.R85R	SLC6A3_ENST00000453492.2_Silent_p.R85R	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	85					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.R85R(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGTAGGGGAACCGCCAGACGT	0.637																																					p.R85R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G255T	5						.						92.0	90.0	90.0					5																	1443058		2203	4300	6503	1496058	SO:0001819	synonymous_variant	6531	exon2				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.255G>T	5.37:g.1443058C>A		Somatic		Capture	SOLID	Phase_I	1496058	NM_001044	A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	CCDS3863.1																																																																																				0.637	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044	
PCYOX1L	78991	hgsc.bcm.edu	37	5	148746994	148746994	+	Missense_Mutation	SNP	G	G	A	rs377373868		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:148746994G>A	ENST00000274569.4	+	5	816	c.754G>A	c.(754-756)Ggt>Agt	p.G252S	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.G162S	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	252					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)	p.G252S(1)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTTGTTCCGGTTTGCTGAA	0.587											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G252S	Ovarian(62;1136 1477 27277 27495)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G754A	5						.						172.0	137.0	149.0					5																	148746994		2203	4300	6503	148727187	SO:0001583	missense	78991	exon5				CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.754G>A	5.37:g.148746994G>A	ENSP00000274569:p.Gly252Ser	Somatic	1719	Capture	SOLID	Phase_I	148727187	NM_024028	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	G	36	5.604081	0.96626	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.16457	2.34;2.34	5.67	5.67	0.87782	Prenylcysteine lyase (1);	0.054231	0.85682	D	0.000000	T	0.44095	0.1277	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.917;0.917	T	0.31696	-0.9934	10	0.10902	T	0.67	-4.721	19.7824	0.96422	0.0:0.0:1.0:0.0	.	134;162;252	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	S	252;162	ENSP00000274569:G252S;ENSP00000428512:G162S	ENSP00000274569:G252S	G	+	1	0	PCYOX1L	148727187	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.986000	0.88173	2.677000	0.91161	0.561000	0.74099	GGT		0.587	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028	
MYOZ3	91977	hgsc.bcm.edu	37	5	150050172	150050172	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:150050172C>A	ENST00000297130.4	+	3	387	c.188C>A	c.(187-189)aCt>aAt	p.T63N	CTC-345K18.2_ENST00000511626.2_RNA|MYOZ3_ENST00000517768.1_Missense_Mutation_p.T63N|MYOZ3_ENST00000520112.1_5'Flank	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3									p.T63N(1)		large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAAGTTCACTTTCGAGTTA	0.562																																					p.T63N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C188A	5						.						51.0	42.0	45.0					5																	150050172		2203	4300	6503	150030365	SO:0001583	missense	91977	exon3			AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"""calsarcin 3"", ""FATZ related protein 3"""	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.188C>A	5.37:g.150050172C>A	ENSP00000297130:p.Thr63Asn	Somatic		Capture	SOLID	Phase_I	150030365	NM_001122853		Missense_Mutation	SNP	ENST00000297130.4	37	CCDS4309.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901289	0.72754	.	.	ENSG00000164591	ENST00000517768;ENST00000297130	T;T	0.68903	-0.36;-0.36	4.89	3.91	0.45181	.	0.564241	0.17235	N	0.181774	T	0.79399	0.4439	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.78788	-0.2067	10	0.72032	D	0.01	-10.1703	7.8248	0.29309	0.0:0.7909:0.0:0.2091	.	63	Q8TDC0	MYOZ3_HUMAN	N	63	ENSP00000428815:T63N;ENSP00000297130:T63N	ENSP00000297130:T63N	T	+	2	0	MYOZ3	150030365	0.997000	0.39634	0.998000	0.56505	0.928000	0.56348	2.977000	0.49297	1.022000	0.39626	0.555000	0.69702	ACT		0.562	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853	
FAT2	2196	hgsc.bcm.edu	37	5	150891829	150891829	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:150891829G>A	ENST00000261800.5	-	20	11814	c.11802C>T	c.(11800-11802)ggC>ggT	p.G3934G	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3934	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)	p.G3934G(1)		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)			TCTCCAGCAAGCCTGCCACCG	0.592																																					p.G3934G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C11802T	5						.						67.0	61.0	63.0					5																	150891829		2203	4300	6503	150872022	SO:0001819	synonymous_variant	2196	exon20			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.11802C>T	5.37:g.150891829G>A		Somatic		Capture	SOLID	Phase_I	150872022	NM_001447	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	0.340	-0.951037	0.02285	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.16	2.34	0.29019	.	.	.	.	.	T	0.26629	0.0651	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21621	-1.0240	4	.	.	.	.	4.9811	0.14166	0.1647:0.0:0.4756:0.3597	.	.	.	.	F	707	.	.	L	-	1	0	FAT2	150872022	0.006000	0.16342	0.006000	0.13384	0.219000	0.24729	0.356000	0.20181	0.256000	0.21614	0.655000	0.94253	CTT		0.592	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAM71B	153745	hgsc.bcm.edu	37	5	156590052	156590052	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:156590052C>G	ENST00000302938.4	-	2	1319	c.1224G>C	c.(1222-1224)atG>atC	p.M408I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	408						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCGTTCACTCATGTAGCCTT	0.498																																					p.M408I												.	.	0			c.G1224C	5						.						88.0	90.0	89.0					5																	156590052		2203	4300	6503	156522630	SO:0001583	missense	153745	exon2				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1224G>C	5.37:g.156590052C>G	ENSP00000305596:p.Met408Ile	Somatic		Capture	SOLID	Phase_I	156522630	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	7.576	0.667706	0.14710	.	.	ENSG00000170613	ENST00000302938	T	0.18338	2.22	4.26	4.26	0.50523	.	0.133648	0.34828	N	0.003660	T	0.18635	0.0447	M	0.72118	2.19	0.33673	D	0.611125	P	0.35383	0.498	B	0.30401	0.115	T	0.25710	-1.0124	10	0.27082	T	0.32	-25.7394	12.8995	0.58117	0.0:1.0:0.0:0.0	.	408	Q8TC56	FA71B_HUMAN	I	408	ENSP00000305596:M408I	ENSP00000305596:M408I	M	-	3	0	FAM71B	156522630	1.000000	0.71417	0.551000	0.28230	0.030000	0.12068	3.265000	0.51561	2.284000	0.76573	0.561000	0.74099	ATG		0.498	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
