#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
PCOLCE	5118	hgsc.bcm.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1170)tgccccfs	p.CP389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.51																																					p.C389fs												.	.	2	Insertion - Frameshift(2)	ovary(1)|large_intestine(1)	c.1166_1167insC	7						.																																			100043350	SO:0001589	frameshift_variant	5118	exon8			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1173dupC	7.37:g.100205420_100205420dupC	ENSP00000223061:p.Cys389fs	Somatic		Capture	SOLID	Phase_I	100043349	NM_002593	B2R9E1|O14550	Frame_Shift_Ins	INS	ENST00000223061.5	37	CCDS5700.1																																																																																				0.510	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593	
MYT1	4661	hgsc.bcm.edu	37	20	62842682	62842683	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:62842682_62842683insC	ENST00000328439.1	+	8	1779_1780	c.1415_1416insC	c.(1414-1419)atccccfs	p.IP472fs	MYT1_ENST00000360149.4_Frame_Shift_Ins_p.IP174fs|MYT1_ENST00000536311.1_Frame_Shift_Ins_p.IP472fs	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Interaction with CDC2-CCNB1.|Interaction with PIN1.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I472I(1)|p.E475fs*7(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGGATAGGATCCCCCCAGAGA	0.589																																					p.I472fs	GBM(59;481 1041 20555 21139 33705)											.	.	2	Substitution - coding silent(1)|Insertion - Frameshift(1)	large_intestine(1)|lung(1)	c.1415_1416insC	20						.																																			62313127	SO:0001589	frameshift_variant	4661	exon8			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1421dupC	20.37:g.62842688_62842688dupC	ENSP00000327465:p.Ile472fs	Somatic		Capture	SOLID	Phase_I	62313126	NM_004535	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Frame_Shift_Ins	INS	ENST00000328439.1	37	CCDS13558.1																																																																																				0.589	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535	
PI4KA	5297	hgsc.bcm.edu	37	22	21192923	21192924	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr22:21192923_21192924insA	ENST00000572273.1	-	2	308_309	c.78_79insT	c.(76-81)tttctgfs	p.L27fs	PI4KA_ENST00000255882.6_Frame_Shift_Ins_p.L85fs			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	27					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.L27fs*3(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)			GATTCAATCAGAAAAATGCCCA	0.381																																					p.L27fs	GBM(136;1332 1831 3115 23601 50806)											.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.79_80insT	22						.																																			19522924	SO:0001589	frameshift_variant	5297	exon2			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.79dupT	22.37:g.21192928_21192928dupA	ENSP00000458238:p.Leu27fs	Somatic		Capture	SOLID	Phase_I	19522923	NM_058004	Q7Z625|Q9UPG2	Frame_Shift_Ins	INS	ENST00000572273.1	37																																																																																					0.381	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
TCF20	6942	hgsc.bcm.edu	37	22	42606574	42606575	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr22:42606574_42606575insT	ENST00000359486.3	-	1	4873_4874	c.4737_4738insA	c.(4735-4740)aaacagfs	p.Q1580fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.Q1580fs|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1580					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.Q1580fs*32(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						CTTTGCCTCTGTTTTTTTGGCT	0.535																																					p.Q1580fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.4738_4739insA	22						.																																			40936519	SO:0001589	frameshift_variant	6942	exon1			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.4738dupA	22.37:g.42606581_42606581dupT	ENSP00000352463:p.Gln1580fs	Somatic		Capture	SOLID	Phase_I	40936518	NM_181492	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Ins	INS	ENST00000359486.3	37	CCDS14033.1																																																																																				0.535	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
MTA1	9112	hgsc.bcm.edu	37	14	105911771	105911772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:105911771_105911772insG	ENST00000331320.7	+	3	327_328	c.113_114insG	c.(112-117)gtggagfs	p.E39fs	MTA1_ENST00000405646.1_Frame_Shift_Ins_p.E39fs|MTA1_ENST00000406191.1_Frame_Shift_Ins_p.E39fs	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	39	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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.E39fs*32(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AATGGGAACGTGGAGGCCAAAG	0.653																																					p.V38fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.113_114insG	14						.																																			104982817	SO:0001589	frameshift_variant	9112	exon3			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.115dupG	14.37:g.105911773_105911773dupG	ENSP00000333633:p.Glu39fs	Somatic		Capture	SOLID	Phase_I	104982816	NM_004689	A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Frame_Shift_Ins	INS	ENST00000331320.7	37	CCDS32169.1																																																																																				0.653	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15		
MIS18BP1	55320	hgsc.bcm.edu	37	14	45696021	45696022	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:45696021_45696022insT	ENST00000310806.4	-	10	2222_2223	c.1764_1765insA	c.(1762-1767)aaagaafs	p.E589fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	589					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E589fs*3(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATTTTATATTCTTTTTTTCCAA	0.252																																					p.E589fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1765_1766insA	14						.																																			44765772	SO:0001589	frameshift_variant	55320	exon10			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1765dupA	14.37:g.45696028_45696028dupT	ENSP00000309790:p.Glu589fs	Somatic		Capture	SOLID	Phase_I	44765771	NM_018353	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Ins	INS	ENST00000310806.4	37	CCDS9684.1																																																																																				0.252	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		
NRBP2	340371	hgsc.bcm.edu	37	8	144920910	144920911	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:144920910_144920911insG	ENST00000442628.2	-	10	920_921	c.781_782insC	c.(781-783)cggfs	p.R261fs	NRBP2_ENST00000327830.5_Frame_Shift_Ins_p.R18fs	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2									p.R267fs*16(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTCTGTGACCCGGGTGTCCCCA	0.649																																					p.R261fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.782_783insC	8						.																																			144992899	SO:0001589	frameshift_variant	340371	exon10			BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.782dupC	8.37:g.144920913_144920913dupG	ENSP00000414055:p.Arg261fs	Somatic		Capture	SOLID	Phase_I	144992898	NM_178564		Frame_Shift_Ins	INS	ENST00000442628.2	37	CCDS34959.2																																																																																				0.649	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382247.1	NM_178564	
FZD3	7976	hgsc.bcm.edu	37	8	28384936	28384937	+	Frame_Shift_Ins	INS	-	-	T	rs138898671		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:28384936_28384937insT	ENST00000240093.3	+	5	1137_1138	c.659_660insT	c.(658-663)acttttfs	p.TF220fs	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Frame_Shift_Ins_p.TF220fs	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	220					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.L222fs*6(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)		ACATTGTTTACTTTTTTAACTT	0.351																																					p.T220fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.659_660insT	8						.																																			28440856	SO:0001589	frameshift_variant	7976	exon5			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.665dupT	8.37:g.28384942_28384942dupT	ENSP00000240093:p.Thr220fs	Somatic		Capture	SOLID	Phase_I	28440855	NM_017412	A8K615	Frame_Shift_Ins	INS	ENST00000240093.3	37	CCDS6069.1																																																																																				0.351	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
NPHS1	4868	hgsc.bcm.edu	37	19	36321785	36321786	+	Frame_Shift_Ins	INS	-	-	G	rs555255264		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:36321785_36321786insG	ENST00000378910.5	-	28	3553_3554	c.3554_3555insC	c.(3553-3555)ccgfs	p.P1185fs	NPHS1_ENST00000353632.6_Frame_Shift_Ins_p.P1145fs	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1185	Binds to NPHS2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.S1186fs*10(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGCTCCAGACGGGGGGTACGT	0.54																																					p.P1185fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.3555_3556insC	19						.																																			41013626	SO:0001589	frameshift_variant	4868	exon28				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3555dupC	19.37:g.36321791_36321791dupG	ENSP00000368190:p.Pro1185fs	Somatic		Capture	SOLID	Phase_I	41013625	NM_004646	A6NDH2|C3RX61	Frame_Shift_Ins	INS	ENST00000378910.5	37	CCDS32996.1																																																																																				0.540	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
NPR1	4881	hgsc.bcm.edu	37	1	153659174	153659175	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:153659174_153659175insC	ENST00000368680.3	+	11	2283_2284	c.1811_1812insC	c.(1810-1815)gaccccfs	p.DP604fs		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	604	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.N607fs*21(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)	GCCTGCACCGACCCCCCCAATA	0.589																																					p.D604fs	Pancreas(141;1349 1870 15144 15830 40702)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1811_1812insC	1						.																																			151925799	SO:0001589	frameshift_variant	4881	exon11			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.1818dupC	1.37:g.153659181_153659181dupC	ENSP00000357669:p.Asp604fs	Somatic		Capture	SOLID	Phase_I	151925798	NM_000906	B0ZBF0|Q5SR08|Q6P4Q3	Frame_Shift_Ins	INS	ENST00000368680.3	37	CCDS1051.1																																																																																				0.589	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906	
SHC1	6464	hgsc.bcm.edu	37	1	154942910	154942911	+	Frame_Shift_Ins	INS	-	-	G	rs115641580	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:154942910_154942911insG	ENST00000368445.5	-	1	306_307	c.92_93insC	c.(91-93)ccgfs	p.P31fs	SHC1_ENST00000368453.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000448116.2_Frame_Shift_Ins_p.P31fs|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368449.4_Intron	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	31					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|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)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.E32fs*23(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGCTCCTCCGGGGGGGTGGA	0.619																																					p.P31fs	NSCLC(4;32 234 1864 2492 3259 13747 17376)											.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.93_94insC	1						.																																			153209535	SO:0001589	frameshift_variant	6464	exon1			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.93dupC	1.37:g.154942917_154942917dupG	ENSP00000357430:p.Pro31fs	Somatic		Capture	SOLID	Phase_I	153209534	NM_001130040	B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Frame_Shift_Ins	INS	ENST00000368445.5	37	CCDS30881.1																																																																																				0.619	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001	
RCOR3	55758	hgsc.bcm.edu	37	1	211451506	211451507	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:211451506_211451507insA	ENST00000367005.4	+	5	531_532	c.390_391insA	c.(391-393)aaafs	p.K131fs	RCOR3_ENST00000367006.4_Frame_Shift_Ins_p.K189fs|RCOR3_ENST00000452621.2_Frame_Shift_Ins_p.K189fs|RCOR3_ENST00000419091.2_Frame_Shift_Ins_p.K189fs	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	131	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T133fs*4(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ACTATTCTTGGAAAAAAACTCG	0.337																																					p.W188fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.564_565insA	1						.																																			209518130	SO:0001589	frameshift_variant	55758	exon6			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.397dupA	1.37:g.211451513_211451513dupA	ENSP00000355972:p.Lys131fs	Somatic		Capture	SOLID	Phase_I	209518129	NM_001136224	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Frame_Shift_Ins	INS	ENST00000367005.4	37	CCDS31016.1																																																																																				0.337	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254	
CACHD1	57685	hgsc.bcm.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)accfs	p.T1233fs	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.T1182fs			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554																																					p.T1182fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.3544_3545insC	1						.																																			64929705	SO:0001589	frameshift_variant	57685	exon27			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3704dupC	1.37:g.65157123_65157123dupC	ENSP00000360113:p.Thr1233fs	Somatic		Capture	SOLID	Phase_I	64929704	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Frame_Shift_Ins	INS	ENST00000371073.2	37																																																																																					0.554	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
H6PD	9563	hgsc.bcm.edu	37	1	9305250	9305251	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:9305250_9305251insC	ENST00000377403.2	+	2	559_560	c.257_258insC	c.(256-261)tgccccfs	p.CP86fs	H6PD_ENST00000602477.1_Frame_Shift_Ins_p.CP97fs	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	86	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)	p.K88fs*63(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		TCCCTCTCCTGCCCCAAGGACA	0.604																																					p.C86fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.257_258insC	1						.																																			9227838	SO:0001589	frameshift_variant	9563	exon2			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.261dupC	1.37:g.9305254_9305254dupC	ENSP00000366620:p.Cys86fs	Somatic		Capture	SOLID	Phase_I	9227837	NM_004285	Q4TT33|Q66I35|Q68DT3	Frame_Shift_Ins	INS	ENST00000377403.2	37	CCDS101.1																																																																																				0.604	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285	
NOL7	51406	hgsc.bcm.edu	37	6	13620991	13620992	+	Frame_Shift_Ins	INS	-	-	A	rs544905440	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:13620991_13620992insA	ENST00000451315.2	+	8	738_739	c.706_707insA	c.(706-708)caafs	p.Q236fs	AL441883.1_ENST00000600057.1_Frame_Shift_Ins_p.W44fs|NOL7_ENST00000474485.1_3'UTR|RANBP9_ENST00000469916.1_5'Flank	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	236						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q239fs*7(1)|p.K238fs*16(1)		breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			TCTAGGAATCCAAAAAAAACAA	0.267													AGAAAAAA|AAAAAAAA|AAAAAAAAA|complex_insertion	3	0.000599042	0.0015	0.0	5008	,	,		15409	0.0		0.0	False		,,,				2504	0.001				p.Q236fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)	c.706_707insA	6						.			26,4238		0,26,2106						4.2	0.8			31	31,8199		0,31,4084	no	frameshift	NOL7	NM_016167.3		0,57,6190	A1A1,A1R,RR		0.3767,0.6098,0.4562				57,12437				13728971	SO:0001589	frameshift_variant	51406	exon8			AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"""chromosome 6 open reading frame 90"", ""polyglutamine binding protein 3"""	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.714dupA	6.37:g.13620999_13620999dupA	ENSP00000405674:p.Gln236fs	Somatic		Capture	SOLID	Phase_I	13728970	NM_016167	Q5T297|Q9Y3U7	Frame_Shift_Ins	INS	ENST00000451315.2	37	CCDS4528.1																																																																																				0.267	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039904.1	NM_016167	
SNX14	57231	hgsc.bcm.edu	37	6	86275079	86275080	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:86275079_86275080insA	ENST00000314673.3	-	6	695_696	c.519_520insT	c.(517-522)tttgcafs	p.A174fs	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Intron|SNX14_ENST00000513865.1_Frame_Shift_Ins_p.A174fs|SNX14_ENST00000369627.2_Frame_Shift_Ins_p.A174fs|RP11-321N4.5_ENST00000503906.1_3'UTR|SNX14_ENST00000505648.1_Frame_Shift_Ins_p.A122fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	174	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)	p.A174fs*34(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AAGACAGATGCAAAAAAACGTA	0.287																																					p.A174fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.520_521insT	6						.																																			86331799	SO:0001589	frameshift_variant	57231	exon6			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.520dupT	6.37:g.86275086_86275086dupA	ENSP00000313121:p.Ala174fs	Somatic		Capture	SOLID	Phase_I	86331798	NM_153816	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Frame_Shift_Ins	INS	ENST00000314673.3	37	CCDS5004.1																																																																																				0.287	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816	
CTSF	8722	hgsc.bcm.edu	37	11	66331577	66331578	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:66331577_66331578insC	ENST00000310325.5	-	12	1470_1471	c.1361_1362insG	c.(1360-1362)ggcfs	p.G454fs	ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank|ACTN3_ENST00000513398.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	454				SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9). {ECO:0000305}.	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.T455fs*2(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCCAGTCAGTGCCCCAGCTGTT	0.624																																					p.G454fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1362_1363insG	11						.																																			66088154	SO:0001589	frameshift_variant	8722	exon12			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.1362dupG	11.37:g.66331581_66331581dupC	ENSP00000310832:p.Gly454fs	Somatic		Capture	SOLID	Phase_I	66088153	NM_003793	B2R964|O95240|Q9NSU4|Q9UKQ5	Frame_Shift_Ins	INS	ENST00000310325.5	37	CCDS8144.1																																																																																				0.624	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	
NCOR1	9611	hgsc.bcm.edu	37	17	16056703	16056704	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:16056703_16056704insT	ENST00000268712.3	-	7	995_996	c.738_739insA	c.(736-741)aaagcafs	p.A247fs	NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.A247fs|NCOR1_ENST00000395848.1_Frame_Shift_Ins_p.A138fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	247	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.A247fs*6(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTTCTTCTGCTTTTTTCTAGA	0.243																																					p.A247fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.739_740insA	17						.																																			15997429	SO:0001589	frameshift_variant	9611	exon6			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.739dupA	17.37:g.16056709_16056709dupT	ENSP00000268712:p.Ala247fs	Somatic		Capture	SOLID	Phase_I	15997428	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Ins	INS	ENST00000268712.3	37	CCDS11175.1																																																																																				0.243	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
SPNS3	201305	hgsc.bcm.edu	37	17	4351589	4351590	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:4351589_4351590insG	ENST00000355530.2	+	6	1041_1042	c.761_762insG	c.(760-765)ctggggfs	p.LG254fs	SPNS3_ENST00000333476.2_Frame_Shift_Ins_p.LG127fs|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	254					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.K256fs*86(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GTCAGATACCTGGGGAAAAAGT	0.629																																					p.L254fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.761_762insG	17						.																																			4298339	SO:0001589	frameshift_variant	201305	exon6				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.765dupG	17.37:g.4351593_4351593dupG	ENSP00000347721:p.Leu254fs	Somatic		Capture	SOLID	Phase_I	4298338	NM_182538	Q8IZ31	Frame_Shift_Ins	INS	ENST00000355530.2	37	CCDS11045.1																																																																																				0.629	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538	
LOC81691	81691	hgsc.bcm.edu	37	16	20857629	20857630	+	In_Frame_Ins	INS	-	-	CTG	rs150794237	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:20857629_20857630insCTG	ENST00000261377.6	+	19	2420_2421	c.2211_2212insCTG	c.(2212-2214)ctc>CTGctc	p.738_738L>LL	AC004381.6_ENST00000564274.1_In_Frame_Ins_p.738_738L>LL|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_In_Frame_Ins_p.707_707L>LL	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2												p.T737_L738insL(1)									GCCCGGGCACTCTCTGCCTCAT	0.54																																					p.T737delinsTL												.	.	1	Insertion - In frame(1)	large_intestine(1)	c.2211_2212insCTG	16						.																																			20765131	SO:0001652	inframe_insertion	81691	exon19																														Exception_encountered	16.37:g.20857629_20857630insCTG	ENSP00000261377:p.Leu738dup	Somatic		Capture	SOLID	Phase_I	20765130	NM_030941		In_Frame_Ins	INS	ENST00000261377.6	37	CCDS10591.1																																																																																				0.540	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2		
GLYR1	84656	hgsc.bcm.edu	37	16	4862228	4862229	+	Frame_Shift_Ins	INS	-	-	C	rs533332243		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:4862228_4862229insC	ENST00000321919.9	-	13	1216_1217	c.1140_1141insG	c.(1138-1143)gggcgcfs	p.R381fs	GLYR1_ENST00000591451.1_Frame_Shift_Ins_p.R375fs|GLYR1_ENST00000436648.5_Frame_Shift_Ins_p.R300fs|GLYR1_ENST00000381983.3_Frame_Shift_Ins_p.R364fs	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	381					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.R381fs*15(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCAGAAAGCGCCCCCCCCTGG	0.574																																					p.R381fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1141_1142insG	16						.			43,4221		0,43,2089						4.8	1.0			40	28,8226		0,28,4099	no	frameshift	GLYR1	NM_032569.3		0,71,6188	A1A1,A1R,RR		0.3392,1.0084,0.5672				71,12447				4802230	SO:0001589	frameshift_variant	84656	exon13			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1141dupG	16.37:g.4862236_4862236dupC	ENSP00000322716:p.Arg381fs	Somatic		Capture	SOLID	Phase_I	4802229	NM_032569	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Frame_Shift_Ins	INS	ENST00000321919.9	37	CCDS10524.1																																																																																				0.574	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569	
PARP15	165631	hgsc.bcm.edu	37	3	122345683	122345684	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:122345683_122345684insA	ENST00000464300.2	+	9	1307_1308	c.1241_1242insA	c.(1240-1245)ggaaaafs	p.GK414fs	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Frame_Shift_Ins_p.GK180fs|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000493645.1_Intron	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	414	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N182fs*7(1)|p.N416fs*7(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GGAAATGCCGGAAAAAACCCTA	0.356																																					p.G180fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.539_540insA	3						.																																			123828374	SO:0001589	frameshift_variant	165631	exon5			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1247dupA	3.37:g.122345689_122345689dupA	ENSP00000417214:p.Gly414fs	Somatic		Capture	SOLID	Phase_I	123828373	NM_152615	J3KR47|Q8N1K3	Frame_Shift_Ins	INS	ENST00000464300.2	37	CCDS46893.1																																																																																				0.356	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615	
HPS3	84343	hgsc.bcm.edu	37	3	148863159	148863160	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:148863159_148863160insA	ENST00000296051.2	+	5	1129_1130	c.989_990insA	c.(988-993)ggaaaafs	p.GK330fs	HPS3_ENST00000460120.1_Frame_Shift_Ins_p.GK165fs	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	330					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.N332fs*31(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACATCTGATGGAAAAAATTTGT	0.347									Hermansky-Pudlak syndrome																												p.G330fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.989_990insA	3						.																																			150345850	SO:0001589	frameshift_variant	84343	exon5	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.995dupA	3.37:g.148863165_148863165dupA	ENSP00000296051:p.Gly330fs	Somatic		Capture	SOLID	Phase_I	150345849	NM_032383	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Frame_Shift_Ins	INS	ENST00000296051.2	37	CCDS3140.1																																																																																				0.347	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	
TGFBR2	7048	hgsc.bcm.edu	37	3	30691871	30691872	+	Frame_Shift_Ins	INS	-	-	A	rs79375991		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:30691871_30691872insA	ENST00000295754.5	+	3	755_756	c.373_374insA	c.(373-375)gaafs	p.E125fs	TGFBR2_ENST00000359013.4_Frame_Shift_Ins_p.E150fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	125					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|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 II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.?(1)|p.P129fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CATTATGAAGGAAAAAAAAAAG	0.421																																					p.E150fs												.	.	2	Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|skin(1)	c.448_449insA	3						.																																			30666876	SO:0001589	frameshift_variant	7048	exon4				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.383dupA	3.37:g.30691881_30691881dupA	ENSP00000295754:p.Glu125fs	Somatic		Capture	SOLID	Phase_I	30666875	NM_001024847	B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Ins	INS	ENST00000295754.5	37	CCDS2648.1																																																																																				0.421	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2		
OR5H1	26341	hgsc.bcm.edu	37	3	97852455	97852456	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:97852455_97852456insA	ENST00000354565.2	+	1	914_915	c.914_915insA	c.(913-918)ttaaaafs	p.LK305fs	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H308fs*3(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ACAAAAATGTTAAAAAAACATG	0.322																																					p.L305fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.914_915insA	3						.																																			99335146	SO:0001589	frameshift_variant	26341	exon1			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.921dupA	3.37:g.97852462_97852462dupA	ENSP00000346575:p.Leu305fs	Somatic		Capture	SOLID	Phase_I	99335145	NM_001005338		Frame_Shift_Ins	INS	ENST00000354565.2	37	CCDS33797.1																																																																																				0.322	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338	
TAS2R50	259296	hgsc.bcm.edu	37	12	11139431	11139432	+	Frame_Shift_Ins	INS	-	-	A	rs79147066	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:11139431_11139432insA	ENST00000506868.1	-	1	79_80	c.28_29insT	c.(28-30)tcafs	p.S10fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	10					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.S10fs*3(2)|p.S10fs*25(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TATTAGAATTGAAAAAAAAATG	0.317																																					p.S10fs												.	.	3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	c.29_30insT	12						.																																			11030699	SO:0001589	frameshift_variant	259296	exon1			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.29dupT	12.37:g.11139440_11139440dupA	ENSP00000424040:p.Ser10fs	Somatic		Capture	SOLID	Phase_I	11030698	NM_176890	P59545|Q2M255|Q645Y0	Frame_Shift_Ins	INS	ENST00000506868.1	37	CCDS8638.1																																																																																				0.317	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890	
WBP11	51729	hgsc.bcm.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:14940365_14940366insG	ENST00000261167.2	-	12	1792_1793	c.1559_1560insC	c.(1558-1560)cctfs	p.P520fs		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	520	Pro-rich.				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.G521fs*28(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGAACAGCCCAGGGGGGGCAGG	0.55																																					p.P520fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1560_1561insC	12						.																																			14831633	SO:0001589	frameshift_variant	51729	exon12			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.1560dupC	12.37:g.14940372_14940372dupG	ENSP00000261167:p.Pro520fs	Somatic		Capture	SOLID	Phase_I	14831632	NM_016312	Q96AY8	Frame_Shift_Ins	INS	ENST00000261167.2	37	CCDS8666.1																																																																																				0.550	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312	
AAAS	8086	hgsc.bcm.edu	37	12	53702089	53702090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:53702089_53702090insC	ENST00000209873.4	-	13	1390_1391	c.1225_1226insG	c.(1225-1227)gaafs	p.E409fs	AAAS_ENST00000394384.3_Frame_Shift_Ins_p.E376fs|AAAS_ENST00000549983.1_5'Flank|AAAS_ENST00000550286.1_Frame_Shift_Ins_p.E285fs	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	409					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)		p.E409fs*17(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGCCAGACGTTCCCCACTGGGG	0.574																																					p.E409fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1226_1227insG	12						.																																			51988357	SO:0001589	frameshift_variant	8086	exon13			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.1226dupG	12.37:g.53702093_53702093dupC	ENSP00000209873:p.Glu409fs	Somatic		Capture	SOLID	Phase_I	51988356	NM_015665	Q5JB47|Q9NWI6|Q9UG19	Frame_Shift_Ins	INS	ENST00000209873.4	37	CCDS8856.1																																																																																				0.574	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1		
ELK3	2004	hgsc.bcm.edu	37	12	96617494	96617495	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:96617494_96617495insA	ENST00000228741.3	+	2	476_477	c.150_151insA	c.(151-153)aaafs	p.K51fs	RP11-394J1.2_ENST00000551844.1_RNA|ELK3_ENST00000552142.1_Frame_Shift_Ins_p.K51fs	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	51					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T52fs*6(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					TCCGAAAAAACAAAACAAATAT	0.47																																					p.N50fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.150_151insA	12						.																																			95141626	SO:0001589	frameshift_variant	2004	exon2			BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.154dupA	12.37:g.96617498_96617498dupA	ENSP00000228741:p.Lys51fs	Somatic		Capture	SOLID	Phase_I	95141625	NM_005230	B2R6S6|Q6FG57|Q6GU29|Q9UD17	Frame_Shift_Ins	INS	ENST00000228741.3	37	CCDS9060.1																																																																																				0.470	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230	
REPS2	9185	hgsc.bcm.edu	37	X	17165604	17165605	+	Stop_Codon_Ins	INS	-	-	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:17165604_17165605insC	ENST00000357277.3	+	0	2154_2155				REPS2_ENST00000303843.7_Stop_Codon_Ins|REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000380064.4_Stop_Codon_Ins	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2						epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CTGTGTTGTGACCCCCCCATGG	0.416																																					p.X660delinsX												.	.	0			c.1980_1981insC	X						.																																			17075526	SO:0001567	stop_retained_variant	9185	exon18			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1987dupC	X.37:g.17165611_17165611dupC		Somatic		Capture	SOLID	Phase_I	17075525	NM_001080975	A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Frame_Shift_Ins	INS	ENST00000357277.3	37	CCDS14180.2																																																																																				0.416	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726	
FAM114A1	92689	hgsc.bcm.edu	37	4	38893412	38893413	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:38893412_38893413insG	ENST00000358869.2	+	4	573_574	c.397_398insG	c.(397-399)tggfs	p.W133fs	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	133						cytoplasm (GO:0005737)		p.K135fs*37(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGGGGATCCTGGGGCAAATCT	0.47																																					p.W133fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.397_398insG	4						.																																			38569808	SO:0001589	frameshift_variant	92689	exon4				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.401dupG	4.37:g.38893416_38893416dupG	ENSP00000351740:p.Trp133fs	Somatic		Capture	SOLID	Phase_I	38569807	NM_138389	A8K9W6|Q6MZV4|Q9BVL6	Frame_Shift_Ins	INS	ENST00000358869.2	37	CCDS3447.1																																																																																				0.470	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389	
FAM175A	84142	hgsc.bcm.edu	37	4	84388678	84388679	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:84388678_84388679insA	ENST00000321945.7	-	7	717_718	c.609_610insT	c.(607-612)tttgaafs	p.E204fs	FAM175A_ENST00000505489.1_5'Flank|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Frame_Shift_Ins_p.E155fs	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	204					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)	p.E204fs*1(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CCATCTTCTTCAAAAAATTTAG	0.307																																					p.E204_E205delinsX												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.610_611insT	4						.																																			84607703	SO:0001589	frameshift_variant	84142	exon7			AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.610dupT	4.37:g.84388684_84388684dupA	ENSP00000369857:p.Glu204fs	Somatic		Capture	SOLID	Phase_I	84607702	NM_139076	A5JJ07|Q9H8I1|Q9H9N4	Frame_Shift_Ins	INS	ENST00000321945.7	37	CCDS3605.2																																																																																				0.307	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076	
WDSUB1	151525	hgsc.bcm.edu	37	2	160104921	160104922	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:160104921_160104922insT	ENST00000409990.3	-	10	1490_1491	c.1234_1235insA	c.(1234-1236)atafs	p.I412fs	WDSUB1_ENST00000409124.1_Intron|WDSUB1_ENST00000358147.4_Frame_Shift_Ins_p.I320fs|WDSUB1_ENST00000392796.3_Frame_Shift_Ins_p.I412fs|WDSUB1_ENST00000359774.4_Frame_Shift_Ins_p.I412fs	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	412	U-box.						ubiquitin-protein transferase activity (GO:0004842)	p.I412fs*3(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TTCTCTAGTTATTGGACATATA	0.381																																					p.I412fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1235_1236insA	2						.																																			159813168	SO:0001589	frameshift_variant	151525	exon10			AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.1235dupA	2.37:g.160104923_160104923dupT	ENSP00000387078:p.Ile412fs	Somatic		Capture	SOLID	Phase_I	159813167	NM_001128213	Q53TI9|Q8N6N8	Frame_Shift_Ins	INS	ENST00000409990.3	37	CCDS2208.1																																																																																				0.381	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528	
LRP2	4036	hgsc.bcm.edu	37	2	170136882	170136883	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:170136882_170136883insA	ENST00000263816.3	-	11	1603_1604	c.1318_1319insT	c.(1318-1320)tggfs	p.W440fs	LRP2_ENST00000443831.1_Frame_Shift_Ins_p.W440fs	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	440					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.W440fs*8(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)"""	GGTGTCTGTCCAAAAAACTCTT	0.45																																					p.W440fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1319_1320insT	2						.																																			169845129	SO:0001589	frameshift_variant	4036	exon11				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.1319dupT	2.37:g.170136888_170136888dupA	ENSP00000263816:p.Trp440fs	Somatic		Capture	SOLID	Phase_I	169845128	NM_004525	O00711|Q16215	Frame_Shift_Ins	INS	ENST00000263816.3	37	CCDS2232.1																																																																																				0.450	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
COL3A1	1281	hgsc.bcm.edu	37	2	189871101	189871102	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:189871101_189871102insC	ENST00000304636.3	+	43	3294_3295	c.3124_3125insC	c.(3124-3126)gccfs	p.A1042fs	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1042	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G1044fs*20(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CTCTCCTGGTGCCCCTGGCGCT	0.48																																					p.A1042fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.3124_3125insC	2						.																																			189579347	SO:0001589	frameshift_variant	1281	exon43			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3128dupC	2.37:g.189871105_189871105dupC	ENSP00000304408:p.Ala1042fs	Somatic		Capture	SOLID	Phase_I	189579346	NM_000090	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Frame_Shift_Ins	INS	ENST00000304636.3	37	CCDS2297.1																																																																																				0.480	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
RNF25	64320	hgsc.bcm.edu	37	2	219529513	219529514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:219529513_219529514insC	ENST00000295704.2	-	9	1189_1190	c.749_750insG	c.(748-750)ggafs	p.G250fs		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	250					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I251fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAATGATTCCCCCCCGCTC	0.564																																					p.G250fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.750_751insG	2						.																																			219237758	SO:0001589	frameshift_variant	64320	exon9				CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.750dupG	2.37:g.219529520_219529520dupC	ENSP00000295704:p.Gly250fs	Somatic		Capture	SOLID	Phase_I	219237757	NM_022453	A8K0D6|Q53HQ5|Q9H874	Frame_Shift_Ins	INS	ENST00000295704.2	37	CCDS2420.1																																																																																				0.564	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453	
NUP188	23511	hgsc.bcm.edu	37	9	131745633	131745634	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:131745633_131745634insT	ENST00000372577.2	+	18	1879_1880	c.1858_1859insT	c.(1858-1860)gttfs	p.V620fs		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	620					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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.L621fs*12(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTGCTTAACTGTTTTGGCTGCC	0.441																																					p.V620fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1858_1859insT	9						.																																			130785455	SO:0001589	frameshift_variant	23511	exon18			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1862dupT	9.37:g.131745637_131745637dupT	ENSP00000361658:p.Val620fs	Somatic		Capture	SOLID	Phase_I	130785454	NM_015354	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Frame_Shift_Ins	INS	ENST00000372577.2	37	CCDS35156.1																																																																																				0.441	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		
BAG1	573	hgsc.bcm.edu	37	9	33255869	33255870	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:33255869_33255870insT	ENST00000379704.2	-	6	1029_1030	c.596_597insA	c.(595-597)aagfs	p.K199fs	BAG1_ENST00000467389.2_5'UTR|BAG1_ENST00000472232.3_Frame_Shift_Ins_p.K314fs			Q99933	BAG1_HUMAN	BCL2-associated athanogene	314	Interaction with HSPA8.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)	p.V315fs*9(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			TCACCTGAACCTTTTTTACCAA	0.356																																					p.K199fs	GBM(77;1066 1502 5858 12192)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.597_598insA	9						.																																			33245870	SO:0001589	frameshift_variant	573	exon6			AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262			937	protein-coding gene	gene with protein product		601497				7834747	Standard	NM_004323		Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.597dupA	9.37:g.33255875_33255875dupT	ENSP00000369026:p.Lys199fs	Somatic		Capture	SOLID	Phase_I	33245869	NM_001172415	O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	Frame_Shift_Ins	INS	ENST00000379704.2	37	CCDS55301.1																																																																																				0.356	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052042.3	NM_004323	
IARS	3376	hgsc.bcm.edu	37	9	95022502	95022503	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:95022502_95022503insT	ENST00000375643.3	-	18	2067_2068	c.1801_1802insA	c.(1801-1803)atgfs	p.M601fs	IARS_ENST00000375629.3_De_novo_Start_InFrame|IARS_ENST00000443024.2_Frame_Shift_Ins_p.M601fs|IARS_ENST00000447699.2_Frame_Shift_Ins_p.M491fs	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	601					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.M601fs*21(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CCGTTTGCTCATTTTTTGGCCA	0.386																																					p.M601fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1802_1803insA	9						.																																			94062324	SO:0001589	frameshift_variant	3376	exon18			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1802dupA	9.37:g.95022508_95022508dupT	ENSP00000364794:p.Met601fs	Somatic		Capture	SOLID	Phase_I	94062323	NM_002161	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Frame_Shift_Ins	INS	ENST00000375643.3	37	CCDS6694.1																																																																																				0.386	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	
ZC3H13	23091	hgsc.bcm.edu	37	13	46543660	46543661	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:46543660_46543661insT	ENST00000242848.4	-	14	3366_3367	c.3018_3019insA	c.(3016-3021)aaacgtfs	p.R1007fs	ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Frame_Shift_Ins_p.R1007fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1007	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1007fs*2(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)		GATTTTTTACGTTTTTTTTCAA	0.371																																					p.R1007fs	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.3019_3020insA	13						.																																			45441662	SO:0001589	frameshift_variant	23091	exon14			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.3019dupA	13.37:g.46543668_46543668dupT	ENSP00000242848:p.Arg1007fs	Somatic		Capture	SOLID	Phase_I	45441661	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Ins	INS	ENST00000242848.4	37																																																																																					0.371	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
RNF219	79596	hgsc.bcm.edu	37	13	79216292	79216293	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:79216292_79216293insC	ENST00000282003.6	-	3	322_323	c.264_265insG	c.(262-267)cggaaafs	p.K89fs		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	89							zinc ion binding (GO:0008270)	p.K89fs*3(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGTCTAGTTTTCCGAAGATGCT	0.347																																					p.K89fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.265_266insG	13						.																																			78114294	SO:0001589	frameshift_variant	79596	exon3			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.265dupG	13.37:g.79216294_79216294dupC	ENSP00000282003:p.Lys89fs	Somatic		Capture	SOLID	Phase_I	78114293	NM_024546	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Frame_Shift_Ins	INS	ENST00000282003.6	37	CCDS31997.1																																																																																				0.347	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546	
TACC2	10579	hgsc.bcm.edu	37	10	123971026	123971027	+	Frame_Shift_Ins	INS	-	-	C	rs372505760		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:123971026_123971027insC	ENST00000369005.1	+	9	7426_7427	c.7086_7087insC	c.(7087-7089)cccfs	p.P2363fs	TACC2_ENST00000453444.2_Frame_Shift_Ins_p.P2367fs|TACC2_ENST00000358010.1_Frame_Shift_Ins_p.P509fs|TACC2_ENST00000368999.1_Frame_Shift_Ins_p.P441fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.P2363fs|TACC2_ENST00000515273.1_Frame_Shift_Ins_p.P2367fs|TACC2_ENST00000513429.1_Frame_Shift_Ins_p.P509fs|TACC2_ENST00000369001.1_Frame_Shift_Ins_p.P67fs|TACC2_ENST00000369004.3_Frame_Shift_Ins_p.P441fs|TACC2_ENST00000260733.3_Frame_Shift_Ins_p.P441fs|TACC2_ENST00000515603.1_Frame_Shift_Ins_p.P2318fs|TACC2_ENST00000360561.3_Frame_Shift_Ins_p.P441fs|TACC2_ENST00000369000.1_Frame_Shift_Ins_p.P67fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2363	SPAZ.				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.Q2364fs*7(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)				CTCCCAAACTGCCCCAACAATC	0.46																																					p.L440fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1320_1321insC	10						.																																			123961017	SO:0001589	frameshift_variant	10579	exon3			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.7090dupC	10.37:g.123971030_123971030dupC	ENSP00000358001:p.Pro2363fs	Somatic		Capture	SOLID	Phase_I	123961016	NM_206860	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Ins	INS	ENST00000369005.1	37	CCDS7626.1																																																																																				0.460	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
CUL2	8453	hgsc.bcm.edu	37	10	35351915	35351916	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:35351915_35351916insA	ENST00000374748.1	-	4	507_508	c.194_195insT	c.(193-195)ttgfs	p.L65fs	CUL2_ENST00000374751.3_Frame_Shift_Ins_p.L65fs|CUL2_ENST00000537177.1_Frame_Shift_Ins_p.L84fs|CUL2_ENST00000374746.1_Frame_Shift_Ins_p.L65fs|CUL2_ENST00000374749.3_Frame_Shift_Ins_p.L65fs|CUL2_ENST00000374742.1_Frame_Shift_Ins_p.L65fs|CUL2_ENST00000478044.1_5'Flank|CUL2_ENST00000602371.1_Frame_Shift_Ins_p.W23fs			Q13617	CUL2_HUMAN	cullin 2	65					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.L65fs*10(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATGATTTTCCAAAAAAATCTT	0.312																																					p.L65fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.195_196insT	10						.																																			35391922	SO:0001589	frameshift_variant	8453	exon3			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.195dupT	10.37:g.35351922_35351922dupA	ENSP00000363880:p.Leu65fs	Somatic		Capture	SOLID	Phase_I	35391921	NM_001198777	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Frame_Shift_Ins	INS	ENST00000374748.1	37	CCDS7179.1																																																																																				0.312	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591	
PDZD2	23037	hgsc.bcm.edu	37	5	31799540	31799541	+	Frame_Shift_Ins	INS	-	-	C	rs371280714		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:31799540_31799541insC	ENST00000438447.1	+	2	573_574	c.185_186insC	c.(184-189)agccccfs	p.SP62fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.SP62fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	62					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.E65fs*34(1)|p.E65fs*21(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						CCTGATCACAGCCCCCCCGAAA	0.589																																					p.S62fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(1)|ovary(1)	c.185_186insC	5						.																																			31835298	SO:0001589	frameshift_variant	23037	exon1			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.192dupC	5.37:g.31799547_31799547dupC	ENSP00000402033:p.Ser62fs	Somatic		Capture	SOLID	Phase_I	31835297	NM_178140	Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	CCDS34137.1																																																																																				0.589	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
DNAJC21	134218	hgsc.bcm.edu	37	5	34945872	34945873	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:34945872_34945873insA	ENST00000342382.4	+	9	1376_1377	c.1149_1150insA	c.(1150-1152)aaafs	p.K384fs	DNAJC21_ENST00000512136.1_3'UTR|DNAJC21_ENST00000303525.7_Frame_Shift_Ins_p.K397fs|DNAJC21_ENST00000382021.2_Frame_Shift_Ins_p.K384fs			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	384	Poly-Lys.				protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q386fs*52(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTAGGCTTTCTAAAAAACAGAA	0.307																																					p.S383fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1149_1150insA	5						.																																			34981630	SO:0001589	frameshift_variant	134218	exon9				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1155dupA	5.37:g.34945878_34945878dupA	ENSP00000343728:p.Lys384fs	Somatic		Capture	SOLID	Phase_I	34981629	NM_194283	Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Frame_Shift_Ins	INS	ENST00000342382.4	37	CCDS34144.1																																																																																				0.307	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283	
SRRT	51593	hgsc.bcm.edu	37	7	100479698	100479698	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:100479698C>G	ENST00000347433.4	+	5	581	c.423C>G	c.(421-423)gaC>gaG	p.D141E	SRRT_ENST00000388793.4_Missense_Mutation_p.D141E|SRRT_ENST00000457580.2_Missense_Mutation_p.D141E|SRRT_ENST00000432932.1_Missense_Mutation_p.D141E			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	141					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.D141E(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAGAGATTGACCTGGGTGTGC	0.602																																					p.D141E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C423G	7						.						92.0	89.0	90.0					7																	100479698		2203	4300	6503	100317634	SO:0001583	missense	51593	exon5				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.423C>G	7.37:g.100479698C>G	ENSP00000314491:p.Asp141Glu	Somatic		Capture	SOLID	Phase_I	100317634	NM_001128852	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	8.778	0.927551	0.18056	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000539682;ENST00000432932;ENST00000347433	.	.	.	4.77	4.77	0.60923	.	0.062472	0.64402	D	0.000014	T	0.37892	0.1020	L	0.29908	0.895	0.45528	D	0.998481	B;B;B;B	0.12630	0.006;0.006;0.006;0.004	B;B;B;B	0.14578	0.011;0.011;0.011;0.005	T	0.19418	-1.0306	9	0.05721	T	0.95	.	8.8345	0.35104	0.0:0.8988:0.0:0.1012	.	141;141;141;141	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	E	141;141;56;141;141	.	ENSP00000314491:D141E	D	+	3	2	SRRT	100317634	0.023000	0.18921	0.881000	0.34555	0.014000	0.08584	-0.101000	0.10973	2.454000	0.82982	0.563000	0.77884	GAC		0.602	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908	
MOGAT3	346606	hgsc.bcm.edu	37	7	100839276	100839276	+	Missense_Mutation	SNP	T	T	C	rs367611618		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:100839276T>C	ENST00000223114.4	-	7	1143	c.977A>G	c.(976-978)cAc>cGc	p.H326R	MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000379423.3_Silent_p.A258A	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	326					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)	p.H326R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCTTTCCTTGTGCTCCTCGAA	0.652																																					p.H326R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A977G	7						.	T	ARG/HIS	0,4406		0,0,2203	72.0	70.0	71.0		977	5.1	1.0	7		71	2,8598	2.2+/-6.3	0,2,4298	no	missense	MOGAT3	NM_178176.2	29	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	probably-damaging	326/342	100839276	2,13004	2203	4300	6503	100625996	SO:0001583	missense	346606	exon7			AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.977A>G	7.37:g.100839276T>C	ENSP00000223114:p.His326Arg	Somatic		Capture	SOLID	Phase_I	100625996	NM_178176	Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793192	0.70452	0.0	2.33E-4	ENSG00000106384	ENST00000223114	T	0.18338	2.22	5.07	5.07	0.68467	.	0.105878	0.64402	D	0.000005	T	0.49150	0.1540	M	0.93106	3.38	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.59830	-0.7380	10	0.72032	D	0.01	.	11.2303	0.48907	0.0:0.0:0.0:1.0	.	326	Q86VF5	MOGT3_HUMAN	R	326	ENSP00000223114:H326R	ENSP00000223114:H326R	H	-	2	0	MOGAT3	100625996	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	5.626000	0.67777	1.911000	0.55334	0.528000	0.53228	CAC		0.652	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176	
PSMC2	5701	hgsc.bcm.edu	37	7	103008411	103008411	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:103008411T>C	ENST00000435765.1	+	13	1623	c.1212T>C	c.(1210-1212)gcT>gcC	p.A404A	PSMC2_ENST00000292644.3_Silent_p.A404A|PSMC2_ENST00000544811.1_Silent_p.A267A|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	404					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A404A(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GAAAAATTGCTACCGAGAAGG	0.418																																					p.A404A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1212C	7						.						89.0	88.0	88.0					7																	103008411		2203	4300	6503	102795647	SO:0001819	synonymous_variant	5701	exon12			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1212T>C	7.37:g.103008411T>C		Somatic		Capture	SOLID	Phase_I	102795647	NM_002803	A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	CCDS5731.1																																																																																				0.418	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803	
SLC26A5	375611	hgsc.bcm.edu	37	7	103033451	103033451	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:103033451G>A	ENST00000306312.3	-	10	1295	c.1034C>T	c.(1033-1035)gCc>gTc	p.A345V	SLC26A5_ENST00000393727.1_Missense_Mutation_p.A345V|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A345V|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A345V|SLC26A5_ENST00000393735.2_Missense_Mutation_p.A345V|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A345V|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A345V|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A308V	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	345					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.A345V(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GATGGCTATGGCAATGGCATC	0.478																																					p.A345V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1034T	7						.						223.0	174.0	191.0					7																	103033451		2203	4300	6503	102820687	SO:0001583	missense	375611	exon10			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1034C>T	7.37:g.103033451G>A	ENSP00000304783:p.Ala345Val	Somatic		Capture	SOLID	Phase_I	102820687	NM_206884	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539859	0.96474	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	5.74	5.74	0.90152	Sulphate transporter (1);	0.048654	0.85682	D	0.000000	D	0.95698	0.8601	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.85130	0.997;0.993;0.95;0.988	D	0.95867	0.8888	10	0.87932	D	0	.	19.514	0.95155	0.0:0.0:1.0:0.0	.	345;345;345;345	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	V	345;345;345;345;345;308;345;345	ENSP00000342396:A345V;ENSP00000377336:A345V;ENSP00000304783:A345V;ENSP00000377331:A345V;ENSP00000389733:A345V;ENSP00000377330:A308V;ENSP00000377328:A345V;ENSP00000377324:A345V	ENSP00000304783:A345V	A	-	2	0	SLC26A5	102820687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.011000	0.93618	2.707000	0.92482	0.655000	0.94253	GCC		0.478	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	
RELN	5649	hgsc.bcm.edu	37	7	103338438	103338438	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:103338438T>C	ENST00000428762.1	-	10	1164	c.1005A>G	c.(1003-1005)gtA>gtG	p.V335V	RELN_ENST00000424685.2_Silent_p.V335V|RELN_ENST00000343529.5_Silent_p.V335V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	335					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.V335V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACACTTCACCTACACGAAGAT	0.463																																					p.V335V	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1005G	7						.						234.0	207.0	216.0					7																	103338438		2203	4300	6503	103125674	SO:0001819	synonymous_variant	5649	exon10				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1005A>G	7.37:g.103338438T>C		Somatic		Capture	SOLID	Phase_I	103125674	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																				0.463	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
PIK3CG	5294	hgsc.bcm.edu	37	7	106508855	106508855	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:106508855C>T	ENST00000359195.3	+	2	1159	c.849C>T	c.(847-849)ggC>ggT	p.G283G	PIK3CG_ENST00000440650.2_Silent_p.G283G|PIK3CG_ENST00000496166.1_Silent_p.G283G	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	283	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G283G(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACCTGGTGGGCGAAACGCCCA	0.552																																					p.G283G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C849T	7						.						45.0	43.0	44.0					7																	106508855		2203	4300	6503	106296091	SO:0001819	synonymous_variant	5294	exon2				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.849C>T	7.37:g.106508855C>T		Somatic		Capture	SOLID	Phase_I	106296091	NM_002649	A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	CCDS5739.1																																																																																				0.552	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
PPP1R3A	5506	hgsc.bcm.edu	37	7	113518143	113518143	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:113518143A>G	ENST00000284601.3	-	4	3072	c.3004T>C	c.(3004-3006)Tat>Cat	p.Y1002H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1002					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.Y1002H(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCCACACTATACTCTTCTGTT	0.383																																					p.Y1002H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3004C	7						.						123.0	120.0	121.0					7																	113518143		2203	4298	6501	113305379	SO:0001583	missense	5506	exon4			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3004T>C	7.37:g.113518143A>G	ENSP00000284601:p.Tyr1002His	Somatic		Capture	SOLID	Phase_I	113305379	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.745111	0.00675	.	.	ENSG00000154415	ENST00000284601	T	0.15256	2.44	5.71	-8.0	0.01126	.	1.217210	0.05533	N	0.564373	T	0.05135	0.0137	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.34551	-0.9824	10	0.15952	T	0.53	7.2979	0.2322	0.00181	0.2863:0.1581:0.2185:0.3371	.	1002	Q16821	PPR3A_HUMAN	H	1002	ENSP00000284601:Y1002H	ENSP00000284601:Y1002H	Y	-	1	0	PPP1R3A	113305379	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.896000	0.01605	-0.937000	0.03719	-0.451000	0.05528	TAT		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
PTPRZ1	5803	hgsc.bcm.edu	37	7	121679537	121679537	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:121679537T>C	ENST00000393386.2	+	20	5943	c.5532T>C	c.(5530-5532)gaT>gaC	p.D1844D	PTPRZ1_ENST00000449182.1_Silent_p.D977D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1844	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D1844D(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGCCTGCCGATGGGAGTGAGG	0.393																																					p.D1844D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T5532C	7						.						98.0	95.0	96.0					7																	121679537		2203	4300	6503	121466773	SO:0001819	synonymous_variant	5803	exon20			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5532T>C	7.37:g.121679537T>C		Somatic		Capture	SOLID	Phase_I	121466773	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	CCDS34740.1																																																																																				0.393	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
GPR37	2861	hgsc.bcm.edu	37	7	124404417	124404417	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:124404417G>A	ENST00000303921.2	-	1	1264	c.614C>T	c.(613-615)gCg>gTg	p.A205V		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	205					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.A205V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCGTGCCCCGCCAGTCCATT	0.642																																					p.A205V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C614T	7						.						41.0	47.0	45.0					7																	124404417		2203	4300	6503	124191653	SO:0001583	missense	2861	exon1				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.614C>T	7.37:g.124404417G>A	ENSP00000306449:p.Ala205Val	Somatic		Capture	SOLID	Phase_I	124191653	NM_005302	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	6.587	0.476724	0.12521	.	.	ENSG00000170775	ENST00000303921	T	0.70986	-0.53	4.17	-0.306	0.12780	.	0.562730	0.18230	N	0.147611	T	0.47414	0.1444	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.19549	-1.0302	10	0.33940	T	0.23	0.6318	2.9993	0.06009	0.3863:0.0:0.4217:0.192	.	205	O15354	GPR37_HUMAN	V	205	ENSP00000306449:A205V	ENSP00000306449:A205V	A	-	2	0	GPR37	124191653	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	0.393000	0.20817	-0.053000	0.13289	0.650000	0.86243	GCG		0.642	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
SND1	27044	hgsc.bcm.edu	37	7	127447556	127447556	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:127447556C>T	ENST00000354725.3	+	11	1365	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	391	TNase-like 3. {ECO:0000255|PROSITE- ProRule:PRU00272}.				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.R391C(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						CAAGAAACTGCGTCCCCTGTA	0.358																																					p.R391C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1171T	7						.						167.0	165.0	166.0					7																	127447556		2203	4300	6503	127234792	SO:0001583	missense	27044	exon11				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.1171C>T	7.37:g.127447556C>T	ENSP00000346762:p.Arg391Cys	Somatic		Capture	SOLID	Phase_I	127234792	NM_014390	Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591613	0.86953	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.34667	1.35	5.86	5.86	0.93980	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.096254	0.64402	D	0.000001	T	0.64271	0.2583	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.66200	-0.5983	10	0.87932	D	0	-10.9039	18.0523	0.89353	0.0:1.0:0.0:0.0	.	391	Q7KZF4	SND1_HUMAN	C	391;381	ENSP00000346762:R391C	ENSP00000346762:R391C	R	+	1	0	SND1	127234792	1.000000	0.71417	0.962000	0.40283	0.718000	0.41266	5.262000	0.65501	2.937000	0.99478	0.650000	0.86243	CGT		0.358	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390	
PODXL	5420	hgsc.bcm.edu	37	7	131194328	131194328	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:131194328C>T	ENST00000378555.3	-	4	1066	c.819G>A	c.(817-819)tcG>tcA	p.S273S	PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000541194.1_Silent_p.S275S|PODXL_ENST00000537928.1_Silent_p.S241S|PODXL_ENST00000322985.9_Silent_p.S241S			O00592	PODXL_HUMAN	podocalyxin-like	273	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.S273S(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GAGTTCTTTGCGAGATAACCG	0.517																																					p.S273S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.G819A	7						.						165.0	145.0	152.0					7																	131194328		2203	4300	6503	130844868	SO:0001819	synonymous_variant	5420	exon4				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.819G>A	7.37:g.131194328C>T		Somatic		Capture	SOLID	Phase_I	130844868	NM_001018111	A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	37	CCDS34755.1																																																																																				0.517	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	
TMEM140	55281	hgsc.bcm.edu	37	7	134849555	134849555	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:134849555C>A	ENST00000275767.3	+	2	585	c.362C>A	c.(361-363)gCt>gAt	p.A121D	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	121						integral component of membrane (GO:0016021)		p.A121D(1)		kidney(1)|large_intestine(2)|lung(2)	5						GGCTTCCTGGCTGTGTCCTCT	0.647																																					p.A121D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C362A	7						.						43.0	40.0	41.0					7																	134849555		2203	4300	6503	134500095	SO:0001583	missense	55281	exon2			AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.362C>A	7.37:g.134849555C>A	ENSP00000275767:p.Ala121Asp	Somatic		Capture	SOLID	Phase_I	134500095	NM_018295	A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951350	0.34471	.	.	ENSG00000146859	ENST00000275767	T	0.22134	1.97	5.28	-2.51	0.06365	.	0.989823	0.08217	N	0.979730	T	0.28863	0.0716	L	0.60455	1.87	0.20074	N	0.999934	P	0.49783	0.928	P	0.53006	0.715	T	0.32771	-0.9894	10	0.72032	D	0.01	-3.118	6.6713	0.23070	0.0:0.3568:0.3464:0.2968	.	121	Q9NV12	TM140_HUMAN	D	121	ENSP00000275767:A121D	ENSP00000275767:A121D	A	+	2	0	TMEM140	134500095	0.001000	0.12720	0.015000	0.15790	0.099000	0.18886	-0.715000	0.04997	-0.341000	0.08376	-0.150000	0.13652	GCT		0.647	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295	
STRA8	346673	hgsc.bcm.edu	37	7	134927583	134927583	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:134927583C>T	ENST00000275764.3	+	3	309	c.309C>T	c.(307-309)acC>acT	p.T103T		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.T103T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						TGGAGCAAACCCTGGATAATT	0.458																																					p.T103T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C309T	7						.						117.0	115.0	116.0					7																	134927583		2203	4300	6503	134578123	SO:0001819	synonymous_variant	346673	exon3			AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.309C>T	7.37:g.134927583C>T		Somatic		Capture	SOLID	Phase_I	134578123	NM_182489		Silent	SNP	ENST00000275764.3	37	CCDS5839.1																																																																																				0.458	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489	
PDIA4	9601	hgsc.bcm.edu	37	7	148702998	148702998	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:148702998A>G	ENST00000286091.4	-	8	1511	c.1279T>C	c.(1279-1281)Tac>Cac	p.Y427H		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	427					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.Y427H(1)		large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCAGCTCTGTAATCAAAGCTG	0.617											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y427H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1279C	7						.						42.0	45.0	44.0					7																	148702998		2203	4300	6503	148333931	SO:0001583	missense	9601	exon8			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1279T>C	7.37:g.148702998A>G	ENSP00000286091:p.Tyr427His	Somatic	1719	Capture	SOLID	Phase_I	148333931	NM_004911	A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250994	0.39797	.	.	ENSG00000155660	ENST00000286091	T	0.14022	2.54	5.11	5.11	0.69529	Thioredoxin-like fold (1);	0.110928	0.64402	D	0.000005	T	0.16854	0.0405	M	0.64404	1.975	0.80722	D	1	B	0.20671	0.047	B	0.23275	0.045	T	0.04065	-1.0980	10	0.19590	T	0.45	.	14.9114	0.70761	1.0:0.0:0.0:0.0	.	427	P13667	PDIA4_HUMAN	H	427	ENSP00000286091:Y427H	ENSP00000286091:Y427H	Y	-	1	0	PDIA4	148333931	1.000000	0.71417	0.483000	0.27378	0.833000	0.47200	8.993000	0.93524	1.925000	0.55765	0.459000	0.35465	TAC		0.617	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911	
MEOX2	4223	hgsc.bcm.edu	37	7	15652021	15652021	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:15652021C>T	ENST00000262041.5	-	3	1315	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	302					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 (GO:0043565)	p.A302A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ATCATAAGTGCGCATGCTCTG	0.478																																					p.A302A	Esophageal Squamous(140;197 1769 16409 18257 29929)											.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G906A	7						.						120.0	103.0	109.0					7																	15652021		2203	4300	6503	15618546	SO:0001819	synonymous_variant	4223	exon3				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.906G>A	7.37:g.15652021C>T		Somatic		Capture	SOLID	Phase_I	15618546	NM_005924	B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	37	CCDS34605.1																																																																																				0.478	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924	
GIMAP8	155038	hgsc.bcm.edu	37	7	150163852	150163852	+	Silent	SNP	A	A	C	rs141075334	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:150163852A>C	ENST00000307271.3	+	2	640	c.66A>C	c.(64-66)ggA>ggC	p.G22G		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	22	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.S24fs*22(1)|p.G22G(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCCGCTCGGGAAAAAGTGCCA	0.527																																					p.G22G												.	.	2	Deletion - Frameshift(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.A66C	7						.						78.0	77.0	78.0					7																	150163852		2203	4300	6503	149794785	SO:0001819	synonymous_variant	155038	exon2			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.66A>C	7.37:g.150163852A>C		Somatic		Capture	SOLID	Phase_I	149794785	NM_175571		Silent	SNP	ENST00000307271.3	37	CCDS34777.1																																																																																				0.527	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571	
BRAT1	221927	hgsc.bcm.edu	37	7	2594051	2594051	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:2594051G>A	ENST00000340611.4	-	2	271	c.15C>T	c.(13-15)tgC>tgT	p.C5C		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	5					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)		p.C5C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCAGCTGGGCGCATTCTGGGT	0.597																																					p.C5C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C15T	7						.						41.0	41.0	41.0					7																	2594051		2203	4300	6503	2560577	SO:0001819	synonymous_variant	221927	exon2			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.15C>T	7.37:g.2594051G>A		Somatic		Capture	SOLID	Phase_I	2560577	NM_152743	A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	CCDS5334.1																																																																																				0.597	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743	
SDK1	221935	hgsc.bcm.edu	37	7	4116743	4116743	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:4116743A>G	ENST00000404826.2	+	21	3263	c.3124A>G	c.(3124-3126)Acc>Gcc	p.T1042A	SDK1_ENST00000389531.3_Missense_Mutation_p.T1042A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1042	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T1042A(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACCACCTACACCATCGACGT	0.582																																					p.T1042A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3124G	7						.						150.0	117.0	128.0					7																	4116743		2203	4300	6503	4083269	SO:0001583	missense	221935	exon21			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3124A>G	7.37:g.4116743A>G	ENSP00000385899:p.Thr1042Ala	Somatic		Capture	SOLID	Phase_I	4083269	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241142	0.39598	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.58797	0.31;0.31	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.076631	0.52532	D	0.000068	T	0.51176	0.1659	L	0.40543	1.245	0.38324	D	0.943619	B;B	0.21520	0.057;0.014	B;B	0.27715	0.082;0.043	T	0.51156	-0.8741	10	0.30078	T	0.28	.	15.3825	0.74669	1.0:0.0:0.0:0.0	.	1042;1042	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	A	1042	ENSP00000385899:T1042A;ENSP00000374182:T1042A	ENSP00000374182:T1042A	T	+	1	0	SDK1	4083269	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	6.073000	0.71245	2.042000	0.60477	0.528000	0.53228	ACC		0.582	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
MACC1	346389	hgsc.bcm.edu	37	7	20199427	20199427	+	Missense_Mutation	SNP	C	C	T	rs375276990		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:20199427C>T	ENST00000400331.5	-	5	865	c.557G>A	c.(556-558)cGc>cAc	p.R186H	MACC1_ENST00000332878.4_Missense_Mutation_p.R186H|MACC1_ENST00000589011.1_Missense_Mutation_p.R186H	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	186					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R186H(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GGCCAGCTGGCGTTGACTTAA	0.478																																					p.R186H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557A	7						.						60.0	58.0	58.0					7																	20199427		2203	4300	6503	20165952	SO:0001583	missense	346389	exon5				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.557G>A	7.37:g.20199427C>T	ENSP00000383185:p.Arg186His	Somatic		Capture	SOLID	Phase_I	20165952	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969215	0.74246	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.25414	1.8;1.8	5.71	3.91	0.45181	.	0.043798	0.85682	N	0.000000	T	0.26593	0.0650	M	0.73962	2.25	0.58432	D	0.999996	P	0.38788	0.647	B	0.28709	0.093	T	0.11743	-1.0575	10	0.87932	D	0	-3.1329	12.6516	0.56764	0.0:0.8655:0.0:0.1345	.	186	Q6ZN28	MACC1_HUMAN	H	186	ENSP00000383185:R186H;ENSP00000328410:R186H	ENSP00000328410:R186H	R	-	2	0	MACC1	20165952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.978000	0.63799	0.768000	0.33290	0.585000	0.79938	CGC		0.478	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
SP4	6671	hgsc.bcm.edu	37	7	21470411	21470411	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:21470411C>A	ENST00000222584.3	+	3	1846	c.1628C>A	c.(1627-1629)gCt>gAt	p.A543D		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	543					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A543D(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AACCTGGGTGCTGCAGGTGTT	0.453																																					p.A543D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1628A	7						.						125.0	122.0	123.0					7																	21470411		2203	4300	6503	21436936	SO:0001583	missense	6671	exon3				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1628C>A	7.37:g.21470411C>A	ENSP00000222584:p.Ala543Asp	Somatic		Capture	SOLID	Phase_I	21436936	NM_003112	O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849918	0.71603	.	.	ENSG00000105866	ENST00000222584	T	0.10573	2.86	5.25	5.25	0.73442	.	0.058362	0.64402	D	0.000001	T	0.27278	0.0669	L	0.59436	1.845	0.80722	D	1	D	0.62365	0.991	P	0.58013	0.831	T	0.00102	-1.2062	10	0.54805	T	0.06	.	19.3982	0.94617	0.0:1.0:0.0:0.0	.	543	Q02446	SP4_HUMAN	D	543	ENSP00000222584:A543D	ENSP00000222584:A543D	A	+	2	0	SP4	21436936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.520000	0.67080	2.894000	0.99253	0.655000	0.94253	GCT		0.453	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112	
FAM126A	84668	hgsc.bcm.edu	37	7	22985354	22985354	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:22985354C>T	ENST00000432176.2	-	11	1652	c.1420G>A	c.(1420-1422)Gct>Act	p.A474T	FAM126A_ENST00000498833.1_5'Flank|FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	474				A -> V (in Ref. 3; CAE45864). {ECO:0000305}.	signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.A474T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TCTGTCCCAGCCCCACAACCA	0.448																																					p.A474T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1420A	7						.						102.0	95.0	97.0					7																	22985354		2203	4299	6502	22951879	SO:0001583	missense	84668	exon11			BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1420G>A	7.37:g.22985354C>T	ENSP00000403396:p.Ala474Thr	Somatic		Capture	SOLID	Phase_I	22951879	NM_032581	A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Missense_Mutation	SNP	ENST00000432176.2	37	CCDS5377.1	.	.	.	.	.	.	.	.	.	.	C	8.928	0.962790	0.18583	.	.	ENSG00000122591	ENST00000432176	T	0.78246	-1.16	5.64	-7.73	0.01245	.	1.272230	0.04747	N	0.423856	T	0.57636	0.2067	N	0.22421	0.69	0.31715	N	0.639037	B	0.02656	0.0	B	0.01281	0.0	T	0.38693	-0.9649	10	0.13853	T	0.58	-28.106	8.0538	0.30593	0.0943:0.5378:0.2042:0.1637	.	474	Q9BYI3	HYCCI_HUMAN	T	474	ENSP00000403396:A474T	ENSP00000403396:A474T	A	-	1	0	FAM126A	22951879	0.000000	0.05858	0.738000	0.30950	0.993000	0.82548	-1.797000	0.01749	-1.279000	0.02405	-0.300000	0.09419	GCT		0.448	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581	
NPVF	64111	hgsc.bcm.edu	37	7	25266586	25266586	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:25266586T>C	ENST00000222674.2	-	2	244	c.198A>G	c.(196-198)ggA>ggG	p.G66G		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	66					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.G66G(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CATTTTTTGGTCCCCAATCTT	0.373																																					p.G66G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A198G	7						.						115.0	121.0	119.0					7																	25266586		2203	4300	6503	25233111	SO:0001819	synonymous_variant	64111	exon2			AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.198A>G	7.37:g.25266586T>C		Somatic		Capture	SOLID	Phase_I	25233111	NM_022150	A4D164|Q7LE27|Q96PI9	Silent	SNP	ENST00000222674.2	37	CCDS5395.1																																																																																				0.373	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150	
FKBP9	11328	hgsc.bcm.edu	37	7	33039836	33039836	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:33039836A>G	ENST00000242209.4	+	8	1505	c.1336A>G	c.(1336-1338)Att>Gtt	p.I446V	FKBP9_ENST00000538443.1_Missense_Mutation_p.I308V|FKBP9_ENST00000538336.1_Missense_Mutation_p.I499V|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Missense_Mutation_p.I214V|RNU6-388P_ENST00000517012.1_RNA	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	446	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.I446V(1)|p.I214V(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GACAGTGATCATTCCGCCTCA	0.507																																					p.I446V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1336G	7						.						85.0	79.0	81.0					7																	33039836		2202	4281	6483	33006361	SO:0001583	missense	11328	exon8			AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1336A>G	7.37:g.33039836A>G	ENSP00000242209:p.Ile446Val	Somatic		Capture	SOLID	Phase_I	33006361	NM_007270	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.902016	0.33628	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000418354;ENST00000490776	D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27	5.15	5.15	0.70609	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	T	0.81327	0.4799	L	0.35288	1.05	0.80722	D	1	P;B;B	0.37370	0.592;0.002;0.034	B;B;B	0.39660	0.306;0.047;0.098	T	0.78107	-0.2333	10	0.10636	T	0.68	-15.8135	15.2797	0.73773	1.0:0.0:0.0:0.0	.	214;499;446	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	V	446;499;308;214;214	ENSP00000242209:I446V;ENSP00000439250:I499V;ENSP00000437504:I308V;ENSP00000391034:I214V;ENSP00000441317:I214V	ENSP00000242209:I446V	I	+	1	0	FKBP9	33006361	1.000000	0.71417	0.991000	0.47740	0.846000	0.48090	5.108000	0.64609	2.068000	0.61886	0.528000	0.53228	ATT		0.507	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270	
GLI3	2737	hgsc.bcm.edu	37	7	42017303	42017303	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:42017303C>T	ENST00000395925.3	-	12	1750	c.1666G>A	c.(1666-1668)Gcc>Acc	p.A556T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	556					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.A556T(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						CTCGAGTAGGCCTTTGTGCAA	0.448									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A556T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1666A	7						.						218.0	183.0	195.0					7																	42017303		2203	4300	6503	41983828	SO:0001583	missense	2737	exon12	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.1666G>A	7.37:g.42017303C>T	ENSP00000379258:p.Ala556Thr	Somatic	905	Capture	SOLID	Phase_I	41983828	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223410	0.95139	.	.	ENSG00000106571	ENST00000395925	T	0.36157	1.27	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	L	0.33093	0.98	0.80722	D	1	D	0.71674	0.998	P	0.59012	0.85	T	0.46219	-0.9207	10	0.87932	D	0	.	20.1092	0.97906	0.0:1.0:0.0:0.0	.	556	P10071	GLI3_HUMAN	T	556	ENSP00000379258:A556T	ENSP00000379258:A556T	A	-	1	0	GLI3	41983828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.745000	0.94114	0.655000	0.94253	GCC		0.448	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
PKD1L1	168507	hgsc.bcm.edu	37	7	47976551	47976551	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:47976551A>C	ENST00000289672.2	-	4	340	c.290T>G	c.(289-291)aTt>aGt	p.I97S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	97					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.I97S(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGTTTTCCAAATGTTCTGTAA	0.333																																					p.I97S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T290G	7						.						81.0	87.0	85.0					7																	47976551		2202	4299	6501	47943076	SO:0001583	missense	168507	exon4			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.290T>G	7.37:g.47976551A>C	ENSP00000289672:p.Ile97Ser	Somatic		Capture	SOLID	Phase_I	47943076	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	7.703	0.693512	0.15039	.	.	ENSG00000158683	ENST00000289672	T	0.24350	1.86	3.17	0.698	0.18087	.	.	.	.	.	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	P	0.39480	0.675	B	0.29176	0.099	T	0.19549	-1.0302	9	0.87932	D	0	-0.6108	2.3466	0.04273	0.6195:0.0:0.1375:0.243	.	97	Q8TDX9	PK1L1_HUMAN	S	97	ENSP00000289672:I97S	ENSP00000289672:I97S	I	-	2	0	PKD1L1	47943076	0.002000	0.14202	0.001000	0.08648	0.028000	0.11728	0.551000	0.23361	0.134000	0.18681	0.529000	0.55759	ATT		0.333	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
KCTD7	154881	hgsc.bcm.edu	37	7	66104190	66104190	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:66104190A>G	ENST00000275532.3	+	4	1025	c.841A>G	c.(841-843)Atc>Gtc	p.I281V	KCTD7_ENST00000443322.1_Missense_Mutation_p.I281V	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	281					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.I281V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CAAGCGCCCCATCTATGAGTT	0.592																																					p.I281V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A841G	7						.						71.0	63.0	65.0					7																	66104190		2203	4300	6503	65741625	SO:0001583	missense	154881	exon4			AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"""potassium channel tetramerisation domain containing 7"""			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.841A>G	7.37:g.66104190A>G	ENSP00000275532:p.Ile281Val	Somatic		Capture	SOLID	Phase_I	65741625	NM_001167961	A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.848418	0.51164	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.66995	-0.21;-0.24	5.33	5.33	0.75918	.	.	.	.	.	T	0.62780	0.2456	L	0.53249	1.67	0.80722	D	1	B	0.22080	0.064	B	0.13407	0.009	T	0.61969	-0.6953	9	0.56958	D	0.05	.	14.4826	0.67592	1.0:0.0:0.0:0.0	.	281	Q96MP8	KCTD7_HUMAN	V	281	ENSP00000275532:I281V;ENSP00000411624:I281V	ENSP00000275532:I281V	I	+	1	0	KCTD7	65741625	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.933000	0.75874	2.011000	0.59026	0.533000	0.62120	ATC		0.592	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033	
CACNA2D1	781	hgsc.bcm.edu	37	7	81637024	81637024	+	Missense_Mutation	SNP	C	C	T	rs377337212		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:81637024C>T	ENST00000356253.5	-	16	1666	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	MIR1255B1_ENST00000439234.1_RNA|MIR1255B1_ENST00000454066.1_RNA|CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G471S			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	471	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G471S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCAAATTGGCCGGTTATGTTG	0.308																																					p.G471S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1411A	7						.	C	SER/GLY	0,4406		0,0,2203	46.0	45.0	45.0		1411	5.6	1.0	7		45	1,8597	1.2+/-3.3	0,1,4298	no	missense	CACNA2D1	NM_000722.2	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	471/1092	81637024	1,13003	2203	4299	6502	81474960	SO:0001583	missense	781	exon16			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1411G>A	7.37:g.81637024C>T	ENSP00000348589:p.Gly471Ser	Somatic		Capture	SOLID	Phase_I	81474960	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	C	13.45	2.241467	0.39598	0.0	1.16E-4	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.06528	3.3;3.29	5.59	5.59	0.84812	.	0.137705	0.52532	D	0.000061	T	0.03915	0.0110	N	0.08118	0	0.80722	D	1	B	0.33748	0.423	B	0.26094	0.066	T	0.56159	-0.8025	10	0.15066	T	0.55	-14.6817	19.2053	0.93728	0.0:1.0:0.0:0.0	.	471	P54289-2	.	S	471	ENSP00000349320:G471S;ENSP00000348589:G471S	ENSP00000284088:G471S	G	-	1	0	CACNA2D1	81474960	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	4.038000	0.57318	2.626000	0.88956	0.585000	0.79938	GGC		0.308	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
SEMA3A	10371	hgsc.bcm.edu	37	7	83592641	83592641	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:83592641A>G	ENST00000265362.4	-	16	2054	c.1740T>C	c.(1738-1740)ccT>ccC	p.P580P	SEMA3A_ENST00000436949.1_Silent_p.P580P	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	580	Ig-like C2-type.				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.P580P(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						TTCTCTCTTCAGGGCTGTGGC	0.403																																					p.P580P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1740C	7						.						99.0	96.0	97.0					7																	83592641		2203	4300	6503	83430577	SO:0001819	synonymous_variant	10371	exon16			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.1740T>C	7.37:g.83592641A>G		Somatic		Capture	SOLID	Phase_I	83430577	NM_006080		Silent	SNP	ENST00000265362.4	37	CCDS5599.1																																																																																				0.403	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	
ABCB4	5244	hgsc.bcm.edu	37	7	87079355	87079355	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:87079355G>A	ENST00000265723.4	-	8	873	c.762C>T	c.(760-762)gcC>gcT	p.A254A	ABCB4_ENST00000453593.1_Silent_p.A254A|ABCB4_ENST00000358400.3_Silent_p.A254A|ABCB4_ENST00000359206.3_Silent_p.A254A|ABCB4_ENST00000545634.1_Silent_p.A254A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	254	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.A254A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTTCTGCCACGGCGCCTGCTT	0.478																																					p.A254A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C762T	7						.						92.0	87.0	89.0					7																	87079355		2203	4300	6503	86917291	SO:0001819	synonymous_variant	5244	exon8			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.762C>T	7.37:g.87079355G>A		Somatic		Capture	SOLID	Phase_I	86917291	NM_018849	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	CCDS5606.1																																																																																				0.478	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
TAC1	6863	hgsc.bcm.edu	37	7	97363589	97363589	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:97363589T>C	ENST00000319273.5	+	4	547	c.250T>C	c.(250-252)Tta>Cta	p.L84L	TAC1_ENST00000350485.4_Silent_p.L84L|TAC1_ENST00000346867.4_Intron	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	84					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.L84L(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					AGTGGCCCTGTTAAAGGCTCT	0.338																																					p.L84L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T250C	7						.						75.0	75.0	75.0					7																	97363589		2203	4299	6502	97201525	SO:0001819	synonymous_variant	6863	exon4			M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"""Endogenous ligands"""	11517	protein-coding gene	gene with protein product	"""substance K"", ""substance P"", ""neurokinin 1"", ""neurokinin 2"", ""neuromedin L"", ""neurokinin alpha"", ""neuropeptide K"", ""neuropeptide gamma"", ""preprotachykinin"""	162320	"""tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"""	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.250T>C	7.37:g.97363589T>C		Somatic		Capture	SOLID	Phase_I	97201525	NM_013996	O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Silent	SNP	ENST00000319273.5	37	CCDS5649.1																																																																																				0.338	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1	NM_003182	
MCM7	4176	hgsc.bcm.edu	37	7	99695314	99695314	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:99695314T>C	ENST00000303887.5	-	9	1685	c.1040A>G	c.(1039-1041)cAt>cGt	p.H347R	MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Missense_Mutation_p.H171R	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	347	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.H171R(1)|p.H347R(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)					CACATCTTCATGCCCGTATAT	0.502																																					p.H171R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A512G	7						.						205.0	208.0	207.0					7																	99695314		2203	4300	6503	99533250	SO:0001583	missense	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.1040A>G	7.37:g.99695314T>C	ENSP00000307288:p.His347Arg	Somatic		Capture	SOLID	Phase_I	99533250	NM_182776	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455263	0.84209	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.10763	2.84;2.84	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	M	0.92219	3.285	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.51576	-0.8688	10	0.72032	D	0.01	-11.9207	12.4931	0.55912	0.0:0.0:0.0:1.0	.	347	P33993	MCM7_HUMAN	R	347;284;240;171	ENSP00000307288:H347R;ENSP00000346171:H171R	ENSP00000307288:H347R	H	-	2	0	MCM7	99533250	1.000000	0.71417	0.929000	0.37066	0.838000	0.47535	7.819000	0.86621	2.061000	0.61500	0.533000	0.62120	CAT		0.502	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		
ESYT2	57488	hgsc.bcm.edu	37	7	158590670	158590670	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr7:158590670C>T	ENST00000251527.5	-	3	679	c.614G>A	c.(613-615)aGc>aAc	p.S205N	ESYT2_ENST00000497111.1_5'UTR	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	233	Glycerophospholipid-binding barrel-like domain.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)	p.S205N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						ACTAAAGGTGCTAAGGTGGGT	0.458																																					p.S205N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G614A	7						.						111.0	110.0	110.0					7																	158590670		2203	4300	6503	158283431	SO:0001583	missense	57488	exon3			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.614G>A	7.37:g.158590670C>T	ENSP00000251527:p.Ser205Asn	Somatic		Capture	SOLID	Phase_I	158283431	NM_020728	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448254	0.84101	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	T;T	0.76968	-1.06;-1.06	5.16	4.27	0.50696	.	0.034563	0.85682	N	0.000000	T	0.81113	0.4755	L	0.45352	1.415	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.65233	0.933;0.933	T	0.78409	-0.2215	10	0.29301	T	0.29	-16.1336	12.7244	0.57162	0.0:0.9208:0.0:0.0792	.	233;205	A0FGR8-6;A0FGR8-2	.;.	N	205;233;175;29	ENSP00000251527:S205N;ENSP00000275418:S175N	ENSP00000251527:S205N	S	-	2	0	ESYT2	158283431	1.000000	0.71417	0.985000	0.45067	0.838000	0.47535	7.157000	0.77461	1.307000	0.44944	0.555000	0.69702	AGC		0.458	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728	
ESF1	51575	hgsc.bcm.edu	37	20	13695767	13695767	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:13695767C>G	ENST00000202816.1	-	14	2417	c.2310G>C	c.(2308-2310)ttG>ttC	p.L770F		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	770	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L770F(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CCAAATTGAACAAGTGGGAAG	0.348																																					p.L770F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2310C	20						.						96.0	100.0	99.0					20																	13695767		2203	4300	6503	13643767	SO:0001583	missense	51575	exon14				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2310G>C	20.37:g.13695767C>G	ENSP00000202816:p.Leu770Phe	Somatic		Capture	SOLID	Phase_I	13643767	NM_016649	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540573	0.65085	.	.	ENSG00000089048	ENST00000202816	T	0.23552	1.9	6.05	1.85	0.25348	NUC153 (1);	0.000000	0.56097	D	0.000024	T	0.41880	0.1178	L	0.60455	1.87	0.45035	D	0.998053	D	0.89917	1.0	D	0.91635	0.999	T	0.17961	-1.0352	10	0.45353	T	0.12	-6.0E-4	9.8421	0.41004	0.0:0.5784:0.0:0.4216	.	770	Q9H501	ESF1_HUMAN	F	770	ENSP00000202816:L770F	ENSP00000202816:L770F	L	-	3	2	ESF1	13643767	0.657000	0.27393	1.000000	0.80357	0.997000	0.91878	-0.116000	0.10724	0.807000	0.34208	0.650000	0.86243	TTG		0.348	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649	
SEC23B	10483	hgsc.bcm.edu	37	20	18505626	18505626	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:18505626A>G	ENST00000336714.3	+	6	1083	c.651A>G	c.(649-651)cgA>cgG	p.R217R	SEC23B_ENST00000377465.1_Silent_p.R217R|SEC23B_ENST00000377475.3_Silent_p.R217R|SEC23B_ENST00000262544.2_Silent_p.R217R	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)	217					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.R217R(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						AGCAAGCACGACCTGCACAAC	0.458																																					p.R217R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A651G	20						.						97.0	77.0	84.0					20																	18505626		2203	4300	6503	18453626	SO:0001819	synonymous_variant	10483	exon6			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.651A>G	20.37:g.18505626A>G		Somatic		Capture	SOLID	Phase_I	18453626	NM_032986	D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Silent	SNP	ENST00000336714.3	37	CCDS13137.1																																																																																				0.458	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5		
XRN2	22803	hgsc.bcm.edu	37	20	21327106	21327106	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:21327106A>G	ENST00000377191.3	+	17	1678	c.1583A>G	c.(1582-1584)gAt>gGt	p.D528G	XRN2_ENST00000430571.2_Missense_Mutation_p.D452G|XRN2_ENST00000539513.1_Missense_Mutation_p.D474G	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	528					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D528G(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTTGATGTGGATGCAGCTGAT	0.413																																					p.D528G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1583G	20						.						190.0	186.0	187.0					20																	21327106		2203	4300	6503	21275106	SO:0001583	missense	22803	exon17			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1583A>G	20.37:g.21327106A>G	ENSP00000366396:p.Asp528Gly	Somatic		Capture	SOLID	Phase_I	21275106	NM_012255	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541560	0.65085	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.74737	-0.87;-0.87;-0.87	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.71108	0.3301	L	0.55103	1.725	0.80722	D	1	B	0.14805	0.011	B	0.12156	0.007	T	0.65664	-0.6113	10	0.33141	T	0.24	-22.2226	16.3871	0.83514	1.0:0.0:0.0:0.0	.	528	Q9H0D6	XRN2_HUMAN	G	528;452;474	ENSP00000366396:D528G;ENSP00000413548:D452G;ENSP00000441113:D474G	ENSP00000366396:D528G	D	+	2	0	XRN2	21275106	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.932000	0.92897	2.270000	0.75569	0.482000	0.46254	GAT		0.413	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255	
NAPB	63908	hgsc.bcm.edu	37	20	23361924	23361924	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:23361924A>G	ENST00000377026.4	-	8	677	c.592T>C	c.(592-594)Ttg>Ctg	p.L198L	RNA5SP479_ENST00000364858.1_RNA|NAPB_ENST00000398425.3_Silent_p.L104L|NAPB_ENST00000432543.2_Silent_p.L159L|NAPB_ENST00000472855.1_5'UTR	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	198					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.L198L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CTGTATTTCAACAAAGGATTA	0.403																																					p.L198L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T592C	20						.						148.0	126.0	133.0					20																	23361924		2203	4300	6503	23309924	SO:0001819	synonymous_variant	63908	exon8			AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.592T>C	20.37:g.23361924A>G		Somatic		Capture	SOLID	Phase_I	23309924	NM_022080	B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Silent	SNP	ENST00000377026.4	37	CCDS13152.1																																																																																				0.403	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078317.2	NM_022080	
CST4	1472	hgsc.bcm.edu	37	20	23669489	23669489	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:23669489T>C	ENST00000217423.3	-	1	188	c.118A>G	c.(118-120)Aat>Gat	p.N40D		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	40					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.N40D(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CACTCATCATTGAGGTCTGCA	0.572																																					p.N40D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A118G	20						.						143.0	123.0	130.0					20																	23669489		2203	4300	6503	23617489	SO:0001583	missense	1472	exon1				CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.118A>G	20.37:g.23669489T>C	ENSP00000217423:p.Asn40Asp	Somatic		Capture	SOLID	Phase_I	23617489	NM_001899	Q9UBI5|Q9UCS9	Missense_Mutation	SNP	ENST00000217423.3	37	CCDS13159.1	.	.	.	.	.	.	.	.	.	.	T	8.069	0.769831	0.15983	.	.	ENSG00000101441	ENST00000217423	T	0.15017	2.46	2.19	2.19	0.27852	Proteinase inhibitor I25, cystatin (2);	0.362807	0.27236	N	0.020294	T	0.17066	0.0410	M	0.68317	2.08	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.18053	-1.0349	10	0.59425	D	0.04	.	6.2254	0.20706	0.0:0.0:0.0:1.0	.	40	P01036	CYTS_HUMAN	D	40	ENSP00000217423:N40D	ENSP00000217423:N40D	N	-	1	0	CST4	23617489	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.242000	0.18087	0.991000	0.38814	0.358000	0.22013	AAT		0.572	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899	
ABHD12	26090	hgsc.bcm.edu	37	20	25289111	25289111	+	Missense_Mutation	SNP	G	G	A	rs41306784	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:25289111G>A	ENST00000339157.5	-	8	1041	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	ABHD12_ENST00000481556.1_5'UTR|ABHD12_ENST00000376542.3_Missense_Mutation_p.R257W	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	257					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)	p.R257W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						CAGAGGCGCCGCACCAGATTT	0.537													G|||	4	0.000798722	0.0	0.0	5008	,	,		18187	0.0		0.004	False		,,,				2504	0.0				p.R257W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C769T	20						.	G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	33.0	32.0	33.0		769,769	4.7	1.0	20	dbSNP_127	33	16,8584	10.5+/-38.8	0,16,4284	yes	missense,missense	ABHD12	NM_001042472.2,NM_015600.4	101,101	0,17,6486	AA,AG,GG		0.186,0.0227,0.1307	probably-damaging,probably-damaging	257/399,257/405	25289111	17,12989	2203	4300	6503	25237111	SO:0001583	missense	26090	exon8			AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.769C>T	20.37:g.25289111G>A	ENSP00000341408:p.Arg257Trp	Somatic		Capture	SOLID	Phase_I	25237111	NM_001042472	A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	ENST00000339157.5	37	CCDS42857.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	21.9	4.213788	0.79352	2.27E-4	0.00186	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543	T;T	0.23147	1.92;1.92	4.68	4.68	0.58851	.	0.096172	0.64402	D	0.000001	T	0.53867	0.1823	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	P;D;P	0.81914	0.764;0.995;0.784	T	0.57871	-0.7736	10	0.66056	D	0.02	-17.6624	15.4303	0.75087	0.0:0.0:1.0:0.0	rs41306784	219;257;257	Q8N2K0-3;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	W	257;257;219	ENSP00000365725:R257W;ENSP00000341408:R257W	ENSP00000341408:R257W	R	-	1	2	ABHD12	25237111	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.043000	0.49823	2.884000	0.98904	0.655000	0.94253	CGG		0.537	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600	