FNDC9	408263	hgsc.bcm.edu	37	5	156770020	156770020	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:156770020C>T	ENST00000312349.4	-	2	712	c.525G>A	c.(523-525)ctG>ctA	p.L175L	CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000521420.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	175						integral component of membrane (GO:0016021)		p.L175L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGAGCCCCTGCAGGTCTTCCT	0.617											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L175L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G525A	5						.						80.0	83.0	82.0					5																	156770020		2203	4300	6503	156702598	SO:0001819	synonymous_variant	408263	exon2			BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.525G>A	5.37:g.156770020C>T		Somatic	1781	Capture	SOLID	Phase_I	156702598	NM_001001343	A8K0Y6	Silent	SNP	ENST00000312349.4	37	CCDS4337.1																																																																																				0.617	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343	
SOX30	11063	hgsc.bcm.edu	37	5	157065251	157065251	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:157065251A>G	ENST00000265007.6	-	4	2208	c.1867T>C	c.(1867-1869)Tac>Cac	p.Y623H	SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Missense_Mutation_p.Y318H	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	623	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Y623H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGGGAAGTAGTGAGGTCCG	0.408																																					p.Y623H	Esophageal Squamous(31;525 799 19355 21125 41744)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1867C	5						.						69.0	69.0	69.0					5																	157065251		2203	4300	6503	156997829	SO:0001583	missense	11063	exon4			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1867T>C	5.37:g.157065251A>G	ENSP00000265007:p.Tyr623His	Somatic		Capture	SOLID	Phase_I	156997829	NM_178424	O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.749692	0.69533	.	.	ENSG00000039600	ENST00000265007;ENST00000519442	D;D	0.98329	-4.75;-4.87	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000020	D	0.97766	0.9267	L	0.27053	0.805	0.37641	D	0.922035	D;D	0.89917	0.998;1.0	D;D	0.74348	0.96;0.983	D	0.99950	1.1531	10	0.87932	D	0	.	14.373	0.66854	1.0:0.0:0.0:0.0	.	318;623	B4DXW7;O94993	.;SOX30_HUMAN	H	623;318	ENSP00000265007:Y623H;ENSP00000427984:Y318H	ENSP00000265007:Y623H	Y	-	1	0	SOX30	156997829	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.046000	0.71029	2.135000	0.66039	0.528000	0.53228	TAC		0.408	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017	
EBF1	1879	hgsc.bcm.edu	37	5	158524037	158524037	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:158524037C>T	ENST00000313708.6	-	2	518	c.236G>A	c.(235-237)gGc>gAc	p.G79D	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.G79D|EBF1_ENST00000517373.1_Missense_Mutation_p.G79D	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	79					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G79D(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACGGGCTGGCCCTGTCTGTC	0.627			T	HMGA2	lipoma																																p.G79D			Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G236A	5						.						51.0	44.0	46.0					5																	158524037		2203	4300	6503	158456615	SO:0001583	missense	1879	exon2			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.236G>A	5.37:g.158524037C>T	ENSP00000322898:p.Gly79Asp	Somatic		Capture	SOLID	Phase_I	158456615	NM_024007	Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356321	0.95854	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.53206	0.63;0.67;0.73	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.996	D;D;D	0.79784	0.972;0.993;0.956	T	0.77437	-0.2588	10	0.72032	D	0.01	-6.7305	19.6909	0.96000	0.0:1.0:0.0:0.0	.	79;79;79	A8K0Z7;Q9UH73;Q9UH73-2	.;COE1_HUMAN;.	D	79	ENSP00000322898:G79D;ENSP00000370029:G79D;ENSP00000428020:G79D	ENSP00000322898:G79D	G	-	2	0	EBF1	158456615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.804000	0.85993	2.643000	0.89663	0.561000	0.74099	GGC		0.627	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	
IL12B	3593	hgsc.bcm.edu	37	5	158750257	158750257	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:158750257C>G	ENST00000231228.2	-	3	624	c.169G>C	c.(169-171)Ggt>Cgt	p.G57R		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	57	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGTGATACCATCTTCTTCA	0.507																																					p.G57R												.	.	0			c.G169C	5						.						93.0	83.0	86.0					5																	158750257		2203	4300	6503	158682835	SO:0001583	missense	3593	exon3			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.169G>C	5.37:g.158750257C>G	ENSP00000231228:p.Gly57Arg	Somatic		Capture	SOLID	Phase_I	158682835	NM_002187		Missense_Mutation	SNP	ENST00000231228.2	37	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451998	0.43531	.	.	ENSG00000113302	ENST00000231228	T	0.22134	1.97	6.17	4.1	0.47936	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.053860	0.07226	N	0.861779	T	0.19967	0.0480	L	0.47716	1.5	0.09310	N	1	P	0.46220	0.874	B	0.38616	0.277	T	0.11494	-1.0585	10	0.30854	T	0.27	-5.8418	9.6222	0.39727	0.0:0.8209:0.0:0.1791	.	57	P29460	IL12B_HUMAN	R	57	ENSP00000231228:G57R	ENSP00000231228:G57R	G	-	1	0	IL12B	158682835	0.051000	0.20477	0.292000	0.24919	0.945000	0.59286	0.780000	0.26760	1.630000	0.50440	0.655000	0.94253	GGT		0.507	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187	
GABRA6	2559	hgsc.bcm.edu	37	5	161128725	161128725	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:161128725C>T	ENST00000274545.5	+	9	1741	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y	GABRA6_ENST00000523217.1_Silent_p.Y426Y			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	436					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y436Y(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ACCTTGTGTACTGGGTAGTTT	0.443										TCGA Ovarian(5;0.080)																											p.Y436Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1308T	5						.						112.0	102.0	105.0					5																	161128725		2203	4300	6503	161061303	SO:0001819	synonymous_variant	2559	exon9				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1308C>T	5.37:g.161128725C>T		Somatic		Capture	SOLID	Phase_I	161061303	NM_000811	A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	CCDS4356.1																																																																																				0.443	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