BCL2L1	598	hgsc.bcm.edu	37	20	30309638	30309638	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:30309638A>G	ENST00000307677.4	-	2	794	c.384T>C	c.(382-384)aaT>aaC	p.N128N	BCL2L1_ENST00000420653.1_Silent_p.N128N|BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000376062.2_Silent_p.N128N	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	128					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.N128N(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GGAAGAGTTCATTCACTACCT	0.547																																					p.N128N	Colon(51;693 1004 1401 20431 21026)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T384C	20						.						172.0	166.0	168.0					20																	30309638		2203	4300	6503	29773299	SO:0001819	synonymous_variant	598	exon2			Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.384T>C	20.37:g.30309638A>G		Somatic		Capture	SOLID	Phase_I	29773299	NM_138578	E1P5L6|Q5CZ89|Q5TE65|Q92976	Silent	SNP	ENST00000307677.4	37	CCDS13189.1																																																																																				0.547	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578	
HCK	3055	hgsc.bcm.edu	37	20	30686841	30686841	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:30686841A>G	ENST00000520553.1	+	12	1464	c.1218A>G	c.(1216-1218)gaA>gaG	p.E406E	HCK_ENST00000518730.1_Silent_p.E405E|HCK_ENST00000538448.1_Silent_p.E406E|HCK_ENST00000534862.1_Silent_p.E407E|HCK_ENST00000375862.2_Silent_p.E426E|HCK_ENST00000375852.2_Silent_p.E427E	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	427	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.E427E(1)|p.E406E(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CAGCTCCTGAAGCCATCAACT	0.562																																					p.E406E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1218G	20						.						180.0	159.0	166.0					20																	30686841		2203	4300	6503	30150502	SO:0001819	synonymous_variant	3055	exon12			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1218A>G	20.37:g.30686841A>G		Somatic		Capture	SOLID	Phase_I	30150502	NM_001172129	A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	CCDS54455.1																																																																																				0.562	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1		
ATRN	8455	hgsc.bcm.edu	37	20	3543926	3543926	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:3543926G>A	ENST00000262919.5	+	10	1770	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	ATRN_ENST00000446916.2_Missense_Mutation_p.V568M	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	568					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.V568M(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AACCATGCTGGTGTTTGGAGG	0.408																																					p.V568M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1702A	20						.						182.0	150.0	161.0					20																	3543926		2203	4300	6503	3491926	SO:0001583	missense	8455	exon10			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1702G>A	20.37:g.3543926G>A	ENSP00000262919:p.Val568Met	Somatic		Capture	SOLID	Phase_I	3491926	NM_139322	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354275	0.82243	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.67523	-0.27;-0.27	5.32	5.32	0.75619	Kelch-type beta propeller (1);	0.056037	0.64402	D	0.000001	D	0.84759	0.5543	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.948	D	0.86886	0.2045	10	0.87932	D	0	-14.0878	18.7896	0.91968	0.0:0.0:1.0:0.0	.	568;568	O75882;O75882-2	ATRN_HUMAN;.	M	568;568;494	ENSP00000262919:V568M;ENSP00000416587:V568M	ENSP00000262919:V568M	V	+	1	0	ATRN	3491926	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.610000	0.82949	2.777000	0.95525	0.591000	0.81541	GTG		0.408	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321	
NFS1	9054	hgsc.bcm.edu	37	20	34262968	34262968	+	Splice_Site	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:34262968T>C	ENST00000374092.4	-	8	1017	c.947A>G	c.(946-948)gAg>gGg	p.E316G	NFS1_ENST00000541387.1_Splice_Site_p.E265G|NFS1_ENST00000374085.1_Splice_Site_p.E256G|NFS1_ENST00000540053.1_Splice_Site_p.E114G|NFS1_ENST00000498084.1_5'Flank|NFS1_ENST00000397425.1_Splice_Site_p.E256G|RP1-309K20.6_ENST00000541176.2_5'Flank	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	316					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.E316G(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	TCCCCATACCTCCATCTCTTG	0.607																																					p.E316G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A947G	20						.						71.0	72.0	72.0					20																	34262968		2203	4300	6503	33726382	SO:0001630	splice_region_variant	9054	exon8			AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.948+1A>G	20.37:g.34262968T>C		Somatic		Capture	SOLID	Phase_I	33726382	NM_021100	B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Missense_Mutation	SNP	ENST00000374092.4	37	CCDS13262.1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.640165	0.67244	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000540053;ENST00000541387	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	4.98	4.98	0.66077	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.047499	0.85682	D	0.000000	D	0.89677	0.6784	M	0.75777	2.31	0.80722	D	1	B;P	0.38473	0.036;0.633	B;P	0.46208	0.029;0.507	D	0.89792	0.3969	10	0.46703	T	0.11	-0.4043	14.8399	0.70214	0.0:0.0:0.0:1.0	.	265;316	F5GYK5;Q9Y697	.;NFS1_HUMAN	G	316;256;256;114;265	ENSP00000363205:E316G;ENSP00000363198:E256G;ENSP00000380570:E256G;ENSP00000438594:E114G;ENSP00000440897:E265G	ENSP00000363198:E256G	E	-	2	0	NFS1	33726382	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.433000	0.80362	2.087000	0.62958	0.460000	0.39030	GAG		0.607	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100	Missense_Mutation
CTNNBL1	56259	hgsc.bcm.edu	37	20	36385969	36385969	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:36385969A>T	ENST00000361383.6	+	5	592	c.475A>T	c.(475-477)Ata>Tta	p.I159L	CTNNBL1_ENST00000473857.1_Intron|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.I132L|CTNNBL1_ENST00000373473.1_Intron	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	159					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)	p.I159L(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACATGTGTCCATAGCTGTGGT	0.418																																					p.I159L	Ovarian(184;582 2038 3273 4106 42608)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A475T	20						.						190.0	164.0	173.0					20																	36385969		2203	4300	6503	35819383	SO:0001583	missense	56259	exon5			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.475A>T	20.37:g.36385969A>T	ENSP00000355050:p.Ile159Leu	Somatic		Capture	SOLID	Phase_I	35819383	NM_030877	B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459569	0.63401	.	.	ENSG00000132792	ENST00000361383;ENST00000447935;ENST00000405275	T;T;T	0.47869	0.86;0.83;0.86	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);Domain of unknown function DUF1716, eukaryotic (1);	0.379769	0.26859	N	0.022123	T	0.45696	0.1355	L	0.49699	1.58	0.80722	D	1	B	0.10296	0.003	B	0.20577	0.03	T	0.27640	-1.0068	10	0.34782	T	0.22	0.0629	15.6462	0.77055	1.0:0.0:0.0:0.0	.	159	Q8WYA6	CTBL1_HUMAN	L	159;132;132	ENSP00000355050:I159L;ENSP00000394464:I132L;ENSP00000384355:I132L	ENSP00000355050:I159L	I	+	1	0	CTNNBL1	35819383	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.705000	0.91357	2.371000	0.80710	0.533000	0.62120	ATA		0.418	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877	
CTNNBL1	56259	hgsc.bcm.edu	37	20	36407705	36407705	+	Silent	SNP	C	C	T	rs373840043		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:36407705C>T	ENST00000361383.6	+	10	1116	c.999C>T	c.(997-999)ggC>ggT	p.G333G	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Silent_p.G81G|CTNNBL1_ENST00000405275.2_Silent_p.G306G|CTNNBL1_ENST00000373473.1_Silent_p.G146G	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	333					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)	p.G333G(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCCTGAAGGGCGAGGGTCTTC	0.488																																					p.G333G	Ovarian(184;582 2038 3273 4106 42608)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C999T	20						.	C		0,4406		0,0,2203	219.0	181.0	194.0		999	-7.8	0.9	20		194	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CTNNBL1	NM_030877.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		333/564	36407705	1,13005	2203	4300	6503	35841119	SO:0001819	synonymous_variant	56259	exon10			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.999C>T	20.37:g.36407705C>T		Somatic		Capture	SOLID	Phase_I	35841119	NM_030877	B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Silent	SNP	ENST00000361383.6	37	CCDS13298.1																																																																																				0.488	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877	
TTI1	9675	hgsc.bcm.edu	37	20	36641569	36641569	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:36641569A>G	ENST00000373448.2	-	3	888	c.650T>C	c.(649-651)cTg>cCg	p.L217P	TTI1_ENST00000373447.3_Missense_Mutation_p.L217P|TTI1_ENST00000449821.1_Missense_Mutation_p.L217P|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	217					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.L217P(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAGCCTGGTCAGTGCAGTTGA	0.428																																					p.L217P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T650C	20						.						103.0	102.0	103.0					20																	36641569		2203	4300	6503	36074983	SO:0001583	missense	9675	exon3			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.650T>C	20.37:g.36641569A>G	ENSP00000362547:p.Leu217Pro	Somatic		Capture	SOLID	Phase_I	36074983	NM_014657	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.015495	0.54468	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.28666	1.6;1.6;1.6	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.136116	0.49305	D	0.000143	T	0.51143	0.1657	M	0.74881	2.28	0.80722	D	1	D	0.54964	0.969	P	0.57620	0.824	T	0.56044	-0.8044	10	0.87932	D	0	-19.2973	14.8657	0.70412	1.0:0.0:0.0:0.0	.	217	O43156	TTI1_HUMAN	P	217	ENSP00000362547:L217P;ENSP00000362546:L217P;ENSP00000407270:L217P	ENSP00000362546:L217P	L	-	2	0	TTI1	36074983	1.000000	0.71417	0.999000	0.59377	0.735000	0.41995	5.565000	0.67365	2.288000	0.76882	0.528000	0.53228	CTG		0.428	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657	
PLCG1	5335	hgsc.bcm.edu	37	20	39792626	39792626	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:39792626T>C	ENST00000373271.1	+	11	1481	c.1076T>C	c.(1075-1077)aTg>aCg	p.M359T	PLCG1_ENST00000373272.2_Missense_Mutation_p.M359T|PLCG1_ENST00000244007.3_Missense_Mutation_p.M359T	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	359	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.M359T(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TGCCTGCGGATGGGCTGTCGC	0.617																																					p.M359T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1076C	20						.						104.0	94.0	97.0					20																	39792626		2203	4300	6503	39226040	SO:0001583	missense	5335	exon11			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1076T>C	20.37:g.39792626T>C	ENSP00000362368:p.Met359Thr	Somatic		Capture	SOLID	Phase_I	39226040	NM_002660	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253392	0.80135	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.62232	0.04;0.04;0.04	5.06	5.06	0.68205	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	L	0.39566	1.225	0.80722	D	1	D;P	0.63046	0.992;0.885	D;P	0.66497	0.944;0.733	T	0.72411	-0.4302	10	0.54805	T	0.06	.	14.9787	0.71296	0.0:0.0:0.0:1.0	.	359;359	P19174;A2A284	PLCG1_HUMAN;.	T	359	ENSP00000244007:M359T;ENSP00000362368:M359T;ENSP00000362369:M359T	ENSP00000244007:M359T	M	+	2	0	PLCG1	39226040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.144000	0.71762	2.125000	0.65367	0.533000	0.62120	ATG		0.617	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
CHD6	84181	hgsc.bcm.edu	37	20	40045273	40045273	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:40045273T>C	ENST00000373233.3	-	33	6618	c.6441A>G	c.(6439-6441)gaA>gaG	p.E2147E	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2147					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.E2147E(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGAAGCTGTGTTCTGCTGCTT	0.582																																					p.E2147E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A6441G	20						.						94.0	84.0	87.0					20																	40045273		2203	4300	6503	39478687	SO:0001819	synonymous_variant	84181	exon33			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6441A>G	20.37:g.40045273T>C		Somatic		Capture	SOLID	Phase_I	39478687	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1																																																																																				0.582	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
CHD6	84181	hgsc.bcm.edu	37	20	40049349	40049349	+	Missense_Mutation	SNP	C	C	T	rs151164700	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:40049349C>T	ENST00000373233.3	-	31	6103	c.5926G>A	c.(5926-5928)Gcc>Acc	p.A1976T		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1976					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.A1976T(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCCTCCATGGCGATAGTATTG	0.438													C|||	15	0.00299521	0.0	0.0	5008	,	,		21409	0.0129		0.0	False		,,,				2504	0.002				p.A1976T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5926A	20						.						151.0	153.0	152.0					20																	40049349		2203	4300	6503	39482763	SO:0001583	missense	84181	exon31			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5926G>A	20.37:g.40049349C>T	ENSP00000362330:p.Ala1976Thr	Somatic		Capture	SOLID	Phase_I	39482763	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	0.004	-2.260110	0.00262	.	.	ENSG00000124177	ENST00000373233	D	0.85339	-1.97	6.07	-6.23	0.02052	.	0.508271	0.19572	N	0.111075	T	0.32526	0.0832	N	0.00197	-1.87	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.60791	-0.7193	10	0.08179	T	0.78	-0.2313	4.0231	0.09675	0.2331:0.4414:0.0921:0.2333	.	1976	Q8TD26	CHD6_HUMAN	T	1976	ENSP00000362330:A1976T	ENSP00000362330:A1976T	A	-	1	0	CHD6	39482763	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.037000	0.01420	-1.160000	0.02804	-0.302000	0.09304	GCC		0.438	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
UBE2C	11065	hgsc.bcm.edu	37	20	44444544	44444544	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:44444544A>C	ENST00000356455.4	+	5	593	c.473A>C	c.(472-474)aAc>aCc	p.N158T	UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000335046.3_Missense_Mutation_p.N140T|UBE2C_ENST00000372568.4_Missense_Mutation_p.N119T|UBE2C_ENST00000405520.1_Missense_Mutation_p.N119T|UBE2C_ENST00000243893.6_3'UTR|UBE2C_ENST00000352551.5_Missense_Mutation_p.N129T	NM_007019.2	NP_008950.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	158					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cyclin catabolic process (GO:0008054)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.N158T(1)		large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CTCTGGAAAAACCCCACAGGT	0.557																																					p.N119T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A356C	20						.						126.0	121.0	123.0					20																	44444544		2203	4300	6503	43877951	SO:0001583	missense	11065	exon5			U73379	CCDS13370.1, CCDS13371.1, CCDS13372.1, CCDS13374.1, CCDS74733.1, CCDS74734.1	20q13.12	2007-02-05			ENSG00000175063	ENSG00000175063		"""Ubiquitin-conjugating enzymes E2"""	15937	protein-coding gene	gene with protein product		605574				9122200	Standard	NM_007019		Approved	UBCH10	uc002xpm.3	O00762	OTTHUMG00000033038	ENST00000356455.4:c.473A>C	20.37:g.44444544A>C	ENSP00000348838:p.Asn158Thr	Somatic		Capture	SOLID	Phase_I	43877951	NM_181801	A6NP33|E1P5N7|G3XAB7	Missense_Mutation	SNP	ENST00000356455.4	37	CCDS13370.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457481	0.63401	.	.	ENSG00000175063	ENST00000356455;ENST00000405520;ENST00000335046;ENST00000352551;ENST00000372568	T;T;T;T;T	0.74421	1.05;1.05;0.67;-0.84;1.05	5.23	5.23	0.72850	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.102687	0.64402	D	0.000004	T	0.78729	0.4329	L	0.61036	1.89	0.53005	D	0.999969	B;B;B	0.31859	0.343;0.026;0.196	B;B;B	0.44224	0.444;0.067;0.121	T	0.79276	-0.1870	10	0.54805	T	0.06	-17.7198	13.9686	0.64225	1.0:0.0:0.0:0.0	.	129;158;140	A6NP33;O00762;G3XAB7	.;UBE2C_HUMAN;.	T	158;119;140;129;119	ENSP00000348838:N158T;ENSP00000385878:N119T;ENSP00000335674:N140T;ENSP00000333975:N129T;ENSP00000361649:N119T	ENSP00000335674:N140T	N	+	2	0	UBE2C	43877951	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.747000	0.91610	1.981000	0.57761	0.459000	0.35465	AAC		0.557	UBE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080309.2	NM_007019	
DDX27	55661	hgsc.bcm.edu	37	20	47838084	47838084	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:47838084G>A	ENST00000371764.4	+	2	291	c.282G>A	c.(280-282)acG>acA	p.T94T	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	94	Asp/Glu/Lys-rich.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.T94T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGAGGGGACGTACGATGGCA	0.527																																					p.T94T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G282A	20						.						114.0	89.0	97.0					20																	47838084		2203	4300	6503	47271491	SO:0001819	synonymous_variant	55661	exon2			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.282G>A	20.37:g.47838084G>A		Somatic		Capture	SOLID	Phase_I	47271491	NM_017895	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	CCDS13416.1																																																																																				0.527	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1		
TMEM189-UBE2V1	387522	hgsc.bcm.edu	37	20	48744559	48744559	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:48744559C>T	ENST00000341698.2	-	5	643	c.644G>A	c.(643-645)cGc>cAc	p.R215H	TMEM189_ENST00000557021.1_Missense_Mutation_p.R215H|TMEM189_ENST00000371650.5_Missense_Mutation_p.R212H|TMEM189_ENST00000371652.4_Missense_Mutation_p.R215H|TMEM189_ENST00000371656.2_Missense_Mutation_p.R140H	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough									p.R215H(2)		breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			GTGGTGGATGCGATGGTGTTT	0.607																																					p.R215H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G644A	20						.						253.0	149.0	184.0					20																	48744559		2203	4300	6503	48177966	SO:0001583	missense	387522	exon5			U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.644G>A	20.37:g.48744559C>T	ENSP00000344166:p.Arg215His	Somatic		Capture	SOLID	Phase_I	48177966	NM_199129		Missense_Mutation	SNP	ENST00000341698.2	37	CCDS13424.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424127	0.96111	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371656;ENST00000371652	T;T;T;T	0.55588	0.51;0.51;0.76;0.76	5.23	5.23	0.72850	Kua-ubiquitin conjugating enzyme hybrid, localisation (1);	0.000000	0.37906	U	0.001890	T	0.73690	0.3619	M	0.84219	2.685	0.42909	D	0.994252	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.80764	0.982;0.994;0.994;0.994	T	0.71414	-0.4600	10	0.17369	T	0.5	-11.8693	18.7976	0.92001	0.0:1.0:0.0:0.0	.	140;212;215;215	Q5TGE2;Q5TGE1;A5PLL7;G3V2F7	.;.;TM189_HUMAN;.	H	215;215;212;140;215	ENSP00000344166:R215H;ENSP00000450635:R215H;ENSP00000360713:R212H;ENSP00000360715:R215H	ENSP00000360713:R212H	R	-	2	0	TMEM189-UBE2V1;TMEM189	48177966	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.442000	0.80503	2.411000	0.81874	0.563000	0.77884	CGC		0.607	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5		
PTPN1	5770	hgsc.bcm.edu	37	20	49127072	49127072	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:49127072T>C	ENST00000371621.3	+	1	182	c.8T>C	c.(7-9)aTg>aCg	p.M3T	PTPN1_ENST00000541713.1_5'UTR	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	3	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)	p.M3T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	GTCATGGAGATGGAAAAGGAG	0.706																																					p.M3T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T8C	20						.						33.0	27.0	29.0					20																	49127072		2007	3879	5886	48560479	SO:0001583	missense	5770	exon1				CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.8T>C	20.37:g.49127072T>C	ENSP00000360683:p.Met3Thr	Somatic		Capture	SOLID	Phase_I	48560479	NM_002827	Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793357	0.70452	.	.	ENSG00000196396	ENST00000371621	T	0.03330	3.97	4.22	4.22	0.49857	Protein-tyrosine phosphatase, receptor/non-receptor type (1);	0.132704	0.33895	U	0.004452	T	0.15782	0.0380	M	0.83953	2.67	0.80722	D	1	B	0.33940	0.433	P	0.52823	0.71	T	0.00158	-1.1976	10	0.87932	D	0	.	9.6205	0.39719	0.0:0.0:0.0:1.0	.	3	P18031	PTN1_HUMAN	T	3	ENSP00000360683:M3T	ENSP00000360683:M3T	M	+	2	0	PTPN1	48560479	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.504000	0.53347	1.763000	0.52060	0.260000	0.18958	ATG		0.706	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2		
NELFCD	51497	hgsc.bcm.edu	37	20	57569720	57569720	+	Missense_Mutation	SNP	A	A	G	rs138548641		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:57569720A>G	ENST00000344018.3	+	15	1789	c.1762A>G	c.(1762-1764)Atg>Gtg	p.M588V	NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000602795.1_Missense_Mutation_p.M597V			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	588					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|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)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)		p.M588V(1)									TAACTTCATCATGGTGAACTA	0.383																																					p.M588V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1762G	20						.	A	VAL/MET	1,4405	2.1+/-5.4	0,1,2202	119.0	115.0	117.0		1762	1.8	1.0	20	dbSNP_134	117	0,8600		0,0,4300	no	missense	TH1L	NM_198976.1	21	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	588/591	57569720	1,13005	2203	4300	6503	57003115	SO:0001583	missense	51497	exon15			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.1762A>G	20.37:g.57569720A>G	ENSP00000342300:p.Met588Val	Somatic		Capture	SOLID	Phase_I	57003115	NM_198976	B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37		.	.	.	.	.	.	.	.	.	.	A	1.810	-0.475019	0.04414	2.27E-4	0.0	ENSG00000101158	ENST00000344018	.	.	.	5.15	1.77	0.24775	.	0.085942	0.85682	N	0.000000	T	0.09642	0.0237	N	0.00926	-1.1	0.36649	D	0.877296	B	0.11235	0.004	B	0.09377	0.004	T	0.26815	-1.0092	9	0.02654	T	1	-28.348	1.9695	0.03402	0.5448:0.1821:0.1598:0.1132	.	588	Q8IXH7	NELFD_HUMAN	V	588	.	ENSP00000342300:M588V	M	+	1	0	TH1L	57003115	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.443000	0.35057	0.133000	0.18654	0.460000	0.39030	ATG		0.383	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976	
SLC52A3	113278	hgsc.bcm.edu	37	20	745974	745974	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:745974C>T	ENST00000217254.7	-	2	686	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	SLC52A3_ENST00000381944.3_Missense_Mutation_p.G149S|SLC52A3_ENST00000473664.1_5'UTR	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	149					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)	p.G149S(1)									GGCAAGAGGCCGCTGAGTCCT	0.607																																					p.G149S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G445A	20						.						69.0	63.0	65.0					20																	745974		2203	4300	6503	693974	SO:0001583	missense	113278	exon2			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.445G>A	20.37:g.745974C>T	ENSP00000217254:p.Gly149Ser	Somatic		Capture	SOLID	Phase_I	693974	NM_033409	A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729782	0.89390	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.81163	-1.46;-1.46	5.65	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.83459	0.5259	L	0.52011	1.625	0.80722	D	1	D;D	0.71674	0.998;0.993	P;B	0.58873	0.847;0.309	T	0.81473	-0.0917	10	0.29301	T	0.29	-28.6977	13.4443	0.61131	0.0:0.924:0.0:0.076	.	149;149	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	S	149	ENSP00000217254:G149S;ENSP00000371370:G149S	ENSP00000217254:G149S	G	-	1	0	C20orf54	693974	1.000000	0.71417	0.881000	0.34555	0.898000	0.52572	6.040000	0.70980	1.405000	0.46838	0.561000	0.74099	GGC		0.607	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409	
DIDO1	11083	hgsc.bcm.edu	37	20	61523414	61523414	+	Silent	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr20:61523414T>G	ENST00000266070.4	-	14	3595	c.3270A>C	c.(3268-3270)acA>acC	p.T1090T	DIDO1_ENST00000395335.2_Silent_p.T1090T|DIDO1_ENST00000395343.1_Silent_p.T1090T|DIDO1_ENST00000395340.1_Silent_p.T1090T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1090					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T1090T(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CAATGTGAATTGTGTCAGGCA	0.423																																					p.T1090T	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3270C	20						.						104.0	90.0	94.0					20																	61523414		2203	4300	6503	60993859	SO:0001819	synonymous_variant	11083	exon14			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3270A>C	20.37:g.61523414T>G		Somatic		Capture	SOLID	Phase_I	60993859	NM_001193370	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	CCDS33506.1																																																																																				0.423	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
RNASE2	6036	hgsc.bcm.edu	37	14	21424393	21424393	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:21424393G>T	ENST00000304625.2	+	2	553	c.463G>T	c.(463-465)Gtt>Ttt	p.V155F		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	155					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)	p.V155F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		GGTGGTTCCAGTTCACCTGGA	0.468																																					p.V155F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G463T	14						.						131.0	127.0	128.0					14																	21424393		2203	4300	6503	20494233	SO:0001583	missense	6036	exon2			X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.463G>T	14.37:g.21424393G>T	ENSP00000303276:p.Val155Phe	Somatic		Capture	SOLID	Phase_I	20494233	NM_002934	Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	g	15.63	2.889221	0.52014	.	.	ENSG00000169385	ENST00000304625	T	0.20200	2.09	3.02	3.02	0.34903	Ribonuclease A, domain (4);	0.000000	0.53938	U	0.000051	T	0.52273	0.1724	M	0.93150	3.385	0.25440	N	0.988105	D	0.89917	1.0	D	0.97110	1.0	T	0.47886	-0.9082	10	0.87932	D	0	.	9.7253	0.40328	0.0:0.0:1.0:0.0	.	155	P10153	RNAS2_HUMAN	F	155	ENSP00000303276:V155F	ENSP00000303276:V155F	V	+	1	0	RNASE2	20494233	0.942000	0.31987	0.443000	0.26883	0.036000	0.12997	3.360000	0.52299	1.985000	0.57927	0.455000	0.32223	GTT		0.468	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2		
SLC39A2	29986	hgsc.bcm.edu	37	14	21469568	21469568	+	Missense_Mutation	SNP	C	C	T	rs554255537		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:21469568C>T	ENST00000298681.4	+	4	917	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	254					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.R254W(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TGAAGGAGGGCGGGGCTTAGC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		19180	0.001		0.0	False		,,,				2504	0.0				p.R254W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C760T	14						.						100.0	104.0	103.0					14																	21469568		2203	4300	6503	20539408	SO:0001583	missense	29986	exon4			AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.760C>T	14.37:g.21469568C>T	ENSP00000298681:p.Arg254Trp	Somatic		Capture	SOLID	Phase_I	20539408	NM_014579	B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	C	4.075	0.011880	0.07912	.	.	ENSG00000165794	ENST00000298681	T	0.49432	0.78	5.8	0.974	0.19715	.	1.011940	0.07933	N	0.977870	T	0.38054	0.1026	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37150	-0.9718	10	0.66056	D	0.02	-0.0097	5.4735	0.16682	0.2814:0.5404:0.0:0.1783	.	254	Q9NP94	S39A2_HUMAN	W	254	ENSP00000298681:R254W	ENSP00000298681:R254W	R	+	1	2	SLC39A2	20539408	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.469000	0.06648	0.263000	0.21812	-0.137000	0.14449	CGG		0.572	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579	
NFKBIA	4792	hgsc.bcm.edu	37	14	35871225	35871225	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:35871225C>T	ENST00000216797.5	-	6	1049	c.948G>A	c.(946-948)acG>acA	p.T316T	NFKBIA_ENST00000557100.1_5'Flank|NFKBIA_ENST00000557389.1_Silent_p.T226T|NFKBIA_ENST00000557140.1_Silent_p.T273T	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	316					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.T316T(1)		breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	GCGCTCATAACGTCAGACGCT	0.393																																					p.T316T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G948A	14						.						92.0	98.0	96.0					14																	35871225		2203	4300	6503	34940976	SO:0001819	synonymous_variant	4792	exon6				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.948G>A	14.37:g.35871225C>T		Somatic		Capture	SOLID	Phase_I	34940976	NM_020529	B2R8L6	Silent	SNP	ENST00000216797.5	37	CCDS9656.1																																																																																				0.393	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529	
FOXA1	3169	hgsc.bcm.edu	37	14	38061279	38061279	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:38061279T>A	ENST00000250448.2	-	2	771	c.710A>T	c.(709-711)aAg>aTg	p.K237M	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.K204M	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	237					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K237M(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTTGCCCGGCTTGTCCGGGGA	0.617																																					p.K237M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A710T	14						.						40.0	39.0	39.0					14																	38061279		2203	4300	6503	37131030	SO:0001583	missense	3169	exon2			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.710A>T	14.37:g.38061279T>A	ENSP00000250448:p.Lys237Met	Somatic		Capture	SOLID	Phase_I	37131030	NM_004496	B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.939507	0.73557	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95788	-3.81;-3.81	4.0	2.83	0.33086	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.054705	0.64402	D	0.000001	D	0.96765	0.8944	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95713	0.8759	10	0.87932	D	0	.	8.4243	0.32720	0.0:0.098:0.0:0.902	.	237	P55317	FOXA1_HUMAN	M	237;204	ENSP00000250448:K237M;ENSP00000440178:K204M	ENSP00000250448:K237M	K	-	2	0	FOXA1	37131030	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.761000	0.85260	0.586000	0.29626	0.329000	0.21502	AAG		0.617	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1		
GEMIN2	8487	hgsc.bcm.edu	37	14	39597532	39597533	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	AG	AG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:39597532_39597533delAG	ENST00000308317.6	+	7	696_697	c.613_614delAG	c.(613-615)agafs	p.R205fs	GEMIN2_ENST00000250379.8_Frame_Shift_Del_p.R190fs|GEMIN2_ENST00000396249.2_Frame_Shift_Del_p.R205fs	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	205					gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)		p.D206fs*17(1)									GTTTGGAGAAAGAGACTTTACT	0.347																																					p.205_205del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.613_614del	14						.																																			38667284	SO:0001589	frameshift_variant	8487	exon7			AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"""survival of motor neuron protein interacting protein 1"""	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.613_614delAG	14.37:g.39597534_39597535delAG	ENSP00000308533:p.Arg205fs	Somatic		Capture	SOLID	Phase_I	38667283	NM_001009183	B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Frame_Shift_Del	DEL	ENST00000308317.6	37	CCDS9669.1																																																																																				0.347	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276730.2		
FANCM	57697	hgsc.bcm.edu	37	14	45618123	45618123	+	Silent	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:45618123T>G	ENST00000267430.5	+	4	928	c.843T>G	c.(841-843)tcT>tcG	p.S281S	FANCM_ENST00000556036.1_Silent_p.S281S|FANCM_ENST00000542564.2_Silent_p.S255S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	281					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.S281S(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						TGACATATTCTCATGAAAGAA	0.358								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.S281S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T843G	14						.						70.0	70.0	70.0					14																	45618123		2203	4300	6503	44687873	SO:0001819	synonymous_variant	57697	exon4	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.843T>G	14.37:g.45618123T>G		Somatic		Capture	SOLID	Phase_I	44687873	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	CCDS32070.1																																																																																				0.358	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
PPM1A	5494	hgsc.bcm.edu	37	14	60756567	60756567	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:60756567T>C	ENST00000395076.4	+	4	1426	c.996T>C	c.(994-996)caT>caC	p.H332H	PPM1A_ENST00000325642.3_Silent_p.H405H|PPM1A_ENST00000529574.1_Silent_p.H332H	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	332					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)	p.H332H(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		ACTTAGTCCATGTGATGCGCA	0.423																																					p.H332H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T996C	14						.						66.0	65.0	66.0					14																	60756567		2203	4300	6503	59826320	SO:0001819	synonymous_variant	5494	exon4			S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.996T>C	14.37:g.60756567T>C		Somatic		Capture	SOLID	Phase_I	59826320	NM_021003	B5BU11|J3KNM0|O75551	Silent	SNP	ENST00000395076.4	37	CCDS9744.1																																																																																				0.423	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003	
PPP2R5E	5529	hgsc.bcm.edu	37	14	63888723	63888723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:63888723C>T	ENST00000337537.3	-	4	1046	c.444G>A	c.(442-444)tgG>tgA	p.W148*	PPP2R5E_ENST00000422769.2_Nonsense_Mutation_p.W72*|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Nonsense_Mutation_p.W148*	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	148					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.W148*(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)		GTAAGTGTGGCCACGATGCCT	0.373																																					p.W148X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G444A	14						.						133.0	113.0	120.0					14																	63888723		2203	4300	6503	62958476	SO:0001587	stop_gained	5529	exon4			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.444G>A	14.37:g.63888723C>T	ENSP00000337641:p.Trp148*	Somatic		Capture	SOLID	Phase_I	62958476	NM_006246	A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Nonsense_Mutation	SNP	ENST00000337537.3	37	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	C	43	10.335677	0.99385	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5836	18.1642	0.89719	0.0:1.0:0.0:0.0	.	.	.	.	X	148;148;72	.	ENSP00000337641:W148X	W	-	3	0	PPP2R5E	62958476	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.746000	0.85057	2.578000	0.87016	0.655000	0.94253	TGG		0.373	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246	
ZBTB1	22890	hgsc.bcm.edu	37	14	64988389	64988389	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:64988389A>G	ENST00000554015.1	+	4	598	c.167A>G	c.(166-168)cAt>cGt	p.H56R	ZBTB1_ENST00000394712.2_Missense_Mutation_p.H56R|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000358738.3_Missense_Mutation_p.H56R			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	56	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.H56R(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		TTCATGAACCATCAGCATAGT	0.358																																					p.H56R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A167G	14						.						103.0	97.0	99.0					14																	64988389		2203	4300	6503	64058142	SO:0001583	missense	22890	exon2			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.167A>G	14.37:g.64988389A>G	ENSP00000451000:p.His56Arg	Somatic		Capture	SOLID	Phase_I	64058142	NM_014950	A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939169	0.73557	.	.	ENSG00000126804	ENST00000553583;ENST00000556965;ENST00000554015;ENST00000358738;ENST00000394712	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	6.03	6.03	0.97812	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.080151	0.53938	D	0.000053	T	0.62588	0.2440	N	0.25890	0.77	0.54753	D	0.999982	B;B	0.34181	0.386;0.44	B;B	0.35114	0.124;0.196	T	0.66126	-0.6001	10	0.87932	D	0	-23.9266	16.5724	0.84622	1.0:0.0:0.0:0.0	.	56;56	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	R	56	ENSP00000451584:H56R;ENSP00000450689:H56R;ENSP00000451000:H56R;ENSP00000351587:H56R;ENSP00000378201:H56R	ENSP00000351587:H56R	H	+	2	0	ZBTB1	64058142	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.313000	0.78055	0.455000	0.32223	CAT		0.358	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1		
GPHN	10243	hgsc.bcm.edu	37	14	67578599	67578599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:67578599C>T	ENST00000315266.5	+	14	2457	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	GPHN_ENST00000478722.1_Nonsense_Mutation_p.R479*|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Nonsense_Mutation_p.R415*|GPHN_ENST00000543237.1_Nonsense_Mutation_p.R492*	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	446	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|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)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.R479*(3)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ACTTGAAGTGCGAATTCTGGT	0.383			T	MLL	AL																																p.R446X			Dom	yes		14	14q24	10243	gephyrin (GPH)		L	.	.	3	Substitution - Nonsense(3)	large_intestine(2)|endometrium(1)	c.C1336T	14						.						80.0	84.0	83.0					14																	67578599		2203	4300	6503	66648352	SO:0001587	stop_gained	10243	exon14			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1336C>T	14.37:g.67578599C>T	ENSP00000312771:p.Arg446*	Somatic		Capture	SOLID	Phase_I	66648352	NM_001024218	Q9H4E9|Q9P2G2	Nonsense_Mutation	SNP	ENST00000315266.5	37	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	C	39	7.860533	0.98531	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960	.	.	.	5.07	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3156	14.435	0.67274	0.1489:0.8511:0.0:0.0	.	.	.	.	X	446;479;492;415	.	ENSP00000303019:R415X	R	+	1	2	GPHN	66648352	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.070000	0.71220	1.089000	0.41292	0.655000	0.94253	CGA		0.383	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806	
RDH12	145226	hgsc.bcm.edu	37	14	68193709	68193709	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:68193709C>A	ENST00000551171.1	+	7	784	c.460C>A	c.(460-462)Ctc>Atc	p.L154I	RDH12_ENST00000539142.1_Missense_Mutation_p.L154I|RDH12_ENST00000267502.3_Missense_Mutation_p.L154I	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	154					photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)	p.L154I(1)		large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CCACTTCCTCCTCACCTACCT	0.567																																					p.L154I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C460A	14						.						59.0	54.0	56.0					14																	68193709		2203	4300	6503	67263462	SO:0001583	missense	145226	exon7			AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19977	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 2"""	608830	"""retinol dehydrogenase 12 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.460C>A	14.37:g.68193709C>A	ENSP00000449079:p.Leu154Ile	Somatic		Capture	SOLID	Phase_I	67263462	NM_152443	B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	37	CCDS9787.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268399	0.80469	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.91945	-2.94;-2.94;-2.94	5.66	5.66	0.87406	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96015	0.8702	M	0.87617	2.895	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	D	0.96028	0.9014	10	0.87932	D	0	.	10.803	0.46500	0.0:0.8857:0.0:0.1143	.	154	Q96NR8	RDH12_HUMAN	I	154	ENSP00000449079:L154I;ENSP00000267502:L154I;ENSP00000438715:L154I	ENSP00000267502:L154I	L	+	1	0	RDH12	67263462	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	0.834000	0.27518	2.671000	0.90904	0.655000	0.94253	CTC		0.567	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1		
DCAF5	8816	hgsc.bcm.edu	37	14	69520792	69520792	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:69520792T>C	ENST00000341516.5	-	9	2758	c.2611A>G	c.(2611-2613)Aac>Gac	p.N871D	DCAF5_ENST00000557386.1_Missense_Mutation_p.N870D|DCAF5_ENST00000554215.1_Missense_Mutation_p.N789D|DCAF5_ENST00000556847.1_Missense_Mutation_p.N789D|DCAF5_ENST00000553293.1_5'Flank	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	871					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)		p.N871D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AGGGACGAGTTATCACGGTCA	0.572																																					p.N871D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2611G	14						.						104.0	93.0	97.0					14																	69520792		2203	4300	6503	68590545	SO:0001583	missense	8816	exon9			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2611A>G	14.37:g.69520792T>C	ENSP00000341351:p.Asn871Asp	Somatic		Capture	SOLID	Phase_I	68590545	NM_003861	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284644	0.40394	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.69685	-0.42;-0.25;-0.25;0.22	5.09	5.09	0.68999	.	0.084933	0.50627	D	0.000111	T	0.53802	0.1819	N	0.24115	0.695	0.80722	D	1	B;B	0.25609	0.13;0.079	B;B	0.21360	0.034;0.015	T	0.55661	-0.8106	10	0.62326	D	0.03	-15.9943	15.0356	0.71744	0.0:0.0:0.0:1.0	.	870;871	G3V4J7;Q96JK2	.;DCAF5_HUMAN	D	871;789;789;870	ENSP00000341351:N871D;ENSP00000451551:N789D;ENSP00000452052:N789D;ENSP00000451845:N870D	ENSP00000341351:N871D	N	-	1	0	DCAF5	68590545	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	4.331000	0.59273	2.139000	0.66308	0.459000	0.35465	AAC		0.572	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861	
PCNX	22990	hgsc.bcm.edu	37	14	71443978	71443978	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:71443978T>C	ENST00000304743.2	+	6	1370	c.924T>C	c.(922-924)cgT>cgC	p.R308R	PCNX_ENST00000238570.5_Silent_p.R308R|PCNX_ENST00000439984.3_Silent_p.R308R	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	308						integral component of membrane (GO:0016021)		p.R308R(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)		AGCAAAGACGTGGATTAGATC	0.458																																					p.R308R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T924C	14						.						92.0	87.0	89.0					14																	71443978		2203	4300	6503	70513731	SO:0001819	synonymous_variant	22990	exon6			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.924T>C	14.37:g.71443978T>C		Somatic		Capture	SOLID	Phase_I	70513731	NM_014982	B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	CCDS9806.1																																																																																				0.458	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
SIPA1L1	26037	hgsc.bcm.edu	37	14	72190526	72190526	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:72190526C>T	ENST00000555818.1	+	16	4782	c.4434C>T	c.(4432-4434)ggC>ggT	p.G1478G	SIPA1L1_ENST00000537413.1_Silent_p.G932G|SIPA1L1_ENST00000358550.2_Silent_p.G1457G|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Silent_p.G1457G	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1478	Ser-rich.				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.G1478G(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)		CTCGCCAGGGCGCTACTAGCA	0.507																																					p.G1478G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4434T	14						.						113.0	117.0	116.0					14																	72190526		2203	4300	6503	71260279	SO:0001819	synonymous_variant	26037	exon16			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.4434C>T	14.37:g.72190526C>T		Somatic		Capture	SOLID	Phase_I	71260279	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	CCDS9807.1																																																																																				0.507	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
VIPAS39	63894	hgsc.bcm.edu	37	14	77902258	77902258	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:77902258G>A	ENST00000553888.1	-	13	1351	c.841C>T	c.(841-843)Cca>Tca	p.P281S	VIPAS39_ENST00000448935.2_Missense_Mutation_p.P232S|VIPAS39_ENST00000556412.1_Missense_Mutation_p.P307S|VIPAS39_ENST00000327028.4_Missense_Mutation_p.P268S|VIPAS39_ENST00000343765.2_Missense_Mutation_p.P281S|VIPAS39_ENST00000557658.1_Missense_Mutation_p.P281S	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	281					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.P281S(1)									GCTGAAAATGGCAAACTGGTA	0.423																																					p.P281S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C841T	14						.						204.0	178.0	187.0					14																	77902258		2203	4300	6503	76972011	SO:0001583	missense	63894	exon14			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.841C>T	14.37:g.77902258G>A	ENSP00000452181:p.Pro281Ser	Somatic		Capture	SOLID	Phase_I	76972011	NM_022067	B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556944	0.45590	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.47469	0.1447	L	0.56769	1.78	0.80722	D	1	B;B	0.22003	0.028;0.063	B;B	0.18263	0.021;0.018	T	0.36915	-0.9728	10	0.22109	T	0.4	-11.9391	13.0382	0.58885	0.079:0.0:0.921:0.0	.	232;281	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	S	281;281;268;281;232;307	ENSP00000339122:P281S;ENSP00000452181:P281S;ENSP00000313098:P268S;ENSP00000452191:P281S;ENSP00000404815:P232S;ENSP00000451857:P307S	ENSP00000313098:P268S	P	-	1	0	VIPAR	76972011	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.552000	0.82192	2.583000	0.87209	0.650000	0.86243	CCA		0.423	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067	
ADCK1	57143	hgsc.bcm.edu	37	14	78392108	78392108	+	Splice_Site	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:78392108T>C	ENST00000238561.5	+	9	1109	c.1010T>C	c.(1009-1011)aTg>aCg	p.M337T	ADCK1_ENST00000341211.5_Splice_Site_p.M269T|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	344	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.M269T(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)		CCACCCTAGATGCTCACGGAA	0.582																																					p.M269T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T806C	14						.						54.0	55.0	54.0					14																	78392108		2203	4300	6503	77461861	SO:0001630	splice_region_variant	57143	exon8			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.1009-1T>C	14.37:g.78392108T>C		Somatic		Capture	SOLID	Phase_I	77461861	NM_001142545	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	T	2.312	-0.357717	0.05138	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.51071	0.72;0.72	5.26	4.11	0.48088	Protein kinase-like domain (1);	0.239462	0.42172	D	0.000742	T	0.16085	0.0387	N	0.00521	-1.4	0.33057	D	0.533557	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.10989	-1.0606	10	0.20519	T	0.43	-25.4368	10.9757	0.47465	0.0:0.0738:0.0:0.9262	.	344;269;337	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	T	337;269	ENSP00000238561:M337T;ENSP00000339663:M269T	ENSP00000238561:M337T	M	+	2	0	ADCK1	77461861	1.000000	0.71417	0.999000	0.59377	0.249000	0.25844	3.154000	0.50693	0.842000	0.35045	0.523000	0.50628	ATG		0.582	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421	Missense_Mutation
TSHR	7253	hgsc.bcm.edu	37	14	81609919	81609919	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:81609919A>G	ENST00000541158.2	+	11	1839	c.1517A>G	c.(1516-1518)gAg>gGg	p.E506G	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.E506G			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	506					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.E506G(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTTGCAAGCGAGTTATCGGTG	0.567			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																														p.E506G		yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1517G	14						.						558.0	396.0	451.0					14																	81609919		2203	4300	6503	80679672	SO:0001583	missense	7253	exon10			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1517A>G	14.37:g.81609919A>G	ENSP00000441235:p.Glu506Gly	Somatic		Capture	SOLID	Phase_I	80679672	NM_000369	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846638	0.51164	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.90955	-2.76;-2.76	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.97228	0.9094	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98776	1.0730	10	0.87932	D	0	.	15.5269	0.75919	1.0:0.0:0.0:0.0	.	506	F5GYU5	.	G	506;153;506	ENSP00000441235:E506G;ENSP00000298171:E506G	ENSP00000298171:E506G	E	+	2	0	TSHR	80679672	1.000000	0.71417	0.876000	0.34364	0.094000	0.18550	9.339000	0.96797	2.071000	0.62044	0.459000	0.35465	GAG		0.567	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	
KCNK10	54207	hgsc.bcm.edu	37	14	88654352	88654352	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:88654352C>T	ENST00000340700.5	-	6	1406	c.955G>A	c.(955-957)Gga>Aga	p.G319R	KCNK10_ENST00000319231.5_Missense_Mutation_p.G324R|KCNK10_ENST00000312350.5_Missense_Mutation_p.G324R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	319					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G324R(1)|p.G319R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGCCAATCTCCGATCATACTG	0.483																																					p.G324R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G970A	14						.						146.0	146.0	146.0					14																	88654352		2203	4300	6503	87724105	SO:0001583	missense	54207	exon6			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.955G>A	14.37:g.88654352C>T	ENSP00000343104:p.Gly319Arg	Somatic		Capture	SOLID	Phase_I	87724105	NM_138317	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237031	0.95240	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.34472	1.36;1.36;1.36	5.82	5.82	0.92795	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.991;0.995	T	0.68432	-0.5410	10	0.54805	T	0.06	.	19.0811	0.93182	0.0:1.0:0.0:0.0	.	319;324;324	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	R	319;324;324	ENSP00000343104:G319R;ENSP00000310568:G324R;ENSP00000312811:G324R	ENSP00000310568:G324R	G	-	1	0	KCNK10	87724105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.756000	0.94617	0.561000	0.74099	GGA		0.483	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161	
RPS6KA5	9252	hgsc.bcm.edu	37	14	91341641	91341641	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:91341641C>T	ENST00000261991.3	-	15	2073	c.1900G>A	c.(1900-1902)Gcg>Acg	p.A634T	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.A555T	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	634	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A634T(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ATTTCCACCGCGCTGGTACAC	0.418																																					p.A634T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1900A	14						.						78.0	80.0	79.0					14																	91341641		2203	4300	6503	90411394	SO:0001583	missense	9252	exon15			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1900G>A	14.37:g.91341641C>T	ENSP00000261991:p.Ala634Thr	Somatic		Capture	SOLID	Phase_I	90411394	NM_004755	O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071965	0.76301	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.65916	-0.18;-0.18	5.43	5.43	0.79202	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	0.43942	0.1270	N	0.05351	-0.065	0.80722	D	1	P	0.35872	0.525	B	0.30716	0.119	T	0.48445	-0.9035	10	0.44086	T	0.13	.	19.5907	0.95509	0.0:1.0:0.0:0.0	.	634	O75582	KS6A5_HUMAN	T	634;555	ENSP00000261991:A634T;ENSP00000442803:A555T	ENSP00000261991:A634T	A	-	1	0	RPS6KA5	90411394	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.772000	0.85439	2.696000	0.92011	0.561000	0.74099	GCG		0.418	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755	
BTBD7	55727	hgsc.bcm.edu	37	14	93708726	93708726	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:93708726C>A	ENST00000334746.5	-	11	3599	c.3292G>T	c.(3292-3294)Ggc>Tgc	p.G1098C	BTBD7_ENST00000393170.2_Missense_Mutation_p.G672C|BTBD7_ENST00000554565.1_Missense_Mutation_p.G747C	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1098					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.G1098C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTCCATGGCCCAGGGACTCA	0.498																																					p.G1098C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3292T	14						.						108.0	100.0	102.0					14																	93708726		2203	4300	6503	92778479	SO:0001583	missense	55727	exon11			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.3292G>T	14.37:g.93708726C>A	ENSP00000335615:p.Gly1098Cys	Somatic		Capture	SOLID	Phase_I	92778479	NM_001002860	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594169	0.66219	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.51574	1.02;0.7	6.05	5.17	0.71159	.	0.246295	0.48767	D	0.000173	T	0.42177	0.1191	N	0.08118	0	0.50313	D	0.999867	D;D;P	0.57257	0.979;0.963;0.927	P;P;P	0.53593	0.73;0.621;0.498	T	0.53961	-0.8364	10	0.87932	D	0	.	15.3142	0.74059	0.0:0.9334:0.0:0.0666	.	672;747;1098	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	C	1098;747;713;672	ENSP00000335615:G1098C;ENSP00000451010:G747C	ENSP00000335615:G1098C	G	-	1	0	BTBD7	92778479	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	2.848000	0.48278	1.582000	0.49881	0.655000	0.94253	GGC		0.498	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860	
ASB2	51676	hgsc.bcm.edu	37	14	94401050	94401050	+	Silent	SNP	C	C	T	rs370537668		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:94401050C>T	ENST00000315988.4	-	8	2204	c.1716G>A	c.(1714-1716)ccG>ccA	p.P572P	ASB2_ENST00000555019.1_Silent_p.P620P	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	572	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.P572P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGCCTGGGAGCGGCAAGGTGT	0.517																																					p.P572P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1716A	14						.	C	,	0,4406		0,0,2203	105.0	106.0	106.0		1860,1716	-10.3	0.2	14		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ASB2	NM_001202429.1,NM_016150.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	620/636,572/588	94401050	1,13005	2203	4300	6503	93470803	SO:0001819	synonymous_variant	51676	exon8			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1716G>A	14.37:g.94401050C>T		Somatic		Capture	SOLID	Phase_I	93470803	NM_016150	B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	CCDS9915.1																																																																																				0.517	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1		
ASB2	51676	hgsc.bcm.edu	37	14	94413755	94413755	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:94413755T>C	ENST00000315988.4	-	5	1336	c.848A>G	c.(847-849)aAc>aGc	p.N283S	ASB2_ENST00000555019.1_Missense_Mutation_p.N331S|MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	283					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.N283S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GTTGGTCTTGTTGGCGTCGGC	0.622																																					p.N283S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A848G	14						.						208.0	162.0	178.0					14																	94413755		2203	4300	6503	93483508	SO:0001583	missense	51676	exon5			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.848A>G	14.37:g.94413755T>C	ENSP00000320675:p.Asn283Ser	Somatic		Capture	SOLID	Phase_I	93483508	NM_016150	B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.723377	0.89298	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.72725	2.15;2.15;-0.68	5.19	5.19	0.71726	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	L	0.53617	1.68	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.995;0.996;0.993	T	0.83160	-0.0099	10	0.87932	D	0	-18.9084	15.0519	0.71881	0.0:0.0:0.0:1.0	.	299;331;283	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	S	331;299;283;229;229	ENSP00000451575:N331S;ENSP00000320675:N283S;ENSP00000450940:N229S	ENSP00000320675:N283S	N	-	2	0	ASB2	93483508	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.040000	0.89188	1.957000	0.56846	0.379000	0.24179	AAC		0.622	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1		
WDR25	79446	hgsc.bcm.edu	37	14	100847302	100847302	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:100847302C>T	ENST00000335290.6	+	2	267	c.41C>T	c.(40-42)gCg>gTg	p.A14V	WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000554175.1_Missense_Mutation_p.A14V|WDR25_ENST00000554998.1_Missense_Mutation_p.A14V|WDR25_ENST00000402312.3_Missense_Mutation_p.A14V	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	14								p.A14V(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TCATTGGTAGCGTATGATGAT	0.478																																					p.A14V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C41T	14						.						109.0	94.0	99.0					14																	100847302		2203	4300	6503	99917055	SO:0001583	missense	79446	exon2			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.41C>T	14.37:g.100847302C>T	ENSP00000334148:p.Ala14Val	Somatic		Capture	SOLID	Phase_I	99917055	NM_001161476	A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979132	0.53827	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	T;T;T;T	0.68624	-0.34;-0.34;-0.34;1.6	5.53	3.54	0.40534	.	0.381500	0.22264	N	0.062367	T	0.55257	0.1909	M	0.61703	1.905	0.80722	D	1	P	0.47106	0.89	B	0.37650	0.255	T	0.61992	-0.6948	10	0.66056	D	0.02	-18.9426	4.248	0.10680	0.1593:0.5995:0.1542:0.087	.	14	Q64LD2	WDR25_HUMAN	V	14	ENSP00000450661:A14V;ENSP00000385540:A14V;ENSP00000334148:A14V;ENSP00000450727:A14V	ENSP00000334148:A14V	A	+	2	0	WDR25	99917055	0.972000	0.33761	0.986000	0.45419	0.251000	0.25915	1.169000	0.31871	2.597000	0.87782	0.655000	0.94253	GCG		0.478	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515	
WDR20	91833	hgsc.bcm.edu	37	14	102606315	102606315	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr14:102606315A>G	ENST00000342702.3	+	1	86	c.55A>G	c.(55-57)Acc>Gcc	p.T19A	WDR20_ENST00000558567.1_Missense_Mutation_p.T19A|WDR20_ENST00000299135.6_Missense_Mutation_p.T19A|HSP90AA1_ENST00000334701.7_5'Flank|WDR20_ENST00000556807.1_Missense_Mutation_p.T19A|WDR20_ENST00000556511.2_Missense_Mutation_p.T19A|WDR20_ENST00000335263.5_Missense_Mutation_p.T19A|WDR20_ENST00000424963.2_5'UTR|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000322340.5_Missense_Mutation_p.T19A|WDR20_ENST00000454394.2_Missense_Mutation_p.T19A|HSP90AA1_ENST00000558600.1_5'Flank	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	19								p.T19A(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CCAATTCACCACCCGGGAAGG	0.607																																					p.T19A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A55G	14						.						125.0	117.0	119.0					14																	102606315		2203	4300	6503	101676068	SO:0001583	missense	91833	exon1			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.55A>G	14.37:g.102606315A>G	ENSP00000341037:p.Thr19Ala	Somatic		Capture	SOLID	Phase_I	101676068	NM_181291	B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	ENST00000342702.3	37	CCDS9969.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.31|17.31	3.356633|3.356633	0.61293|0.61293	.|.	.|.	ENSG00000140153|ENSG00000140153	ENST00000556511|ENST00000335263;ENST00000322340;ENST00000299135;ENST00000342702;ENST00000556807;ENST00000454394;ENST00000401892	.|T;T;T;T;T;T	.|0.28895	.|1.59;1.59;1.59;1.59;1.59;1.59	5.56|5.56	4.41|4.41	0.53225|0.53225	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48537|0.48537	0.1505|0.1505	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	.|P;D;D;D;P;D;D	.|0.89917	.|0.791;1.0;0.996;0.965;0.482;0.985;0.995	.|P;D;D;P;B;D;P	.|0.85130	.|0.748;0.997;0.987;0.69;0.223;0.966;0.831	T|T	0.46498|0.46498	-0.9187|-0.9187	5|10	.|0.72032	.|D	.|0.01	.|.	12.4832|12.4832	0.55856|0.55856	0.8599:0.1401:0.0:0.0|0.8599:0.1401:0.0:0.0	.|.	.|19;19;19;19;19;19;19	.|E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;Q8NCN7;F8W9S4;Q8TBZ3	.|.;.;.;.;.;.;WDR20_HUMAN	R|A	10|19;19;19;19;19;19;10	.|ENSP00000335434:T19A;ENSP00000314209:T19A;ENSP00000299135:T19A;ENSP00000341037:T19A;ENSP00000450636:T19A;ENSP00000406084:T19A	.|ENSP00000299135:T19A	H|T	+|+	2|1	0|0	WDR20|WDR20	101676068|101676068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	6.639000|6.639000	0.74314|0.74314	0.920000|0.920000	0.36970|0.36970	0.455000|0.455000	0.32223|0.32223	CAC|ACC		0.607	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291	
IL17RA	23765	hgsc.bcm.edu	37	22	17579732	17579732	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr22:17579732C>T	ENST00000319363.6	+	4	511	c.378C>T	c.(376-378)tgC>tgT	p.C126C	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	126					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.C126C(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)		AACGTTTGTGCGTCAGGTTTG	0.502																																					p.C126C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C378T	22						.						171.0	134.0	146.0					22																	17579732		2203	4300	6503	15959732	SO:0001819	synonymous_variant	23765	exon4			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.378C>T	22.37:g.17579732C>T		Somatic		Capture	SOLID	Phase_I	15959732	NM_014339	O43844|Q20WK1	Silent	SNP	ENST00000319363.6	37	CCDS13739.1																																																																																				0.502	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339	
SCARF2	91179	hgsc.bcm.edu	37	22	20781810	20781810	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr22:20781810A>G	ENST00000266214.5	-	10	1687	c.1583T>C	c.(1582-1584)cTc>cCc	p.L528P	SCARF2_ENST00000405555.3_Missense_Mutation_p.L523P	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	528					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.L528P(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCTGCAGTTGAGTGTGTTATC	0.632																																					p.L523P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1568C	22						.						107.0	99.0	102.0					22																	20781810		2203	4300	6503	19111810	SO:0001583	missense	91179	exon10			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1583T>C	22.37:g.20781810A>G	ENSP00000266214:p.Leu528Pro	Somatic		Capture	SOLID	Phase_I	19111810	NM_182895	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	37	CCDS13779.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.366119	0.61513	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.35048	1.33;1.33	4.62	4.62	0.57501	.	0.080576	0.49305	D	0.000157	T	0.47655	0.1457	L	0.44542	1.39	0.58432	D	0.999999	P;D	0.71674	0.612;0.998	B;P	0.61940	0.278;0.896	T	0.49093	-0.8975	10	0.72032	D	0.01	-29.9529	12.2806	0.54760	1.0:0.0:0.0:0.0	.	523;523	E5RFB8;Q96GP6	.;SREC2_HUMAN	P	523;523;528	ENSP00000385589:L523P;ENSP00000266214:L528P	ENSP00000266214:L528P	L	-	2	0	SCARF2	19111810	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.110000	0.77069	1.869000	0.54173	0.379000	0.24179	CTC		0.632	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1		
PI4KA	5297	hgsc.bcm.edu	37	22	21158652	21158652	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr22:21158652A>G	ENST00000572273.1	-	12	1453	c.1223T>C	c.(1222-1224)cTg>cCg	p.L408P	PI4KA_ENST00000255882.6_Missense_Mutation_p.L466P			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	408					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.L408P(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)			CTTGGACTGCAGCTTCTCAGA	0.483											OREG0026326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L408P	GBM(136;1332 1831 3115 23601 50806)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1223C	22						.						150.0	127.0	135.0					22																	21158652		2203	4300	6503	19488652	SO:0001583	missense	5297	exon12			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.1223T>C	22.37:g.21158652A>G	ENSP00000458238:p.Leu408Pro	Somatic	746	Capture	SOLID	Phase_I	19488652	NM_058004	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	A	25.8	4.677286	0.88445	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	T	0.77267	0.4105	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	T	0.80160	-0.1498	9	0.87932	D	0	-15.6122	15.0128	0.71562	1.0:0.0:0.0:0.0	.	466;408	D3DX33;P42356	.;PI4KA_HUMAN	P	408	.	ENSP00000255882:L408P	L	-	2	0	PI4KA	19488652	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.139000	0.94554	2.127000	0.65507	0.533000	0.62120	CTG		0.483	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
PIWIL3	440822	hgsc.bcm.edu	37	22	25123935	25123935	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr22:25123935G>A	ENST00000332271.5	-	16	2434	c.2018C>T	c.(2017-2019)aCc>aTc	p.T673I	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.T555I|PIWIL3_ENST00000527701.1_Missense_Mutation_p.T555I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	673	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.T673I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCAGCATTGGTACTTGCAAC	0.338																																					p.T673I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2018T	22						.						136.0	121.0	126.0					22																	25123935		2203	4300	6503	23453935	SO:0001583	missense	440822	exon16			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2018C>T	22.37:g.25123935G>A	ENSP00000330031:p.Thr673Ile	Somatic		Capture	SOLID	Phase_I	23453935	NM_001008496		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.873239	0.00542	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.11712	2.75;2.75;2.75	2.8	-1.19	0.09585	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.662303	0.13974	N	0.349930	T	0.02929	0.0087	N	0.01250	-0.93	0.09310	N	1	B;B;B	0.15930	0.005;0.004;0.015	B;B;B	0.23716	0.007;0.03;0.048	T	0.47235	-0.9133	10	0.10636	T	0.68	-0.3191	7.7983	0.29160	0.8144:0.0:0.1856:0.0	.	555;664;673	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	I	673;555;555	ENSP00000330031:T673I;ENSP00000431843:T555I;ENSP00000435718:T555I	ENSP00000330031:T673I	T	-	2	0	PIWIL3	23453935	0.186000	0.23225	0.001000	0.08648	0.005000	0.04900	1.316000	0.33620	-0.385000	0.07833	-0.254000	0.11334	ACC		0.338	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
SEZ6L	23544	hgsc.bcm.edu	37	22	26689066	26689066	+	Silent	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr22:26689066C>A	ENST00000248933.6	+	2	884	c.789C>A	c.(787-789)acC>acA	p.T263T	SEZ6L_ENST00000402979.1_Silent_p.T36T|SEZ6L_ENST00000403121.1_Silent_p.T36T|SEZ6L_ENST00000360929.3_Silent_p.T263T|SEZ6L_ENST00000529632.2_Silent_p.T263T|SEZ6L_ENST00000404234.3_Silent_p.T263T|SEZ6L_ENST00000343706.4_Silent_p.T263T			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	263					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.T263T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGaccactacctccaccatta	0.597																																					p.T263T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C789A	22						.						63.0	44.0	51.0					22																	26689066		2200	4297	6497	25019066	SO:0001819	synonymous_variant	23544	exon2			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.789C>A	22.37:g.26689066C>A		Somatic		Capture	SOLID	Phase_I	25019066	NM_001184776	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	CCDS13833.1																																																																																				0.597	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
CHEK2	11200	hgsc.bcm.edu	37	22	29121245	29121245	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr22:29121245A>G	ENST00000405598.1	-	4	621	c.430T>C	c.(430-432)Ttt>Ctt	p.F144L	CHEK2_ENST00000402731.1_Missense_Mutation_p.F144L|CHEK2_ENST00000404276.1_Missense_Mutation_p.F144L|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.F187L|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.F144L|CHEK2_ENST00000382566.1_Missense_Mutation_p.F144L|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.F144L			O96017	CHK2_HUMAN	checkpoint kinase 2	144	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.F144L(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AAAATCCGAAAGTGTTTCTTG	0.373			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																													p.F144L		yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T430C	22						.						184.0	172.0	176.0					22																	29121245		2203	4300	6503	27451245	SO:0001583	missense	11200	exon3			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.430T>C	22.37:g.29121245A>G	ENSP00000386087:p.Phe144Leu	Somatic		Capture	SOLID	Phase_I	27451245	NM_145862	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.566482	0.86439	.	.	ENSG00000183765	ENST00000348295;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	D;D;D;D;D;D;D;D;D;D	0.90620	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.7;-2.06;-2.7	5.87	5.87	0.94306	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.93080	0.7797	M	0.64080	1.96	0.80722	D	1	D;P;P;P;D	0.69078	0.986;0.955;0.886;0.937;0.997	D;P;P;D;D	0.64237	0.923;0.779;0.569;0.919;0.919	D	0.90811	0.4701	10	0.13853	T	0.58	0.1929	15.4548	0.75305	1.0:0.0:0.0:0.0	.	144;144;144;144;187	O96017-7;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	L	144;144;144;144;144;187;144;144;175;154	ENSP00000329012:F144L;ENSP00000372007:F144L;ENSP00000329178:F144L;ENSP00000385747:F144L;ENSP00000386087:F144L;ENSP00000372023:F187L;ENSP00000384835:F144L;ENSP00000397478:F144L;ENSP00000408065:F175L;ENSP00000381099:F154L	ENSP00000329178:F144L	F	-	1	0	CHEK2	27451245	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	6.749000	0.74883	2.247000	0.74100	0.477000	0.44152	TTT		0.373	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	
AP1B1	162	hgsc.bcm.edu	37	22	29736663	29736663	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr22:29736663G>A	ENST00000405198.1	-	13	2011	c.1980C>T	c.(1978-1980)ggC>ggT	p.G660G	AP1B1_ENST00000357586.2_Silent_p.G660G|AP1B1_ENST00000356015.2_Silent_p.G660G|AP1B1_ENST00000415447.1_Silent_p.G660G|AP1B1_ENST00000402502.1_Silent_p.G660G|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000432560.2_Silent_p.G660G|AP1B1_ENST00000317368.7_Silent_p.G660G			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	660	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.G660G(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAAGGCCACCGCCAAGAAGGT	0.627																																					p.G660G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1980T	22						.						25.0	24.0	24.0					22																	29736663		2186	4282	6468	28066663	SO:0001819	synonymous_variant	162	exon14			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1980C>T	22.37:g.29736663G>A		Somatic		Capture	SOLID	Phase_I	28066663	NM_001166019	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	CCDS13855.1																																																																																				0.627	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127	
RBFOX2	23543	hgsc.bcm.edu	37	22	36177710	36177710	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr22:36177710T>G	ENST00000438146.2	-	4	545	c.546A>C	c.(544-546)aaA>aaC	p.K182N	RBFOX2_ENST00000397303.2_Missense_Mutation_p.K92N|RBFOX2_ENST00000416721.2_Missense_Mutation_p.K111N|RBFOX2_ENST00000414461.2_Missense_Mutation_p.K111N|RBFOX2_ENST00000405409.2_Missense_Mutation_p.K112N|RBFOX2_ENST00000449924.2_Missense_Mutation_p.K111N|RBFOX2_ENST00000359369.4_Missense_Mutation_p.K91N|RBFOX2_ENST00000262829.7_Missense_Mutation_p.K111N	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	121	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.K112N(1)		endometrium(4)|large_intestine(7)|lung(7)	18						CATGCAGCCGTTTCGGGGTAG	0.448																																					p.K181N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A543C	22						.						167.0	172.0	170.0					22																	36177710		2203	4300	6503	34507656	SO:0001583	missense	23543	exon4			AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.546A>C	22.37:g.36177710T>G	ENSP00000413035:p.Lys182Asn	Somatic		Capture	SOLID	Phase_I	34507656	NM_001082579	A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164036	0.78339	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146;ENST00000408983;ENST00000397305	T;T;T;T;T;T;T;T;T;T	0.74632	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;-0.86;0.99	5.63	3.13	0.36017	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	L	0.33624	1.015	0.58432	D	0.999992	D;P;D;D;D;D;P;P;P;P	0.89917	0.999;0.773;1.0;1.0;0.999;0.999;0.926;0.855;0.855;0.773	D;P;D;D;D;D;P;D;P;P	0.80764	0.994;0.712;0.994;0.994;0.994;0.994;0.85;0.919;0.804;0.831	T	0.75657	-0.3242	10	0.87932	D	0	.	7.746	0.28869	0.0:0.3719:0.0:0.6281	.	91;121;181;182;111;111;112;111;111;92	B0QYY4;O43251;O43251-6;O43251-8;O43251-3;O43251-5;O43251-9;O43251-10;O43251-4;B0QYV1	.;RFOX2_HUMAN;.;.;.;.;.;.;.;.	N	112;121;111;111;111;92;91;111;182;134;91	ENSP00000384944:K112N;ENSP00000407855:K111N;ENSP00000391670:K111N;ENSP00000262829:K111N;ENSP00000380470:K92N;ENSP00000352328:K91N;ENSP00000405651:K111N;ENSP00000413035:K182N;ENSP00000386177:K134N;ENSP00000380472:K91N	ENSP00000262829:K111N	K	-	3	2	RBFOX2	34507656	0.982000	0.34865	0.997000	0.53966	0.988000	0.76386	0.129000	0.15830	0.759000	0.33084	0.528000	0.53228	AAA		0.448	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3		
CSF2RB	1439	hgsc.bcm.edu	37	22	37318279	37318279	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr22:37318279G>T	ENST00000403662.3	+	2	252	c.30G>T	c.(28-30)atG>atT	p.M10I	CSF2RB_ENST00000406230.1_Missense_Mutation_p.M10I|CSF2RB_ENST00000536485.1_5'Flank|CSF2RB_ENST00000262825.5_Missense_Mutation_p.M10I			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	10					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.M10I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGCTCTCCATGGCCCTGCTGG	0.677																																					p.M10I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G30T	22						.						19.0	17.0	18.0					22																	37318279		2200	4297	6497	35648225	SO:0001583	missense	1439	exon2			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.30G>T	22.37:g.37318279G>T	ENSP00000384053:p.Met10Ile	Somatic		Capture	SOLID	Phase_I	35648225	NM_000395	Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	g	5.876	0.345778	0.11126	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230	D;D;D	0.91407	-2.33;-2.84;-2.84	3.81	-5.32	0.02722	.	31.756400	0.00166	U	0.000014	T	0.77579	0.4151	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.0	T	0.66384	-0.5937	10	0.39692	T	0.17	-5.0195	3.5113	0.07709	0.1078:0.1813:0.4962:0.2147	.	10;10	P32927-2;P32927	.;IL3RB_HUMAN	I	10	ENSP00000384053:M10I;ENSP00000262825:M10I;ENSP00000385271:M10I	ENSP00000262825:M10I	M	+	3	0	CSF2RB	35648225	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.999000	0.03697	-0.982000	0.03515	-0.436000	0.05848	ATG		0.677	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	
TEX33	339669	hgsc.bcm.edu	37	22	37398080	37398080	+	Missense_Mutation	SNP	G	G	A	rs201179656		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr22:37398080G>A	ENST00000405091.2	-	4	538	c.287C>T	c.(286-288)gCg>gTg	p.A96V	TEX33_ENST00000381821.1_Missense_Mutation_p.A96V|TEX33_ENST00000402860.3_Missense_Mutation_p.A11V			O43247	TEX33_HUMAN	testis expressed 33	96								p.A11V(1)									TCGAGAGCCCGCATTCTTCAG	0.647																																					p.A11V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C32T	22						.						34.0	29.0	31.0					22																	37398080		2203	4300	6503	35728026	SO:0001583	missense	339669	exon3			BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.287C>T	22.37:g.37398080G>A	ENSP00000386118:p.Ala96Val	Somatic		Capture	SOLID	Phase_I	35728026	NM_178552	B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Missense_Mutation	SNP	ENST00000405091.2	37	CCDS54524.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.015201	0.75161	.	.	ENSG00000185264	ENST00000402860;ENST00000405091;ENST00000381821	.	.	.	5.14	1.8	0.24995	.	1.042500	0.07559	N	0.916766	T	0.19725	0.0474	N	0.08118	0	0.09310	N	1	B	0.23316	0.083	B	0.20767	0.031	T	0.26677	-1.0096	9	0.72032	D	0.01	-8.6373	5.9832	0.19419	0.0:0.5402:0.2929:0.1669	.	96	O43247	EAN57_HUMAN	V	11;96;96	.	ENSP00000371243:A96V	A	-	2	0	C22orf33	35728026	0.000000	0.05858	0.300000	0.25030	0.001000	0.01503	-0.446000	0.06837	0.340000	0.23745	-0.127000	0.14921	GCG		0.647	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552	
KDELR3	11015	hgsc.bcm.edu	37	22	38882020	38882020	+	IGR	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr22:38882020T>C	ENST00000216014.4	+	0	1728				DDX17_ENST00000444597.1_Missense_Mutation_p.T156A|DDX17_ENST00000396821.3_Missense_Mutation_p.T706A|DDX17_ENST00000381633.3_Missense_Mutation_p.T627A	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						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)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)	p.T704A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					ATCATATTGGTAGCTCCCGGA	0.537																																					p.T706A	Ovarian(11;103 529 24120 28493 32980)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2116G	22						.						178.0	162.0	168.0					22																	38882020		2203	4300	6503	37211966	SO:0001628	intergenic_variant	10521	exon13			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38882020T>C		Somatic		Capture	SOLID	Phase_I	37211966	NM_001098504	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696650	0.30142	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000415748;ENST00000444597;ENST00000403230;ENST00000404499	T;T;T	0.26223	1.75;1.76;1.75	5.42	5.42	0.78866	.	0.069050	0.56097	D	0.000031	T	0.14485	0.0350	N	0.14661	0.345	0.36139	D	0.846694	B;B;B	0.23058	0.004;0.007;0.079	B;B;B	0.25140	0.001;0.003;0.058	T	0.22312	-1.0220	10	0.13853	T	0.58	-11.3442	10.6701	0.45753	0.1428:0.0:0.0:0.8572	.	708;704;158	Q59F66;Q92841-4;Q9UQL5	.;.;.	A	706;627;158;156;704;708	ENSP00000380033:T706A;ENSP00000371046:T627A;ENSP00000385536:T704A	ENSP00000371046:T627A	T	-	1	0	DDX17	37211966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.186000	0.32078	2.041000	0.60428	0.533000	0.62120	ACC		0.537	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1		
CELSR1	9620	hgsc.bcm.edu	37	22	46790043	46790043	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr22:46790043C>A	ENST00000262738.3	-	14	5959	c.5960G>T	c.(5959-5961)tGc>tTc	p.C1987F		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1987	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.C1987F(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTCACCTTGCATTGGCACTG	0.592																																					p.C1987F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5960T	22						.						111.0	83.0	93.0					22																	46790043		2203	4300	6503	45168707	SO:0001583	missense	9620	exon14			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5960G>T	22.37:g.46790043C>A	ENSP00000262738:p.Cys1987Phe	Somatic		Capture	SOLID	Phase_I	45168707	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128143	0.56721	.	.	ENSG00000075275	ENST00000262738	D	0.89050	-2.46	3.47	2.34	0.29019	.	0.069196	0.64402	U	0.000018	D	0.94185	0.8134	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.77557	0.99;0.905	D	0.94803	0.7972	10	0.87932	D	0	.	12.7065	0.57063	0.0:0.8335:0.1665:0.0	.	308;1987	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	F	1987	ENSP00000262738:C1987F	ENSP00000262738:C1987F	C	-	2	0	CELSR1	45168707	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.515000	0.67049	1.663000	0.50791	0.462000	0.41574	TGC		0.592	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
DNMT1	1786	hgsc.bcm.edu	37	19	10265627	10265627	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:10265627T>G	ENST00000340748.4	-	19	1785	c.1550A>C	c.(1549-1551)cAg>cCg	p.Q517P	DNMT1_ENST00000540357.1_Missense_Mutation_p.Q517P|DNMT1_ENST00000359526.4_Missense_Mutation_p.Q533P			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	517	DNA replication foci-targeting sequence. {ECO:0000250}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				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.Q517P(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)	GGAATTGCTCTGCAGGAACTC	0.512																																					p.Q533P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1598C	19						.						132.0	110.0	117.0					19																	10265627		2203	4300	6503	10126627	SO:0001583	missense	1786	exon20			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.1550A>C	19.37:g.10265627T>G	ENSP00000345739:p.Gln517Pro	Somatic		Capture	SOLID	Phase_I	10126627	NM_001130823	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237506	0.58886	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.76578	-1.03;-1.03;-1.03	5.78	4.74	0.60224	DNA (cytosine-5)-methyltransferase 1, replication foci domain (1);	0.000000	0.85682	D	0.000000	D	0.83986	0.5373	M	0.73962	2.25	0.80722	D	1	D;D;D	0.58970	0.98;0.98;0.984	P;P;P	0.59643	0.782;0.782;0.861	T	0.82080	-0.0634	10	0.30078	T	0.28	.	11.5187	0.50539	0.1346:0.0:0.0:0.8654	.	517;533;517	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	P	533;517;517;385	ENSP00000352516:Q533P;ENSP00000440457:Q517P;ENSP00000345739:Q517P	ENSP00000345739:Q517P	Q	-	2	0	DNMT1	10126627	1.000000	0.71417	0.971000	0.41717	0.189000	0.23516	6.236000	0.72339	1.082000	0.41137	0.533000	0.62120	CAG		0.512	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
CDC37	11140	hgsc.bcm.edu	37	19	10502251	10502251	+	Silent	SNP	G	G	A	rs373049246		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:10502251G>A	ENST00000222005.2	-	8	1166	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	371					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.G371G(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CCTTCTCATCGCCCGTCTTGG	0.592											OREG0025234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G371G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1113T	19						.	G		1,4405	2.1+/-5.4	0,1,2202	110.0	98.0	102.0		1113	-7.8	0.0	19		102	0,8600		0,0,4300	no	coding-synonymous	CDC37	NM_007065.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		371/379	10502251	1,13005	2203	4300	6503	10363251	SO:0001819	synonymous_variant	11140	exon8			U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.1113C>T	19.37:g.10502251G>A		Somatic	665	Capture	SOLID	Phase_I	10363251	NM_007065	Q53YA2	Silent	SNP	ENST00000222005.2	37	CCDS12237.1																																																																																				0.592	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065	
SLC44A2	57153	hgsc.bcm.edu	37	19	10742623	10742623	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:10742623A>G	ENST00000335757.5	+	9	1082	c.706A>G	c.(706-708)Atc>Gtc	p.I236V	SLC44A2_ENST00000586078.1_Missense_Mutation_p.I236V|SLC44A2_ENST00000407327.4_Missense_Mutation_p.I234V			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	236					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)	p.I236V(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GTACTGGATTATCATGTAAGT	0.562																																					p.I236V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A706G	19						.						108.0	105.0	106.0					19																	10742623		2203	4300	6503	10603623	SO:0001583	missense	57153	exon9			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.706A>G	19.37:g.10742623A>G	ENSP00000336888:p.Ile236Val	Somatic		Capture	SOLID	Phase_I	10603623	NM_020428	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.443913	0.25987	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.09255	3.0;3.0	5.23	-10.5	0.00291	.	0.883521	0.09720	N	0.764622	T	0.04634	0.0126	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.41070	-0.9529	10	0.40728	T	0.16	.	14.6435	0.68742	0.774:0.0962:0.1298:0.0	.	236;234	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	V	234;236;236	ENSP00000385135:I234V;ENSP00000336888:I236V	ENSP00000336888:I236V	I	+	1	0	SLC44A2	10603623	0.000000	0.05858	0.023000	0.16930	0.760000	0.43138	-0.674000	0.05233	-1.597000	0.01609	-0.499000	0.04595	ATC		0.562	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1		
PRKCSH	5589	hgsc.bcm.edu	37	19	11548718	11548718	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:11548718G>A	ENST00000589838.1	+	3	218	c.218G>A	c.(217-219)gGc>gAc	p.G73D	PRKCSH_ENST00000592741.1_Missense_Mutation_p.G73D|CCDC151_ENST00000586836.1_5'Flank|PRKCSH_ENST00000591462.1_Missense_Mutation_p.G73D|CCDC151_ENST00000545100.1_5'Flank|CCDC151_ENST00000591179.1_5'Flank|PRKCSH_ENST00000412601.1_Missense_Mutation_p.G73D|snoU13_ENST00000459022.1_RNA|PRKCSH_ENST00000252455.2_Missense_Mutation_p.G73D|CCDC151_ENST00000356392.4_5'Flank|PRKCSH_ENST00000587327.1_Missense_Mutation_p.G73D			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	73					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.G73D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TGTCCTAATGGCAGCTTCCAC	0.542																																					p.G73D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	19						.						86.0	82.0	83.0					19																	11548718		2203	4300	6503	11409718	SO:0001583	missense	5589	exon4				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.218G>A	19.37:g.11548718G>A	ENSP00000465461:p.Gly73Asp	Somatic		Capture	SOLID	Phase_I	11409718	NM_002743	A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609569	0.87258	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.76839	-1.05;-1.05	4.28	4.28	0.50868	.	0.123466	0.53938	D	0.000046	D	0.85822	0.5786	M	0.69185	2.1	0.80722	D	1	D;P;D	0.89917	1.0;0.944;1.0	D;D;D	0.87578	0.998;0.909;0.996	D	0.86749	0.1959	10	0.54805	T	0.06	-31.9496	13.6533	0.62323	0.0:0.0:1.0:0.0	.	73;73;73	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	D	73	ENSP00000252455:G73D;ENSP00000395616:G73D	ENSP00000252455:G73D	G	+	2	0	PRKCSH	11409718	1.000000	0.71417	0.969000	0.41365	0.983000	0.72400	8.922000	0.92789	1.937000	0.56155	0.561000	0.74099	GGC		0.542	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1		
ZNF442	79973	hgsc.bcm.edu	37	19	12460610	12460610	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:12460610C>T	ENST00000242804.4	-	6	2371	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.E528K	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	597					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.E597K(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TGCATCTTCTCTCCAGTGTGA	0.403																																					p.E597K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1789A	19						.						112.0	98.0	102.0					19																	12460610		2203	4300	6503	12321610	SO:0001583	missense	79973	exon6			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1789G>A	19.37:g.12460610C>T	ENSP00000242804:p.Glu597Lys	Somatic		Capture	SOLID	Phase_I	12321610	NM_030824	B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811440	0.70797	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.24350	1.86;1.86	0.792	0.792	0.18625	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36193	0.0958	L	0.41573	1.285	0.33720	D	0.616894	D	0.71674	0.998	D	0.83275	0.996	T	0.49390	-0.8945	9	0.72032	D	0.01	.	7.4758	0.27376	0.0:1.0:0.0:0.0	.	597	Q9H7R0	ZN442_HUMAN	K	597;528	ENSP00000242804:E597K;ENSP00000388634:E528K	ENSP00000242804:E597K	E	-	1	0	ZNF442	12321610	0.987000	0.35691	0.124000	0.21820	0.463000	0.32649	2.936000	0.48971	0.732000	0.32470	0.306000	0.20318	GAG		0.403	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824	
WDR83	84292	hgsc.bcm.edu	37	19	12784068	12784068	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:12784068C>T	ENST00000418543.3	+	10	1085	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C	WDR83_ENST00000242796.4_Missense_Mutation_p.R246C|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_5'Flank	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	246					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)		p.R246C(1)		breast(2)|large_intestine(1)|lung(1)	4						CCTGAGCGAGCGTGACACACA	0.587																																					p.R246C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C736T	19						.						157.0	145.0	149.0					19																	12784068		2203	4300	6503	12645068	SO:0001583	missense	84292	exon10			AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.736C>T	19.37:g.12784068C>T	ENSP00000402653:p.Arg246Cys	Somatic		Capture	SOLID	Phase_I	12645068	NM_001099737	B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	CCDS12275.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866536	0.72065	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.81247	-1.47;-1.47	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.174525	0.50627	D	0.000101	T	0.78175	0.4242	N	0.25825	0.765	0.49299	D	0.999771	D	0.63046	0.992	P	0.54174	0.744	T	0.79776	-0.1661	10	0.59425	D	0.04	.	11.6736	0.51417	0.2845:0.7154:0.0:0.0	.	246	Q9BRX9	WDR83_HUMAN	C	246	ENSP00000402653:R246C;ENSP00000242796:R246C	ENSP00000242796:R246C	R	+	1	0	WDR83	12645068	1.000000	0.71417	0.984000	0.44739	0.564000	0.35744	4.499000	0.60380	2.549000	0.85964	0.561000	0.74099	CGT		0.587	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332	
MUM1	84939	hgsc.bcm.edu	37	19	1366355	1366355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:1366355G>T	ENST00000415183.3	+	7	1365	c.1339G>T	c.(1339-1341)Gga>Tga	p.G447*	MUM1_ENST00000344663.3_Nonsense_Mutation_p.G447*|MUM1_ENST00000311401.5_Nonsense_Mutation_p.G378*|MUM1_ENST00000591806.1_Nonsense_Mutation_p.G447*			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	446	PWWP.				chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)	p.G447*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATACATCGAAGGACACATGAA	0.493																																					p.G447X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1339T	19						.						134.0	108.0	117.0					19																	1366355		2203	4300	6503	1317355	SO:0001587	stop_gained	84939	exon8			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1339G>T	19.37:g.1366355G>T	ENSP00000394925:p.Gly447*	Somatic		Capture	SOLID	Phase_I	1317355	NM_032853	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Nonsense_Mutation	SNP	ENST00000415183.3	37		.	.	.	.	.	.	.	.	.	.	G	20.8	4.050708	0.75960	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183	.	.	.	5.04	2.86	0.33363	.	0.452778	0.24922	N	0.034523	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.0302	0.19677	0.1023:0.1947:0.7029:0.0	.	.	.	.	X	447;378;447	.	ENSP00000309135:G378X	G	+	1	0	MUM1	1317355	0.993000	0.37304	0.088000	0.20740	0.016000	0.09150	2.943000	0.49026	1.058000	0.40530	0.561000	0.74099	GGA		0.493	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853	
C19orf43	79002	hgsc.bcm.edu	37	19	12842216	12842216	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:12842216C>T	ENST00000242784.4	-	2	482	c.365G>A	c.(364-366)gGg>gAg	p.G122E	C19orf43_ENST00000588213.1_Silent_p.R114R|C19orf43_ENST00000592273.1_Intron	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	122								p.G122E(1)		endometrium(2)|large_intestine(2)	4						TAGTTTGTTCCCGCCTCTGCG	0.602																																					p.G122E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G365A	19						.						153.0	125.0	134.0					19																	12842216		2203	4300	6503	12703216	SO:0001583	missense	79002	exon2			AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 18"""					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000242784.4:c.365G>A	19.37:g.12842216C>T	ENSP00000242784:p.Gly122Glu	Somatic		Capture	SOLID	Phase_I	12703216	NM_024038		Missense_Mutation	SNP	ENST00000242784.4	37	CCDS12279.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723496	0.89298	.	.	ENSG00000123144	ENST00000242784	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80520	-0.1346	9	0.87932	D	0	-13.0597	18.0139	0.89232	0.0:1.0:0.0:0.0	.	122	Q9BQ61	CS043_HUMAN	E	122	.	ENSP00000242784:G122E	G	-	2	0	C19orf43	12703216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.122000	0.77169	2.534000	0.85438	0.655000	0.94253	GGG		0.602	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	NM_024038	
TECR	9524	hgsc.bcm.edu	37	19	14673380	14673380	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:14673380T>C	ENST00000215567.5	+	2	196	c.59T>C	c.(58-60)tTg>tCg	p.L20S	TECR_ENST00000600083.1_5'UTR|TECR_ENST00000436007.2_Missense_Mutation_p.L35S|TECR_ENST00000596164.1_3'UTR|TECR_ENST00000596073.1_5'UTR	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	20					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.L20S(1)		endometrium(1)|large_intestine(1)|ovary(1)	3						CTGTGTTTCTTGGACAAGGTA	0.582																																					p.L20S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T59C	19						.						112.0	100.0	104.0					19																	14673380		2203	4300	6503	14534380	SO:0001583	missense	9524	exon2			AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.59T>C	19.37:g.14673380T>C	ENSP00000215567:p.Leu20Ser	Somatic		Capture	SOLID	Phase_I	14534380	NM_138501	B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.722143	0.68959	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.41758	0.99;0.99	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000008	T	0.64080	0.2566	M	0.87682	2.9	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.66084	0.941;0.941;0.941	T	0.66360	-0.5943	10	0.30854	T	0.27	-19.2284	11.8731	0.52531	0.0:0.0:0.0:1.0	.	20;35;20	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	S	20;35	ENSP00000215567:L20S;ENSP00000397206:L35S	ENSP00000215567:L20S	L	+	2	0	TECR	14534380	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	5.565000	0.67365	1.753000	0.51906	0.397000	0.26171	TTG		0.582	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501	
EMR2	30817	hgsc.bcm.edu	37	19	14867082	14867082	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:14867082T>C	ENST00000315576.3	-	12	1611	c.1160A>G	c.(1159-1161)gAc>gGc	p.D387G	EMR2_ENST00000346057.1_Missense_Mutation_p.D338G|EMR2_ENST00000353005.1_Missense_Mutation_p.D245G|EMR2_ENST00000353876.1_Missense_Mutation_p.D294G|EMR2_ENST00000596991.2_Missense_Mutation_p.D387G|EMR2_ENST00000601345.1_Missense_Mutation_p.D387G|EMR2_ENST00000595839.1_Missense_Mutation_p.D245G|EMR2_ENST00000594294.1_Missense_Mutation_p.D338G|EMR2_ENST00000392967.2_Missense_Mutation_p.D387G|EMR2_ENST00000392965.3_Missense_Mutation_p.D387G|EMR2_ENST00000392964.3_Missense_Mutation_p.D126G|EMR2_ENST00000594076.1_Missense_Mutation_p.D294G	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	387					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.D387G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CTGATTCCAGTCGAGCTGCAT	0.488																																					p.D338G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1013G	19						.						162.0	128.0	140.0					19																	14867082		2203	4300	6503	14728082	SO:0001583	missense	30817	exon11			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1160A>G	19.37:g.14867082T>C	ENSP00000319883:p.Asp387Gly	Somatic		Capture	SOLID	Phase_I	14728082	NM_152920	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.400055	0.25291	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965;ENST00000392964;ENST00000392962	T;T;T;T;T;T;T;T	0.80304	-1.01;-1.15;-0.54;0.26;0.99;-1.32;1.1;-1.36	2.86	-0.659	0.11424	.	.	.	.	.	T	0.65260	0.2674	L	0.36672	1.1	0.09310	N	0.999999	B;B;B;P;B;B;B;B	0.44429	0.039;0.001;0.0;0.835;0.002;0.0;0.0;0.002	B;B;B;B;B;B;B;B	0.39840	0.024;0.003;0.002;0.311;0.008;0.002;0.002;0.031	T	0.54814	-0.8237	9	0.27785	T	0.31	.	2.9519	0.05865	0.0:0.2855:0.2389:0.4757	.	387;294;387;245;338;387;387;387	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	G	387;387;338;294;245;387;126;338	ENSP00000319883:D387G;ENSP00000376694:D387G;ENSP00000263380:D338G;ENSP00000319454:D294G;ENSP00000319838:D245G;ENSP00000376692:D387G;ENSP00000376691:D126G;ENSP00000376689:D338G	ENSP00000319883:D387G	D	-	2	0	EMR2	14728082	0.074000	0.21230	0.024000	0.17045	0.022000	0.10575	0.242000	0.18087	-0.221000	0.09973	0.416000	0.27883	GAC		0.488	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		
OR7A5	26659	hgsc.bcm.edu	37	19	14938620	14938620	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:14938620A>G	ENST00000322301.3	-	2	521	c.434T>C	c.(433-435)gTt>gCt	p.V145A	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.V145A			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	145					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.V145A(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						GGATGCTAGAACCAGCAGTCC	0.502																																					p.V145A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T434C	19						.						75.0	69.0	71.0					19																	14938620		2203	4300	6503	14799620	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.434T>C	19.37:g.14938620A>G	ENSP00000316955:p.Val145Ala	Somatic		Capture	SOLID	Phase_I	14799620	NM_017506	B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	a	14.45	2.540007	0.45176	.	.	ENSG00000188269	ENST00000322301	T	0.39056	1.1	3.13	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.313373	0.16815	U	0.198385	T	0.35941	0.0949	L	0.33339	1.005	0.09310	N	1	P	0.35872	0.525	B	0.44163	0.443	T	0.23583	-1.0184	10	0.56958	D	0.05	.	6.657	0.22992	0.8766:0.0:0.1234:0.0	.	145	Q15622	OR7A5_HUMAN	A	145	ENSP00000316955:V145A	ENSP00000316955:V145A	V	-	2	0	OR7A5	14799620	0.002000	0.14202	0.003000	0.11579	0.149000	0.21700	1.838000	0.39211	0.439000	0.26476	0.113000	0.15668	GTT		0.502	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506	
SLC1A6	6511	hgsc.bcm.edu	37	19	15073079	15073079	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:15073079T>C	ENST00000221742.3	-	5	677	c.670A>G	c.(670-672)Atg>Gtg	p.M224V	SLC1A6_ENST00000544886.2_Missense_Mutation_p.M224V|SLC1A6_ENST00000430939.2_Missense_Mutation_p.M160V|SLC1A6_ENST00000600144.1_Missense_Mutation_p.M224V|SLC1A6_ENST00000598504.1_Missense_Mutation_p.M224V	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	224					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.M224V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGAGGAGGCATGGAGGCACCC	0.557																																					p.M224V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A670G	19						.						118.0	110.0	113.0					19																	15073079		2203	4300	6503	14934079	SO:0001583	missense	6511	exon5				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.670A>G	19.37:g.15073079T>C	ENSP00000221742:p.Met224Val	Somatic		Capture	SOLID	Phase_I	14934079	NM_005071	Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	t	2.940	-0.219148	0.06101	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.70045	-0.45;0.65;1.36	4.42	-0.417	0.12347	.	0.594646	0.18127	N	0.150846	T	0.26268	0.0641	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.30822	-0.9965	10	0.08381	T	0.77	-13.4509	5.1685	0.15098	0.0:0.274:0.1613:0.5647	.	160;224;224	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	V	160;224;224	ENSP00000409386:M160V;ENSP00000221742:M224V;ENSP00000446175:M224V	ENSP00000221742:M224V	M	-	1	0	SLC1A6	14934079	0.995000	0.38212	0.502000	0.27614	0.668000	0.39293	0.440000	0.21592	-0.006000	0.14370	0.372000	0.22366	ATG		0.557	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
SUGP2	10147	hgsc.bcm.edu	37	19	19135475	19135475	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:19135475G>A	ENST00000601879.1	-	3	1979	c.1682C>T	c.(1681-1683)cCt>cTt	p.P561L	SUGP2_ENST00000598202.1_5'Flank|SUGP2_ENST00000337018.6_Missense_Mutation_p.P561L|SUGP2_ENST00000600377.1_Missense_Mutation_p.P575L|SUGP2_ENST00000452918.2_Missense_Mutation_p.P561L|SUGP2_ENST00000456085.2_Missense_Mutation_p.P330L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	561					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P561L(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AGGTTTCGTAGGAGGAATCAT	0.473																																					p.P561L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1682T	19						.						97.0	93.0	94.0					19																	19135475		2203	4300	6503	18996475	SO:0001583	missense	10147	exon3			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1682C>T	19.37:g.19135475G>A	ENSP00000472286:p.Pro561Leu	Somatic		Capture	SOLID	Phase_I	18996475	NM_014884	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158169	0.38119	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.11821	2.95;2.95;2.95;2.74	4.84	4.84	0.62591	.	0.883591	0.09800	N	0.754162	T	0.12305	0.0299	N	0.14661	0.345	0.09310	N	0.999994	B;B;P	0.38195	0.003;0.043;0.622	B;B;B	0.38106	0.002;0.01;0.265	T	0.35176	-0.9799	10	0.66056	D	0.02	-3.2644	16.5179	0.84305	0.0:0.0:1.0:0.0	.	330;561;561	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	L	561;561;561;330	ENSP00000337926:P561L;ENSP00000332373:P561L;ENSP00000389380:P561L;ENSP00000409603:P330L	ENSP00000332373:P561L	P	-	2	0	SUGP2	18996475	0.999000	0.42202	0.007000	0.13788	0.027000	0.11550	3.640000	0.54350	2.250000	0.74265	0.462000	0.41574	CCT		0.473	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392	