DOCK2	1794	hgsc.bcm.edu	37	5	169477386	169477386	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:169477386A>C	ENST00000256935.8	+	41	4278	c.4198A>C	c.(4198-4200)Aat>Cat	p.N1400H	DOCK2_ENST00000520908.1_Missense_Mutation_p.N892H|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.N461H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1400	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.N1400H(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGATGTGAAGAATGCCCCAGG	0.562																																					p.N1400H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4198C	5						.						110.0	102.0	105.0					5																	169477386		2203	4300	6503	169409964	SO:0001583	missense	1794	exon41			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4198A>C	5.37:g.169477386A>C	ENSP00000256935:p.Asn1400His	Somatic		Capture	SOLID	Phase_I	169409964	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.356917	0.41801	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09630	3.59;3.23;2.96	5.51	4.36	0.52297	.	0.105249	0.64402	D	0.000008	T	0.19046	0.0457	M	0.83953	2.67	0.36009	D	0.837918	D;B	0.53151	0.958;0.161	P;B	0.46850	0.529;0.025	T	0.19712	-1.0297	10	0.51188	T	0.08	.	7.0052	0.24831	0.7957:0.0:0.0719:0.1324	.	892;1400	E7ERW7;Q92608	.;DOCK2_HUMAN	H	1400;892;461	ENSP00000256935:N1400H;ENSP00000429283:N892H;ENSP00000438827:N461H	ENSP00000256935:N1400H	N	+	1	0	DOCK2	169409964	1.000000	0.71417	0.932000	0.37286	0.235000	0.25334	4.299000	0.59073	0.941000	0.37499	0.533000	0.62120	AAT		0.562	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
FOXI1	2299	hgsc.bcm.edu	37	5	169535475	169535475	+	Missense_Mutation	SNP	G	G	A	rs145046338		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:169535475G>A	ENST00000306268.6	+	2	1058	c.997G>A	c.(997-999)Ggt>Agt	p.G333S	FOXI1_ENST00000449804.2_Missense_Mutation_p.G238S			Q12951	FOXI1_HUMAN	forkhead box I1	333					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G333S(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAACCACAGCGGTGGGGGTGA	0.582									Pendred syndrome																												p.G238S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G712A	5						.	G	SER/GLY,SER/GLY	4,4402	6.2+/-15.9	0,4,2199	109.0	83.0	92.0		997,712	2.7	0.0	5	dbSNP_134	92	0,8600		0,0,4300	yes	missense,missense	FOXI1	NM_012188.4,NM_144769.2	56,56	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign	333/379,238/284	169535475	4,13002	2203	4300	6503	169468053	SO:0001583	missense	2299	exon2	Familial Cancer Database	Goiter-Deafness syndrome	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.997G>A	5.37:g.169535475G>A	ENSP00000304286:p.Gly333Ser	Somatic		Capture	SOLID	Phase_I	169468053	NM_144769	Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350494	0.24512	9.08E-4	0.0	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94330	-3.22;-3.4	5.28	2.65	0.31530	.	1.051440	0.07455	N	0.899667	D	0.88847	0.6548	L	0.52573	1.65	0.09310	N	1	B;B	0.22346	0.068;0.041	B;B	0.12837	0.008;0.003	T	0.73849	-0.3853	10	0.12430	T	0.62	.	6.0493	0.19777	0.2165:0.143:0.6404:0.0	.	238;333	Q12951-2;Q12951	.;FOXI1_HUMAN	S	333;238	ENSP00000304286:G333S;ENSP00000415483:G238S	ENSP00000304286:G333S	G	+	1	0	FOXI1	169468053	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.400000	0.20932	0.761000	0.33130	0.655000	0.94253	GGT		0.582	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188	
DUSP1	1843	hgsc.bcm.edu	37	5	172195821	172195821	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:172195821T>A	ENST00000239223.3	-	4	1290	c.1048A>T	c.(1048-1050)Acg>Tcg	p.T350S	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	350	Tyrosine-protein phosphatase.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GCACTGTTCGTGGAGTGGACA	0.622																																					p.T350S												.	.	0			c.A1048T	5						.						105.0	100.0	101.0					5																	172195821		2203	4300	6503	172128427	SO:0001583	missense	1843	exon4			X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.1048A>T	5.37:g.172195821T>A	ENSP00000239223:p.Thr350Ser	Somatic		Capture	SOLID	Phase_I	172128427	NM_004417	D3DQL9|Q2V508	Missense_Mutation	SNP	ENST00000239223.3	37	CCDS4380.1	.	.	.	.	.	.	.	.	.	.	T	8.865	0.947798	0.18356	.	.	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.02140	4.43	5.1	-1.52	0.08637	.	0.275715	0.37095	N	0.002247	T	0.00967	0.0032	N	0.04508	-0.205	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.08055	0.001;0.003	T	0.48692	-0.9013	10	0.19590	T	0.45	.	5.7419	0.18098	0.1864:0.3968:0.0:0.4169	.	350;307	P28562;B4DNT2	DUS1_HUMAN;.	S	350;323;285	ENSP00000239223:T350S	ENSP00000239223:T350S	T	-	1	0	DUSP1	172128427	0.024000	0.19004	0.917000	0.36280	0.994000	0.84299	0.296000	0.19083	0.063000	0.16370	0.533000	0.62120	ACG		0.622	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252943.3	NM_004417	
ADAMTS2	9509	hgsc.bcm.edu	37	5	178554983	178554983	+	Missense_Mutation	SNP	G	G	A	rs372549560		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:178554983G>A	ENST00000251582.7	-	17	2695	c.2594C>T	c.(2593-2595)cCg>cTg	p.P865L		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	865	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P865L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTGGAGCACGGAGACCACTT	0.582																																					p.P865L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2594T	5						.						168.0	143.0	151.0					5																	178554983		2203	4300	6503	178487589	SO:0001583	missense	9509	exon17			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2594C>T	5.37:g.178554983G>A	ENSP00000251582:p.Pro865Leu	Somatic		Capture	SOLID	Phase_I	178487589	NM_014244		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553361	0.27739	.	.	ENSG00000087116	ENST00000251582	T	0.58797	0.31	4.55	2.38	0.29361	.	0.401588	0.21289	N	0.077016	T	0.46171	0.1379	L	0.49513	1.565	0.30964	N	0.723362	B	0.10296	0.003	B	0.08055	0.003	T	0.50259	-0.8849	10	0.59425	D	0.04	.	5.4351	0.16476	0.1084:0.0:0.5039:0.3877	.	865	O95450	ATS2_HUMAN	L	865	ENSP00000251582:P865L	ENSP00000251582:P865L	P	-	2	0	ADAMTS2	178487589	0.995000	0.38212	0.384000	0.26145	0.960000	0.62799	2.333000	0.43912	1.029000	0.39812	0.462000	0.41574	CCG		0.582	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