ZNF556	80032	hgsc.bcm.edu	37	19	2876139	2876139	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:2876139C>A	ENST00000307635.2	+	3	266	c.179C>A	c.(178-180)aCt>aAt	p.T60N	ZNF556_ENST00000586426.1_Missense_Mutation_p.T60N	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	60	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.T60N(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CAGCAGGATACTTCTGGAGAA	0.373																																					p.T60N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C179A	19						.						135.0	148.0	143.0					19																	2876139		2203	4300	6503	2827139	SO:0001583	missense	80032	exon3			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.179C>A	19.37:g.2876139C>A	ENSP00000302603:p.Thr60Asn	Somatic		Capture	SOLID	Phase_I	2827139	NM_024967	Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	C	2.991	-0.208202	0.06180	.	.	ENSG00000172000	ENST00000307635	T	0.05319	3.46	2.12	-2.13	0.07144	Krueppel-associated box (3);	.	.	.	.	T	0.02304	0.0071	N	0.04880	-0.145	0.09310	N	1	B	0.24186	0.099	B	0.10450	0.005	T	0.46679	-0.9174	9	0.17369	T	0.5	.	3.3878	0.07278	0.0:0.2903:0.2093:0.5004	.	60	Q9HAH1	ZN556_HUMAN	N	60	ENSP00000302603:T60N	ENSP00000302603:T60N	T	+	2	0	ZNF556	2827139	0.000000	0.05858	0.001000	0.08648	0.288000	0.27193	-1.909000	0.01586	-0.812000	0.04363	-0.514000	0.04452	ACT		0.373	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967	
ARMC6	93436	hgsc.bcm.edu	37	19	19162517	19162517	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:19162517A>G	ENST00000535612.1	+	5	798	c.366A>G	c.(364-366)aaA>aaG	p.K122K	ARMC6_ENST00000392336.3_Silent_p.K122K|ARMC6_ENST00000392335.2_Silent_p.K97K|ARMC6_ENST00000269932.6_Silent_p.K97K|ARMC6_ENST00000546344.1_Silent_p.K29K	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	122					hematopoietic progenitor cell differentiation (GO:0002244)			p.K97K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			ACCAGTGCAAACAGGACAAGG	0.637																																					p.K97K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A291G	19						.						75.0	72.0	73.0					19																	19162517		2203	4300	6503	19023517	SO:0001819	synonymous_variant	93436	exon4			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.366A>G	19.37:g.19162517A>G		Somatic		Capture	SOLID	Phase_I	19023517	NM_033415	B4DI98|O94999|Q9BTH5	Silent	SNP	ENST00000535612.1	37	CCDS56089.1																																																																																				0.637	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415	
ZNF567	163081	hgsc.bcm.edu	37	19	37211098	37211098	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:37211098A>G	ENST00000536254.2	+	6	1694	c.1472A>G	c.(1471-1473)tAc>tGc	p.Y491C	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.Y460C|ZNF567_ENST00000588311.1_Missense_Mutation_p.Y460C|ZNF567_ENST00000585696.1_Missense_Mutation_p.Y460C|ZNF567_ENST00000360729.4_Missense_Mutation_p.Y460C			Q8N184	ZN567_HUMAN	zinc finger protein 567	491					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.Y460C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATGAAGTCATACCTCATTGAT	0.408																																					p.Y460C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1379G	19						.						84.0	81.0	82.0					19																	37211098		2203	4300	6503	41902938	SO:0001583	missense	163081	exon4			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1472A>G	19.37:g.37211098A>G	ENSP00000441838:p.Tyr491Cys	Somatic		Capture	SOLID	Phase_I	41902938	NM_152603	B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37		.	.	.	.	.	.	.	.	.	.	A	12.81	2.048215	0.36181	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.07908	3.15;3.15;3.15	4.88	4.88	0.63580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38326	N	0.001727	T	0.17023	0.0409	L	0.31157	0.91	0.36938	D	0.89224	D;D	0.89917	0.993;1.0	P;D	0.85130	0.732;0.997	T	0.09058	-1.0692	10	0.38643	T	0.18	.	12.7584	0.57350	1.0:0.0:0.0:0.0	.	491;460	Q8N184;F8WEL6	ZN567_HUMAN;.	C	491;435;460;490;460	ENSP00000441838:Y491C;ENSP00000353957:Y460C;ENSP00000376003:Y460C	ENSP00000353957:Y460C	Y	+	2	0	ZNF567	41902938	0.000000	0.05858	0.977000	0.42913	0.998000	0.95712	0.740000	0.26188	2.176000	0.68965	0.459000	0.35465	TAC		0.408	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603	
UBXN6	80700	hgsc.bcm.edu	37	19	4445552	4445552	+	Silent	SNP	G	G	T	rs61729794	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:4445552G>T	ENST00000301281.6	-	11	1393	c.1269C>A	c.(1267-1269)gcC>gcA	p.A423A	MIR4746_ENST00000579802.1_RNA|UBXN6_ENST00000394765.3_Silent_p.A370A|CTB-50L17.7_ENST00000588798.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	423						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.A423A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						AGTCCGGCTCGGCCCCCGCGG	0.617																																					p.A423A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1269A	19						.						99.0	101.0	100.0					19																	4445552		2203	4300	6503	4396552	SO:0001819	synonymous_variant	80700	exon11			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.1269C>A	19.37:g.4445552G>T		Somatic		Capture	SOLID	Phase_I	4396552	NM_025241	D6W626|Q96AH1|Q96IK9|Q9BZV0	Silent	SNP	ENST00000301281.6	37	CCDS12129.1																																																																																				0.617	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241	
SIPA1L3	23094	hgsc.bcm.edu	37	19	38579414	38579414	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:38579414A>G	ENST00000222345.6	+	4	2097	c.1588A>G	c.(1588-1590)Att>Gtt	p.I530V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	530					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.I530V(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)			GGCTGTGAGCATTAAGCGGGA	0.557																																					p.I530V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1588G	19						.						111.0	90.0	97.0					19																	38579414		2203	4300	6503	43271254	SO:0001583	missense	23094	exon4			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.1588A>G	19.37:g.38579414A>G	ENSP00000222345:p.Ile530Val	Somatic		Capture	SOLID	Phase_I	43271254	NM_015073	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724302	0.48728	.	.	ENSG00000105738	ENST00000222345	D	0.94330	-3.4	5.99	4.97	0.65823	.	0.054606	0.64402	D	0.000001	D	0.85877	0.5799	N	0.19112	0.55	0.42276	D	0.992078	B	0.09022	0.002	B	0.12837	0.008	T	0.80817	-0.1213	10	0.39692	T	0.17	-41.4202	7.4984	0.27503	0.7846:0.1415:0.0739:0.0	.	530	O60292	SI1L3_HUMAN	V	530	ENSP00000222345:I530V	ENSP00000222345:I530V	I	+	1	0	SIPA1L3	43271254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.836000	0.48183	2.291000	0.77112	0.533000	0.62120	ATT		0.557	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
DYRK1B	9149	hgsc.bcm.edu	37	19	40321088	40321088	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:40321088A>G	ENST00000593685.1	-	4	767	c.299T>C	c.(298-300)aTc>aCc	p.I100T	DYRK1B_ENST00000601972.1_Missense_Mutation_p.I100T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.I100T|DYRK1B_ENST00000430012.2_Missense_Mutation_p.I100T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.I100T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.I100T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	100					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|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)|transcription coactivator activity (GO:0003713)	p.I100T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			ACTGCGCACGATGTAGTCATG	0.587																																					p.I100T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T299C	19						.						152.0	112.0	125.0					19																	40321088		2203	4300	6503	45012928	SO:0001583	missense	9149	exon4			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.299T>C	19.37:g.40321088A>G	ENSP00000469863:p.Ile100Thr	Somatic		Capture	SOLID	Phase_I	45012928	NM_006483	O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145496	0.77888	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.19105	2.17;2.17;2.17	4.44	4.44	0.53790	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.45538	0.1347	M	0.85197	2.74	0.80722	D	1	P;D;P;P	0.56035	0.911;0.974;0.852;0.954	P;P;P;P	0.60609	0.756;0.877;0.623;0.877	T	0.51880	-0.8649	10	0.66056	D	0.02	.	11.6541	0.51306	1.0:0.0:0.0:0.0	.	100;100;100;100	B3KQI0;Q9Y463-2;Q9Y463;Q9Y463-3	.;.;DYR1B_HUMAN;.	T	100	ENSP00000312789:I100T;ENSP00000221803:I100T;ENSP00000403182:I100T	ENSP00000312789:I100T	I	-	2	0	DYRK1B	45012928	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.230000	0.95299	1.648000	0.50643	0.460000	0.39030	ATC		0.587	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714	
PRX	57716	hgsc.bcm.edu	37	19	40900017	40900017	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:40900017C>T	ENST00000324001.7	-	7	4512	c.4242G>A	c.(4240-4242)agG>agA	p.R1414R	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1414					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1414R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTAGGGACACCCTGGGGAAGC	0.667																																					p.R1414R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4242A	19						.						64.0	75.0	71.0					19																	40900017		2203	4300	6503	45591857	SO:0001819	synonymous_variant	57716	exon7			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4242G>A	19.37:g.40900017C>T		Somatic		Capture	SOLID	Phase_I	45591857	NM_181882	Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	CCDS33028.1																																																																																				0.667	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956	
CXCL17	284340	hgsc.bcm.edu	37	19	42946962	42946962	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:42946962A>C	ENST00000601181.1	-	1	238	c.23T>G	c.(22-24)cTc>cGc	p.L8R	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_198477.1	NP_940879.1	Q6UXB2	VCC1_HUMAN	chemokine (C-X-C motif) ligand 17	8					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)	extracellular region (GO:0005576)		p.L8R(1)		large_intestine(2)|skin(1)	3		Prostate(69;0.00899)				CAACAGGAGGAGGGAAGAGAT	0.498																																					p.L8R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T23G	19						.						90.0	81.0	84.0					19																	42946962		2203	4300	6503	47638802	SO:0001583	missense	284340	exon1				CCDS12608.1	19q13.2	2007-10-15				ENSG00000189377			19232	protein-coding gene	gene with protein product		611387				17201934	Standard	NM_198477		Approved	Dcip1, UNQ473, DMC, VCC1	uc002otu.3	Q6UXB2		ENST00000601181.1:c.23T>G	19.37:g.42946962A>C	ENSP00000472467:p.Leu8Arg	Somatic		Capture	SOLID	Phase_I	47638802	NM_198477	A8KAC0	Missense_Mutation	SNP	ENST00000601181.1	37	CCDS12608.1	.	.	.	.	.	.	.	.	.	.	A	4.097	0.016018	0.07959	.	.	ENSG00000189377	ENST00000341918	.	.	.	3.3	2.29	0.28610	.	0.572742	0.14698	N	0.303738	T	0.33411	0.0862	L	0.29908	0.895	0.09310	N	1	P	0.52061	0.95	P	0.52424	0.698	T	0.10291	-1.0636	9	0.87932	D	0	-2.555	5.2711	0.15624	0.8678:0.0:0.1322:0.0	.	8	Q6UXB2	VCC1_HUMAN	R	8	.	ENSP00000345317:L8R	L	-	2	0	CXCL17	47638802	0.955000	0.32602	0.075000	0.20258	0.055000	0.15305	2.315000	0.43752	0.646000	0.30693	0.454000	0.30748	CTC		0.498	CXCL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463872.1		
PTPRS	5802	hgsc.bcm.edu	37	19	5225784	5225784	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:5225784G>A	ENST00000587303.1	-	16	2547	c.2448C>T	c.(2446-2448)ggC>ggT	p.G816G	PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000348075.2_Silent_p.G794G|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000262963.6_Silent_p.G812G|PTPRS_ENST00000357368.4_Silent_p.G816G|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Silent_p.G794G|PTPRS_ENST00000372412.4_Silent_p.G817G			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	816	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.G816G(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)	GAGCGCCATCGCCCTTCATGG	0.627																																					p.G816G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2448T	19						.						124.0	90.0	102.0					19																	5225784		2203	4300	6503	5176784	SO:0001819	synonymous_variant	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.2448C>T	19.37:g.5225784G>A		Somatic		Capture	SOLID	Phase_I	5176784	NM_002850	O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	CCDS45930.1																																																																																				0.627	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
ERCC2	2068	hgsc.bcm.edu	37	19	45858959	45858959	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:45858959C>T	ENST00000391945.4	-	16	1584	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	ERCC2_ENST00000391944.3_Missense_Mutation_p.A425T	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	503	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.A503T(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GAGCTGATGGCCACCTGGTCA	0.582			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.A503T		yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1507A	19						.						110.0	91.0	97.0					19																	45858959		2203	4300	6503	50550799	SO:0001583	missense	2068	exon16	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1507G>A	19.37:g.45858959C>T	ENSP00000375809:p.Ala503Thr	Somatic		Capture	SOLID	Phase_I	50550799	NM_000400	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868800	0.51588	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	T;D	0.82344	-1.38;-1.6	5.68	4.65	0.58169	.	0.108147	0.64402	D	0.000007	T	0.74245	0.3691	L	0.39467	1.215	0.80722	D	1	B;B;B	0.19706	0.008;0.0;0.038	B;B;B	0.16289	0.015;0.01;0.015	T	0.67707	-0.5601	10	0.23891	T	0.37	-26.8678	10.7148	0.46006	0.0:0.9119:0.0:0.0881	.	425;503;196	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	T	453;479;503;425	ENSP00000375809:A503T;ENSP00000375808:A425T	ENSP00000375805:A453T	A	-	1	0	ERCC2	50550799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.010000	0.57117	1.411000	0.46957	0.561000	0.74099	GCC		0.582	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400	
PTPRS	5802	hgsc.bcm.edu	37	19	5258088	5258088	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:5258088A>G	ENST00000587303.1	-	7	745	c.646T>C	c.(646-648)Tgt>Cgt	p.C216R	PTPRS_ENST00000592099.1_Missense_Mutation_p.C207R|PTPRS_ENST00000348075.2_Missense_Mutation_p.C207R|PTPRS_ENST00000353284.2_Missense_Mutation_p.C207R|PTPRS_ENST00000357368.4_Missense_Mutation_p.C216R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.C207R|PTPRS_ENST00000262963.6_Missense_Mutation_p.C216R|PTPRS_ENST00000372412.4_Missense_Mutation_p.C217R			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	216	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GTGGCCACACACTCATATTTG	0.607																																					p.C216R												.	.	0			c.T646C	19						.						129.0	124.0	126.0					19																	5258088		2203	4300	6503	5209088	SO:0001583	missense	5802	exon8			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.646T>C	19.37:g.5258088A>G	ENSP00000467537:p.Cys216Arg	Somatic		Capture	SOLID	Phase_I	5209088	NM_002850	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076528	0.76415	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;D;D;T;T	0.99129	0.34;-5.46;-5.46;-0.56;-0.56	3.75	3.75	0.43078	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000001	D	0.99569	0.9845	H	0.98883	4.36	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.991;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.97110	0.767;0.974;0.998;1.0;1.0;0.999	D	0.97710	1.0190	10	0.87932	D	0	.	12.6585	0.56801	1.0:0.0:0.0:0.0	.	216;207;207;207;216;233	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	R	233;217;216;216;216;216;207;216;207;207	ENSP00000361489:C217R;ENSP00000349932:C216R;ENSP00000262963:C216R;ENSP00000269907:C207R;ENSP00000327313:C207R	ENSP00000262963:C216R	C	-	1	0	PTPRS	5209088	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.000000	0.93564	1.589000	0.49982	0.454000	0.30748	TGT		0.607	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
PRKD2	25865	hgsc.bcm.edu	37	19	47177916	47177916	+	Missense_Mutation	SNP	T	T	C	rs536277467		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:47177916T>C	ENST00000291281.4	-	18	2726	c.2501A>G	c.(2500-2502)gAc>gGc	p.D834G	DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000595515.1_Missense_Mutation_p.D844G|PRKD2_ENST00000433867.1_Missense_Mutation_p.D834G|DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000601806.1_Missense_Mutation_p.D677G|PRKD2_ENST00000600194.1_Missense_Mutation_p.D677G			Q9BZL6	KPCD2_HUMAN	protein kinase D2	834					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.D834G(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCAGCGCACGTCGTCACTCTC	0.637																																					p.D834G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2501G	19						.						78.0	57.0	64.0					19																	47177916		2203	4300	6503	51869756	SO:0001583	missense	25865	exon19			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2501A>G	19.37:g.47177916T>C	ENSP00000291281:p.Asp834Gly	Somatic		Capture	SOLID	Phase_I	51869756	NM_001079881	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.719955	0.89205	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.69685	-0.42;-0.42	4.79	4.79	0.61399	Protein kinase-like domain (1);	0.069116	0.53938	N	0.000046	T	0.79816	0.4511	M	0.81682	2.555	0.58432	D	0.999999	D;B;D	0.60160	0.987;0.2;0.987	P;B;P	0.61003	0.831;0.216;0.882	T	0.83312	-0.0022	10	0.87932	D	0	-37.0862	13.6095	0.62068	0.0:0.0:0.0:1.0	.	844;319;834	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	G	834	ENSP00000291281:D834G;ENSP00000393978:D834G	ENSP00000291281:D834G	D	-	2	0	PRKD2	51869756	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	7.916000	0.87491	1.917000	0.55516	0.533000	0.62120	GAC		0.637	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457	
CCDC114	93233	hgsc.bcm.edu	37	19	48806912	48806912	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:48806912A>G	ENST00000315396.7	-	8	1554	c.872T>C	c.(871-873)cTg>cCg	p.L291P		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	291					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)		p.L84P(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTCACTCTCCAGATACTTCTG	0.647																																					p.L291P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T872C	19						.						77.0	76.0	77.0					19																	48806912		2203	4300	6503	53498724	SO:0001583	missense	93233	exon8			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.872T>C	19.37:g.48806912A>G	ENSP00000318429:p.Leu291Pro	Somatic		Capture	SOLID	Phase_I	53498724	NM_144577	Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239135	0.58995	.	.	ENSG00000105479	ENST00000315396	T	0.25250	1.81	3.02	3.02	0.34903	.	.	.	.	.	T	0.45856	0.1363	M	0.75777	2.31	0.50813	D	0.999899	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.988	T	0.40365	-0.9567	9	0.54805	T	0.06	-14.7561	7.7343	0.28804	1.0:0.0:0.0:0.0	.	84;291;291	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	P	291	ENSP00000318429:L291P	ENSP00000318429:L291P	L	-	2	0	CCDC114	53498724	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.781000	0.47750	1.387000	0.46486	0.528000	0.53228	CTG		0.647	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577	
SHANK1	50944	hgsc.bcm.edu	37	19	51172537	51172537	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:51172537C>T	ENST00000293441.1	-	22	2698	c.2680G>A	c.(2680-2682)Gca>Aca	p.A894T	SYT3_ENST00000544769.1_5'Flank|SHANK1_ENST00000359082.3_Missense_Mutation_p.A885T|SHANK1_ENST00000391814.1_Missense_Mutation_p.A902T|SHANK1_ENST00000391813.1_Missense_Mutation_p.A281T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	894					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.A894T(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCATCTTCTGCCGCACCTGGG	0.592											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A894T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2680A	19						.						17.0	15.0	16.0					19																	51172537		2199	4298	6497	55864349	SO:0001583	missense	50944	exon22			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2680G>A	19.37:g.51172537C>T	ENSP00000293441:p.Ala894Thr	Somatic	975	Capture	SOLID	Phase_I	55864349	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700795	0.48307	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.36157	1.42;1.88;1.39;1.27	3.77	3.77	0.43336	.	2.072450	0.03450	U	0.210471	T	0.19525	0.0469	N	0.01352	-0.895	0.32619	N	0.523635	B;B	0.33135	0.399;0.361	B;B	0.39339	0.085;0.297	T	0.16188	-1.0411	10	0.02654	T	1	.	14.742	0.69464	0.0:1.0:0.0:0.0	.	894;281	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	T	894;281;885;902	ENSP00000293441:A894T;ENSP00000375689:A281T;ENSP00000351984:A885T;ENSP00000375690:A902T	ENSP00000293441:A894T	A	-	1	0	SHANK1	55864349	0.993000	0.37304	0.988000	0.46212	0.798000	0.45092	2.168000	0.42424	1.826000	0.53198	0.549000	0.68633	GCA		0.592	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
VN1R2	317701	hgsc.bcm.edu	37	19	53762343	53762343	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:53762343A>G	ENST00000341702.3	+	1	799	c.715A>G	c.(715-717)Aac>Gac	p.N239D		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	239					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.N239D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GAGCAACAACAACATCACAAA	0.418																																					p.N239D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A715G	19						.						91.0	85.0	87.0					19																	53762343		2203	4300	6503	58454155	SO:0001583	missense	317701	exon1			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.715A>G	19.37:g.53762343A>G	ENSP00000351244:p.Asn239Asp	Somatic		Capture	SOLID	Phase_I	58454155	NM_173856	A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.026193	0.35701	.	.	ENSG00000196131	ENST00000341702	T	0.04360	3.64	2.94	0.813	0.18749	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14830	0.0358	M	0.74258	2.255	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.15492	-1.0435	9	0.87932	D	0	.	2.2972	0.04153	0.5254:0.0:0.2567:0.2178	.	239	Q8NFZ6	VN1R2_HUMAN	D	239	ENSP00000351244:N239D	ENSP00000351244:N239D	N	+	1	0	VN1R2	58454155	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	1.453000	0.35167	0.118000	0.18165	0.486000	0.48141	AAC		0.418	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856	
CACNG8	59283	hgsc.bcm.edu	37	19	54466544	54466544	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:54466544C>A	ENST00000270458.2	+	1	251	c.148C>A	c.(148-150)Ctc>Atc	p.L50I		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	50					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.L50I(1)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CACGCGCGCCCTCATCTGCAA	0.711																																					p.L50I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C148A	19						.						36.0	35.0	35.0					19																	54466544		2203	4299	6502	59158356	SO:0001583	missense	59283	exon1			AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.148C>A	19.37:g.54466544C>A	ENSP00000270458:p.Leu50Ile	Somatic		Capture	SOLID	Phase_I	59158356	NM_031895	Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	C	9.772	1.172927	0.21704	.	.	ENSG00000142408	ENST00000270458	D	0.88586	-2.4	3.52	1.25	0.21368	.	0.272170	0.30695	U	0.009061	T	0.76800	0.4038	N	0.22421	0.69	0.22639	N	0.998904	B	0.20550	0.046	B	0.20384	0.029	T	0.65853	-0.6067	9	0.22706	T	0.39	-23.1533	5.6582	0.17654	0.0:0.2519:0.0:0.7481	.	50	Q8WXS5	CCG8_HUMAN	I	50	ENSP00000270458:L50I	ENSP00000270458:L50I	L	+	1	0	CACNG8	59158356	0.001000	0.12720	0.945000	0.38365	0.945000	0.59286	-0.233000	0.09041	0.032000	0.15435	0.297000	0.19635	CTC		0.711	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3		
KIR3DL3	115653	hgsc.bcm.edu	37	19	55239209	55239209	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:55239209A>G	ENST00000291860.1	+	4	506	c.488A>G	c.(487-489)gAc>gGc	p.D163G	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	163	Ig-like C2-type 2. {ECO:0000305}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D163G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		ATCACTGAGGACCCCTTGCGC	0.572																																					p.D163G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A488G	19						.						113.0	93.0	101.0					19																	55239209		1988	3441	5429	59931021	SO:0001583	missense	115653	exon4			AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.488A>G	19.37:g.55239209A>G	ENSP00000291860:p.Asp163Gly	Somatic		Capture	SOLID	Phase_I	59931021	NM_153443	A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	ENST00000291860.1	37	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	N	7.127	0.579169	0.13686	.	.	ENSG00000242019	ENST00000291860	T	0.02787	4.16	1.2	-0.0308	0.13912	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04452	0.0122	L	0.51853	1.615	0.09310	N	1	P	0.34815	0.47	B	0.43225	0.412	T	0.41142	-0.9525	9	0.87932	D	0	.	3.0955	0.06308	0.6128:0.0:0.0:0.3872	.	163	Q8N743	KI3L3_HUMAN	G	163	ENSP00000291860:D163G	ENSP00000291860:D163G	D	+	2	0	KIR3DL3	59931021	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.938000	0.03938	-0.077000	0.12752	0.172000	0.16884	GAC		0.572	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443	
KIR3DL1	3811	hgsc.bcm.edu	37	19	55333225	55333225	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:55333225C>T	ENST00000391728.4	+	5	894	c.861C>T	c.(859-861)caC>caT	p.H287H	KIR3DL1_ENST00000358178.4_Silent_p.H192H|KIR3DL1_ENST00000402254.2_Silent_p.H287H|KIR3DL1_ENST00000326542.7_Silent_p.H287H|KIR3DL1_ENST00000541392.1_Silent_p.H287H|KIR3DL1_ENST00000538269.1_Silent_p.H287H	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	287	Ig-like C2-type 3.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.H287H(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGCCACCCACGGAGGGACCT	0.582																																					p.H287H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C861T	19						.						4.0	4.0	4.0					19																	55333225		1672	3408	5080	60025037	SO:0001819	synonymous_variant	3811	exon5			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.861C>T	19.37:g.55333225C>T		Somatic		Capture	SOLID	Phase_I	60025037	NM_013289	O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	CCDS42621.1																																																																																				0.582	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289	
NLRP4	147945	hgsc.bcm.edu	37	19	56390277	56390277	+	Silent	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:56390277G>T	ENST00000301295.6	+	9	3236	c.2814G>T	c.(2812-2814)gtG>gtT	p.V938V	NLRP4_ENST00000587891.1_Silent_p.V863V|NLRP4_ENST00000346986.5_Silent_p.V882V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	938					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.V938V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACACAGGGGTGGTTGTACTCT	0.582																																					p.V938V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2814T	19						.						88.0	75.0	80.0					19																	56390277		2203	4300	6503	61082089	SO:0001819	synonymous_variant	147945	exon9			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2814G>T	19.37:g.56390277G>T		Somatic		Capture	SOLID	Phase_I	61082089	NM_134444	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	CCDS12936.1																																																																																				0.582	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
NLRP8	126205	hgsc.bcm.edu	37	19	56466080	56466080	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:56466080T>C	ENST00000291971.3	+	3	727	c.656T>C	c.(655-657)cTg>cCg	p.L219P	NLRP8_ENST00000590542.1_Missense_Mutation_p.L219P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	219	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L219P(2)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAAACAATCCTGGCCAAAAAG	0.527																																					p.L219P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T656C	19						.						90.0	72.0	78.0					19																	56466080		2203	4300	6503	61157892	SO:0001583	missense	126205	exon3			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.656T>C	19.37:g.56466080T>C	ENSP00000291971:p.Leu219Pro	Somatic		Capture	SOLID	Phase_I	61157892	NM_176811	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.315976	0.40996	.	.	ENSG00000179709	ENST00000291971	D	0.87650	-2.28	2.04	2.04	0.26737	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.91593	0.7344	M	0.77313	2.365	0.26138	N	0.98031	D;D	0.89917	1.0;1.0	D;D	0.91635	0.983;0.999	T	0.81158	-0.1060	9	0.87932	D	0	.	6.0859	0.19966	0.0:0.0:0.0:1.0	.	219;219	Q86W28-2;Q86W28	.;NALP8_HUMAN	P	219	ENSP00000291971:L219P	ENSP00000291971:L219P	L	+	2	0	NLRP8	61157892	0.000000	0.05858	0.010000	0.14722	0.140000	0.21249	0.055000	0.14229	1.193000	0.43086	0.421000	0.28195	CTG		0.527	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
NLRP8	126205	hgsc.bcm.edu	37	19	56466683	56466683	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:56466683G>C	ENST00000291971.3	+	3	1330	c.1259G>C	c.(1258-1260)tGt>tCt	p.C420S	NLRP8_ENST00000590542.1_Missense_Mutation_p.C420S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	420	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.C420S(2)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACACAGTCATGTCCAAATGCC	0.488																																					p.C420S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1259C	19						.						93.0	94.0	94.0					19																	56466683		2203	4300	6503	61158495	SO:0001583	missense	126205	exon3			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1259G>C	19.37:g.56466683G>C	ENSP00000291971:p.Cys420Ser	Somatic		Capture	SOLID	Phase_I	61158495	NM_176811	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	3.614	-0.078954	0.07141	.	.	ENSG00000179709	ENST00000291971	D	0.83837	-1.77	1.78	-1.39	0.08997	.	.	.	.	.	T	0.56156	0.1966	N	0.05230	-0.09	0.09310	N	1	P;P	0.40250	0.709;0.621	B;B	0.35550	0.201;0.205	T	0.52779	-0.8530	9	0.24483	T	0.36	.	2.1754	0.03861	0.2199:0.0:0.3609:0.4192	.	420;420	Q86W28-2;Q86W28	.;NALP8_HUMAN	S	420	ENSP00000291971:C420S	ENSP00000291971:C420S	C	+	2	0	NLRP8	61158495	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.442000	0.06871	-0.318000	0.08665	0.514000	0.50259	TGT		0.488	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
ZNF667	63934	hgsc.bcm.edu	37	19	56952984	56952984	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:56952984T>C	ENST00000504904.3	-	7	2099	c.1380A>G	c.(1378-1380)gaA>gaG	p.E460E	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.E460E|ZNF667_ENST00000342634.3_Silent_p.E588E			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	460					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.E460E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTCTTTGATGTTCAATAAGAA	0.363																																					p.E460E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1380G	19						.						55.0	56.0	56.0					19																	56952984		2203	4300	6503	61644796	SO:0001819	synonymous_variant	63934	exon5				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1380A>G	19.37:g.56952984T>C		Somatic		Capture	SOLID	Phase_I	61644796	NM_022103	B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	CCDS12944.1																																																																																				0.363	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	
PEG3	5178	hgsc.bcm.edu	37	19	57327380	57327380	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:57327380G>A	ENST00000326441.9	-	10	2793	c.2430C>T	c.(2428-2430)ttC>ttT	p.F810F	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.F686F|PEG3_ENST00000423103.2_Silent_p.F810F|PEG3_ENST00000593695.1_Silent_p.F684F|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	810					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.F810F(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)		TGATAGCATCGAAGCTCTGAA	0.468																																					p.F810F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2430T	19						.						141.0	134.0	136.0					19																	57327380		2203	4300	6503	62019192	SO:0001819	synonymous_variant	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.2430C>T	19.37:g.57327380G>A		Somatic		Capture	SOLID	Phase_I	62019192	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
ZNF550	162972	hgsc.bcm.edu	37	19	58058532	58058532	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:58058532C>T	ENST00000457177.1	-	4	1260	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000325134.5_Silent_p.Q328Q|ZNF550_ENST00000506609.2_Silent_p.Q319Q|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	360					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.Q319Q(1)		endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCGCTGGTGCTGTATGAGTT	0.512																																					p.Q319Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G957A	19						.						107.0	90.0	96.0					19																	58058532		2203	4300	6503	62750344	SO:0001819	synonymous_variant	162972	exon2			AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.1080G>A	19.37:g.58058532C>T		Somatic		Capture	SOLID	Phase_I	62750344	NM_001039654	B3KVF6|O43337|Q7Z6D7|Q8NE45	Silent	SNP	ENST00000457177.1	37																																																																																					0.512	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231	
ABCA7	10347	hgsc.bcm.edu	37	19	1041422	1041422	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:1041422A>C	ENST00000263094.6	+	2	293	c.62A>C	c.(61-63)cAg>cCg	p.Q21P	ABCA7_ENST00000433129.1_Missense_Mutation_p.Q21P|ABCA7_ENST00000435683.2_5'Flank|AC011558.5_ENST00000585757.1_RNA	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	21					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.Q21P(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGGAGACAGCCGGTAACG	0.637																																					p.Q21P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A62C	19						.						99.0	94.0	95.0					19																	1041422		2203	4300	6503	992422	SO:0001583	missense	10347	exon2			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.62A>C	19.37:g.1041422A>C	ENSP00000263094:p.Gln21Pro	Somatic		Capture	SOLID	Phase_I	992422	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470614	0.84533	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000531467;ENST00000433129	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	4.78	4.78	0.61160	.	.	.	.	.	D	0.93383	0.7890	L	0.61036	1.89	0.38947	D	0.958265	D;D	0.71674	0.997;0.998	P;D	0.65874	0.899;0.939	D	0.94324	0.7556	9	0.66056	D	0.02	.	12.2427	0.54553	1.0:0.0:0.0:0.0	.	21;21	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	P	21	ENSP00000263094:Q21P;ENSP00000431473:Q21P;ENSP00000433545:Q21P;ENSP00000414062:Q21P	ENSP00000263094:Q21P	Q	+	2	0	ABCA7	992422	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	6.829000	0.75314	1.788000	0.52465	0.460000	0.39030	CAG		0.637	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
CRB3	92359	hgsc.bcm.edu	37	19	6465575	6465575	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:6465575T>C	ENST00000598494.1	+	3	633	c.102T>C	c.(100-102)aaT>aaC	p.N34N	CRB3_ENST00000600229.1_Silent_p.N34N|CRB3_ENST00000356762.3_Silent_p.N34N|CRB3_ENST00000308243.7_Silent_p.N34N			Q9BUF7	CRUM3_HUMAN	crumbs family member 3	34					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein localization to plasma membrane (GO:0072659)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|SH3 domain binding (GO:0017124)	p.N34N(1)		endometrium(1)|large_intestine(1)|lung(1)	3						CTTCTGCAAATGAGAATAGCA	0.507																																					p.N34N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T102C	19						.						423.0	346.0	372.0					19																	6465575		2203	4300	6503	6416575	SO:0001819	synonymous_variant	92359	exon3			AF503290	CCDS12166.1, CCDS12167.1	19p13.3	2014-02-06	2014-02-06		ENSG00000130545	ENSG00000130545			20237	protein-coding gene	gene with protein product		609737	"""crumbs homolog 3 (Drosophila)"""				Standard	XM_005259680		Approved	MGC17303	uc002mez.3	Q9BUF7	OTTHUMG00000181828	ENST00000598494.1:c.102T>C	19.37:g.6465575T>C		Somatic		Capture	SOLID	Phase_I	6416575	NM_174881	A8KA91|D6W643|Q8N0V8|Q8WVA0	Silent	SNP	ENST00000598494.1	37	CCDS12167.1																																																																																				0.507	CRB3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457837.1		
CD209	30835	hgsc.bcm.edu	37	19	7808054	7808054	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:7808054A>G	ENST00000315599.7	-	7	1108	c.1086T>C	c.(1084-1086)aaT>aaC	p.N362N	CD209_ENST00000601951.1_Silent_p.N338N|CD209_ENST00000593660.1_Silent_p.N292N|CD209_ENST00000204801.8_Silent_p.N318N|CD209_ENST00000593821.1_Silent_p.N226N|CD209_ENST00000602261.1_Silent_p.N270N|CD209_ENST00000301357.8_Silent_p.N226N|CD209_ENST00000394161.5_Silent_p.N126N|CD209_ENST00000315591.8_Silent_p.N338N|CD209_ENST00000394173.4_Silent_p.N201N|CD209_ENST00000354397.6_Silent_p.N356N	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	362	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.N362N(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CGTTCCAGCCATTGCCACTAA	0.512																																					p.N318N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T954C	19						.						253.0	233.0	240.0					19																	7808054		2203	4300	6503	7714054	SO:0001819	synonymous_variant	30835	exon5			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.1086T>C	19.37:g.7808054A>G		Somatic		Capture	SOLID	Phase_I	7714054	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																																																																																				0.512	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155	
ZNF552	79818	hgsc.bcm.edu	37	19	58320027	58320027	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr19:58320027A>T	ENST00000391701.1	-	3	774	c.605T>A	c.(604-606)gTg>gAg	p.V202E	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V202E(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAACAGAGACACACACTCAGT	0.468																																					p.V202E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T605A	19						.						146.0	126.0	133.0					19																	58320027		2203	4300	6503	63011839	SO:0001583	missense	79818	exon3			AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.605T>A	19.37:g.58320027A>T	ENSP00000375582:p.Val202Glu	Somatic		Capture	SOLID	Phase_I	63011839	NM_024762	B3KUE9|Q6P5A6	Missense_Mutation	SNP	ENST00000391701.1	37	CCDS12963.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.478723	0.00165	.	.	ENSG00000178935	ENST00000391701	T	0.04970	3.52	1.4	-2.8	0.05823	.	.	.	.	.	T	0.01800	0.0057	N	0.01446	-0.86	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.41466	-0.9507	9	0.37606	T	0.19	.	0.3383	0.00329	0.2251:0.3154:0.2138:0.2456	.	198;202	B7Z1H1;Q9H707	.;ZN552_HUMAN	E	202	ENSP00000375582:V202E	ENSP00000375582:V202E	V	-	2	0	ZNF552	63011839	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.739000	0.01840	-1.599000	0.01605	0.172000	0.16884	GTG		0.468	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762	
UBR5	51366	hgsc.bcm.edu	37	8	103311189	103311189	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:103311189T>C	ENST00000520539.1	-	25	3819	c.3213A>G	c.(3211-3213)acA>acG	p.T1071T	UBR5_ENST00000220959.4_Silent_p.T1071T|UBR5_ENST00000521922.1_Silent_p.T1065T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1071					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.T1071T(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAGATGGCTCTGTGGAAGGAC	0.413																																					p.T1071T	Ovarian(131;96 1741 5634 7352 27489)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3213G	8						.						123.0	114.0	117.0					8																	103311189		2203	4300	6503	103380365	SO:0001819	synonymous_variant	51366	exon25			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3213A>G	8.37:g.103311189T>C		Somatic		Capture	SOLID	Phase_I	103380365	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.327420	0.24080	.	.	ENSG00000104517	ENST00000520898;ENST00000519365	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	T	0.73016	0.3533	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72057	-0.4405	4	.	.	.	.	16.1016	0.81175	0.0:0.0:0.0:1.0	.	.	.	.	G	161;170	.	.	R	-	1	2	UBR5	103380365	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	0.127000	0.15790	2.274000	0.75844	0.477000	0.44152	AGA		0.413	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
DCAF13	25879	hgsc.bcm.edu	37	8	104447883	104447883	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:104447883A>G	ENST00000297579.5	+	8	1548	c.1271A>G	c.(1270-1272)gAc>gGc	p.D424G	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	272					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.D424G(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CGTGCACTGGACACTCCTGTA	0.368																																					p.D424G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1271G	8						.						124.0	107.0	112.0					8																	104447883		2203	4300	6503	104517059	SO:0001583	missense	25879	exon8			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1271A>G	8.37:g.104447883A>G	ENSP00000297579:p.Asp424Gly	Somatic		Capture	SOLID	Phase_I	104517059	NM_015420	Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.136592	0.37728	.	.	ENSG00000164934	ENST00000297579	T	0.73047	-0.71	4.99	3.75	0.43078	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.208186	0.48767	D	0.000166	T	0.42787	0.1218	N	0.01454	-0.855	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.42137	-0.9469	10	0.45353	T	0.12	-21.8464	11.7782	0.51997	0.7385:0.2615:0.0:0.0	.	272	Q9NV06	DCA13_HUMAN	G	424	ENSP00000297579:D424G	ENSP00000297579:D424G	D	+	2	0	DCAF13	104517059	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.727000	0.61993	1.998000	0.58463	0.528000	0.53228	GAC		0.368	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420	
TRHR	7201	hgsc.bcm.edu	37	8	110131595	110131595	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:110131595A>G	ENST00000518632.1	+	3	1459	c.1108A>G	c.(1108-1110)Atc>Gtc	p.I370V	TRHR_ENST00000311762.2_Missense_Mutation_p.I370V			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	370					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)	p.I370V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GCTTGATGATATCACTGTCAC	0.443																																					p.I370V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1108G	8						.						128.0	117.0	121.0					8																	110131595		2203	4299	6502	110200771	SO:0001583	missense	7201	exon2				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.1108A>G	8.37:g.110131595A>G	ENSP00000430711:p.Ile370Val	Somatic		Capture	SOLID	Phase_I	110200771	NM_003301	Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	A	6.949	0.544861	0.13312	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.64438	-0.1;-0.1	5.56	1.76	0.24704	.	0.148727	0.46145	N	0.000313	T	0.44498	0.1296	L	0.39633	1.23	0.34845	D	0.741087	B	0.14438	0.01	B	0.13407	0.009	T	0.33979	-0.9847	10	0.17369	T	0.5	-14.3314	5.1283	0.14896	0.6395:0.1418:0.2187:0.0	.	370	P34981	TRFR_HUMAN	V	370	ENSP00000430711:I370V;ENSP00000309818:I370V	ENSP00000309818:I370V	I	+	1	0	TRHR	110200771	0.051000	0.20477	0.252000	0.24328	0.963000	0.63663	1.107000	0.31110	0.122000	0.18314	0.477000	0.44152	ATC		0.443	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1		
CSMD3	114788	hgsc.bcm.edu	37	8	113299309	113299309	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:113299309C>T	ENST00000297405.5	-	58	9559	c.9315G>A	c.(9313-9315)agG>agA	p.R3105R	CSMD3_ENST00000352409.3_Silent_p.R3035R|CSMD3_ENST00000343508.3_Silent_p.R3065R|CSMD3_ENST00000455883.2_Silent_p.R2936R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3105	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R3105R(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						ACTCTGGCTGCCTTCCGGTCC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.R3105R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G9315A	8						.						154.0	136.0	142.0					8																	113299309		2203	4300	6503	113368485	SO:0001819	synonymous_variant	114788	exon58			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.9315G>A	8.37:g.113299309C>T		Somatic		Capture	SOLID	Phase_I	113368485	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	hgsc.bcm.edu	37	8	113585788	113585788	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:113585788C>T	ENST00000297405.5	-	24	4228	c.3984G>A	c.(3982-3984)tgG>tgA	p.W1328*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W1328*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W1288*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W1224*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1328	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W1328*(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						TAAATTCTAGCCAGAGTTGAT	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.W1328X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3984A	8						.						130.0	131.0	130.0					8																	113585788		2203	4300	6503	113654964	SO:0001587	stop_gained	114788	exon24			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.3984G>A	8.37:g.113585788C>T	ENSP00000297405:p.Trp1328*	Somatic		Capture	SOLID	Phase_I	113654964	NM_198123	Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	45	11.718680	0.99595	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	17.8333	0.88689	0.0:1.0:0.0:0.0	.	.	.	.	X	1288;1328;668;1224;1328	.	ENSP00000297405:W1328X	W	-	3	0	CSMD3	113654964	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.455000	0.80726	2.403000	0.81681	0.591000	0.81541	TGG		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
RAD21	5885	hgsc.bcm.edu	37	8	117864937	117864937	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:117864937C>T	ENST00000297338.2	-	10	1459	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	RAD21_ENST00000523986.1_5'Flank|RAD21_ENST00000518055.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	391	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R391H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGTAAGACAGCGTGTAAAGAG	0.318																																					p.R391H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1172A	8						.						67.0	66.0	66.0					8																	117864937		2203	4300	6503	117934118	SO:0001583	missense	5885	exon10			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1172G>A	8.37:g.117864937C>T	ENSP00000297338:p.Arg391His	Somatic		Capture	SOLID	Phase_I	117934118	NM_006265	A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034102	0.93575	.	.	ENSG00000164754	ENST00000297338	T	0.64260	-0.09	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.79975	0.4539	M	0.78801	2.425	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.77531	-0.2553	10	0.33141	T	0.24	3.2834	19.4713	0.94963	0.0:1.0:0.0:0.0	.	391	O60216	RAD21_HUMAN	H	391	ENSP00000297338:R391H	ENSP00000297338:R391H	R	-	2	0	RAD21	117934118	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.625000	0.83145	2.587000	0.87381	0.563000	0.77884	CGC		0.318	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265	
SGCZ	137868	hgsc.bcm.edu	37	8	14022201	14022201	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:14022201A>G	ENST00000382080.1	-	5	1150	c.435T>C	c.(433-435)gcT>gcC	p.A145A	SGCZ_ENST00000421524.2_Silent_p.A98A|RP11-3G21.1_ENST00000527110.1_RNA	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	132					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.A145A(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)		GAGCTTCCACAGCATCAGCTC	0.398																																					p.A145A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T435C	8						.						98.0	84.0	89.0					8																	14022201		2203	4300	6503	14066572	SO:0001819	synonymous_variant	137868	exon5			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.435T>C	8.37:g.14022201A>G		Somatic		Capture	SOLID	Phase_I	14066572	NM_139167	Q6REU0	Silent	SNP	ENST00000382080.1	37	CCDS5992.2																																																																																				0.398	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167	
DEPTOR	64798	hgsc.bcm.edu	37	8	121061895	121061895	+	Silent	SNP	G	G	A	rs141413416		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:121061895G>A	ENST00000286234.5	+	9	1312	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	DEPTOR_ENST00000523492.1_Silent_p.T293T	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	394	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)		p.T394T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TGATTCTGACGGGCCCACGGA	0.547																																					p.T394T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1182A	8						.	G		4,4402	8.1+/-20.4	0,4,2199	164.0	140.0	148.0		1182	-9.9	0.8	8	dbSNP_134	148	0,8600		0,0,4300	no	coding-synonymous	DEPTOR	NM_022783.2		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		394/410	121061895	4,13002	2203	4300	6503	121131076	SO:0001819	synonymous_variant	64798	exon9				CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.1182G>A	8.37:g.121061895G>A		Somatic		Capture	SOLID	Phase_I	121131076	NM_022783	B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Silent	SNP	ENST00000286234.5	37	CCDS6331.1																																																																																				0.547	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783	