MAML1	9794	hgsc.bcm.edu	37	5	179193623	179193623	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:179193623G>A	ENST00000292599.3	+	2	1875	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.A538T(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCAAGCCAGCCCTGATGGC	0.537																																					p.A538T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1612A	5						.						63.0	64.0	63.0					5																	179193623		2203	4300	6503	179126229	SO:0001583	missense	9794	exon2			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1612G>A	5.37:g.179193623G>A	ENSP00000292599:p.Ala538Thr	Somatic		Capture	SOLID	Phase_I	179126229	NM_014757		Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	8.078	0.771690	0.16051	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.24151	1.87	5.15	-0.0148	0.13979	.	0.691515	0.14162	N	0.337330	T	0.13841	0.0335	N	0.20401	0.57	0.21355	N	0.999719	B;B	0.25809	0.135;0.011	B;B	0.24848	0.056;0.01	T	0.30679	-0.9970	10	0.22109	T	0.4	-3.0631	8.5061	0.33188	0.3182:0.1456:0.5361:0.0	.	575;538	Q59GH4;Q92585	.;MAML1_HUMAN	T	538;575	ENSP00000292599:A538T	ENSP00000292599:A538T	A	+	1	0	MAML1	179126229	0.000000	0.05858	0.023000	0.16930	0.310000	0.27922	0.210000	0.17455	-0.028000	0.13850	-0.251000	0.11542	GCC		0.537	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757	
BRD9	65980	hgsc.bcm.edu	37	5	876273	876273	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:876273G>A	ENST00000467963.1	-	12	1492	c.1326C>T	c.(1324-1326)gaC>gaT	p.D442D	BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000323510.4_Silent_p.D346D|BRD9_ENST00000388890.4_Silent_p.D326D|BRD9_ENST00000483173.1_Silent_p.D389D|BRD9_ENST00000494422.1_5'Flank	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	442					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.D346D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GGTCCAGGAGGTCGTCCACCA	0.627																																					p.D442D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1326T	5						.						115.0	92.0	99.0					5																	876273		2203	4300	6503	929273	SO:0001819	synonymous_variant	65980	exon12			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1326C>T	5.37:g.876273G>A		Somatic		Capture	SOLID	Phase_I	929273	NM_023924	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	CCDS34127.2																																																																																				0.627	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924	
NSUN2	54888	hgsc.bcm.edu	37	5	6600064	6600064	+	Missense_Mutation	SNP	G	G	A	rs61744358	byFrequency	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:6600064G>A	ENST00000264670.6	-	19	2590	c.2279C>T	c.(2278-2280)cCg>cTg	p.P760L	NSUN2_ENST00000506139.1_Missense_Mutation_p.P725L|NSUN2_ENST00000539938.1_Missense_Mutation_p.P524L	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	760					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.P760L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GACCCCCGCCGGGTCACAGCC	0.627																																					p.P760L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2279T	5						.						133.0	120.0	124.0					5																	6600064		2203	4300	6503	6653064	SO:0001583	missense	54888	exon19			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.2279C>T	5.37:g.6600064G>A	ENSP00000264670:p.Pro760Leu	Somatic		Capture	SOLID	Phase_I	6653064	NM_017755	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	G	8.623	0.891797	0.17613	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.54279	1.32;0.58;1.32	4.44	1.59	0.23543	.	1.998300	0.01889	N	0.038397	T	0.39627	0.1085	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.13308	-1.0514	10	0.32370	T	0.25	-3.3591	4.279	0.10824	0.2004:0.0:0.6189:0.1806	.	725;760;760	B4DQW2;Q08J23;A8K529	.;NSUN2_HUMAN;.	L	760;524;725	ENSP00000264670:P760L;ENSP00000444338:P524L;ENSP00000420957:P725L	ENSP00000264670:P760L	P	-	2	0	NSUN2	6653064	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.602000	0.24134	0.191000	0.20236	-0.216000	0.12614	CCG		0.627	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755	
ADCY2	108	hgsc.bcm.edu	37	5	7626425	7626425	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:7626425A>G	ENST00000338316.4	+	4	805	c.716A>G	c.(715-717)cAa>cGa	p.Q239R		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	239					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.Q239R(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAAAAACGTCAACAGGTAATG	0.378																																					p.Q239R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A716G	5						.						104.0	96.0	99.0					5																	7626425		2203	4300	6503	7679425	SO:0001583	missense	108	exon4			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.716A>G	5.37:g.7626425A>G	ENSP00000342952:p.Gln239Arg	Somatic		Capture	SOLID	Phase_I	7679425	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471915	0.63737	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681	T	0.77877	-1.13	5.09	5.09	0.68999	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.133674	0.52532	D	0.000071	T	0.70176	0.3194	L	0.42529	1.33	0.80722	D	1	P	0.36753	0.568	B	0.35770	0.21	T	0.71034	-0.4709	10	0.40728	T	0.16	.	12.9201	0.58226	1.0:0.0:0.0:0.0	.	239	Q08462	ADCY2_HUMAN	R	239;90;28	ENSP00000342952:Q239R	ENSP00000342952:Q239R	Q	+	2	0	ADCY2	7679425	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.530000	0.90606	2.039000	0.60335	0.533000	0.62120	CAA		0.378	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
PDZD2	23037	hgsc.bcm.edu	37	5	32087578	32087578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:32087578G>T	ENST00000438447.1	+	20	4412	c.4024G>T	c.(4024-4026)Gga>Tga	p.G1342*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.G1342*			O15018	PDZD2_HUMAN	PDZ domain containing 2	1342					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G1342*(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGTCCTGCCAGGAGACCCCCT	0.597																																					p.G1342X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4024T	5						.						43.0	45.0	45.0					5																	32087578		2203	4300	6503	32123335	SO:0001587	stop_gained	23037	exon19			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4024G>T	5.37:g.32087578G>T	ENSP00000402033:p.Gly1342*	Somatic		Capture	SOLID	Phase_I	32123335	NM_178140	Q9BXD4	Nonsense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	43	9.973764	0.99308	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	.	.	.	4.58	2.77	0.32553	.	2.547400	0.01740	N	0.029345	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	11.2723	0.49147	0.0:0.6349:0.3651:0.0	.	.	.	.	X	1342;1143;1342	.	ENSP00000282493:G1342X	G	+	1	0	PDZD2	32123335	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.292000	0.19011	0.642000	0.30620	-0.982000	0.02568	GGA		0.597	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
ZFR	51663	hgsc.bcm.edu	37	5	32390543	32390543	+	Splice_Site	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:32390543T>C	ENST00000265069.8	-	12	2082	c.1980A>G	c.(1978-1980)agA>agG	p.R660R		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	660					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R660R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTTCATAACGTCTGAAACATA	0.413																																					p.R660R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1980G	5						.						100.0	101.0	101.0					5																	32390543		2203	4300	6503	32426300	SO:0001630	splice_region_variant	51663	exon12			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1980-1A>G	5.37:g.32390543T>C		Somatic		Capture	SOLID	Phase_I	32426300	NM_016107	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	CCDS34139.1																																																																																				0.413	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		Silent
ADAMTS12	81792	hgsc.bcm.edu	37	5	33577087	33577087	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:33577087T>G	ENST00000504830.1	-	19	3379	c.3044A>C	c.(3043-3045)aAc>aCc	p.N1015T	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N930T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1015	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N1015T(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTTGGTGGGTTTTTTCCATT	0.532										HNSCC(64;0.19)																											p.N1015T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3044C	5						.						152.0	146.0	148.0					5																	33577087		2203	4300	6503	33612844	SO:0001583	missense	81792	exon19			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3044A>C	5.37:g.33577087T>G	ENSP00000422554:p.Asn1015Thr	Somatic		Capture	SOLID	Phase_I	33612844	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	0.257	-1.002274	0.02128	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.57907	0.38;0.37	5.3	2.9	0.33743	.	0.788097	0.12374	N	0.474536	T	0.30978	0.0782	N	0.14661	0.345	0.09310	N	0.999993	B;B	0.12630	0.006;0.0	B;B	0.15052	0.012;0.0	T	0.19451	-1.0305	10	0.13853	T	0.58	.	7.935	0.29925	0.0:0.0778:0.1471:0.7751	.	930;1015	P58397-3;P58397	.;ATS12_HUMAN	T	1015;930	ENSP00000422554:N1015T;ENSP00000344847:N930T	ENSP00000344847:N930T	N	-	2	0	ADAMTS12	33612844	0.230000	0.23740	0.488000	0.27440	0.010000	0.07245	0.931000	0.28871	1.034000	0.39945	0.533000	0.62120	AAC		0.532	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
SLC45A2	51151	hgsc.bcm.edu	37	5	33984374	33984374	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:33984374G>A	ENST00000296589.4	-	1	461	c.315C>T	c.(313-315)taC>taT	p.Y105Y	SLC45A2_ENST00000382102.3_Silent_p.Y105Y|SLC45A2_ENST00000345083.5_Silent_p.Y105Y|SLC45A2_ENST00000509381.1_Silent_p.Y105Y|SLC45A2_ENST00000342059.3_Silent_p.Y105Y	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	105					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.Y105Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GGGTGAGGATGTAGGGTCTCC	0.627																																					p.Y105Y	Ovarian(31;380 859 8490 22203 49048)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315T	5						.						67.0	63.0	64.0					5																	33984374		2203	4300	6503	34020131	SO:0001819	synonymous_variant	51151	exon1			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.315C>T	5.37:g.33984374G>A		Somatic		Capture	SOLID	Phase_I	34020131	NM_001012509	Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	CCDS3901.1																																																																																				0.627	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180	
RAI14	26064	hgsc.bcm.edu	37	5	34757701	34757701	+	Silent	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:34757701C>T	ENST00000265109.3	+	3	452	c.165C>T	c.(163-165)acC>acT	p.T55T	RAI14_ENST00000428746.2_Silent_p.T55T|RAI14_ENST00000503673.1_Silent_p.T55T|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Silent_p.T47T|RAI14_ENST00000515799.1_Silent_p.T58T|RAI14_ENST00000512629.1_Silent_p.T55T|RAI14_ENST00000397449.1_Silent_p.T48T	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	55						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.T55T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGGGCAAGACCGCGTAAGCTG	0.552																																					p.T55T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C165T	5						.						61.0	57.0	58.0					5																	34757701		2203	4300	6503	34793458	SO:0001819	synonymous_variant	26064	exon3			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.165C>T	5.37:g.34757701C>T		Somatic		Capture	SOLID	Phase_I	34793458	NM_001145522	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																				0.552	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