ZNF596	169270	hgsc.bcm.edu	37	8	196098	196098	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:196098A>C	ENST00000398612.1	+	6	1634	c.1251A>C	c.(1249-1251)aaA>aaC	p.K417N	ZNF596_ENST00000320552.2_Missense_Mutation_p.K347N|ZNF596_ENST00000308811.4_Missense_Mutation_p.K417N	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	417					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.K417N(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)		CTGGAGAAAAACCATATGAAT	0.433																																					p.K417N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1251C	8						.						121.0	105.0	111.0					8																	196098		2203	4300	6503	186098	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.1251A>C	8.37:g.196098A>C	ENSP00000381613:p.Lys417Asn	Somatic		Capture	SOLID	Phase_I	186098	NM_001042416	B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	13.36	2.213120	0.39102	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.26067	1.76;1.76;1.76	2.72	-1.22	0.09494	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44912	0.1316	M	0.80616	2.505	0.27531	N	0.951094	D	0.89917	1.0	D	0.97110	1.0	T	0.31861	-0.9928	9	0.72032	D	0.01	.	3.917	0.09227	0.5835:0.1858:0.2308:0.0	.	417	Q8TC21	ZN596_HUMAN	N	417;347;417	ENSP00000310033:K417N;ENSP00000318719:K347N;ENSP00000381613:K417N	ENSP00000310033:K417N	K	+	3	2	ZNF596	186098	0.975000	0.34042	0.897000	0.35233	0.479000	0.33129	0.446000	0.21694	-0.247000	0.09597	0.533000	0.62120	AAA		0.433	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539	
SGCZ	137868	hgsc.bcm.edu	37	8	14412370	14412370	+	Silent	SNP	T	T	C	rs138373417	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:14412370T>C	ENST00000382080.1	-	2	820	c.105A>G	c.(103-105)caA>caG	p.Q35Q	SGCZ_ENST00000421524.2_Silent_p.Q22Q	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	22					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.Q35Q(2)		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)		CTGGGTAAAGTTGTGCATTCT	0.388																																					p.Q35Q												.	.	2	Substitution - coding silent(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.A105G	8						.	T		2,4404	4.2+/-10.8	0,2,2201	245.0	235.0	238.0		105	-5.2	0.3	8	dbSNP_134	238	0,8600		0,0,4300	no	coding-synonymous	SGCZ	NM_139167.2		0,2,6501	CC,CT,TT		0.0,0.0454,0.0154		35/313	14412370	2,13004	2203	4300	6503	14456741	SO:0001819	synonymous_variant	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.105A>G	8.37:g.14412370T>C		Somatic		Capture	SOLID	Phase_I	14456741	NM_139167	Q6REU0	Silent	SNP	ENST00000382080.1	37	CCDS5992.2																																																																																				0.388	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	22052421	22052421	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:22052421A>G	ENST00000306385.5	+	12	2298	c.1628A>G	c.(1627-1629)aAc>aGc	p.N543S	BMP1_ENST00000306349.8_Missense_Mutation_p.N543S|BMP1_ENST00000397816.3_Missense_Mutation_p.N543S|BMP1_ENST00000397814.3_Missense_Mutation_p.N543S|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	543	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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.N543S(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)		TTTGCCGTCAACTTTTTCAAA	0.537																																					p.N543S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1628G	8						.						80.0	81.0	80.0					8																	22052421		2203	4300	6503	22108366	SO:0001583	missense	649	exon12				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.1628A>G	8.37:g.22052421A>G	ENSP00000305714:p.Asn543Ser	Somatic		Capture	SOLID	Phase_I	22108366	NM_006129	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.239156	0.39598	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.25	5.25	0.73442	CUB (5);	0.000000	0.41712	U	0.000828	T	0.08935	0.0221	N	0.03238	-0.38	0.80722	D	1	B;B;B;B	0.33103	0.095;0.156;0.397;0.091	B;B;B;B	0.36666	0.156;0.17;0.23;0.069	T	0.39440	-0.9614	10	0.14656	T	0.56	.	14.1289	0.65240	1.0:0.0:0.0:0.0	.	543;616;543;543	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	S	543	ENSP00000305714:N543S;ENSP00000380917:N543S;ENSP00000306121:N543S;ENSP00000380915:N543S	ENSP00000306121:N543S	N	+	2	0	BMP1	22108366	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.117000	0.71577	1.973000	0.57446	0.379000	0.24179	AAC		0.537	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132	
DPYSL2	1808	hgsc.bcm.edu	37	8	26492332	26492332	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:26492332G>A	ENST00000311151.5	+	8	1139	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	DPYSL2_ENST00000521913.1_Missense_Mutation_p.A207T|DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000523027.1_Missense_Mutation_p.A207T	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	243					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)	p.A243T(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CATCACCATCGCCAACCAGAC	0.582																																					p.A243T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G727A	8						.						150.0	121.0	131.0					8																	26492332		2203	4300	6503	26548249	SO:0001583	missense	1808	exon8			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.727G>A	8.37:g.26492332G>A	ENSP00000309539:p.Ala243Thr	Somatic		Capture	SOLID	Phase_I	26548249	NM_001386	A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	G	37	6.222576	0.97390	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.8	5.8	0.92144	Amidohydrolase 1 (1);	0.057489	0.64402	D	0.000001	D	0.95981	0.8691	M	0.90759	3.145	0.80722	D	1	D;P;D	0.63880	0.988;0.878;0.993	P;B;P	0.53912	0.628;0.297;0.737	D	0.95903	0.8917	10	0.56958	D	0.05	-23.4574	20.0537	0.97638	0.0:0.0:1.0:0.0	.	243;243;299	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	T	207;243;243;207	ENSP00000427985:A207T;ENSP00000309539:A243T;ENSP00000428909:A243T;ENSP00000431117:A207T	ENSP00000309539:A243T	A	+	1	0	DPYSL2	26548249	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.869000	0.99810	2.758000	0.94735	0.561000	0.74099	GCC		0.582	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386	
EXTL3	2137	hgsc.bcm.edu	37	8	28574953	28574953	+	Silent	SNP	C	C	T	rs140439239	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:28574953C>T	ENST00000220562.4	+	3	2279	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.A75A	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	459					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.A459A(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AAGTCGGTGCCGTCCCGGTGG	0.632																																					p.A459A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1377T	8						.	C		3,4403	6.2+/-15.9	0,3,2200	55.0	58.0	57.0		1377	-5.5	1.0	8	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EXTL3	NM_001440.2		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		459/920	28574953	4,13002	2203	4300	6503	28630872	SO:0001819	synonymous_variant	2137	exon3			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1377C>T	8.37:g.28574953C>T		Somatic		Capture	SOLID	Phase_I	28630872	NM_001440	D3DST8|O00225|Q53XT3	Silent	SNP	ENST00000220562.4	37	CCDS6070.1																																																																																				0.632	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440	
WRN	7486	hgsc.bcm.edu	37	8	30938676	30938676	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:30938676T>C	ENST00000298139.5	+	9	1382	c.1133T>C	c.(1132-1134)gTa>gCa	p.V378A		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	378					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.V378A(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAAGATGGAGTAGAAGACAAC	0.363			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												p.V378A	Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1133C	8						.						113.0	114.0	114.0					8																	30938676		2203	4300	6503	31058218	SO:0001583	missense	7486	exon9	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1133T>C	8.37:g.30938676T>C	ENSP00000298139:p.Val378Ala	Somatic		Capture	SOLID	Phase_I	31058218	NM_000553	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	T	5.184	0.219410	0.09863	.	.	ENSG00000165392	ENST00000298139	T	0.42513	0.97	5.47	1.3	0.21679	.	1.647460	0.03004	N	0.148591	T	0.14442	0.0349	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21690	-1.0238	10	0.12103	T	0.63	0.696	1.2842	0.02047	0.1414:0.2072:0.1496:0.5018	.	378	Q14191	WRN_HUMAN	A	378	ENSP00000298139:V378A	ENSP00000298139:V378A	V	+	2	0	WRN	31058218	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.042000	0.12063	0.344000	0.23847	-0.280000	0.10049	GTA		0.363	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1		
NRG1	3084	hgsc.bcm.edu	37	8	32505523	32505523	+	Intron	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:32505523A>C	ENST00000405005.3	+	5	502				NRG1_ENST00000341377.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.K96T|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000523079.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.K96T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCCGGCCTCAAGTGGGTATTT	0.537																																					p.K96T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A287C	8						.						113.0	114.0	114.0					8																	32505523		2203	4300	6503	32625065	SO:0001627	intron_variant	3084	exon1			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31120A>C	8.37:g.32505523A>C		Somatic		Capture	SOLID	Phase_I	32625065	NM_013959	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.851585	0.71719	.	.	ENSG00000157168	ENST00000520502;ENST00000523041	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	T	0.68229	0.2978	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71217	-0.4658	8	0.87932	D	0	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	96;96	Q53F54;Q02297-10	.;.	T	96;56	.	ENSP00000433289:K96T	K	+	2	0	NRG1	32625065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.816000	0.91979	2.326000	0.78906	0.533000	0.62120	AAG		0.537	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1		
TTI2	80185	hgsc.bcm.edu	37	8	33356730	33356730	+	Silent	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:33356730C>A	ENST00000431156.2	-	8	2106	c.1488G>T	c.(1486-1488)gtG>gtT	p.V496V	TTI2_ENST00000519356.1_Intron|TTI2_ENST00000360742.5_Silent_p.V496V|MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000520636.1_Silent_p.V465V	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	496								p.V496V(1)									AAACCTGCTGCACTTTTCTGA	0.408																																					p.V496V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1488T	8						.						103.0	102.0	102.0					8																	33356730		2203	4300	6503	33476272	SO:0001819	synonymous_variant	80185	exon7			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.1488G>T	8.37:g.33356730C>A		Somatic		Capture	SOLID	Phase_I	33476272	NM_025115	D3DSV7|Q96IM2|Q9H5N4	Silent	SNP	ENST00000431156.2	37	CCDS6090.1																																																																																				0.408	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115	
ANK1	286	hgsc.bcm.edu	37	8	41522337	41522337	+	Intron	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:41522337G>A	ENST00000347528.4	-	40	5478				ANK1_ENST00000522231.1_Missense_Mutation_p.R69W|ANK1_ENST00000457297.1_Missense_Mutation_p.R69W|ANK1_ENST00000265709.8_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000396942.1_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000289734.7_Intron|RP11-930P14.1_ENST00000585088.1_RNA|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000522543.1_Missense_Mutation_p.R69W|ANK1_ENST00000314214.8_Missense_Mutation_p.R69W	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						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.R69W(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)			AGGAAGACCCGCCGCCGGACC	0.692																																					p.R69W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C205T	8						.						36.0	29.0	31.0					8																	41522337		2203	4298	6501	41641494	SO:0001627	intron_variant	286	exon1			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.5395-1077C>T	8.37:g.41522337G>A		Somatic		Capture	SOLID	Phase_I	41641494	NM_001142445	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794381	0.70452	.	.	ENSG00000029534	ENST00000457297;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000348036;ENST00000335651	D;D;D	0.87887	-1.91;-2.31;-2.3	5.9	3.08	0.35506	.	.	.	.	.	D	0.91583	0.7341	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.985;0.999;0.999;0.996	D	0.89937	0.4070	9	0.87932	D	0	.	8.2985	0.31999	0.0691:0.0:0.535:0.3959	.	69;69;69;69	Q6PK32;A0PJN8;Q53ER1;E5RFL7	.;.;.;.	W	69	ENSP00000428750:R69W;ENSP00000430368:R69W;ENSP00000319123:R69W	ENSP00000319123:R69W	R	-	1	2	ANK1	41641494	0.991000	0.36638	0.675000	0.29917	0.721000	0.41392	2.134000	0.42102	0.365000	0.24400	0.563000	0.77884	CGG		0.692	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
ANK1	286	hgsc.bcm.edu	37	8	41573227	41573227	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:41573227A>G	ENST00000347528.4	-	14	1628	c.1545T>C	c.(1543-1545)caT>caC	p.H515H	ANK1_ENST00000265709.8_Silent_p.H548H|ANK1_ENST00000396942.1_Silent_p.H515H|ANK1_ENST00000396945.1_Silent_p.H515H|ANK1_ENST00000352337.4_Silent_p.H515H|ANK1_ENST00000289734.7_Silent_p.H515H|ANK1_ENST00000379758.2_Silent_p.H515H	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	515	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.H515H(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)			CTGTTTCCACATGGCCCTCAC	0.597																																					p.H515H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1545C	8						.						93.0	83.0	86.0					8																	41573227		2203	4300	6503	41692384	SO:0001819	synonymous_variant	286	exon14			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.1545T>C	8.37:g.41573227A>G		Somatic		Capture	SOLID	Phase_I	41692384	NM_020475	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1																																																																																				0.597	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
ANK1	286	hgsc.bcm.edu	37	8	41615582	41615582	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:41615582T>C	ENST00000347528.4	-	2	184	c.101A>G	c.(100-102)aAt>aGt	p.N34S	ANK1_ENST00000265709.8_Missense_Mutation_p.N67S|ANK1_ENST00000396942.1_Missense_Mutation_p.N34S|ANK1_ENST00000396945.1_Missense_Mutation_p.N34S|ANK1_ENST00000352337.4_Missense_Mutation_p.N34S|ANK1_ENST00000289734.7_Missense_Mutation_p.N34S|ANK1_ENST00000379758.2_Missense_Mutation_p.N34S	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	34	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.N34S(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)			ATCTACCCCATTCCGCAGGTG	0.502																																					p.N34S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A101G	8						.						346.0	330.0	336.0					8																	41615582		2203	4300	6503	41734739	SO:0001583	missense	286	exon2			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.101A>G	8.37:g.41615582T>C	ENSP00000339620:p.Asn34Ser	Somatic		Capture	SOLID	Phase_I	41734739	NM_020475	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.781087	0.70222	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.54	5.54	0.83059	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	N	0.05050	-0.12	0.80722	D	1	D;D;B;B;D	0.89917	1.0;0.998;0.102;0.196;1.0	D;D;B;B;D	0.91635	0.999;0.998;0.04;0.101;0.999	T	0.60110	-0.7327	10	0.15952	T	0.53	.	15.9708	0.80019	0.0:0.0:0.0:1.0	.	67;34;34;34;34	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	S	34;34;34;34;34;34;67;34	ENSP00000339620:N34S;ENSP00000289734:N34S;ENSP00000369082:N34S;ENSP00000380149:N34S;ENSP00000380147:N34S;ENSP00000309131:N34S;ENSP00000265709:N67S	ENSP00000265709:N67S	N	-	2	0	ANK1	41734739	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.632000	0.67819	2.234000	0.73211	0.460000	0.39030	AAT		0.502	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
KAT6A	7994	hgsc.bcm.edu	37	8	41798947	41798947	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:41798947A>G	ENST00000396930.3	-	16	2995	c.2452T>C	c.(2452-2454)Tct>Cct	p.S818P	KAT6A_ENST00000265713.2_Missense_Mutation_p.S818P|KAT6A_ENST00000406337.1_Missense_Mutation_p.S818P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	818					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S818P(1)									TTCTCATGAGACACAGACTTT	0.348																																					p.S818P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2452C	8						.						56.0	55.0	55.0					8																	41798947		2203	4300	6503	41918104	SO:0001583	missense	7994	exon16			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2452T>C	8.37:g.41798947A>G	ENSP00000380136:p.Ser818Pro	Somatic		Capture	SOLID	Phase_I	41918104	NM_001099413	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	A	4.821	0.152726	0.09185	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.60299	0.2;0.2;0.2	5.67	4.49	0.54785	.	0.521097	0.19254	N	0.118845	T	0.46560	0.1399	L	0.29908	0.895	0.33429	D	0.580909	P	0.46395	0.877	B	0.41860	0.368	T	0.59144	-0.7509	10	0.48119	T	0.1	-6.7204	11.5807	0.50889	0.851:0.149:0.0:0.0	.	818	Q92794	KAT6A_HUMAN	P	818;818;818;398	ENSP00000265713:S818P;ENSP00000385888:S818P;ENSP00000380136:S818P	ENSP00000265713:S818P	S	-	1	0	KAT6A	41918104	0.954000	0.32549	0.017000	0.16124	0.090000	0.18270	3.236000	0.51336	0.937000	0.37394	0.533000	0.62120	TCT		0.348	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
RP1	6101	hgsc.bcm.edu	37	8	55541955	55541955	+	Missense_Mutation	SNP	G	G	A	rs576959220		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:55541955G>A	ENST00000220676.1	+	4	5661	c.5513G>A	c.(5512-5514)cGc>cAc	p.R1838H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1838					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.R1838H(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTGGATGTTCGCAATGAAACC	0.423													G|||	1	0.000199681	0.0	0.0014	5008	,	,		23949	0.0		0.0	False		,,,				2504	0.0				p.R1838H	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5513A	8						.						95.0	88.0	90.0					8																	55541955		2203	4300	6503	55704508	SO:0001583	missense	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5513G>A	8.37:g.55541955G>A	ENSP00000220676:p.Arg1838His	Somatic		Capture	SOLID	Phase_I	55704508	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	0.747	-0.774169	0.02951	.	.	ENSG00000104237	ENST00000220676	T	0.42513	0.97	6.03	2.33	0.28932	.	0.506639	0.16231	N	0.223614	T	0.29093	0.0723	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	10	0.30854	T	0.27	.	10.0814	0.42393	0.8327:0.0:0.0613:0.106	.	1838	P56715	RP1_HUMAN	H	1838	ENSP00000220676:R1838H	ENSP00000220676:R1838H	R	+	2	0	RP1	55704508	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	0.482000	0.22276	0.167000	0.19631	-0.960000	0.02634	CGC		0.423	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
IMPAD1	54928	hgsc.bcm.edu	37	8	57890679	57890679	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:57890679A>G	ENST00000262644.4	-	3	834	c.576T>C	c.(574-576)acT>acC	p.T192T		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	192					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)	p.T192T(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CACACACCATAGTAGTGACGT	0.333																																					p.T192T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T576C	8						.						135.0	135.0	135.0					8																	57890679		2203	4300	6503	58053233	SO:0001819	synonymous_variant	54928	exon3				CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.576T>C	8.37:g.57890679A>G		Somatic		Capture	SOLID	Phase_I	58053233	NM_017813	Q6NVY7	Silent	SNP	ENST00000262644.4	37	CCDS6169.1																																																																																				0.333	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813	
CPA6	57094	hgsc.bcm.edu	37	8	68430246	68430246	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:68430246A>G	ENST00000297770.4	-	3	444	c.229T>C	c.(229-231)Tca>Cca	p.S77P	CPA6_ENST00000518549.1_Missense_Mutation_p.S77P|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	77						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S77P(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GTTCCCTCTGATACATAGGAG	0.478																																					p.S77P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T229C	8						.						114.0	103.0	107.0					8																	68430246		2203	4300	6503	68592800	SO:0001583	missense	57094	exon3			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.229T>C	8.37:g.68430246A>G	ENSP00000297770:p.Ser77Pro	Somatic		Capture	SOLID	Phase_I	68592800	NM_020361	Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.594581	0.66219	.	.	ENSG00000165078	ENST00000297770;ENST00000518549	T;T	0.15603	2.41;2.41	6.06	4.89	0.63831	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.642740	0.16178	N	0.225959	T	0.27967	0.0689	L	0.53249	1.67	0.80722	D	1	D;P	0.64830	0.994;0.769	P;P	0.56751	0.805;0.544	T	0.01283	-1.1396	10	0.34782	T	0.22	.	8.3755	0.32440	0.7307:0.1378:0.0:0.1315	.	77;77	Q8N4T0-2;Q8N4T0	.;CBPA6_HUMAN	P	77	ENSP00000297770:S77P;ENSP00000431112:S77P	ENSP00000297770:S77P	S	-	1	0	CPA6	68592800	0.641000	0.27251	0.992000	0.48379	0.998000	0.95712	0.577000	0.23758	1.087000	0.41251	0.533000	0.62120	TCA		0.478	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361	
EYA1	2138	hgsc.bcm.edu	37	8	72184127	72184127	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:72184127T>C	ENST00000340726.3	-	10	1471	c.832A>G	c.(832-834)Agc>Ggc	p.S278G	EYA1_ENST00000388740.3_Missense_Mutation_p.S245G|EYA1_ENST00000419131.1_Missense_Mutation_p.S273G|EYA1_ENST00000388741.2_Missense_Mutation_p.S244G|EYA1_ENST00000303824.7_Missense_Mutation_p.S272G|EYA1_ENST00000388743.2_Missense_Mutation_p.S277G|EYA1_ENST00000388742.4_Missense_Mutation_p.S278G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	278					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.S278G(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGGATTGTGCTGTACTCTGCA	0.433																																					p.S245G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A733G	8						.						256.0	241.0	246.0					8																	72184127		2203	4300	6503	72346681	SO:0001583	missense	2138	exon8			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.832A>G	8.37:g.72184127T>C	ENSP00000342626:p.Ser278Gly	Somatic		Capture	SOLID	Phase_I	72346681	NM_172060	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.297363	0.23650	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.55	3.21	0.36854	.	0.208186	0.64402	N	0.000020	T	0.62380	0.2423	N	0.12746	0.255	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.001	T	0.54662	-0.8260	10	0.32370	T	0.25	-4.3931	9.4097	0.38485	0.0:0.1438:0.0:0.8562	.	272;205;245;278;273	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	G	278;278;246;245;272;244;277;273	ENSP00000373394:S278G;ENSP00000342626:S278G;ENSP00000373392:S245G;ENSP00000303221:S272G;ENSP00000373393:S244G;ENSP00000373395:S277G;ENSP00000410176:S273G	ENSP00000303221:S272G	S	-	1	0	EYA1	72346681	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	2.643000	0.46604	0.953000	0.37825	0.459000	0.35465	AGC		0.433	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060	
TRPA1	8989	hgsc.bcm.edu	37	8	72963088	72963088	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:72963088C>A	ENST00000262209.4	-	15	2037	c.1830G>T	c.(1828-1830)aaG>aaT	p.K610N	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	610					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.K610N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GACTGAAAATCTTAAGACATT	0.318																																					p.K610N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1830T	8						.						85.0	90.0	88.0					8																	72963088		2202	4298	6500	73125642	SO:0001583	missense	8989	exon15			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1830G>T	8.37:g.72963088C>A	ENSP00000262209:p.Lys610Asn	Somatic		Capture	SOLID	Phase_I	73125642	NM_007332	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	2.552	-0.303798	0.05495	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.43688	0.94;1.04	4.96	-0.418	0.12344	.	1.078490	0.06941	N	0.812725	T	0.31513	0.0799	L	0.36672	1.1	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.28267	-1.0049	10	0.18276	T	0.48	-3.4154	10.5703	0.45196	0.0:0.4396:0.0:0.5604	.	610	O75762	TRPA1_HUMAN	N	462;610	ENSP00000428151:K462N;ENSP00000262209:K610N	ENSP00000262209:K610N	K	-	3	2	TRPA1	73125642	0.000000	0.05858	0.000000	0.03702	0.551000	0.35334	-0.083000	0.11286	-0.060000	0.13132	-0.355000	0.07637	AAG		0.318	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
TRPA1	8989	hgsc.bcm.edu	37	8	72966060	72966060	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:72966060G>A	ENST00000262209.4	-	13	1779	c.1572C>T	c.(1570-1572)ggC>ggT	p.G524G	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	524					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.G524G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GAGTGTACCCGCCCATGGACG	0.478																																					p.G524G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1572T	8						.						73.0	61.0	65.0					8																	72966060		2203	4300	6503	73128614	SO:0001819	synonymous_variant	8989	exon13			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1572C>T	8.37:g.72966060G>A		Somatic		Capture	SOLID	Phase_I	73128614	NM_007332	A6NIN6	Silent	SNP	ENST00000262209.4	37	CCDS34908.1																																																																																				0.478	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
RUNX1T1	862	hgsc.bcm.edu	37	8	92972532	92972532	+	Missense_Mutation	SNP	C	C	G	rs57930555		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:92972532C>G	ENST00000523629.1	-	12	2207	c.1753G>C	c.(1753-1755)Gca>Cca	p.A585P	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A548P|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A558P|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A548P|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A596P|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A548P|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A558P|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A585P	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	585					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A585P(1)|p.A548P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGAGTGGCTGCTGGTGGTGTG	0.617																																					p.A585P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1753C	8						.						75.0	52.0	60.0					8																	92972532		2203	4300	6503	93041708	SO:0001583	missense	862	exon13			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1753G>C	8.37:g.92972532C>G	ENSP00000428543:p.Ala585Pro	Somatic		Capture	SOLID	Phase_I	93041708	NM_001198626	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316591	0.60524	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.33216	1.42;1.43;1.42;1.43;1.43;1.43;1.42;1.43	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.981	D;D;D;D	0.76071	0.981;0.987;0.981;0.959	T	0.36237	-0.9756	10	0.48119	T	0.1	-13.8836	20.1802	0.98196	0.0:1.0:0.0:0.0	.	596;548;585;558	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	P	585;558;585;548;548;548;596;558	ENSP00000428543:A585P;ENSP00000379520:A558P;ENSP00000265814:A585P;ENSP00000353504:A548P;ENSP00000390137:A548P;ENSP00000428742:A548P;ENSP00000402257:A596P;ENSP00000430728:A558P	ENSP00000265814:A585P	A	-	1	0	RUNX1T1	93041708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.548000	0.67255	2.777000	0.95525	0.655000	0.94253	GCA		0.617	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
GEM	2669	hgsc.bcm.edu	37	8	95272604	95272604	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:95272604C>A	ENST00000297596.2	-	2	392	c.128G>T	c.(127-129)cGc>cTc	p.R43L	GEM_ENST00000396194.2_Missense_Mutation_p.R43L	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	43			R -> G (in dbSNP:rs2170363).		cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.R43L(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATGGCGGTTGCGGTGGCTGTA	0.607																																					p.R43L	GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G128T	8						.						76.0	74.0	75.0					8																	95272604		2203	4300	6503	95341780	SO:0001583	missense	2669	exon2				CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.128G>T	8.37:g.95272604C>A	ENSP00000297596:p.Arg43Leu	Somatic		Capture	SOLID	Phase_I	95341780	NM_181702	B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	C	2.458	-0.324791	0.05350	.	.	ENSG00000164949	ENST00000396194;ENST00000297596;ENST00000523433	T;T;T	0.63580	-0.05;-0.05;1.69	5.48	-1.32	0.09201	.	0.771703	0.12758	N	0.441589	T	0.40645	0.1125	L	0.28274	0.84	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.24584	-1.0156	10	0.12430	T	0.62	.	7.595	0.28044	0.0:0.3671:0.1118:0.5211	.	43	P55040	GEM_HUMAN	L	43	ENSP00000379497:R43L;ENSP00000297596:R43L;ENSP00000428258:R43L	ENSP00000297596:R43L	R	-	2	0	GEM	95341780	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	-0.116000	0.10724	-0.653000	0.05401	-0.982000	0.02568	CGC		0.607	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702	
TP53INP1	94241	hgsc.bcm.edu	37	8	95952411	95952411	+	Silent	SNP	T	T	C	rs548441545|rs563445319	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:95952411T>C	ENST00000342697.4	-	3	557	c.150A>G	c.(148-150)gaA>gaG	p.E50E	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Silent_p.E50E|TP53INP1_ENST00000448464.2_Silent_p.E50E	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TGTCCTCCTCTTCTTCTTCTT	0.463													T|||	1	0.000199681	0.0	0.0014	5008	,	,		21718	0.0		0.0	False		,,,				2504	0.0				p.E50E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A150G	8						.						107.0	117.0	114.0					8																	95952411		2203	4300	6503	96021587	SO:0001819	synonymous_variant	94241	exon3			AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.150A>G	8.37:g.95952411T>C		Somatic		Capture	SOLID	Phase_I	96021587	NM_001135733	B2RCE5|Q969R9	Silent	SNP	ENST00000342697.4	37	CCDS6265.1																																																																																				0.463	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1		
PTDSS1	9791	hgsc.bcm.edu	37	8	97307339	97307339	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:97307339A>C	ENST00000517309.1	+	5	781	c.455A>C	c.(454-456)aAc>aCc	p.N152T	PTDSS1_ENST00000455950.2_Missense_Mutation_p.N6T|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_5'Flank	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	152					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.N152T(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TATGCTGTGAACTGCCATGTG	0.393																																					p.N152T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A455C	8						.						108.0	102.0	104.0					8																	97307339		2203	4300	6503	97376515	SO:0001583	missense	9791	exon5			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.455A>C	8.37:g.97307339A>C	ENSP00000430548:p.Asn152Thr	Somatic		Capture	SOLID	Phase_I	97376515	NM_014754	E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631053	0.46944	.	.	ENSG00000156471	ENST00000517309;ENST00000455950	T;T	0.54675	0.6;0.56	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.86028	2.79	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.78234	-0.2283	10	0.62326	D	0.03	-27.7746	12.9925	0.58627	1.0:0.0:0.0:0.0	.	152	P48651	PTSS1_HUMAN	T	152;6	ENSP00000430548:N152T;ENSP00000401248:N6T	ENSP00000401248:N6T	N	+	2	0	PTDSS1	97376515	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	1.878000	0.54408	0.454000	0.30748	AAC		0.393	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2		
ATAD2	29028	hgsc.bcm.edu	37	8	124384893	124384893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:124384893delT	ENST00000287394.5	-	3	461	c.354delA	c.(352-354)aaafs	p.K118fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	118					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E119fs*8(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTGCTCTTCTTTTTTTTTAT	0.269																																					p.K118fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.354delA	8						.						144.0	150.0	148.0					8																	124384893		2201	4297	6498	124454074	SO:0001589	frameshift_variant	29028	exon3			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.354delA	8.37:g.124384893delT	ENSP00000287394:p.Lys118fs	Somatic		Capture	SOLID	Phase_I	124454074	NM_014109	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	CCDS6343.1																																																																																				0.269	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
TRAPPC9	83696	hgsc.bcm.edu	37	8	141231574	141231574	+	Missense_Mutation	SNP	T	T	C	rs587780482		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr8:141231574T>C	ENST00000438773.2	-	17	2673	c.2540A>G	c.(2539-2541)gAc>gGc	p.D847G	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.D838G|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.D945G	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	847					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.D945G(1)		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						GTGGCTGTAGTCGCCTGCTTT	0.582																																					p.D847G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2540G	8						.						154.0	124.0	134.0					8																	141231574		2203	4300	6503	141300756	SO:0001583	missense	83696	exon17			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.2540A>G	8.37:g.141231574T>C	ENSP00000405060:p.Asp847Gly	Somatic		Capture	SOLID	Phase_I	141300756	NM_001160372	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	T	9.475	1.096571	0.20552	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.5	5.5	0.81552	.	0.145055	0.64402	D	0.000009	T	0.28566	0.0707	N	0.02539	-0.55	0.40699	D	0.982469	P;P;B;P	0.47191	0.891;0.645;0.163;0.675	P;B;B;B	0.46419	0.516;0.332;0.093;0.367	T	0.27468	-1.0073	9	0.22109	T	0.4	.	13.8553	0.63522	0.0:0.0:0.0:1.0	.	945;847;838;945	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.;TPPC9_HUMAN;.;.	G	945;838;847	.	ENSP00000373978:D838G	D	-	2	0	TRAPPC9	141300756	1.000000	0.71417	0.283000	0.24790	0.222000	0.24845	5.312000	0.65792	2.209000	0.71365	0.533000	0.62120	GAC		0.582	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	
PEX14	5195	hgsc.bcm.edu	37	1	10678450	10678450	+	Silent	SNP	A	A	C	rs148479162	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:10678450A>C	ENST00000356607.4	+	5	440	c.360A>C	c.(358-360)gcA>gcC	p.A120A	RN7SL614P_ENST00000461850.2_RNA|PEX14_ENST00000538836.1_Silent_p.A56A	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	120					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.A120A(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGCATTGCATTTGGCTTTC	0.612																																					p.A120A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A360C	1						.						87.0	75.0	79.0					1																	10678450		2203	4300	6503	10601037	SO:0001819	synonymous_variant	5195	exon5			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.360A>C	1.37:g.10678450A>C		Somatic		Capture	SOLID	Phase_I	10601037	NM_004565	B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	ENST00000356607.4	37	CCDS30582.1																																																																																				0.612	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1		
PEX14	5195	hgsc.bcm.edu	37	1	10683079	10683079	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:10683079T>C	ENST00000356607.4	+	6	468	c.388T>C	c.(388-390)Tac>Cac	p.Y130H	PEX14_ENST00000538836.1_Missense_Mutation_p.Y66H	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	130					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.Y130H(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CTTGCAGAAATACCTGCTCCC	0.592																																					p.Y130H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T388C	1						.						62.0	59.0	60.0					1																	10683079		2203	4300	6503	10605666	SO:0001583	missense	5195	exon6			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.388T>C	1.37:g.10683079T>C	ENSP00000349016:p.Tyr130His	Somatic		Capture	SOLID	Phase_I	10605666	NM_004565	B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.064486	0.76187	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.54479	0.57;1.45	5.27	5.27	0.74061	Peroxisome membrane anchor protein Pex14p, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.997;0.996	T	0.82868	-0.0244	10	0.72032	D	0.01	.	15.2015	0.73142	0.0:0.0:0.0:1.0	.	87;66;130	O75381-2;B7Z4Z4;O75381	.;.;PEX14_HUMAN	H	130;66	ENSP00000349016:Y130H;ENSP00000444877:Y66H	ENSP00000349016:Y130H	Y	+	1	0	PEX14	10605666	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	5.926000	0.70070	1.981000	0.57761	0.533000	0.62120	TAC		0.592	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1		
COL11A1	1301	hgsc.bcm.edu	37	1	103483425	103483425	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:103483425G>T	ENST00000370096.3	-	11	1676	c.1364C>A	c.(1363-1365)cCt>cAt	p.P455H	COL11A1_ENST00000358392.2_Missense_Mutation_p.P467H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P416H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P339H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	455	Collagen-like 1.|Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P467H(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TAGACCTGGAGGACCCATAAT	0.418																																					p.P455H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1364A	1						.						99.0	102.0	101.0					1																	103483425		2203	4300	6503	103256013	SO:0001583	missense	1301	exon11			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1364C>A	1.37:g.103483425G>T	ENSP00000359114:p.Pro455His	Somatic		Capture	SOLID	Phase_I	103256013	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532270	0.64972	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-2.49;-2.49	5.38	5.38	0.77491	.	0.110223	0.64402	D	0.000005	D	0.97176	0.9077	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.997;0.998	D	0.97321	0.9944	10	0.66056	D	0.02	.	19.111	0.93317	0.0:0.0:1.0:0.0	.	339;416;467;455	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	H	455;467;416;339;467	ENSP00000359114:P455H;ENSP00000351163:P467H;ENSP00000302551:P416H;ENSP00000426533:P339H;ENSP00000408640:P467H	ENSP00000302551:P416H	P	-	2	0	COL11A1	103256013	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.281000	0.89905	2.673000	0.90976	0.650000	0.86243	CCT		0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
CTTNBP2NL	55917	hgsc.bcm.edu	37	1	112991750	112991750	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:112991750C>T	ENST00000271277.6	+	4	511	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	96					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)	p.R96C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGCAGGAGCGCATGCTGTC	0.458																																					p.R96C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C286T	1						.						62.0	60.0	61.0					1																	112991750		2203	4300	6503	112793273	SO:0001583	missense	55917	exon4			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.286C>T	1.37:g.112991750C>T	ENSP00000271277:p.Arg96Cys	Somatic		Capture	SOLID	Phase_I	112793273	NM_018704	B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	CCDS845.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292167	0.80914	.	.	ENSG00000143079	ENST00000271277;ENST00000441739	T;T	0.56611	0.45;0.45	5.65	5.65	0.86999	Cortactin-binding protein-2, N-terminal (1);	0.048809	0.85682	D	0.000000	T	0.61022	0.2314	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	T	0.64723	-0.6340	10	0.87932	D	0	-14.4969	14.2036	0.65721	0.1871:0.8129:0.0:0.0	.	96	Q9P2B4	CT2NL_HUMAN	C	96	ENSP00000271277:R96C;ENSP00000390976:R96C	ENSP00000271277:R96C	R	+	1	0	CTTNBP2NL	112793273	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.081000	0.64444	2.677000	0.91161	0.561000	0.74099	CGC		0.458	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704	
HIPK1	204851	hgsc.bcm.edu	37	1	114511268	114511268	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:114511268T>C	ENST00000369558.1	+	13	3001	c.2769T>C	c.(2767-2769)agT>agC	p.S923S	HIPK1_ENST00000369554.2_Silent_p.S878S|HIPK1_ENST00000369555.2_Silent_p.S878S|HIPK1_ENST00000369559.4_Silent_p.S923S|HIPK1_ENST00000406344.1_Silent_p.S529S|HIPK1_ENST00000369561.4_Silent_p.S889S|HIPK1_ENST00000426820.2_Silent_p.S923S|HIPK1_ENST00000340480.4_Silent_p.S549S|HIPK1_ENST00000369553.1_Silent_p.S529S			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	923	Interaction with TP53.|Required for localization to nuclear speckles. {ECO:0000250}.|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S923S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAGCCCAGTAGGTAAGATA	0.502																																					p.S549S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1647C	1						.						66.0	58.0	60.0					1																	114511268		2203	4300	6503	114312791	SO:0001819	synonymous_variant	204851	exon12			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2769T>C	1.37:g.114511268T>C		Somatic		Capture	SOLID	Phase_I	114312791	NM_198269	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.404349	0.25378	.	.	ENSG00000163349	ENST00000361587	.	.	.	5.66	0.499	0.16914	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.285	0.10850	0.2976:0.4216:0.0:0.2808	.	.	.	.	Q	204	.	.	X	+	1	0	HIPK1	114312791	0.005000	0.15991	0.443000	0.26883	0.839000	0.47603	0.040000	0.13905	0.084000	0.17077	0.459000	0.35465	TAG		0.502	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268	
MIIP	60672	hgsc.bcm.edu	37	1	12091340	12091340	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:12091340G>T	ENST00000235332.4	+	9	1129	c.960G>T	c.(958-960)tgG>tgT	p.W320C	MIIP_ENST00000436478.2_Missense_Mutation_p.G288V|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	320								p.W320C(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TGCTGGGCTGGGACATTTTTC	0.602																																					p.W320C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G960T	1						.						40.0	38.0	39.0					1																	12091340		2203	4300	6503	12013927	SO:0001583	missense	60672	exon9			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.960G>T	1.37:g.12091340G>T	ENSP00000235332:p.Trp320Cys	Somatic		Capture	SOLID	Phase_I	12013927	NM_021933	C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	ENST00000235332.4	37	CCDS143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.37|15.37	2.812326|2.812326	0.50527|0.50527	.|.	.|.	ENSG00000116691|ENSG00000116691	ENST00000436478|ENST00000235332	T|T	0.19394|0.23147	2.15|1.92	4.56|4.56	4.56|4.56	0.56223|0.56223	.|.	.|0.168342	.|0.41712	.|D	.|0.000839	T|T	0.51719|0.51719	0.1691|0.1691	M|M	0.81942|0.81942	2.565|2.565	0.46416|0.46416	D|D	0.999033|0.999033	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.57100|0.57100	-0.7869|-0.7869	7|10	0.72032|0.87932	D|D	0.01|0	-24.0081|-24.0081	12.7051|12.7051	0.57056|0.57056	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|320	.|Q5JXC2	.|MIIP_HUMAN	V|C	288|320	ENSP00000392417:G288V|ENSP00000235332:W320C	ENSP00000392417:G288V|ENSP00000235332:W320C	G|W	+|+	2|3	0|0	MIIP|MIIP	12013927|12013927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.834000|0.834000	0.47266|0.47266	3.214000|3.214000	0.51161|0.51161	2.375000|2.375000	0.81037|0.81037	0.491000|0.491000	0.48974|0.48974	GGG|TGG		0.602	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933	
TSPAN2	10100	hgsc.bcm.edu	37	1	115604774	115604774	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:115604774C>T	ENST00000369516.2	-	3	283	c.252G>A	c.(250-252)tcG>tcA	p.S84S	TSPAN2_ENST00000369515.2_Silent_p.S84S|TSPAN2_ENST00000369514.2_Silent_p.S84S	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	84					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)		p.S84S(1)		central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GCACACATTGCGACTCCCGCA	0.637																																					p.S84S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G252A	1						.						59.0	49.0	52.0					1																	115604774		2203	4296	6499	115406297	SO:0001819	synonymous_variant	10100	exon3			AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.252G>A	1.37:g.115604774C>T		Somatic		Capture	SOLID	Phase_I	115406297	NM_005725	D6PTH4|Q5TET2|Q8WU05	Silent	SNP	ENST00000369516.2	37	CCDS881.1																																																																																				0.637	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725	
ACP6	51205	hgsc.bcm.edu	37	1	147122002	147122002	+	Silent	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:147122002G>T	ENST00000369238.6	-	8	1368	c.921C>A	c.(919-921)atC>atA	p.I307I	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	307					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.I307I(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TGCTCTCTAGGATGTGGAGGA	0.542																																					p.I307I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C921A	1						.						119.0	103.0	109.0					1																	147122002		2203	4300	6503	145588626	SO:0001819	synonymous_variant	51205	exon8			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.921C>A	1.37:g.147122002G>T		Somatic		Capture	SOLID	Phase_I	145588626	NM_016361	Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Silent	SNP	ENST00000369238.6	37	CCDS928.1																																																																																				0.542	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361	
PI4KB	5298	hgsc.bcm.edu	37	1	151274427	151274427	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:151274427A>G	ENST00000368873.1	-	8	1810	c.1642T>C	c.(1642-1644)Tcc>Ccc	p.S548P	RN7SL444P_ENST00000578948.1_RNA|PI4KB_ENST00000529142.1_Missense_Mutation_p.S216P|PI4KB_ENST00000271657.5_Missense_Mutation_p.S560P|PI4KB_ENST00000368874.4_Missense_Mutation_p.S533P|PI4KB_ENST00000368875.2_Missense_Mutation_p.S560P|PI4KB_ENST00000368872.1_Missense_Mutation_p.S533P			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	548					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)	p.S560P(1)		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)			CCGTAGGGGGAGCCCTCTCTG	0.532																																					p.S216P	Colon(154;765 1838 9854 28443 37492)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T646C	1						.						46.0	51.0	49.0					1																	151274427		2203	4300	6503	149541051	SO:0001583	missense	5298	exon6			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	ENST00000368873.1:c.1642T>C	1.37:g.151274427A>G	ENSP00000357867:p.Ser548Pro	Somatic		Capture	SOLID	Phase_I	149541051	NM_001198775	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37		.	.	.	.	.	.	.	.	.	.	A	22.7	4.327867	0.81690	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872	T;T;T;T;T;T	0.80033	-1.31;-1.32;-1.32;-1.33;-1.03;-1.31	4.96	3.84	0.44239	Protein kinase-like domain (1);	0.105241	0.64402	D	0.000002	D	0.86785	0.6016	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	D;D;D	0.91635	0.939;0.999;0.999	D	0.88001	0.2756	10	0.87932	D	0	-14.4584	9.4663	0.38816	0.9153:0.0:0.0847:0.0	.	548;533;216	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	P	533;560;560;548;216;533	ENSP00000357868:S533P;ENSP00000357869:S560P;ENSP00000271657:S560P;ENSP00000357867:S548P;ENSP00000433149:S216P;ENSP00000357866:S533P	ENSP00000271657:S560P	S	-	1	0	PI4KB	149541051	1.000000	0.71417	0.984000	0.44739	0.964000	0.63967	8.723000	0.91458	0.922000	0.37019	0.379000	0.24179	TCC		0.532	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651	
RFX5	5993	hgsc.bcm.edu	37	1	151315328	151315328	+	Silent	SNP	T	T	C	rs372560621		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:151315328T>C	ENST00000290524.4	-	11	1363	c.1185A>G	c.(1183-1185)ggA>ggG	p.G395G	RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000368870.2_Silent_p.G395G|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452513.2_Silent_p.G355G|RFX5_ENST00000452671.2_Silent_p.G395G	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	395					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G395G(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	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)			CAGGCCCAGGTCCAGGTCCAG	0.602													T|||	1	0.000199681	0.0	0.0	5008	,	,		17351	0.0		0.0	False		,,,				2504	0.001				p.G395G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1185G	1						.	T	,	1,4405	2.1+/-5.4	0,1,2202	106.0	115.0	112.0		1185,1185	-5.5	0.9	1		112	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	RFX5	NM_000449.3,NM_001025603.1	,	0,4,6499	CC,CT,TT		0.0349,0.0227,0.0308	,	395/617,395/617	151315328	4,13002	2203	4300	6503	149581952	SO:0001819	synonymous_variant	5993	exon11				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1185A>G	1.37:g.151315328T>C		Somatic		Capture	SOLID	Phase_I	149581952	NM_001025603	B7Z848|D3DV19|E9PFU4|Q5VWC3	Silent	SNP	ENST00000290524.4	37	CCDS994.1																																																																																				0.602	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449	
CELF3	11189	hgsc.bcm.edu	37	1	151680341	151680341	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:151680341T>G	ENST00000290583.4	-	6	1350	c.557A>C	c.(556-558)cAg>cCg	p.Q186P	RIIAD1_ENST00000326413.3_5'Flank|CELF3_ENST00000290585.4_Missense_Mutation_p.Q186P|RP11-98D18.1_ENST00000457548.1_RNA|AL589765.1_ENST00000442233.2_5'Flank|CELF3_ENST00000392706.3_Missense_Mutation_p.Q3P|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	186					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GGTGGCCACCTGCTGCATGCG	0.657																																					p.Q186P												.	.	0			c.A557C	1						.						59.0	52.0	54.0					1																	151680341		2203	4300	6503	149946965	SO:0001583	missense	11189	exon6			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.557A>C	1.37:g.151680341T>G	ENSP00000290583:p.Gln186Pro	Somatic		Capture	SOLID	Phase_I	149946965	NM_007185	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.963065	0.74016	.	.	ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000392706;ENST00000368833	T;T;T	0.27104	2.09;2.03;1.69	3.75	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	M	0.86651	2.83	0.80722	D	1	P;D;D;D;D	0.89917	0.633;1.0;0.997;0.997;0.998	B;D;D;D;D	0.79784	0.313;0.991;0.947;0.985;0.993	T	0.54925	-0.8220	10	0.87932	D	0	-9.9857	11.7375	0.51773	0.0:0.0:0.0:1.0	.	186;186;185;186;185	Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3	.;.;.;CELF3_HUMAN;.	P	186;186;3;185	ENSP00000290585:Q186P;ENSP00000290583:Q186P;ENSP00000376470:Q3P	ENSP00000290583:Q186P	Q	-	2	0	CELF3	149946965	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.797000	0.85911	1.707000	0.51288	0.533000	0.62120	CAG		0.657	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185	