SLC1A3	6507	hgsc.bcm.edu	37	5	36686237	36686237	+	Nonsense_Mutation	SNP	C	C	T	rs371888623		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:36686237C>T	ENST00000265113.4	+	10	1971	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Nonsense_Mutation_p.R454*	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	499					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R499*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCACTTGTCACGACATGAACT	0.498																																					p.R454X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1360T	5						.	C	stop/ARG,stop/ARG	0,4406		0,0,2203	134.0	133.0	133.0		1360,1495	2.8	0.8	5		133	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	SLC1A3	NM_001166695.1,NM_004172.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	454/498,499/543	36686237	1,13005	2203	4300	6503	36721994	SO:0001587	stop_gained	6507	exon8				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1495C>T	5.37:g.36686237C>T	ENSP00000265113:p.Arg499*	Somatic		Capture	SOLID	Phase_I	36721994	NM_001166695	B2R5T3|Q4JCQ8	Nonsense_Mutation	SNP	ENST00000265113.4	37	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	C	40	8.427534	0.98806	0.0	1.16E-4	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	.	.	.	5.62	2.78	0.32641	.	0.061366	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-3.6479	14.3401	0.66619	0.5147:0.4853:0.0:0.0	.	.	.	.	X	499;447;454	.	ENSP00000265113:R499X	R	+	1	2	SLC1A3	36721994	0.866000	0.29940	0.793000	0.32043	0.792000	0.44763	1.603000	0.36794	0.273000	0.22049	0.655000	0.94253	CGA		0.498	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172	
LIFR	3977	hgsc.bcm.edu	37	5	38481962	38481962	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:38481962T>A	ENST00000263409.4	-	20	3191	c.3029A>T	c.(3028-3030)aAt>aTt	p.N1010I	LIFR_ENST00000453190.2_Missense_Mutation_p.N1010I	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1010					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.N1010I(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CACAGTAGAATTAATGGGGAG	0.448			T	PLAG1	salivary adenoma																																p.N1010I	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3029T	5						.						97.0	98.0	98.0					5																	38481962		2203	4300	6503	38517719	SO:0001583	missense	3977	exon20			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.3029A>T	5.37:g.38481962T>A	ENSP00000263409:p.Asn1010Ile	Somatic		Capture	SOLID	Phase_I	38517719	NM_001127671	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	T	9.565	1.119430	0.20877	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.56611	0.45;0.45	5.72	1.2	0.21068	.	0.957742	0.08851	N	0.884418	T	0.47192	0.1432	L	0.54323	1.7	0.09310	N	1	B	0.26400	0.148	B	0.27500	0.08	T	0.44697	-0.9311	10	0.59425	D	0.04	-2.1493	7.5698	0.27900	0.0:0.3041:0.2081:0.4878	.	1010	P42702	LIFR_HUMAN	I	1010	ENSP00000263409:N1010I;ENSP00000398368:N1010I	ENSP00000263409:N1010I	N	-	2	0	LIFR	38517719	0.006000	0.16342	0.000000	0.03702	0.550000	0.35303	0.660000	0.25009	0.209000	0.20645	0.455000	0.32223	AAT		0.448	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
LIFR	3977	hgsc.bcm.edu	37	5	38523565	38523565	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:38523565C>T	ENST00000263409.4	-	5	679	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.E173K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	173					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.E173K(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACTTTAATTTCCCAGATAACA	0.338			T	PLAG1	salivary adenoma																																p.E173K	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G517A	5						.						88.0	96.0	93.0					5																	38523565		2203	4300	6503	38559322	SO:0001583	missense	3977	exon5			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.517G>A	5.37:g.38523565C>T	ENSP00000263409:p.Glu173Lys	Somatic		Capture	SOLID	Phase_I	38559322	NM_001127671	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227012	0.79576	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.31769	1.48;1.48	5.53	4.66	0.58398	Immunoglobulin-like fold (1);	0.333479	0.35124	N	0.003423	T	0.38134	0.1029	M	0.72894	2.215	0.46701	D	0.999161	D	0.53151	0.958	P	0.45712	0.491	T	0.38112	-0.9676	10	0.72032	D	0.01	-18.7317	11.9129	0.52749	0.0:0.7983:0.2017:0.0	.	173	P42702	LIFR_HUMAN	K	173	ENSP00000263409:E173K;ENSP00000398368:E173K	ENSP00000263409:E173K	E	-	1	0	LIFR	38559322	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	1.298000	0.33412	1.308000	0.44962	0.655000	0.94253	GAA		0.338	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
HSPB3	8988	hgsc.bcm.edu	37	5	53751724	53751724	+	Silent	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:53751724T>C	ENST00000302005.1	+	1	280	c.105T>C	c.(103-105)taT>taC	p.Y35Y		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	35					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y35Y(1)		breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				ATGCTTTATATGCACTGCCTG	0.532																																					p.Y35Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T105C	5						.						78.0	76.0	76.0					5																	53751724		2203	4300	6503	53787481	SO:0001819	synonymous_variant	8988	exon1			Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.105T>C	5.37:g.53751724T>C		Somatic		Capture	SOLID	Phase_I	53787481	NM_006308		Silent	SNP	ENST00000302005.1	37	CCDS3961.1																																																																																				0.532	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2		
GZMA	3001	hgsc.bcm.edu	37	5	54404022	54404022	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:54404022A>G	ENST00000274306.6	+	4	462	c.427A>G	c.(427-429)Aaa>Gaa	p.K143E		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	143	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.K143E(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GGACGATGTGAAACCAGGAAC	0.418																																					p.K143E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A427G	5						.						68.0	65.0	66.0					5																	54404022		2203	4300	6503	54439779	SO:0001583	missense	3001	exon4				CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.427A>G	5.37:g.54404022A>G	ENSP00000274306:p.Lys143Glu	Somatic		Capture	SOLID	Phase_I	54439779	NM_006144	A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	A	8.733	0.917082	0.17907	.	.	ENSG00000145649	ENST00000274306	D	0.88741	-2.42	5.93	0.875	0.19130	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.502646	0.23554	N	0.046937	T	0.81432	0.4821	L	0.33485	1.01	0.19575	N	0.999967	B	0.23735	0.09	B	0.27380	0.079	T	0.68040	-0.5514	10	0.36615	T	0.2	.	9.6517	0.39902	0.7363:0.0:0.2637:0.0	.	143	P12544	GRAA_HUMAN	E	143	ENSP00000274306:K143E	ENSP00000274306:K143E	K	+	1	0	GZMA	54439779	0.878000	0.30173	0.167000	0.22817	0.258000	0.26162	1.873000	0.39558	-0.067000	0.12976	0.533000	0.62120	AAA		0.418	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144	
SKIV2L2	23517	hgsc.bcm.edu	37	5	54639266	54639266	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:54639266T>C	ENST00000230640.5	+	8	1143	c.889T>C	c.(889-891)Tgc>Cgc	p.C297R	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.C196R	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	297	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.C297R(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGAATGGATTTGCCATTTACA	0.358																																					p.C297R	Melanoma(2;92 134 23744 29976 33782)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T889C	5						.						147.0	143.0	144.0					5																	54639266		2203	4299	6502	54675023	SO:0001583	missense	23517	exon8			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.889T>C	5.37:g.54639266T>C	ENSP00000230640:p.Cys297Arg	Somatic		Capture	SOLID	Phase_I	54675023	NM_015360	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090886	0.76756	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.41400	1.0;1.0	5.93	5.93	0.95920	DEAD-like helicase (2);	0.217340	0.48767	D	0.000161	T	0.43567	0.1253	L	0.31294	0.92	0.80722	D	1	P;P	0.44734	0.842;0.545	P;B	0.48400	0.576;0.342	T	0.42050	-0.9474	10	0.87932	D	0	-8.2081	16.052	0.80772	0.0:0.0:0.0:1.0	.	196;297	F5H7E2;P42285	.;SK2L2_HUMAN	R	297;196	ENSP00000230640:C297R;ENSP00000442583:C196R	ENSP00000230640:C297R	C	+	1	0	SKIV2L2	54675023	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.203000	0.72137	2.269000	0.75478	0.454000	0.30748	TGC		0.358	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		
ACTBL2	345651	hgsc.bcm.edu	37	5	56777942	56777942	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:56777942C>T	ENST00000423391.1	-	1	694	c.593G>A	c.(592-594)gGc>gAc	p.G198D	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	198						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.G198D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GAAGTTATAGCCTCGCTCTGT	0.532																																					p.G198D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G593A	5						.						103.0	83.0	90.0					5																	56777942		2203	4300	6503	56813699	SO:0001583	missense	345651	exon1				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.593G>A	5.37:g.56777942C>T	ENSP00000416706:p.Gly198Asp	Somatic		Capture	SOLID	Phase_I	56813699	NM_001017992	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981923	0.53827	.	.	ENSG00000169067	ENST00000423391	T	0.08984	3.03	4.77	4.77	0.60923	.	0.079086	0.49305	D	0.000160	T	0.38852	0.1056	H	0.95611	3.695	0.58432	D	0.999994	P	0.51057	0.941	P	0.62298	0.9	T	0.54899	-0.8224	10	0.87932	D	0	.	15.3116	0.74039	0.0:1.0:0.0:0.0	.	198	Q562R1	ACTBL_HUMAN	D	198	ENSP00000416706:G198D	ENSP00000416706:G198D	G	-	2	0	ACTBL2	56813699	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	7.585000	0.82584	2.452000	0.82932	0.655000	0.94253	GGC		0.532	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992	
MCCC2	64087	hgsc.bcm.edu	37	5	70898412	70898412	+	Missense_Mutation	SNP	C	C	T	rs141030969		TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:70898412C>T	ENST00000340941.6	+	5	592	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W	MCCC2_ENST00000509358.2_Missense_Mutation_p.R155W|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Missense_Mutation_p.R155W	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	155	Carboxyltransferase.		R -> Q (in MCC2D; mild form). {ECO:0000269|PubMed:11181649}.		biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.R155W(1)		endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AAAACAATTACGGGCCCAAGA	0.418																																					p.R155W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C463T	5	GRCh37	CM053312	MCCC2	M	rs141030969	.	C	TRP/ARG	0,4406		0,0,2203	90.0	88.0	88.0		463	4.8	0.8	5	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MCCC2	NM_022132.4	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	155/564	70898412	2,13004	2203	4300	6503	70934168	SO:0001583	missense	64087	exon5			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.463C>T	5.37:g.70898412C>T	ENSP00000343657:p.Arg155Trp	Somatic		Capture	SOLID	Phase_I	70934168	NM_022132	A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722362	0.89298	0.0	2.33E-4	ENSG00000131844	ENST00000340941;ENST00000509358;ENST00000323375	D;D;D	0.98862	-5.19;-5.19;-5.19	5.7	4.82	0.62117	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	H	0.99391	4.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97487	1.0051	10	0.87932	D	0	-15.2686	14.9757	0.71269	0.1441:0.8559:0.0:0.0	.	155;24;155	D6RDF7;B3KR24;Q9HCC0	.;.;MCCB_HUMAN	W	155	ENSP00000343657:R155W;ENSP00000420994:R155W;ENSP00000327308:R155W	ENSP00000327308:R155W	R	+	1	2	MCCC2	70934168	1.000000	0.71417	0.789000	0.31954	0.964000	0.63967	5.767000	0.68850	1.391000	0.46566	0.655000	0.94253	CGG		0.418	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4		
MAP1B	4131	hgsc.bcm.edu	37	5	71493504	71493504	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:71493504A>G	ENST00000296755.7	+	5	4620	c.4322A>G	c.(4321-4323)cAa>cGa	p.Q1441R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1441					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.Q1441R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTCCAGACCAAGTAAGTCCA	0.418																																					p.Q1441R	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4322G	5						.						46.0	47.0	47.0					5																	71493504		2202	4299	6501	71529260	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4322A>G	5.37:g.71493504A>G	ENSP00000296755:p.Gln1441Arg	Somatic		Capture	SOLID	Phase_I	71529260	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	5.557	0.287610	0.10513	.	.	ENSG00000131711	ENST00000296755	T	0.03124	4.04	5.54	3.08	0.35506	.	0.384943	0.25256	N	0.031988	T	0.02083	0.0065	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.49153	-0.8969	10	0.10902	T	0.67	-1.8556	8.457	0.32906	0.7862:0.0:0.2138:0.0	.	1315;1441	A2BDK6;P46821	.;MAP1B_HUMAN	R	1441	ENSP00000296755:Q1441R	ENSP00000296755:Q1441R	Q	+	2	0	MAP1B	71529260	0.006000	0.16342	0.712000	0.30502	0.401000	0.30781	1.169000	0.31871	0.375000	0.24679	0.454000	0.30748	CAA		0.418	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