S100A9	6280	hgsc.bcm.edu	37	1	153333163	153333163	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:153333163A>G	ENST00000368738.3	+	3	237	c.194A>G	c.(193-195)gAc>gGc	p.D65G		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	65	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	antioxidant activity (GO:0016209)|arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|signal transducer activity (GO:0004871)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)	p.D65G(1)		breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCATGGAGGACCTGGACACA	0.557																																					p.D65G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A194G	1						.						98.0	81.0	87.0					1																	153333163		2203	4300	6503	151599787	SO:0001583	missense	6280	exon3			BC047681	CCDS1036.1	1q21	2013-01-10	2006-09-11		ENSG00000163220	ENSG00000163220		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10499	protein-coding gene	gene with protein product		123886	"""S100 calcium-binding protein A9 (calgranulin B)"", ""S100 calcium binding protein A9 (calgranulin B)"""	CAGB, CFAG			Standard	NM_002965		Approved	P14, MIF, NIF, LIAG, MRP14, MAC387, 60B8AG, CGLB	uc001fbq.3	P06702	OTTHUMG00000013125	ENST00000368738.3:c.194A>G	1.37:g.153333163A>G	ENSP00000357727:p.Asp65Gly	Somatic		Capture	SOLID	Phase_I	151599787	NM_002965	D3DV36|Q6FGA1|Q9NYM0|Q9UCJ1	Missense_Mutation	SNP	ENST00000368738.3	37	CCDS1036.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.291693	0.40594	.	.	ENSG00000163220	ENST00000368738	T	0.06849	3.25	5.17	5.17	0.71159	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.057912	0.64402	D	0.000003	T	0.06826	0.0174	M	0.73430	2.235	0.41952	D	0.990667	B	0.31274	0.317	B	0.33196	0.159	T	0.02471	-1.1154	10	0.54805	T	0.06	.	11.3269	0.49454	1.0:0.0:0.0:0.0	.	65	P06702	S10A9_HUMAN	G	65	ENSP00000357727:D65G	ENSP00000357727:D65G	D	+	2	0	S100A9	151599787	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	5.858000	0.69532	2.165000	0.68154	0.460000	0.39030	GAC		0.557	S100A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036793.1	NM_002965	
UBAP2L	9898	hgsc.bcm.edu	37	1	154233575	154233575	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:154233575C>A	ENST00000361546.2	+	22	2828	c.2786C>A	c.(2785-2787)gCt>gAt	p.A929D	UBAP2L_ENST00000271877.7_Missense_Mutation_p.A940D|UBAP2L_ENST00000343815.6_Missense_Mutation_p.A929D|SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000428931.1_Missense_Mutation_p.A929D			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	929					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.A425D(1)|p.A929D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TATGGGCCTGCTGTGTTCCCT	0.547																																					p.A929D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2786A	1						.						28.0	28.0	28.0					1																	154233575		2203	4300	6503	152500199	SO:0001583	missense	9898	exon23			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2786C>A	1.37:g.154233575C>A	ENSP00000355343:p.Ala929Asp	Somatic		Capture	SOLID	Phase_I	152500199	NM_014847	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	CCDS1063.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.884770|4.884770	0.91814|0.91814	.|.	.|.	ENSG00000143569|ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546|ENST00000433615;ENST00000428595	T;T;T;T|.	0.39229|.	1.09;1.09;1.09;1.09|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.58666|.	0.2138|.	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.999;0.998;0.999;0.997|.	D;D;D;D;D;D;D|.	0.85130|.	0.98;0.997;0.996;0.996;0.987;0.991;0.946|.	T|.	0.54437|.	-0.8294|.	10|.	0.87932|.	D|.	0|.	-2.2888|-2.2888	17.9549|17.9549	0.89065|0.89065	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	843;940;922;929;425;929;929|.	B4DZJ6;F8W726;Q14157-4;Q14157-1;C9JD99;Q14157-3;Q14157|.	.;.;.;.;.;.;UBP2L_HUMAN|.	D|X	929;929;425;425;940;929|259;207	ENSP00000345308:A929D;ENSP00000389445:A929D;ENSP00000271877:A940D;ENSP00000355343:A929D|.	ENSP00000271877:A940D|.	A|C	+|+	2|3	0|2	UBAP2L|UBAP2L	152500199|152500199	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.320000|7.320000	0.79064|0.79064	2.715000|2.715000	0.92844|0.92844	0.555000|0.555000	0.69702|0.69702	GCT|TGC		0.547	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847	
FLAD1	80308	hgsc.bcm.edu	37	1	154962050	154962050	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:154962050A>G	ENST00000292180.3	+	3	1454	c.1132A>G	c.(1132-1134)Aaa>Gaa	p.K378E	FLAD1_ENST00000368433.1_Missense_Mutation_p.K378E|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000315144.10_Missense_Mutation_p.K281E|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368432.1_Missense_Mutation_p.K281E	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	378					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.K378E(3)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	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)			TTCTTTGGGGAAAAAGGTGGC	0.567																																					p.K378E												.	.	3	Substitution - Missense(3)	large_intestine(1)|lung(1)|endometrium(1)	c.A1132G	1						.						92.0	91.0	92.0					1																	154962050		2203	4300	6503	153228674	SO:0001583	missense	80308	exon3				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1132A>G	1.37:g.154962050A>G	ENSP00000292180:p.Lys378Glu	Somatic		Capture	SOLID	Phase_I	153228674	NM_025207	Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	A	1.104	-0.660206	0.03454	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000292180	.	.	.	5.31	-5.81	0.02340	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.847275	0.10907	N	0.620948	T	0.03695	0.0105	N	0.03948	-0.315	0.20196	N	0.999928	B	0.02656	0.0	B	0.04013	0.001	T	0.43261	-0.9402	9	0.12766	T	0.61	4.4652	10.7693	0.46312	0.4491:0.1689:0.382:0.0	.	378	Q8NFF5	FAD1_HUMAN	E	378;281;281;378	.	ENSP00000292180:K378E	K	+	1	0	FLAD1	153228674	0.001000	0.12720	0.002000	0.10522	0.948000	0.59901	0.337000	0.19841	-1.281000	0.02399	-1.937000	0.00501	AAA		0.567	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207	
TRIM46	80128	hgsc.bcm.edu	37	1	155145237	155145237	+	5'Flank	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:155145237C>A	ENST00000334634.4	+	0	0				KRTCAP2_ENST00000295682.4_Missense_Mutation_p.G72C|KRTCAP2_ENST00000490672.1_5'UTR|TRIM46_ENST00000392451.2_5'Flank|TRIM46_ENST00000368382.1_5'Flank|TRIM46_ENST00000368383.3_5'Flank|TRIM46_ENST00000545012.1_5'Flank|RP11-201K10.3_ENST00000473363.2_Missense_Mutation_p.G113V|TRIM46_ENST00000543729.1_5'Flank|TRIM46_ENST00000368385.4_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G72C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACGAAGAGACCCGAACCAAGC	0.637																																					p.G72C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G214T	1						.						71.0	70.0	71.0					1																	155145237		2203	4300	6503	153411861	SO:0001631	upstream_gene_variant	200185	exon2				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155145237C>A	Exception_encountered	Somatic		Capture	SOLID	Phase_I	153411861	NM_173852	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.716739	0.48622	.	.	ENSG00000163463	ENST00000295682	T	0.41758	0.99	5.07	5.07	0.68467	.	0.230437	0.36034	N	0.002824	T	0.35128	0.0921	N	0.22421	0.69	0.39557	D	0.969077	D;D	0.59767	0.986;0.986	P;P	0.59948	0.866;0.797	T	0.07121	-1.0789	10	0.38643	T	0.18	-14.2287	14.1416	0.65322	0.0:1.0:0.0:0.0	.	72;72	B3KNA5;Q8N6L1	.;KTAP2_HUMAN	C	72	ENSP00000295682:G72C	ENSP00000295682:G72C	G	-	1	0	KRTCAP2	153411861	0.995000	0.38212	1.000000	0.80357	0.077000	0.17291	3.221000	0.51215	2.793000	0.96121	0.591000	0.81541	GGT		0.637	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058	
GON4L	54856	hgsc.bcm.edu	37	1	155735010	155735010	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:155735010C>A	ENST00000368331.1	-	21	4302	c.4254G>T	c.(4252-4254)atG>atT	p.M1418I	GON4L_ENST00000361040.5_Missense_Mutation_p.M1418I|GON4L_ENST00000437809.1_Missense_Mutation_p.M1418I|GON4L_ENST00000271883.5_Missense_Mutation_p.M1418I|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1418			M -> V (in dbSNP:rs2297775). {ECO:0000269|PubMed:11230166}.		regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.M1418I(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTTCAGGATCCATTGAGGACA	0.502																																					p.M1418I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4254T	1						.						93.0	91.0	92.0					1																	155735010		2203	4300	6503	154001634	SO:0001583	missense	54856	exon21			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4254G>T	1.37:g.155735010C>A	ENSP00000357315:p.Met1418Ile	Somatic		Capture	SOLID	Phase_I	154001634	NM_032292	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	C	12.64	1.997574	0.35226	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.11277	3.01;3.01;3.01;2.79	5.04	-10.1	0.00402	.	1.379720	0.04358	N	0.357025	T	0.01454	0.0047	L	0.29908	0.895	0.09310	N	1	B;B;B	0.14438	0.005;0.006;0.01	B;B;B	0.12837	0.005;0.004;0.008	T	0.35649	-0.9780	10	0.37606	T	0.19	.	1.0583	0.01595	0.238:0.1677:0.321:0.2733	.	1418;1418;1418	Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	I	1418	ENSP00000396117:M1418I;ENSP00000357315:M1418I;ENSP00000271883:M1418I;ENSP00000354322:M1418I	ENSP00000271883:M1418I	M	-	3	0	GON4L	154001634	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-1.950000	0.01530	-1.977000	0.00994	-0.145000	0.13849	ATG		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
ARHGEF2	9181	hgsc.bcm.edu	37	1	155936227	155936227	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:155936227G>A	ENST00000361247.4	-	4	419	c.320C>T	c.(319-321)tCc>tTc	p.S107F	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.S80F|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.S108F|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.S107F|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.S80F|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.S152F	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	107					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S80F(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAGAGAAACGGACTGCAAGGC	0.567																																					p.S107F	Melanoma(178;35 2768 6610 28839)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C320T	1						.						143.0	121.0	129.0					1																	155936227		2203	4300	6503	154202851	SO:0001583	missense	9181	exon4			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.320C>T	1.37:g.155936227G>A	ENSP00000354837:p.Ser107Phe	Somatic		Capture	SOLID	Phase_I	154202851	NM_001162383	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344715	0.61073	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.67698	-0.27;-0.16;-0.16;-0.27;-0.28	5.21	5.21	0.72293	.	0.000000	0.45606	D	0.000360	T	0.57080	0.2029	N	0.19112	0.55	0.34741	D	0.730779	B;D;D;D	0.61697	0.255;0.963;0.99;0.988	B;P;P;P	0.60789	0.048;0.682;0.804;0.879	T	0.66284	-0.5962	10	0.87932	D	0	-16.583	11.2101	0.48793	0.0:0.0:0.8172:0.1828	.	152;152;107;107	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	F	80;107;108;80;152;80;107	ENSP00000315325:S80F;ENSP00000354837:S107F;ENSP00000357298:S108F;ENSP00000357299:S80F;ENSP00000314787:S107F	ENSP00000314787:S107F	S	-	2	0	ARHGEF2	154202851	0.998000	0.40836	0.990000	0.47175	0.503000	0.33858	2.803000	0.47924	2.712000	0.92718	0.561000	0.74099	TCC		0.567	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723	
SLC25A44	9673	hgsc.bcm.edu	37	1	156177743	156177743	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:156177743T>C	ENST00000359511.4	+	3	864	c.692T>C	c.(691-693)cTg>cCg	p.L231P	SLC25A44_ENST00000423538.2_Missense_Mutation_p.L208P|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	231					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.L231P(1)		breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TCGGGGCCCCTGGCTGCAGCC	0.557																																					p.L231P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T692C	1						.						99.0	83.0	88.0					1																	156177743		2203	4300	6503	154444367	SO:0001583	missense	9673	exon3			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.692T>C	1.37:g.156177743T>C	ENSP00000352497:p.Leu231Pro	Somatic		Capture	SOLID	Phase_I	154444367	NM_014655	O75034	Missense_Mutation	SNP	ENST00000359511.4	37	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.197586	0.58126	.	.	ENSG00000160785	ENST00000359511;ENST00000423538	T;T	0.81163	-1.46;-1.46	5.17	4.05	0.47172	Mitochondrial carrier domain (2);	0.376195	0.24786	N	0.035603	D	0.87815	0.6272	M	0.91406	3.205	0.80722	D	1	D;D;D	0.64830	0.987;0.994;0.987	P;D;D	0.72075	0.838;0.976;0.956	D	0.88881	0.3339	10	0.87932	D	0	-1.1365	8.7951	0.34874	0.0:0.0879:0.0:0.9121	.	208;208;231	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	P	231;208	ENSP00000352497:L231P;ENSP00000407560:L208P	ENSP00000352497:L231P	L	+	2	0	SLC25A44	154444367	1.000000	0.71417	0.989000	0.46669	0.416000	0.31233	7.645000	0.83430	1.000000	0.39049	0.519000	0.50382	CTG		0.557	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655	
OR6Y1	391112	hgsc.bcm.edu	37	1	158517443	158517443	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:158517443T>C	ENST00000302617.3	-	1	452	c.453A>G	c.(451-453)ggA>ggG	p.G151G		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G151G(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ACCAGCATCCTCCAGCCAGTG	0.468																																					p.G151G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A453G	1						.						59.0	52.0	54.0					1																	158517443		2203	4300	6503	156784067	SO:0001819	synonymous_variant	391112	exon1			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.453A>G	1.37:g.158517443T>C		Somatic		Capture	SOLID	Phase_I	156784067	NM_001005189	Q6IFS0	Silent	SNP	ENST00000302617.3	37	CCDS30899.1																																																																																				0.468	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189	
FCER1A	2205	hgsc.bcm.edu	37	1	159277577	159277577	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:159277577T>C	ENST00000368115.1	+	6	728	c.629T>C	c.(628-630)tTg>tCg	p.L210S	FCER1A_ENST00000368114.1_Missense_Mutation_p.L177S	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	210					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.L210S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TTTATCCCATTGTTGGTGGTG	0.413																																					p.L210S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T629C	1						.						126.0	113.0	118.0					1																	159277577		2203	4300	6503	157544201	SO:0001583	missense	2205	exon6			BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.629T>C	1.37:g.159277577T>C	ENSP00000357097:p.Leu210Ser	Somatic		Capture	SOLID	Phase_I	157544201	NM_002001		Missense_Mutation	SNP	ENST00000368115.1	37	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.461061	0.26248	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.02525	4.66;4.26	5.37	0.342	0.15996	.	3.193250	0.01064	N	0.004687	T	0.01489	0.0048	L	0.56769	1.78	0.09310	N	1	P	0.38535	0.635	B	0.35073	0.195	T	0.46275	-0.9203	10	0.51188	T	0.08	.	7.8805	0.29618	0.0:0.3371:0.0:0.6629	.	210	P12319	FCERA_HUMAN	S	210;177	ENSP00000357097:L210S;ENSP00000357096:L177S	ENSP00000357096:L177S	L	+	2	0	FCER1A	157544201	0.009000	0.17119	0.006000	0.13384	0.044000	0.14063	0.712000	0.25779	-0.099000	0.12263	-0.297000	0.09499	TTG		0.413	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001	
PIGM	93183	hgsc.bcm.edu	37	1	160000709	160000709	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:160000709T>C	ENST00000368090.2	-	1	1074	c.821A>G	c.(820-822)tAc>tGc	p.Y274C		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	274					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.Y274C(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGTAGAAGTACGGAGAAAA	0.453																																					p.Y274C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A821G	1						.						133.0	135.0	134.0					1																	160000709		2203	4300	6503	158267333	SO:0001583	missense	93183	exon1			AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.821A>G	1.37:g.160000709T>C	ENSP00000357069:p.Tyr274Cys	Somatic		Capture	SOLID	Phase_I	158267333	NM_145167		Missense_Mutation	SNP	ENST00000368090.2	37	CCDS1192.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495031	0.64186	.	.	ENSG00000143315	ENST00000368090	T	0.51574	0.7	4.96	4.96	0.65561	.	0.245247	0.34932	N	0.003565	T	0.67268	0.2875	M	0.90425	3.115	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.74902	-0.3506	9	.	.	.	-23.6889	12.6342	0.56675	0.0:0.0:0.0:1.0	.	274	Q9H3S5	PIGM_HUMAN	C	274	ENSP00000357069:Y274C	.	Y	-	2	0	PIGM	158267333	1.000000	0.71417	0.988000	0.46212	0.961000	0.63080	4.530000	0.60595	2.087000	0.62958	0.379000	0.24179	TAC		0.453	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167	
KCNJ10	3766	hgsc.bcm.edu	37	1	160011619	160011619	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:160011619T>C	ENST00000368089.3	-	2	930	c.704A>G	c.(703-705)aAt>aGt	p.N235S	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	235					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)	p.N235S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GAAAGTCACATTGACCTGGTT	0.498																																					p.N235S	GBM(167;1368 2014 14817 36425 43215)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A704G	1						.						134.0	129.0	131.0					1																	160011619		2203	4300	6503	158278243	SO:0001583	missense	3766	exon2			U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.704A>G	1.37:g.160011619T>C	ENSP00000357068:p.Asn235Ser	Somatic		Capture	SOLID	Phase_I	158278243	NM_002241	A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.758759	0.31137	.	.	ENSG00000177807	ENST00000368089	D	0.94000	-3.33	5.44	5.44	0.79542	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.83903	0.5355	N	0.21583	0.68	0.54753	D	0.999982	B	0.28933	0.228	B	0.30316	0.114	D	0.84934	0.0861	10	0.59425	D	0.04	.	13.502	0.61462	0.0:0.0:0.0:1.0	.	235	P78508	IRK10_HUMAN	S	235	ENSP00000357068:N235S	ENSP00000357068:N235S	N	-	2	0	KCNJ10	158278243	0.999000	0.42202	0.998000	0.56505	0.992000	0.81027	2.045000	0.41250	2.288000	0.76882	0.533000	0.62120	AAT		0.498	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241	
F11R	50848	hgsc.bcm.edu	37	1	160969966	160969966	+	Silent	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:160969966G>T	ENST00000368026.6	-	5	835	c.561C>A	c.(559-561)tcC>tcA	p.S187S	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Silent_p.S138S	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	187	Ig-like V-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.S187S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TCAGGACATAGGAAGAGTTGC	0.498																																					p.S187S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C561A	1						.						131.0	120.0	124.0					1																	160969966		2203	4300	6503	159236590	SO:0001819	synonymous_variant	50848	exon5			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.561C>A	1.37:g.160969966G>T		Somatic		Capture	SOLID	Phase_I	159236590	NM_016946	B7Z941	Silent	SNP	ENST00000368026.6	37	CCDS1213.1																																																																																				0.498	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946	
POGK	57645	hgsc.bcm.edu	37	1	166818327	166818327	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:166818327T>A	ENST00000367875.1	+	5	871	c.511T>A	c.(511-513)Tac>Aac	p.Y171N	POGK_ENST00000536514.1_Missense_Mutation_p.Y86N|POGK_ENST00000367876.4_Missense_Mutation_p.Y171N|POGK_ENST00000537173.1_Missense_Mutation_p.Y53N			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	171					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y171N(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GTACCCCTTCTACATGGCCAT	0.587																																					p.Y171N	GBM(76;192 1530 30153 48742)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T511A	1						.						97.0	86.0	90.0					1																	166818327		2203	4300	6503	165084951	SO:0001583	missense	57645	exon5			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.511T>A	1.37:g.166818327T>A	ENSP00000356849:p.Tyr171Asn	Somatic		Capture	SOLID	Phase_I	165084951	NM_017542	Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210615	0.39102	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T;T	0.37058	1.28;1.22;4.38;4.59;4.59	5.39	4.23	0.50019	.	0.165905	0.28964	N	0.013573	T	0.12008	0.0292	N	0.24115	0.695	0.34210	D	0.674214	B;B;B	0.23650	0.018;0.089;0.089	B;B;B	0.26517	0.059;0.044;0.07	T	0.06110	-1.0845	9	0.87932	D	0	-7.7248	9.1341	0.36863	0.0:0.0:0.184:0.816	.	53;86;171	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	N	53;86;171;171;171	ENSP00000442763:Y53N;ENSP00000441187:Y86N;ENSP00000404402:Y171N;ENSP00000356850:Y171N;ENSP00000356849:Y171N	ENSP00000356849:Y171N	Y	+	1	0	POGK	165084951	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.334000	0.52097	1.014000	0.39417	0.533000	0.62120	TAC		0.587	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542	
TNR	7143	hgsc.bcm.edu	37	1	175360531	175360531	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:175360531G>A	ENST00000367674.2	-	7	2108	c.1400C>T	c.(1399-1401)aCg>aTg	p.T467M	TNR_ENST00000263525.2_Missense_Mutation_p.T467M			Q92752	TENR_HUMAN	tenascin R	467	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.T467M(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTAAAGGACGTAACATCGCT	0.537																																					p.T467M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1400T	1						.						59.0	58.0	58.0					1																	175360531		2203	4300	6503	173627154	SO:0001583	missense	7143	exon7			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1400C>T	1.37:g.175360531G>A	ENSP00000356646:p.Thr467Met	Somatic		Capture	SOLID	Phase_I	173627154	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054972	0.75960	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.59502	0.26;0.26	5.33	5.33	0.75918	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.056192	0.64402	D	0.000001	T	0.79505	0.4457	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.82568	-0.0392	10	0.66056	D	0.02	.	18.6187	0.91313	0.0:0.0:1.0:0.0	.	467	Q92752	TENR_HUMAN	M	467	ENSP00000356646:T467M;ENSP00000263525:T467M	ENSP00000263525:T467M	T	-	2	0	TNR	173627154	1.000000	0.71417	0.853000	0.33588	0.836000	0.47400	7.377000	0.79668	2.486000	0.83907	0.655000	0.94253	ACG		0.537	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
RASAL2	9462	hgsc.bcm.edu	37	1	178414704	178414704	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:178414704G>A	ENST00000462775.1	+	7	1215	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	RASAL2_ENST00000448150.3_Missense_Mutation_p.D494N|RASAL2_ENST00000367649.3_Missense_Mutation_p.D512N	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	364	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.D512N(1)|p.D494N(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGGAGAGCATGATGTCTTGAT	0.418																																					p.D512N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1534A	1						.						167.0	139.0	148.0					1																	178414704		2203	4300	6503	176681327	SO:0001583	missense	9462	exon9			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1090G>A	1.37:g.178414704G>A	ENSP00000420558:p.Asp364Asn	Somatic		Capture	SOLID	Phase_I	176681327	NM_170692	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469939	0.96274	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.79653	-1.29;-1.29;-1.29	5.28	5.28	0.74379	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	N	0.17474	0.49	0.80722	D	1	D;D	0.60160	0.987;0.982	D;P	0.67382	0.951;0.873	D	0.85943	0.1459	10	0.87932	D	0	.	18.9209	0.92525	0.0:0.0:1.0:0.0	.	364;512	Q9UJF2;F8W755	NGAP_HUMAN;.	N	494;512;364	ENSP00000407768:D494N;ENSP00000356621:D512N;ENSP00000420558:D364N	ENSP00000356621:D512N	D	+	1	0	RASAL2	176681327	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.652000	0.98499	2.466000	0.83321	0.655000	0.94253	GAT		0.418	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692	
ZNF648	127665	hgsc.bcm.edu	37	1	182026705	182026705	+	Silent	SNP	C	C	T	rs373301859		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:182026705C>T	ENST00000339948.3	-	2	648	c.441G>A	c.(439-441)gcG>gcA	p.A147A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	147					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.A147A(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CATCATCACCCGCAGGTAGTC	0.562																																					p.A147A	NSCLC(71;908 1374 5429 20458 35642)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G441A	1						.	C		1,4405	2.1+/-5.4	0,1,2202	76.0	74.0	74.0		441	-5.4	0.0	1		74	0,8600		0,0,4300	no	coding-synonymous	ZNF648	NM_001009992.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		147/569	182026705	1,13005	2203	4300	6503	180293328	SO:0001819	synonymous_variant	127665	exon2			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.441G>A	1.37:g.182026705C>T		Somatic		Capture	SOLID	Phase_I	180293328	NM_001009992	B2RP16	Silent	SNP	ENST00000339948.3	37	CCDS30952.1																																																																																				0.562	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597	
ZNF648	127665	hgsc.bcm.edu	37	1	182026755	182026755	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:182026755C>T	ENST00000339948.3	-	2	598	c.391G>A	c.(391-393)Gca>Aca	p.A131T		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	131					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.A131T(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AATTTGTGTGCGAGACCACTG	0.567																																					p.A131T	NSCLC(71;908 1374 5429 20458 35642)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G391A	1						.						88.0	85.0	86.0					1																	182026755		2203	4300	6503	180293378	SO:0001583	missense	127665	exon2			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.391G>A	1.37:g.182026755C>T	ENSP00000344129:p.Ala131Thr	Somatic		Capture	SOLID	Phase_I	180293378	NM_001009992	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	6.079	0.382807	0.11524	.	.	ENSG00000179930	ENST00000339948	T	0.06449	3.3	2.61	-5.17	0.02849	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45308	-0.9270	9	0.24483	T	0.36	.	4.5936	0.12319	0.1751:0.5734:0.1143:0.1372	.	131	Q5T619	ZN648_HUMAN	T	131	ENSP00000344129:A131T	ENSP00000344129:A131T	A	-	1	0	ZNF648	180293378	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.618000	0.02049	-1.277000	0.02411	-1.072000	0.02254	GCA		0.567	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597	
RGL1	23179	hgsc.bcm.edu	37	1	183876197	183876197	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:183876197G>A	ENST00000360851.3	+	14	1702	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S	RGL1_ENST00000539189.1_Silent_p.S479S|RGL1_ENST00000536277.1_Silent_p.S506S|RGL1_ENST00000304685.4_Silent_p.S543S			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	508					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.S543S(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCACCACCTCGCCCAAGCCTC	0.552																																					p.S543S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1629A	1						.						48.0	44.0	45.0					1																	183876197		2203	4300	6503	182142820	SO:0001819	synonymous_variant	23179	exon15			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1524G>A	1.37:g.183876197G>A		Somatic		Capture	SOLID	Phase_I	182142820	NM_015149	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37																																																																																					0.552	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	
CDC73	79577	hgsc.bcm.edu	37	1	193202182	193202182	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:193202182T>C	ENST00000367435.3	+	14	1398	c.1214T>C	c.(1213-1215)aTa>aCa	p.I405T	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	405	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.I405T(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GAAACTCTAATACAAAGAAGA	0.383																																					p.I405T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1214C	1						.						83.0	83.0	83.0					1																	193202182		2203	4300	6503	191468805	SO:0001583	missense	79577	exon14			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1214T>C	1.37:g.193202182T>C	ENSP00000356405:p.Ile405Thr	Somatic		Capture	SOLID	Phase_I	191468805	NM_024529	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.452524	0.84209	.	.	ENSG00000134371	ENST00000367435	T	0.70399	-0.48	5.05	5.05	0.67936	.	0.048126	0.85682	D	0.000000	T	0.81805	0.4900	M	0.82056	2.57	0.80722	D	1	P	0.45011	0.848	P	0.56088	0.791	T	0.82912	-0.0222	10	0.45353	T	0.12	-19.56	15.0991	0.72258	0.0:0.0:0.0:1.0	.	405	Q6P1J9	CDC73_HUMAN	T	405	ENSP00000356405:I405T	ENSP00000356405:I405T	I	+	2	0	CDC73	191468805	1.000000	0.71417	0.971000	0.41717	0.985000	0.73830	7.446000	0.80609	2.044000	0.60594	0.533000	0.62120	ATA		0.383	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529	
CFH	3075	hgsc.bcm.edu	37	1	196648919	196648919	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:196648919T>C	ENST00000359637.2	+	5	656	c.594T>C	c.(592-594)tgT>tgC	p.C198C	CFH_ENST00000439155.2_Silent_p.C262C|CFH_ENST00000367429.4_Silent_p.C262C			P08603	CFAH_HUMAN	complement factor H	262	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.C262C(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGCCTTCATGTGAAGGTAATG	0.303																																					p.C262C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T786C	1						.						88.0	80.0	83.0					1																	196648919		2203	4298	6501	194915542	SO:0001819	synonymous_variant	3075	exon6			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.594T>C	1.37:g.196648919T>C		Somatic		Capture	SOLID	Phase_I	194915542	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000359637.2	37																																																																																					0.303	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186	
KIF21B	23046	hgsc.bcm.edu	37	1	200948799	200948799	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:200948799C>T	ENST00000422435.2	-	30	4340	c.4024G>A	c.(4024-4026)Gca>Aca	p.A1342T	KIF21B_ENST00000332129.2_Missense_Mutation_p.A1329T|KIF21B_ENST00000360529.5_Missense_Mutation_p.A1329T|KIF21B_ENST00000461742.2_Missense_Mutation_p.A1342T	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1342					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A1329T(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTTAGAGCTGCGATCTCCTGT	0.582											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A1329T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3985A	1						.						260.0	251.0	254.0					1																	200948799		2203	4300	6503	199215422	SO:0001583	missense	23046	exon29			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4024G>A	1.37:g.200948799C>T	ENSP00000411831:p.Ala1342Thr	Somatic	2118	Capture	SOLID	Phase_I	199215422	NM_017596	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346430	0.41599	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	4.88	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.372312	0.27072	N	0.021078	T	0.10121	0.0248	L	0.55990	1.75	0.32602	N	0.525726	P;P;P;P	0.45176	0.729;0.852;0.852;0.683	B;B;B;B	0.37480	0.137;0.251;0.251;0.084	T	0.18429	-1.0337	10	0.20046	T	0.44	.	18.0244	0.89264	0.0:1.0:0.0:0.0	.	1329;1342;1342;1329	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	T	1329;1329;1342;1342;1342	ENSP00000328494:A1329T;ENSP00000353724:A1329T;ENSP00000433808:A1342T;ENSP00000411831:A1342T	ENSP00000328494:A1329T	A	-	1	0	KIF21B	199215422	0.643000	0.27269	0.952000	0.39060	0.447000	0.32167	2.980000	0.49321	2.223000	0.72356	0.563000	0.77884	GCA		0.582	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	
NAV1	89796	hgsc.bcm.edu	37	1	201781771	201781771	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:201781771A>G	ENST00000367296.4	+	27	5623	c.5203A>G	c.(5203-5205)Acc>Gcc	p.T1735A	NAV1_ENST00000367302.1_Missense_Mutation_p.T1688A|NAV1_ENST00000367300.3_Missense_Mutation_p.T1675A|NAV1_ENST00000367297.4_Missense_Mutation_p.T1727A|NAV1_ENST00000367295.1_Missense_Mutation_p.T1341A|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.T1732A	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1735					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.T1732A(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GAAGCACAGCACCTCAGACTT	0.572																																					p.T1341A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4021G	1						.						143.0	127.0	133.0					1																	201781771		2203	4300	6503	200048394	SO:0001583	missense	89796	exon24			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5203A>G	1.37:g.201781771A>G	ENSP00000356265:p.Thr1735Ala	Somatic		Capture	SOLID	Phase_I	200048394	NM_001167738	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133397	0.77662	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295;ENST00000367301	T;T;T;T;T;T	0.07444	3.22;3.19;3.19;3.19;3.23;3.2	6.06	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	L	0.48362	1.52	0.44359	D	0.997253	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.995	T	0.00331	-1.1811	10	0.72032	D	0.01	-42.6097	11.8095	0.52175	0.9312:0.0:0.0688:0.0	.	1341;1732	Q8NEY1-5;Q8NEY1-3	.;.	A	1688;1735;1732;1727;1675;1341;144	ENSP00000356271:T1688A;ENSP00000356265:T1735A;ENSP00000295624:T1732A;ENSP00000356266:T1727A;ENSP00000356269:T1675A;ENSP00000356264:T1341A	ENSP00000295624:T1732A	T	+	1	0	NAV1	200048394	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.050000	0.64251	1.111000	0.41721	0.528000	0.53228	ACC		0.572	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443	
RNPEP	6051	hgsc.bcm.edu	37	1	201972384	201972384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:201972384G>A	ENST00000295640.4	+	9	1489	c.1446G>A	c.(1444-1446)tgG>tgA	p.W482*	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Nonsense_Mutation_p.W443*	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	482					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.W482*(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)		TTGATCGATGGCTGAATACCC	0.557																																					p.W482X	GBM(19;39 479 7473 13131 19462)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1446A	1						.						51.0	50.0	51.0					1																	201972384		2203	4300	6503	200239007	SO:0001587	stop_gained	6051	exon9			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.1446G>A	1.37:g.201972384G>A	ENSP00000295640:p.Trp482*	Somatic		Capture	SOLID	Phase_I	200239007	NM_020216	Q9BVM9|Q9H1D4|Q9NPT7	Nonsense_Mutation	SNP	ENST00000295640.4	37	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225584	0.95173	.	.	ENSG00000176393	ENST00000295640;ENST00000367286	.	.	.	5.46	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2656	12.9132	0.58190	0.0795:0.0:0.9205:0.0	.	.	.	.	X	482;443	.	ENSP00000295640:W482X	W	+	3	0	RNPEP	200239007	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.083000	0.94067	1.284000	0.44531	0.561000	0.74099	TGG		0.557	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216	
PPP1R15B	84919	hgsc.bcm.edu	37	1	204379158	204379158	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:204379158C>T	ENST00000367188.4	-	1	1761	c.1382G>A	c.(1381-1383)aGc>aAc	p.S461N	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	461					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.S461N(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TGACAGTGAGCTATCACTATC	0.453																																					p.S461N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1382A	1						.						124.0	125.0	125.0					1																	204379158		2203	4300	6503	202645781	SO:0001583	missense	84919	exon1			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1382G>A	1.37:g.204379158C>T	ENSP00000356156:p.Ser461Asn	Somatic		Capture	SOLID	Phase_I	202645781	NM_032833	Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507401	0.27036	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.34275	1.37	4.95	3.05	0.35203	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.261229	0.35870	N	0.002929	T	0.28665	0.0710	L	0.44542	1.39	0.21499	N	0.999662	B	0.12013	0.005	B	0.12837	0.008	T	0.21109	-1.0255	10	0.48119	T	0.1	-1.9025	9.2737	0.37688	0.0:0.8287:0.0:0.1713	.	461	Q5SWA1	PR15B_HUMAN	N	461;371	ENSP00000356156:S461N	ENSP00000356156:S461N	S	-	2	0	PPP1R15B	202645781	0.789000	0.28775	0.982000	0.44146	0.986000	0.74619	1.619000	0.36965	1.189000	0.43028	-0.150000	0.13652	AGC		0.453	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833	
RBBP5	5929	hgsc.bcm.edu	37	1	205065976	205065976	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:205065976G>A	ENST00000264515.6	-	12	1371	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	RBBP5_ENST00000367164.1_Silent_p.D410D	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	410					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)	p.D410D(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTTCTTCTGGGTCTTCTACCT	0.483																																					p.D410D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1230T	1						.						102.0	109.0	107.0					1																	205065976		2203	4300	6503	203332599	SO:0001819	synonymous_variant	5929	exon12			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1230C>T	1.37:g.205065976G>A		Somatic		Capture	SOLID	Phase_I	203332599	NM_005057	A8K272|Q7Z6D8|Q8NDZ7	Silent	SNP	ENST00000264515.6	37	CCDS30983.1																																																																																				0.483	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057	
HP1BP3	50809	hgsc.bcm.edu	37	1	21091888	21091888	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:21091888T>C	ENST00000312239.5	-	8	1011	c.872A>G	c.(871-873)aAg>aGg	p.K291R	HP1BP3_ENST00000375003.2_Missense_Mutation_p.K139R	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	291	H15 2. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K291R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|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;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CACTCTAAGCTTAGGATAATA	0.418																																					p.K291R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A872G	1						.						142.0	133.0	136.0					1																	21091888		2203	4300	6503	20964475	SO:0001583	missense	50809	exon8			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.872A>G	1.37:g.21091888T>C	ENSP00000312625:p.Lys291Arg	Somatic		Capture	SOLID	Phase_I	20964475	NM_016287	A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801870	0.70682	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000375003;ENST00000419948;ENST00000438032;ENST00000424732	T;T;T;T;T	0.25250	1.95;1.95;1.95;1.95;1.81	6.1	6.1	0.99115	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.222837	0.53938	D	0.000060	T	0.48259	0.1490	L	0.55481	1.735	0.80722	D	1	P;D	0.63046	0.874;0.992	P;D	0.76071	0.542;0.987	T	0.43278	-0.9401	10	0.72032	D	0.01	-15.2804	16.686	0.85306	0.0:0.0:0.0:1.0	.	253;291	Q5SSJ5-2;Q5SSJ5	.;HP1B3_HUMAN	R	291;253;139;150;291;253	ENSP00000312625:K291R;ENSP00000364142:K139R;ENSP00000391721:K150R;ENSP00000403039:K291R;ENSP00000402754:K253R	ENSP00000312625:K291R	K	-	2	0	HP1BP3	20964475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.483000	0.60264	2.340000	0.79590	0.528000	0.53228	AAG		0.418	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287	
EIF4G3	8672	hgsc.bcm.edu	37	1	21155645	21155645	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:21155645A>G	ENST00000264211.8	-	25	4208	c.4014T>C	c.(4012-4014)ctT>ctC	p.L1338L	EIF4G3_ENST00000536266.1_Silent_p.L942L|EIF4G3_ENST00000374935.3_Silent_p.L1058L|EIF4G3_ENST00000374937.3_Silent_p.L1344L|EIF4G3_ENST00000602326.1_Silent_p.L1344L|EIF4G3_ENST00000400422.1_Silent_p.L1338L|EIF4G3_ENST00000537738.1_Silent_p.L828L	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1338	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L1338L(1)|p.L1344L(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTTACATGGTAAGTTCTCTCA	0.403																																					p.L1338L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T4014C	1						.						104.0	109.0	107.0					1																	21155645		2203	4300	6503	21028232	SO:0001819	synonymous_variant	8672	exon26			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4014T>C	1.37:g.21155645A>G		Somatic		Capture	SOLID	Phase_I	21028232	NM_003760	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	CCDS214.1																																																																																				0.403	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
NUAK2	81788	hgsc.bcm.edu	37	1	205277816	205277816	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:205277816T>C	ENST00000367157.3	-	3	523	c.397A>G	c.(397-399)Agc>Ggc	p.S133G		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.S133G(1)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCGCCCCGGCTGGCATACTCC	0.572																																					p.S133G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A397G	1						.						66.0	53.0	57.0					1																	205277816		2203	4300	6503	203544439	SO:0001583	missense	81788	exon3			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.397A>G	1.37:g.205277816T>C	ENSP00000356125:p.Ser133Gly	Somatic		Capture	SOLID	Phase_I	203544439	NM_030952		Missense_Mutation	SNP	ENST00000367157.3	37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394519	0.83011	.	.	ENSG00000163545	ENST00000367157	T	0.25414	1.8	5.03	3.9	0.45041	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	0.53938	D	0.000049	T	0.28797	0.0714	N	0.11756	0.17	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66497	0.944;0.944	T	0.12372	-1.0550	10	0.87932	D	0	.	10.5608	0.45144	0.0:0.0775:0.0:0.9225	.	177;133	B4E0Y5;Q9H093	.;NUAK2_HUMAN	G	133	ENSP00000356125:S133G	ENSP00000356125:S133G	S	-	1	0	NUAK2	203544439	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.655000	0.83696	0.870000	0.35726	0.459000	0.35465	AGC		0.572	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952	
EIF4G3	8672	hgsc.bcm.edu	37	1	21268509	21268509	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:21268509C>A	ENST00000264211.8	-	8	1164	c.970G>T	c.(970-972)Gac>Tac	p.D324Y	EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D330Y|EIF4G3_ENST00000602326.1_Missense_Mutation_p.D330Y|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D324Y|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000374927.4_Missense_Mutation_p.D324Y|EIF4G3_ENST00000356916.3_Missense_Mutation_p.D335Y	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	324					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.D324Y(1)|p.D330Y(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGTAAAGGGTCTGATGTTTCT	0.388																																					p.D324Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G970T	1						.						229.0	219.0	222.0					1																	21268509		2203	4300	6503	21141096	SO:0001583	missense	8672	exon9			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.970G>T	1.37:g.21268509C>A	ENSP00000264211:p.Asp324Tyr	Somatic		Capture	SOLID	Phase_I	21141096	NM_003760	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542931	0.45280	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	6.17	2.93	0.34026	.	0.706405	0.15367	N	0.266056	T	0.17408	0.0418	N	0.14661	0.345	0.26693	N	0.97132	D;P;P;B;P	0.54047	0.964;0.845;0.904;0.371;0.828	P;B;P;B;B	0.51135	0.621;0.254;0.66;0.169;0.235	T	0.04752	-1.0929	10	0.59425	D	0.04	-3.2771	7.6115	0.28133	0.0:0.6538:0.1243:0.2219	.	324;519;450;330;324	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	Y	324;520;324;330;450;324;335	ENSP00000264211:D324Y;ENSP00000383274:D324Y;ENSP00000364073:D330Y;ENSP00000364062:D324Y	ENSP00000264211:D324Y	D	-	1	0	EIF4G3	21141096	0.915000	0.31059	1.000000	0.80357	0.970000	0.65996	1.368000	0.34216	0.955000	0.37878	-0.136000	0.14681	GAC		0.388	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
DTL	51514	hgsc.bcm.edu	37	1	212218052	212218052	+	Nonsense_Mutation	SNP	C	C	T	rs144767115		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:212218052C>T	ENST00000366991.4	+	3	543	c.229C>T	c.(229-231)Cga>Tga	p.R77*	DTL_ENST00000542077.1_Nonsense_Mutation_p.R35*|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	77					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R77*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AGGCTTTGTTCGATTGTATAA	0.299																																					p.R77X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C229T	1						.						69.0	71.0	71.0					1																	212218052		2203	4300	6503	210284675	SO:0001587	stop_gained	51514	exon3			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.229C>T	1.37:g.212218052C>T	ENSP00000355958:p.Arg77*	Somatic		Capture	SOLID	Phase_I	210284675	NM_016448	A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Nonsense_Mutation	SNP	ENST00000366991.4	37	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	C	36	5.781152	0.96929	.	.	ENSG00000143476	ENST00000366991;ENST00000542077	.	.	.	5.47	1.59	0.23543	.	0.105537	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.8128	13.0216	0.58791	0.5957:0.4043:0.0:0.0	.	.	.	.	X	77;35	.	ENSP00000355958:R77X	R	+	1	2	DTL	210284675	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	3.896000	0.56266	0.348000	0.23949	-0.457000	0.05445	CGA		0.299	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448	
PROX1	5629	hgsc.bcm.edu	37	1	214171555	214171555	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:214171555C>T	ENST00000366958.4	+	2	2285	c.1677C>T	c.(1675-1677)tgC>tgT	p.C559C	PROX1_ENST00000435016.1_Silent_p.C559C|PROX1_ENST00000261454.4_Silent_p.C559C|PROX1_ENST00000498508.2_Silent_p.C559C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	559					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.C559C(2)		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)		AGTCCGAGTGCGGCGATCTTC	0.493																																					p.C559C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1677T	1						.						90.0	94.0	93.0					1																	214171555		2203	4300	6503	212238178	SO:0001819	synonymous_variant	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.1677C>T	1.37:g.214171555C>T		Somatic		Capture	SOLID	Phase_I	212238178	NM_002763	A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	CCDS31021.1																																																																																				0.493	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	214830647	214830647	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:214830647T>C	ENST00000366955.3	+	18	9025	c.8857T>C	c.(8857-8859)Ttt>Ctt	p.F2953L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3049	Sufficient for centromere localization.|Sufficient for nuclear localization.				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.F2953L(1)		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)		CCCAGAGAGCTTTTCTAAAAA	0.458																																					p.F2953L	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T8857C	1						.						52.0	50.0	51.0					1																	214830647		2203	4300	6503	212897270	SO:0001583	missense	1063	exon18			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.8857T>C	1.37:g.214830647T>C	ENSP00000355922:p.Phe2953Leu	Somatic		Capture	SOLID	Phase_I	212897270	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195950	0.58126	.	.	ENSG00000117724	ENST00000366955	T	0.02916	4.11	5.61	3.28	0.37604	.	0.207321	0.24433	N	0.038571	T	0.03827	0.0108	M	0.70595	2.14	0.09310	N	1	B	0.27229	0.172	B	0.18871	0.023	T	0.40701	-0.9549	10	0.87932	D	0	.	3.3588	0.07178	0.2292:0.0657:0.1189:0.5862	.	3049	P49454	CENPF_HUMAN	L	2953	ENSP00000355922:F2953L	ENSP00000355922:F2953L	F	+	1	0	CENPF	212897270	0.138000	0.22547	0.306000	0.25113	0.730000	0.41778	2.029000	0.41098	0.489000	0.27749	0.533000	0.62120	TTT		0.458	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
USH2A	7399	hgsc.bcm.edu	37	1	216262465	216262465	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:216262465A>G	ENST00000307340.3	-	23	5161	c.4775T>C	c.(4774-4776)gTa>gCa	p.V1592A	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.V1592A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1592	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.V1592A(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)		AGTTGTAGTTACTTCCACTGG	0.338										HNSCC(13;0.011)																											p.V1592A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4775C	1						.						179.0	164.0	170.0					1																	216262465		2203	4300	6503	214329088	SO:0001583	missense	7399	exon23			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.4775T>C	1.37:g.216262465A>G	ENSP00000305941:p.Val1592Ala	Somatic		Capture	SOLID	Phase_I	214329088	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.976931	0.74360	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.80304	-1.36;-1.36	5.8	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.39687	N	0.001286	T	0.81692	0.4876	M	0.81942	2.565	0.40518	D	0.980804	P	0.41978	0.767	B	0.41299	0.353	T	0.82725	-0.0315	10	0.59425	D	0.04	.	12.2306	0.54486	0.8724:0.0:0.0:0.1276	.	1592	O75445	USH2A_HUMAN	A	1592	ENSP00000305941:V1592A;ENSP00000355910:V1592A	ENSP00000305941:V1592A	V	-	2	0	USH2A	214329088	1.000000	0.71417	0.924000	0.36721	0.796000	0.44982	7.756000	0.85195	0.983000	0.38602	0.533000	0.62120	GTA		0.338	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
EPHB2	2048	hgsc.bcm.edu	37	1	23236932	23236932	+	Missense_Mutation	SNP	G	G	A	rs549199396		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:23236932G>A	ENST00000400191.3	+	14	2578	c.2560G>A	c.(2560-2562)Gcc>Acc	p.A854T	EPHB2_ENST00000374632.3_Missense_Mutation_p.A855T|EPHB2_ENST00000374627.1_Missense_Mutation_p.A849T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A854T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	854	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.A854T(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CTGCCCGAGCGCCCTGCACCA	0.587																																					p.A854T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2560A	1						.						122.0	89.0	100.0					1																	23236932		2203	4300	6503	23109519	SO:0001583	missense	2048	exon14			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2560G>A	1.37:g.23236932G>A	ENSP00000383053:p.Ala854Thr	Somatic		Capture	SOLID	Phase_I	23109519	NM_017449	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.070225	0.76301	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	4.64	4.64	0.57946	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	L	0.28556	0.865	0.80722	D	1	B;B;B;B	0.32203	0.043;0.36;0.066;0.017	B;B;B;B	0.23150	0.006;0.044;0.018;0.019	T	0.76506	-0.2934	10	0.66056	D	0.02	.	16.6405	0.85070	0.0:0.0:1.0:0.0	.	796;854;872;855	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	T	796;854;854;855;849	ENSP00000363761:A854T;ENSP00000383053:A854T;ENSP00000363763:A855T;ENSP00000363758:A849T	ENSP00000363755:A796T	A	+	1	0	EPHB2	23109519	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	7.803000	0.85983	2.586000	0.87340	0.555000	0.69702	GCC		0.587	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449	