ZNF366	167465	hgsc.bcm.edu	37	5	71757002	71757002	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:71757002C>T	ENST00000318442.5	-	2	812	c.322G>A	c.(322-324)Ggc>Agc	p.G108S		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	108					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.G108S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTGGGAAGGCCGTGGTTTTTG	0.567																																					p.G108S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G322A	5						.						212.0	232.0	226.0					5																	71757002		2203	4300	6503	71792758	SO:0001583	missense	167465	exon2			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.322G>A	5.37:g.71757002C>T	ENSP00000313158:p.Gly108Ser	Somatic		Capture	SOLID	Phase_I	71792758	NM_152625	Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624923	0.28889	.	.	ENSG00000178175	ENST00000318442	T	0.51325	0.71	5.92	3.03	0.35002	.	0.288637	0.30109	N	0.010383	T	0.29620	0.0739	L	0.27053	0.805	0.09310	N	1	B	0.23735	0.09	B	0.12837	0.008	T	0.14309	-1.0477	10	0.42905	T	0.14	-20.318	6.1326	0.20213	0.1293:0.5535:0.2501:0.0672	.	108	Q8N895	ZN366_HUMAN	S	108	ENSP00000313158:G108S	ENSP00000313158:G108S	G	-	1	0	ZNF366	71792758	0.001000	0.12720	0.022000	0.16811	0.451000	0.32288	0.334000	0.19787	0.837000	0.34925	0.561000	0.74099	GGC		0.567	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3		
NR2F1	7025	hgsc.bcm.edu	37	5	92920997	92920997	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:92920997G>A	ENST00000327111.3	+	1	1955	c.268G>A	c.(268-270)Ggg>Agg	p.G90R	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	90					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.G90R(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CGTGGTGTGCGGGGACAAGTC	0.667																																					p.G90R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G268A	5						.						27.0	24.0	25.0					5																	92920997		2202	4300	6502	92946753	SO:0001583	missense	7025	exon1			BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.268G>A	5.37:g.92920997G>A	ENSP00000325819:p.Gly90Arg	Somatic		Capture	SOLID	Phase_I	92946753	NM_005654		Missense_Mutation	SNP	ENST00000327111.3	37	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947596	0.92593	.	.	ENSG00000175745	ENST00000327111	D	0.96940	-4.18	3.16	3.16	0.36331	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98068	0.9363	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.98928	1.0786	10	0.87932	D	0	.	14.3795	0.66902	0.0:0.0:1.0:0.0	.	90	P10589	COT1_HUMAN	R	90	ENSP00000325819:G90R	ENSP00000325819:G90R	G	+	1	0	NR2F1	92946753	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.219000	0.95173	1.764000	0.52075	0.305000	0.20034	GGG		0.667	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654	
LNPEP	4012	hgsc.bcm.edu	37	5	96362410	96362410	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:96362410A>G	ENST00000231368.5	+	16	3505	c.2813A>G	c.(2812-2814)cAc>cGc	p.H938R	LNPEP_ENST00000395770.3_Missense_Mutation_p.H924R	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	938					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H938R(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTTCCTGGACACTTACTGGCA	0.373																																					p.H938R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2813G	5						.						122.0	119.0	120.0					5																	96362410		2203	4300	6503	96388166	SO:0001583	missense	4012	exon16			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2813A>G	5.37:g.96362410A>G	ENSP00000231368:p.His938Arg	Somatic		Capture	SOLID	Phase_I	96388166	NM_005575	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.722028	0.68959	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.03717	3.83;3.83	6.03	6.03	0.97812	.	0.101272	0.64402	D	0.000001	T	0.03871	0.0109	L	0.34521	1.04	0.47698	D	0.99949	B	0.06786	0.001	B	0.08055	0.003	T	0.37911	-0.9685	10	0.07482	T	0.82	.	16.2196	0.82251	1.0:0.0:0.0:0.0	.	938	Q9UIQ6	LCAP_HUMAN	R	938;924	ENSP00000231368:H938R;ENSP00000379117:H924R	ENSP00000231368:H938R	H	+	2	0	LNPEP	96388166	0.975000	0.34042	0.974000	0.42286	0.905000	0.53344	5.251000	0.65438	2.308000	0.77769	0.533000	0.62120	CAC		0.373	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575	
CNOT6	57472	hgsc.bcm.edu	37	5	180001100	180001100	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr5:180001100C>T	ENST00000393356.1	+	14	1998	c.1574C>T	c.(1573-1575)cCc>cTc	p.P525L	CNOT6_ENST00000261951.4_Missense_Mutation_p.P525L			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	525	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TGCCCGCACCCCCTCATCCCC	0.537																																					p.P525L												.	.	0			c.C1574T	5						.						134.0	131.0	132.0					5																	180001100		2203	4300	6503	179933706	SO:0001583	missense	57472	exon12			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1574C>T	5.37:g.180001100C>T	ENSP00000377024:p.Pro525Leu	Somatic		Capture	SOLID	Phase_I	179933706	NM_015455	A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883583	0.72410	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.79845	-1.31;-1.31	5.72	4.85	0.62838	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.88851	0.6549	M	0.82056	2.57	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	D	0.89507	0.3768	9	.	.	.	-8.7464	14.4628	0.67462	0.0:0.9296:0.0:0.0704	.	525	Q9ULM6	CNOT6_HUMAN	L	525	ENSP00000261951:P525L;ENSP00000377024:P525L	.	P	+	2	0	CNOT6	179933706	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.818000	0.86416	1.416000	0.47057	0.460000	0.39030	CCC		0.537	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455	
C4orf50	389197	hgsc.bcm.edu	37	4	5961138	5961138	+	Silent	SNP	G	G	A			TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00J-01A-02W-A005-10	TCGA-AA-A00J-10A-01W-A005-10	g.chr4:5961138G>A	ENST00000324058.5	-	7	884	c.795C>T	c.(793-795)tcC>tcT	p.S265S	C4orf50_ENST00000531445.1_Silent_p.S739S			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	265								p.S265S(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TATGGACCTGGGAATTGCTGC	0.483																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	4						.						118.0	115.0	116.0					4																	5961138		2203	4300	6503	6012039	SO:0001819	synonymous_variant	389197	.			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.795C>T	4.37:g.5961138G>A		Somatic		Capture	SOLID	Phase_I	6012039	.		Silent	SNP	ENST00000324058.5	37																																																																																					0.483	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405	