TLR5	7100	hgsc.bcm.edu	37	1	223285572	223285572	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:223285572C>T	ENST00000540964.1	-	4	1263	c.802G>A	c.(802-804)Ggg>Agg	p.G268R	TLR5_ENST00000342210.6_Missense_Mutation_p.G268R			O60602	TLR5_HUMAN	toll-like receptor 5	268					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)	p.G268R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAGCCAAACCCGGCACCCATG	0.488																																					p.G268R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G802A	1						.						96.0	87.0	90.0					1																	223285572		2203	4300	6503	221352195	SO:0001583	missense	7100	exon6				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.802G>A	1.37:g.223285572C>T	ENSP00000440643:p.Gly268Arg	Somatic		Capture	SOLID	Phase_I	221352195	NM_003268	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437485	0.25900	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.36878	1.23;1.23;1.23	5.27	2.33	0.28932	.	0.317722	0.32357	N	0.006211	T	0.57227	0.2039	M	0.85041	2.73	0.09310	N	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.48885	-0.8995	10	0.62326	D	0.03	.	5.7728	0.18263	0.2504:0.561:0.1211:0.0675	.	268	O60602	TLR5_HUMAN	R	268	ENSP00000440643:G268R;ENSP00000355846:G268R;ENSP00000340089:G268R	ENSP00000340089:G268R	G	-	1	0	TLR5	221352195	0.000000	0.05858	0.002000	0.10522	0.155000	0.21991	0.430000	0.21428	0.203000	0.20529	-0.137000	0.14449	GGG		0.488	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268	
WRAP73	49856	hgsc.bcm.edu	37	1	3564061	3564061	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:3564061A>G	ENST00000270708.7	-	2	206	c.133T>C	c.(133-135)Tac>Cac	p.Y45H	WRAP73_ENST00000378322.3_Missense_Mutation_p.Y45H	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	45						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.Y45H(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AGGCACGTGTACAGCTGAAGG	0.542																																					p.Y45H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T133C	1						.						128.0	100.0	109.0					1																	3564061		2202	4299	6501	3553921	SO:0001583	missense	49856	exon2			AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.133T>C	1.37:g.3564061A>G	ENSP00000270708:p.Tyr45His	Somatic		Capture	SOLID	Phase_I	3553921	NM_017818	Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	CCDS48.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310949	0.60414	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367;ENST00000419924	T;T;T	0.50277	0.75;0.75;0.75	5.13	5.13	0.70059	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	M	0.72118	2.19	0.80722	D	1	P;P;P	0.50272	0.621;0.89;0.933	B;B;P	0.47603	0.237;0.349;0.551	T	0.51505	-0.8697	10	0.17369	T	0.5	-50.3309	14.3968	0.67015	1.0:0.0:0.0:0.0	.	45;45;45	B4DYE9;Q9P2S5;Q5T0D5	.;WRP73_HUMAN;.	H	45	ENSP00000270708:Y45H;ENSP00000367573:Y45H;ENSP00000416192:Y45H	ENSP00000270708:Y45H	Y	-	1	0	WRAP73	3553921	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.394000	0.79862	2.037000	0.60232	0.533000	0.62120	TAC		0.542	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1		
CCDC27	148870	hgsc.bcm.edu	37	1	3673422	3673422	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:3673422A>G	ENST00000294600.2	+	4	763	c.679A>G	c.(679-681)Atg>Gtg	p.M227V		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	227								p.M227V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GAGAAAGAGGATGCCCTGGTA	0.597																																					p.M227V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A679G	1						.						43.0	42.0	42.0					1																	3673422		2203	4300	6503	3663282	SO:0001583	missense	148870	exon4				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.679A>G	1.37:g.3673422A>G	ENSP00000294600:p.Met227Val	Somatic		Capture	SOLID	Phase_I	3663282	NM_152492	Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	CCDS50.1	.	.	.	.	.	.	.	.	.	.	A	0.418	-0.909993	0.02434	.	.	ENSG00000162592	ENST00000294600	T	0.17213	2.29	4.06	-3.08	0.05347	.	1.531390	0.03788	N	0.262392	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29761	-1.0001	10	0.09084	T	0.74	-7.7747	5.2648	0.15593	0.448:0.1595:0.3926:0.0	.	227	Q2M243	CCD27_HUMAN	V	227	ENSP00000294600:M227V	ENSP00000294600:M227V	M	+	1	0	CCDC27	3663282	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.066000	0.03454	-0.709000	0.05008	0.260000	0.18958	ATG		0.597	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	
IL22RA1	58985	hgsc.bcm.edu	37	1	24460820	24460820	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:24460820T>C	ENST00000270800.1	-	4	450	c.412A>G	c.(412-414)Att>Gtt	p.I138V		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	138					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)	p.I138V(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GGATGAACAATCATCTGAATC	0.502																																					p.I138V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A412G	1						.						116.0	104.0	108.0					1																	24460820		2203	4300	6503	24333407	SO:0001583	missense	58985	exon4			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.412A>G	1.37:g.24460820T>C	ENSP00000270800:p.Ile138Val	Somatic		Capture	SOLID	Phase_I	24333407	NM_021258	A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	ENST00000270800.1	37	CCDS247.1	.	.	.	.	.	.	.	.	.	.	T	6.881	0.531999	0.13127	.	.	ENSG00000142677	ENST00000270800	T	0.41400	1.0	4.8	-2.34	0.06704	Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.988179	0.08256	N	0.973728	T	0.21962	0.0529	N	0.19112	0.55	0.20307	N	0.999916	B;B	0.14438	0.01;0.0	B;B	0.14578	0.011;0.002	T	0.27468	-1.0073	10	0.14252	T	0.57	-27.8134	5.5541	0.17107	0.0:0.3716:0.1553:0.4731	.	30;138	B4E2V9;Q8N6P7	.;I22R1_HUMAN	V	138	ENSP00000270800:I138V	ENSP00000270800:I138V	I	-	1	0	IL22RA1	24333407	0.037000	0.19845	0.798000	0.32154	0.658000	0.38924	-0.209000	0.09358	-0.402000	0.07633	0.459000	0.35465	ATT		0.502	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1		
TXLNA	200081	hgsc.bcm.edu	37	1	32655671	32655671	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:32655671C>T	ENST00000373609.1	+	5	1065	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	TXLNA_ENST00000373610.3_Missense_Mutation_p.R262W			P40222	TXLNA_HUMAN	taxilin alpha	262					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)	p.R262W(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGGTGTGCAGCGGGCCCGGGA	0.577																																					p.R262W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C784T	1						.						58.0	52.0	54.0					1																	32655671		2203	4296	6499	32428258	SO:0001583	missense	200081	exon6			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.784C>T	1.37:g.32655671C>T	ENSP00000362711:p.Arg262Trp	Somatic		Capture	SOLID	Phase_I	32428258	NM_175852	D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	ENST00000373609.1	37	CCDS353.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828000	0.71143	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.34667	1.35;1.35	5.09	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.61223	0.2330	M	0.88105	2.93	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.66252	-0.5970	10	0.87932	D	0	-19.2475	8.2944	0.31976	0.2641:0.6591:0.0:0.0768	.	262	P40222	TXLNA_HUMAN	W	262	ENSP00000362712:R262W;ENSP00000362711:R262W	ENSP00000362711:R262W	R	+	1	2	TXLNA	32428258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.062000	0.41413	2.529000	0.85273	0.650000	0.86243	CGG		0.577	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852	
HDAC1	3065	hgsc.bcm.edu	37	1	32797380	32797380	+	Missense_Mutation	SNP	G	G	A	rs568463703		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:32797380G>A	ENST00000373548.3	+	11	1276	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Missense_Mutation_p.E205K	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	398					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|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)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E398K(2)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CGATGAGGACGAAGACGACCC	0.572													g|||	1	0.000199681	0.0	0.0	5008	,	,		20392	0.0		0.0	False		,,,				2504	0.001				p.E398K												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G1192A	1						.						93.0	88.0	90.0					1																	32797380		2203	4300	6503	32569967	SO:0001583	missense	3065	exon11			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.1192G>A	1.37:g.32797380G>A	ENSP00000362649:p.Glu398Lys	Somatic		Capture	SOLID	Phase_I	32569967	NM_004964	Q92534	Missense_Mutation	SNP	ENST00000373548.3	37	CCDS360.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379691	0.42207	.	.	ENSG00000116478	ENST00000373548;ENST00000373541	T;T	0.74632	-0.86;-0.56	4.52	3.61	0.41365	.	0.094754	0.64402	N	0.000001	T	0.59032	0.2164	N	0.17764	0.52	0.50813	D	0.999894	B	0.13145	0.007	B	0.11329	0.006	T	0.53099	-0.8486	10	0.26408	T	0.33	-16.1074	13.4973	0.61434	0.0779:0.0:0.9221:0.0	.	398	Q13547	HDAC1_HUMAN	K	398;205	ENSP00000362649:E398K;ENSP00000362642:E205K	ENSP00000362642:E205K	E	+	1	0	HDAC1	32569967	1.000000	0.71417	0.999000	0.59377	0.400000	0.30750	6.452000	0.73485	1.224000	0.43551	-0.213000	0.12676	GAA		0.572	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3	NM_004964	
CSMD2	114784	hgsc.bcm.edu	37	1	34046407	34046407	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:34046407G>A	ENST00000373381.4	-	48	7509	c.7333C>T	c.(7333-7335)Cgt>Tgt	p.R2445C		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2447	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2447C(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GATGACCAACGCAGGTACACA	0.517																																					p.R2447C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7339T	1						.						113.0	100.0	104.0					1																	34046407		2203	4300	6503	33818994	SO:0001583	missense	114784	exon49			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7333C>T	1.37:g.34046407G>A	ENSP00000362479:p.Arg2445Cys	Somatic		Capture	SOLID	Phase_I	33818994	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	G	32	5.182527	0.94885	.	.	ENSG00000121904	ENST00000373381	T	0.37058	1.22	5.9	5.9	0.94986	CUB (5);	0.057925	0.64402	D	0.000001	T	0.70334	0.3212	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.73341	-0.4013	10	0.35671	T	0.21	.	19.2604	0.93966	0.0:0.0:1.0:0.0	.	2447;2445	Q7Z408;E7EUA6	CSMD2_HUMAN;.	C	2445	ENSP00000362479:R2445C	ENSP00000241312:R2447C	R	-	1	0	CSMD2	33818994	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.806000	0.99153	2.793000	0.96121	0.563000	0.77884	CGT		0.517	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
DLGAP3	58512	hgsc.bcm.edu	37	1	35370836	35370836	+	Missense_Mutation	SNP	G	G	A	rs544160613		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:35370836G>A	ENST00000373347.1	-	3	417	c.149C>T	c.(148-150)cCg>cTg	p.P50L	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P50L|DLGAP3_ENST00000495979.1_5'UTR			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	50					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.P50L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCAGCTCTCGGGGCACAGAA	0.687																																					p.P50L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C149T	1						.						7.0	9.0	8.0					1																	35370836		2177	4259	6436	35143423	SO:0001583	missense	58512	exon1			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.149C>T	1.37:g.35370836G>A	ENSP00000362444:p.Pro50Leu	Somatic		Capture	SOLID	Phase_I	35143423	NM_001080418	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959835	0.34565	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.26223	1.75;1.75	4.48	4.48	0.54585	.	0.571042	0.15628	N	0.252510	T	0.22742	0.0549	L	0.41492	1.28	0.31819	N	0.626236	B	0.18461	0.028	B	0.08055	0.003	T	0.11060	-1.0603	10	0.42905	T	0.14	-9.5109	13.1169	0.59305	0.0:0.2157:0.7843:0.0	.	50	O95886	DLGP3_HUMAN	L	50	ENSP00000362444:P50L;ENSP00000235180:P50L	ENSP00000235180:P50L	P	-	2	0	DLGAP3	35143423	0.888000	0.30383	0.995000	0.50966	0.997000	0.91878	2.191000	0.42640	2.048000	0.60808	0.448000	0.29417	CCG		0.687	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234	
KIAA0319L	79932	hgsc.bcm.edu	37	1	35920001	35920001	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:35920001T>C	ENST00000325722.3	-	11	1976	c.1742A>G	c.(1741-1743)cAg>cGg	p.Q581R	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.Q18R	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	581	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q581R(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTGGCCTGCTGTCCTATTGT	0.473																																					p.Q581R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1742G	1						.						193.0	152.0	166.0					1																	35920001		2203	4300	6503	35692588	SO:0001583	missense	79932	exon11			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1742A>G	1.37:g.35920001T>C	ENSP00000318406:p.Gln581Arg	Somatic		Capture	SOLID	Phase_I	35692588	NM_024874	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	CCDS390.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428634	0.83667	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982;ENST00000440579	T;T;T;T	0.69685	2.58;2.58;2.58;-0.42	6.17	6.17	0.99709	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (3);	0.052794	0.85682	D	0.000000	T	0.72260	0.3438	M	0.72894	2.215	0.80722	D	1	P;P;B	0.47762	0.897;0.9;0.411	P;P;B	0.46585	0.488;0.521;0.341	T	0.75780	-0.3197	10	0.62326	D	0.03	-10.5984	16.0034	0.80327	0.0:0.0:0.0:1.0	.	581;581;18	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	R	581;18;581;581	ENSP00000318406:Q581R;ENSP00000362363:Q18R;ENSP00000395883:Q581R;ENSP00000407576:Q581R	ENSP00000318406:Q581R	Q	-	2	0	KIAA0319L	35692588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.991000	0.88244	2.371000	0.80710	0.533000	0.62120	CAG		0.473	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874	
AGO1	26523	hgsc.bcm.edu	37	1	36372666	36372666	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:36372666T>C	ENST00000373204.4	+	12	1741	c.1528T>C	c.(1528-1530)Tac>Cac	p.Y510H	AGO1_ENST00000373206.1_Missense_Mutation_p.Y435H	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	510					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)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y510H(1)									CAAGAACACCTACTCAGGGCT	0.522																																					p.Y510H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1528C	1						.						135.0	108.0	117.0					1																	36372666		2203	4300	6503	36145253	SO:0001583	missense	26523	exon12			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1528T>C	1.37:g.36372666T>C	ENSP00000362300:p.Tyr510His	Somatic		Capture	SOLID	Phase_I	36145253	NM_012199	Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	CCDS398.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173965	0.57692	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.09630	2.96;2.96	5.58	5.58	0.84498	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.11665	0.0284	L	0.41573	1.285	0.80722	D	1	B	0.10296	0.003	B	0.24394	0.053	T	0.12941	-1.0528	10	0.20046	T	0.44	-11.5515	15.7578	0.78051	0.0:0.0:0.0:1.0	.	510	Q9UL18	AGO1_HUMAN	H	435;510	ENSP00000362302:Y435H;ENSP00000362300:Y510H	ENSP00000362300:Y510H	Y	+	1	0	EIF2C1	36145253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.120000	0.65058	0.528000	0.53228	TAC		0.522	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3		
GJA9	81025	hgsc.bcm.edu	37	1	39340893	39340893	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:39340893T>G	ENST00000360786.3	-	1	1130	c.878A>C	c.(877-879)cAc>cCc	p.H293P	RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Missense_Mutation_p.H293P|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Missense_Mutation_p.H293P|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	293					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CACTGCAGTGTGTGTTTGCTT	0.393																																					p.H293P												.	.	0			c.A878C	1						.						112.0	110.0	111.0					1																	39340893		2203	4300	6503	39113480	SO:0001583	missense	81025	exon2			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.878A>C	1.37:g.39340893T>G	ENSP00000354020:p.His293Pro	Somatic		Capture	SOLID	Phase_I	39113480	NM_030772	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	CCDS432.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.522741	0.27211	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.97642	-4.47;-4.39;-4.39	4.94	3.81	0.43845	.	766.736000	0.00166	N	0.000003	D	0.95162	0.8432	N	0.19112	0.55	0.09310	N	1	D	0.57899	0.981	P	0.48873	0.593	D	0.88800	0.3284	10	0.29301	T	0.29	.	10.0138	0.42003	0.0:0.0827:0.0:0.9173	.	293	P57773	CXA9_HUMAN	P	293	ENSP00000406846:H293P;ENSP00000350415:H293P;ENSP00000354020:H293P	ENSP00000350415:H293P	H	-	2	0	GJA9	39113480	0.012000	0.17670	0.016000	0.15963	0.920000	0.55202	1.880000	0.39628	0.972000	0.38314	0.533000	0.62120	CAC		0.393	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772	
SLFNL1	200172	hgsc.bcm.edu	37	1	41483571	41483571	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:41483571G>A	ENST00000359345.1	-	2	3269	c.693C>T	c.(691-693)agC>agT	p.S231S	SLFNL1_ENST00000372613.2_Silent_p.S231S|SLFNL1_ENST00000302946.8_Silent_p.S231S|SLFNL1_ENST00000397197.2_Silent_p.S231S|SLFNL1_ENST00000439569.2_Silent_p.S231S|SLFNL1_ENST00000372611.1_Silent_p.S172S	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	231							ATP binding (GO:0005524)	p.S231S(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GGTACTCGCCGCTACCCCGCT	0.632																																					p.S231S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C693T	1						.						52.0	44.0	47.0					1																	41483571		2203	4300	6503	41256158	SO:0001819	synonymous_variant	200172	exon3			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.693C>T	1.37:g.41483571G>A		Somatic		Capture	SOLID	Phase_I	41256158	NM_144990	A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Silent	SNP	ENST00000359345.1	37	CCDS460.1																																																																																				0.632	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990	
CFAP57	149465	hgsc.bcm.edu	37	1	43638430	43638430	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:43638430A>G	ENST00000372492.4	+	2	330	c.6A>G	c.(4-6)tcA>tcG	p.S2S	EBNA1BP2_ENST00000472982.1_5'Flank|EBNA1BP2_ENST00000236051.2_5'Flank|EBNA1BP2_ENST00000431635.2_5'Flank|WDR65_ENST00000528956.1_Silent_p.S2S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		2								p.S2S(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)				AGATCATGTCAGCCGTGGTAG	0.562																																					p.S2S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A6G	1						.						112.0	101.0	105.0					1																	43638430		2203	4300	6503	43411017	SO:0001819	synonymous_variant	149465	exon2																														ENST00000372492.4:c.6A>G	1.37:g.43638430A>G		Somatic		Capture	SOLID	Phase_I	43411017	NM_001167966	A6NKQ3|Q17RI9|Q5TAI0	Silent	SNP	ENST00000372492.4	37																																																																																					0.562	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1		
PTPRF	5792	hgsc.bcm.edu	37	1	44019259	44019259	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:44019259G>A	ENST00000359947.4	+	4	528	c.188G>A	c.(187-189)cGc>cAc	p.R63H	PTPRF_ENST00000438120.1_Missense_Mutation_p.R63H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R63H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R63H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	63	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R53H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCAAGCCGCGCATCACATGG	0.597																																					p.R63H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G188A	1						.						185.0	177.0	180.0					1																	44019259		2203	4300	6503	43791846	SO:0001583	missense	5792	exon4			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.188G>A	1.37:g.44019259G>A	ENSP00000353030:p.Arg63His	Somatic		Capture	SOLID	Phase_I	43791846	NM_130440	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820429	0.71028	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33161	N	0.005202	T	0.66127	0.2758	N	0.16708	0.43	0.80722	D	1	D;P;D;D	0.67145	0.995;0.914;0.963;0.996	P;B;P;P	0.58331	0.823;0.353;0.485;0.837	T	0.65487	-0.6156	9	.	.	.	.	18.4352	0.90643	0.0:0.0:1.0:0.0	.	63;63;63;63	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	H	63	ENSP00000353030:R63H;ENSP00000398822:R63H;ENSP00000361491:R63H;ENSP00000361490:R63H;ENSP00000413306:R63H	.	R	+	2	0	PTPRF	43791846	0.999000	0.42202	0.926000	0.36857	0.849000	0.48306	5.805000	0.69143	2.405000	0.81733	0.655000	0.94253	CGC		0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
SLC6A9	6536	hgsc.bcm.edu	37	1	44468304	44468304	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:44468304C>T	ENST00000360584.2	-	7	1148	c.957G>A	c.(955-957)acG>acA	p.T319T	SLC6A9_ENST00000372307.3_Silent_p.T181T|SLC6A9_ENST00000537678.1_Silent_p.T181T|SLC6A9_ENST00000475075.2_Silent_p.T135T|SLC6A9_ENST00000372306.3_Silent_p.T246T|SLC6A9_ENST00000372310.3_Silent_p.T246T|SLC6A9_ENST00000357730.2_Silent_p.T265T	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	319					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.T246T(1)|p.T319T(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGAACGTGGCCGTGAAGTACA	0.622																																					p.T319T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G957A	1						.						96.0	95.0	95.0					1																	44468304		2203	4300	6503	44240891	SO:0001819	synonymous_variant	6536	exon7			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.957G>A	1.37:g.44468304C>T		Somatic		Capture	SOLID	Phase_I	44240891	NM_201649	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	CCDS41317.1																																																																																				0.622	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649	
RAD54L	8438	hgsc.bcm.edu	37	1	46743510	46743510	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:46743510A>G	ENST00000371975.4	+	17	2565	c.1891A>G	c.(1891-1893)Atc>Gtc	p.I631V	LRRC41_ENST00000472710.1_5'Flank|RAD54L_ENST00000442598.1_Missense_Mutation_p.I631V	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	631	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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.I631V(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)		TGAGGAGAAGATCTTCCAGCG	0.537								Direct reversal of damage;Homologous recombination																													p.I631V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1891G	1						.						91.0	85.0	87.0					1																	46743510		2203	4300	6503	46516097	SO:0001583	missense	8438	exon18			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.1891A>G	1.37:g.46743510A>G	ENSP00000361043:p.Ile631Val	Somatic		Capture	SOLID	Phase_I	46516097	NM_001142548	Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	CCDS532.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679988	0.68042	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.37058	1.22;1.22	5.14	5.14	0.70334	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	L	0.43646	1.37	0.80722	D	1	B;P	0.41498	0.392;0.752	B;B	0.41440	0.121;0.357	T	0.14868	-1.0457	10	0.46703	T	0.11	-14.0222	15.122	0.72450	1.0:0.0:0.0:0.0	.	451;631	G3V1N0;Q92698	.;RAD54_HUMAN	V	631;631;451	ENSP00000396113:I631V;ENSP00000361043:I631V	ENSP00000361043:I631V	I	+	1	0	RAD54L	46516097	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.973000	0.76116	2.169000	0.68431	0.459000	0.35465	ATC		0.537	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579	
LRRC41	10489	hgsc.bcm.edu	37	1	46763278	46763278	+	Missense_Mutation	SNP	C	C	T	rs181586961		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:46763278C>T	ENST00000343304.6	-	3	599	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	105					protein ubiquitination (GO:0016567)	membrane (GO:0016020)		p.R105Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATCCCAGAGTCGGCGCCAGAT	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22808	0.0		0.0	False		,,,				2504	0.0				p.R105Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G314A	1						.	C	GLN/ARG	0,4406		0,0,2203	105.0	100.0	102.0		314	4.7	1.0	1		102	2,8598	2.2+/-6.3	0,2,4298	no	missense	LRRC41	NM_006369.4	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	105/813	46763278	2,13004	2203	4300	6503	46535865	SO:0001583	missense	10489	exon3			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.314G>A	1.37:g.46763278C>T	ENSP00000343298:p.Arg105Gln	Somatic		Capture	SOLID	Phase_I	46535865	NM_006369	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	CCDS533.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.86	2.661268	0.47572	0.0	2.33E-4	ENSG00000132128	ENST00000343304;ENST00000371972	D	0.83914	-1.78	5.8	4.7	0.59300	.	0.276485	0.26844	N	0.022216	T	0.58963	0.2159	N	0.08118	0	0.25917	N	0.983163	B;P;B	0.43314	0.44;0.803;0.44	B;B;B	0.28849	0.016;0.095;0.016	T	0.57435	-0.7812	10	0.39692	T	0.17	-2.0284	8.193	0.31379	0.0:0.8366:0.0:0.1634	.	105;83;105	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	Q	105;83	ENSP00000343298:R105Q	ENSP00000343298:R105Q	R	-	2	0	LRRC41	46535865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.969000	0.40510	2.736000	0.93811	0.591000	0.81541	CGA		0.458	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369	
LRRC41	10489	hgsc.bcm.edu	37	1	46763282	46763282	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:46763282G>A	ENST00000343304.6	-	3	595	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	104					protein ubiquitination (GO:0016567)	membrane (GO:0016020)		p.R104C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAGAGTCGGCGCCAGATGGCC	0.458																																					p.R104C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C310T	1						.						100.0	96.0	97.0					1																	46763282		2203	4300	6503	46535869	SO:0001583	missense	10489	exon3			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.310C>T	1.37:g.46763282G>A	ENSP00000343298:p.Arg104Cys	Somatic		Capture	SOLID	Phase_I	46535869	NM_006369	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	CCDS533.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903501	0.52333	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	D	0.83163	-1.69	5.8	5.8	0.92144	.	0.231528	0.38720	N	0.001595	T	0.61362	0.2341	N	0.08118	0	0.48830	D	0.999711	B;P;B	0.41929	0.027;0.765;0.027	B;B;B	0.25291	0.009;0.059;0.005	T	0.67738	-0.5593	10	0.39692	T	0.17	-20.9076	12.1877	0.54250	0.0791:0.0:0.9209:0.0	.	104;82;104	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	C	104;82	ENSP00000343298:R104C	ENSP00000343298:R104C	R	-	1	0	LRRC41	46535869	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.864000	0.48404	2.736000	0.93811	0.591000	0.81541	CGC		0.458	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369	
CC2D1B	200014	hgsc.bcm.edu	37	1	52825821	52825821	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:52825821G>A	ENST00000371586.2	-	7	826	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	CC2D1B_ENST00000284376.3_Missense_Mutation_p.R230W|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	230	Pro-rich.					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 negative regulation of transcription (GO:0001078)	p.R230W(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GCCAGGGGCCGCTTTCCTAAG	0.592																																					p.R230W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C688T	1						.						28.0	30.0	29.0					1																	52825821		2203	4300	6503	52598409	SO:0001583	missense	200014	exon7			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.688C>T	1.37:g.52825821G>A	ENSP00000360642:p.Arg230Trp	Somatic		Capture	SOLID	Phase_I	52598409	NM_032449	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096504	0.56075	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	D;D	0.86694	-2.16;-2.16	5.57	4.43	0.53597	.	0.408147	0.23983	N	0.042650	D	0.85448	0.5699	L	0.54323	1.7	0.80722	D	1	D	0.61697	0.99	P	0.46659	0.523	D	0.84819	0.0795	10	0.66056	D	0.02	-10.3249	10.1819	0.42972	0.0:0.0:0.3297:0.6703	.	230	Q5T0F9	C2D1B_HUMAN	W	230;230;144	ENSP00000360642:R230W;ENSP00000284376:R230W	ENSP00000284376:R230W	R	-	1	2	CC2D1B	52598409	0.998000	0.40836	0.949000	0.38748	0.708000	0.40852	2.257000	0.43240	0.941000	0.37499	-0.714000	0.03626	CGG		0.592	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449	
CDCP2	200008	hgsc.bcm.edu	37	1	54606878	54606878	+	Missense_Mutation	SNP	C	C	T	rs184533715		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:54606878C>T	ENST00000371330.1	-	3	1503	c.656G>A	c.(655-657)gGc>gAc	p.G219D	RP11-446E24.4_ENST00000525949.1_5'Flank|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	219	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)		p.G219D(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCTGGTGCTGCCACAGTAGTG	0.622																																					p.G219D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G656A	1						.						48.0	47.0	47.0					1																	54606878		2203	4300	6503	54379466	SO:0001583	missense	200008	exon3				CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.656G>A	1.37:g.54606878C>T	ENSP00000360381:p.Gly219Asp	Somatic		Capture	SOLID	Phase_I	54379466	NM_201546	Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	CCDS588.2	.	.	.	.	.	.	.	.	.	.	C	33	5.207209	0.95033	.	.	ENSG00000157211	ENST00000371330	T	0.64991	-0.13	5.57	5.57	0.84162	CUB (5);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86186	0.1609	10	0.87932	D	0	-30.8415	19.5469	0.95302	0.0:1.0:0.0:0.0	.	219	Q5VXM1	CDCP2_HUMAN	D	219	ENSP00000360381:G219D	ENSP00000360381:G219D	G	-	2	0	CDCP2	54379466	1.000000	0.71417	0.903000	0.35520	0.921000	0.55340	7.769000	0.85360	2.619000	0.88677	0.561000	0.74099	GGC		0.622	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546	
ANGPTL3	27329	hgsc.bcm.edu	37	1	63070414	63070414	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:63070414C>A	ENST00000371129.3	+	7	1389	c.1309C>A	c.(1309-1311)Caa>Aaa	p.Q437K	DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	437	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)	p.Q437K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						TTGGAAGTCTCAAAATGGAAG	0.353																																					p.Q437K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1309A	1						.						84.0	87.0	86.0					1																	63070414		2203	4300	6503	62843002	SO:0001583	missense	27329	exon7			AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.1309C>A	1.37:g.63070414C>A	ENSP00000360170:p.Gln437Lys	Somatic		Capture	SOLID	Phase_I	62843002	NM_014495	A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	ENST00000371129.3	37	CCDS622.1	.	.	.	.	.	.	.	.	.	.	C	0.666	-0.803962	0.02819	.	.	ENSG00000132855	ENST00000371129	T	0.76316	-1.01	5.4	4.47	0.54385	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	1.008800	0.07935	N	0.978253	T	0.48857	0.1523	N	0.25380	0.74	0.21604	N	0.999628	B	0.12630	0.006	B	0.12837	0.008	T	0.41288	-0.9517	10	0.56958	D	0.05	.	5.604	0.17369	0.1523:0.639:0.1308:0.078	.	437	Q9Y5C1	ANGL3_HUMAN	K	437	ENSP00000360170:Q437K	ENSP00000360170:Q437K	Q	+	1	0	ANGPTL3	62843002	0.972000	0.33761	0.993000	0.49108	0.724000	0.41520	0.683000	0.25349	2.680000	0.91292	0.585000	0.79938	CAA		0.353	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495	
LEPR	3953	hgsc.bcm.edu	37	1	66102053	66102053	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:66102053T>C	ENST00000349533.6	+	20	3038	c.2853T>C	c.(2851-2853)ggT>ggC	p.G951G	LEPR_ENST00000406510.3_Silent_p.G18G	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.G951G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTGAAAAGGGTTCTGTTTGTA	0.398																																					p.G951G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2853C	1						.						139.0	131.0	134.0					1																	66102053		2203	4300	6503	65874641	SO:0001819	synonymous_variant	3953	exon20			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2853T>C	1.37:g.66102053T>C		Somatic		Capture	SOLID	Phase_I	65874641	NM_002303	Q6FHL5	Silent	SNP	ENST00000349533.6	37	CCDS631.1																																																																																				0.398	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	
ERICH3	127254	hgsc.bcm.edu	37	1	75086532	75086532	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:75086532T>C	ENST00000326665.5	-	8	1104	c.886A>G	c.(886-888)Aaa>Gaa	p.K296E	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.K99E	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		296								p.K296E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCACATTTTTCCCCAAATAG	0.363																																					p.K296E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A886G	1						.						116.0	110.0	112.0					1																	75086532		2203	4300	6503	74859120	SO:0001583	missense	127254	exon8																														ENST00000326665.5:c.886A>G	1.37:g.75086532T>C	ENSP00000322609:p.Lys296Glu	Somatic		Capture	SOLID	Phase_I	74859120	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.835484	0.91117	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.22945	2.36;1.93	6.07	6.07	0.98685	.	.	.	.	.	T	0.45034	0.1322	M	0.73598	2.24	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.46721	-0.9171	9	0.66056	D	0.02	-36.8988	16.2903	0.82747	0.0:0.0:0.0:1.0	.	99;296	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	E	296;99	ENSP00000322609:K296E;ENSP00000398581:K99E	ENSP00000322609:K296E	K	-	1	0	C1orf173	74859120	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.499000	0.81566	2.326000	0.78906	0.533000	0.62120	AAA		0.363	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ACADM	34	hgsc.bcm.edu	37	1	76200514	76200514	+	Missense_Mutation	SNP	G	G	T	rs565131848		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:76200514G>T	ENST00000370841.4	+	6	863	c.426G>T	c.(424-426)aaG>aaT	p.K142N	ACADM_ENST00000420607.2_Missense_Mutation_p.K146N|ACADM_ENST00000370834.5_Missense_Mutation_p.K175N|ACADM_ENST00000543667.1_Intron|ACADM_ENST00000541113.1_Missense_Mutation_p.K106N	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	142					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)	p.K142N(1)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	ATCAACAAAAGAAGAAGTATT	0.343																																					p.K142N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G426T	1						.						96.0	91.0	93.0					1																	76200514		2203	4300	6503	75973102	SO:0001583	missense	34	exon6			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.426G>T	1.37:g.76200514G>T	ENSP00000359878:p.Lys142Asn	Somatic		Capture	SOLID	Phase_I	75973102	NM_000016	Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	CCDS668.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768646	0.31320	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21	5.63	-1.48	0.08745	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.379212	0.31884	N	0.006903	D	0.99654	0.9872	H	0.94771	3.58	0.80722	D	1	B;B;B;B;B	0.27450	0.009;0.021;0.124;0.179;0.06	B;B;B;B;B	0.39706	0.016;0.072;0.158;0.204;0.307	D	0.98421	1.0577	10	0.87932	D	0	.	12.1681	0.54141	0.5606:0.0:0.4394:0.0	.	106;56;175;146;142	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	N	142;175;106;146	ENSP00000359878:K142N;ENSP00000359871:K175N;ENSP00000442324:K106N;ENSP00000409612:K146N	ENSP00000359871:K175N	K	+	3	2	ACADM	75973102	0.994000	0.37717	0.461000	0.27105	0.431000	0.31685	0.413000	0.21148	-0.218000	0.10018	-0.345000	0.07892	AAG		0.343	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1		
LRRC8B	23507	hgsc.bcm.edu	37	1	90048505	90048505	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:90048505G>A	ENST00000330947.2	+	5	656	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	LRRC8B_ENST00000439853.1_Missense_Mutation_p.R99Q|LRRC8B_ENST00000358200.4_Missense_Mutation_p.R99Q|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	99					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R99Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GACCTCCACCGACAGCAGTAC	0.512																																					p.R99Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G296A	1						.						142.0	133.0	136.0					1																	90048505		2203	4300	6503	89821093	SO:0001583	missense	23507	exon5			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.296G>A	1.37:g.90048505G>A	ENSP00000332674:p.Arg99Gln	Somatic		Capture	SOLID	Phase_I	89821093	NM_015350	D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	CCDS724.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739831	0.49045	.	.	ENSG00000197147	ENST00000449440;ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	T;T;T	0.37411	1.2;1.2;1.2	5.09	4.16	0.48862	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.100234	0.42821	D	0.000643	T	0.16811	0.0404	L	0.43152	1.355	0.38259	D	0.941823	P	0.40681	0.727	B	0.32149	0.141	T	0.09357	-1.0678	10	0.49607	T	0.09	.	14.4382	0.67296	0.0752:0.0:0.9248:0.0	.	99	Q6P9F7	LRC8B_HUMAN	Q	99	ENSP00000332674:R99Q;ENSP00000350933:R99Q;ENSP00000400704:R99Q	ENSP00000332674:R99Q	R	+	2	0	LRRC8B	89821093	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	3.295000	0.51794	2.513000	0.84729	0.655000	0.94253	CGA		0.512	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350	
TMED5	50999	hgsc.bcm.edu	37	1	93620369	93620369	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:93620369C>T	ENST00000370282.3	-	4	1033	c.548G>A	c.(547-549)cGt>cAt	p.R183H	TMED5_ENST00000479918.1_3'UTR|TMED5_ENST00000483033.1_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	183					Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	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)		p.R183H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		GTTTCGATCACGAGCTTCAAA	0.373																																					p.R183H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G548A	1						.						167.0	150.0	156.0					1																	93620369		2203	4300	6503	93392957	SO:0001583	missense	50999	exon4			BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.548G>A	1.37:g.93620369C>T	ENSP00000359305:p.Arg183His	Somatic		Capture	SOLID	Phase_I	93392957	NM_016040	B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	ENST00000370282.3	37	CCDS743.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333397	0.95758	.	.	ENSG00000117500	ENST00000370282;ENST00000535517	T	0.20463	2.07	6.02	5.11	0.69529	GOLD (1);	0.000000	0.85682	D	0.000000	T	0.45816	0.1361	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58601	-0.7608	10	0.56958	D	0.05	-5.6911	15.4583	0.75333	0.0:0.9337:0.0:0.0663	.	183	Q9Y3A6	TMED5_HUMAN	H	183;132	ENSP00000359305:R183H	ENSP00000359305:R183H	R	-	2	0	TMED5	93392957	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.818000	0.86416	1.561000	0.49584	0.655000	0.94253	CGT		0.373	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040	
LPPR5	163404	hgsc.bcm.edu	37	1	99418749	99418749	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:99418749C>A	ENST00000263177.4	-	3	719	c.498G>T	c.(496-498)caG>caT	p.Q166H	LPPR5_ENST00000370188.3_Missense_Mutation_p.Q166H	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		166						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.Q166H(1)									ATTGTGTATACTGCTGACATC	0.468																																					p.Q166H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G498T	1						.						120.0	109.0	113.0					1																	99418749		2203	4300	6503	99191337	SO:0001583	missense	163404	exon3																														ENST00000263177.4:c.498G>T	1.37:g.99418749C>A	ENSP00000263177:p.Gln166His	Somatic		Capture	SOLID	Phase_I	99191337	NM_001037317	A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	c	13.12	2.142861	0.37825	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.42513	0.97;0.97	4.7	-0.632	0.11523	.	0.158490	0.45867	D	0.000322	T	0.32585	0.0834	L	0.34521	1.04	0.41969	D	0.990743	D;D	0.65815	0.988;0.995	P;D	0.67231	0.854;0.95	T	0.14476	-1.0471	10	0.45353	T	0.12	.	10.0054	0.41953	0.0:0.6262:0.0:0.3738	.	166;166	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	H	166	ENSP00000359207:Q166H;ENSP00000263177:Q166H	ENSP00000263177:Q166H	Q	-	3	2	AL161744.1	99191337	0.765000	0.28485	0.990000	0.47175	0.615000	0.37417	0.200000	0.17257	-0.072000	0.12864	-0.119000	0.15052	CAG		0.468	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1		
LPPR4	9890	hgsc.bcm.edu	37	1	99764662	99764662	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:99764662G>A	ENST00000370185.3	+	4	1107	c.610G>A	c.(610-612)Gca>Aca	p.A204T	LPPR4_ENST00000370184.1_Missense_Mutation_p.A46T|LPPR4_ENST00000457765.1_Missense_Mutation_p.A204T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		204					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.A204T(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)		AGGATATCAAGCACCTTACTT	0.373																																					p.A204T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G610A	1						.						166.0	155.0	158.0					1																	99764662		2203	4300	6503	99537250	SO:0001583	missense	9890	exon4																														ENST00000370185.3:c.610G>A	1.37:g.99764662G>A	ENSP00000359204:p.Ala204Thr	Somatic		Capture	SOLID	Phase_I	99537250	NM_014839	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.448212	0.26074	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.74947	-0.89;-0.89;-0.89	5.41	5.41	0.78517	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.118706	0.64402	D	0.000008	T	0.37156	0.0993	N	0.12182	0.205	0.49915	D	0.999831	B;B	0.14805	0.011;0.009	B;B	0.26969	0.022;0.075	T	0.31194	-0.9952	10	0.09338	T	0.73	-22.1486	10.1216	0.42623	0.1485:0.0:0.8515:0.0	.	204;204	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	T	204;204;204;46	ENSP00000359204:A204T;ENSP00000394913:A204T;ENSP00000359203:A46T	ENSP00000263178:A204T	A	+	1	0	RP4-788L13.1	99537250	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	3.323000	0.52014	2.712000	0.92718	0.650000	0.86243	GCA		0.373	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		
PALMD	54873	hgsc.bcm.edu	37	1	100154901	100154901	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:100154901C>T	ENST00000263174.4	+	7	1460	c.1085C>T	c.(1084-1086)gCa>gTa	p.A362V	PALMD_ENST00000605497.1_Missense_Mutation_p.A362V	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	362					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.A362V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GACAAAGATGCACCCTCTCCA	0.488																																					p.A362V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1085T	1						.						56.0	51.0	53.0					1																	100154901		2203	4300	6503	99927489	SO:0001583	missense	54873	exon7			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1085C>T	1.37:g.100154901C>T	ENSP00000263174:p.Ala362Val	Somatic		Capture	SOLID	Phase_I	99927489	NM_017734	Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	CCDS758.1	.	.	.	.	.	.	.	.	.	.	C	0.293	-0.979024	0.02197	.	.	ENSG00000099260	ENST00000263174	T	0.17528	2.27	5.93	-2.02	0.07388	.	1.480890	0.03520	N	0.220875	T	0.02494	0.0076	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.003	T	0.32693	-0.9897	10	0.09590	T	0.72	0.0384	5.7747	0.18273	0.2394:0.3604:0.0:0.4002	.	362;282	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	V	362	ENSP00000263174:A362V	ENSP00000263174:A362V	A	+	2	0	PALMD	99927489	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.394000	0.20834	-0.216000	0.10048	0.563000	0.77884	GCA		0.488	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734	
HNRNPU	3192	hgsc.bcm.edu	37	1	245023692	245023692	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr1:245023692G>A	ENST00000283179.9	-	4	1125	c.962C>T	c.(961-963)gCt>gTt	p.A321V	HNRNPU_ENST00000444376.2_Missense_Mutation_p.A302V			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	321	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A302V(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TCTTCCTCCAGCCCAAAGAAA	0.353																																					p.A302V	NSCLC(33;911 1010 3329 23631 49995)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C905T	1						.						124.0	114.0	117.0					1																	245023692		2203	4300	6503	243090315	SO:0001583	missense	3192	exon4			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.962C>T	1.37:g.245023692G>A	ENSP00000283179:p.Ala321Val	Somatic		Capture	SOLID	Phase_I	243090315	NM_004501	O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860168	0.91433	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	T;T;T	0.74209	-0.82;-0.82;-0.82	5.91	4.98	0.66077	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.050662	0.85682	D	0.000000	D	0.84252	0.5431	M	0.81497	2.545	0.80722	D	1	P;D;P;D	0.60575	0.895;0.97;0.949;0.988	B;P;P;P	0.56700	0.354;0.804;0.642;0.76	D	0.86687	0.1920	10	0.62326	D	0.03	-11.0956	16.9987	0.86376	0.0:0.1275:0.8725:0.0	.	246;302;321;45	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	V	302;321;246;98	ENSP00000393151:A302V;ENSP00000283179:A321V;ENSP00000410728:A98V	ENSP00000283179:A321V	A	-	2	0	HNRNPU	243090315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	1.466000	0.48025	0.655000	0.94253	GCT		0.353	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844	
PCSK7	9159	hgsc.bcm.edu	37	11	117076927	117076927	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:117076927T>G	ENST00000320934.3	-	17	2774	c.2144A>C	c.(2143-2145)gAg>gCg	p.E715A	PCSK7_ENST00000540028.1_3'UTR|PCSK7_ENST00000529458.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	715					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.E715A(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGTCCCTTCCTCCTTGGCTTT	0.547			T	IGH@	MLCLS																																p.E715A			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2144C	11						.						94.0	80.0	84.0					11																	117076927		2201	4296	6497	116582137	SO:0001583	missense	9159	exon17			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.2144A>C	11.37:g.117076927T>G	ENSP00000325917:p.Glu715Ala	Somatic		Capture	SOLID	Phase_I	116582137	NM_004716	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173282	0.57584	.	.	ENSG00000160613	ENST00000320934	T	0.62364	0.03	4.85	4.85	0.62838	.	0.100265	0.41194	D	0.000940	T	0.56688	0.2002	M	0.64997	1.995	0.80722	D	1	P	0.39665	0.682	B	0.37731	0.257	T	0.55121	-0.8190	10	0.14656	T	0.56	-22.3519	13.405	0.60908	0.0:0.0:0.0:1.0	.	715	Q16549	PCSK7_HUMAN	A	715	ENSP00000325917:E715A	ENSP00000325917:E715A	E	-	2	0	PCSK7	116582137	0.981000	0.34729	0.982000	0.44146	0.938000	0.57974	2.995000	0.49441	2.028000	0.59812	0.533000	0.62120	GAG		0.547	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716	
MPZL2	10205	hgsc.bcm.edu	37	11	118133202	118133202	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:118133202A>G	ENST00000278937.2	-	3	515	c.387T>C	c.(385-387)ccT>ccC	p.P129P	MPZL2_ENST00000525647.1_5'Flank|MPZL2_ENST00000438295.2_Silent_p.P129P	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	129	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P129P(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CATCAACATCAGGTGGGTTCT	0.527																																					p.P129P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T387C	11						.						158.0	116.0	130.0					11																	118133202		2200	4296	6496	117638412	SO:0001819	synonymous_variant	10205	exon3			AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.387T>C	11.37:g.118133202A>G		Somatic		Capture	SOLID	Phase_I	117638412	NM_144765	A8K2R1	Silent	SNP	ENST00000278937.2	37	CCDS8393.1																																																																																				0.527	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797	
MPZL2	10205	hgsc.bcm.edu	37	11	118133246	118133246	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:118133246A>G	ENST00000278937.2	-	3	471	c.343T>C	c.(343-345)Ttc>Ctc	p.F115L	MPZL2_ENST00000525647.1_5'Flank|MPZL2_ENST00000438295.2_Missense_Mutation_p.F115L	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	115	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F115L(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TTGTCGTCGAACTGCAGTTTC	0.557																																					p.F115L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T343C	11						.						158.0	115.0	130.0					11																	118133246		2200	4296	6496	117638456	SO:0001583	missense	10205	exon3			AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.343T>C	11.37:g.118133246A>G	ENSP00000278937:p.Phe115Leu	Somatic		Capture	SOLID	Phase_I	117638456	NM_144765	A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	CCDS8393.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.751423	0.89753	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	T;T	0.62105	0.05;0.05	5.98	4.85	0.62838	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.227418	0.53938	D	0.000052	T	0.61949	0.2388	L	0.35644	1.08	0.40841	D	0.983675	D	0.63046	0.992	D	0.65443	0.935	T	0.61352	-0.7080	10	0.06757	T	0.87	.	8.2575	0.31765	0.8081:0.0:0.1919:0.0	.	115	O60487	MPZL2_HUMAN	L	115	ENSP00000278937:F115L;ENSP00000408362:F115L	ENSP00000278937:F115L	F	-	1	0	MPZL2	117638456	1.000000	0.71417	0.998000	0.56505	0.848000	0.48234	5.655000	0.67981	1.076000	0.40961	0.528000	0.53228	TTC		0.557	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797	
STT3A	3703	hgsc.bcm.edu	37	11	125484067	125484067	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:125484067G>A	ENST00000529196.1	+	15	1846	c.1640G>A	c.(1639-1641)tGg>tAg	p.W547*	STT3A_ENST00000392708.4_Nonsense_Mutation_p.W547*|STT3A_ENST00000531491.1_Nonsense_Mutation_p.W455*			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	547					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.W547*(1)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		AATAACACATGGAATAATACC	0.423																																					p.W547X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1640A	11						.						214.0	201.0	205.0					11																	125484067		2201	4299	6500	124989277	SO:0001587	stop_gained	3703	exon14			BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1640G>A	11.37:g.125484067G>A	ENSP00000436962:p.Trp547*	Somatic		Capture	SOLID	Phase_I	124989277	NM_152713	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Nonsense_Mutation	SNP	ENST00000529196.1	37	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	G	41	8.710666	0.98925	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4562	19.984	0.97341	0.0:0.0:1.0:0.0	.	.	.	.	X	547;547;455	.	ENSP00000376472:W547X	W	+	2	0	STT3A	124989277	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	TGG		0.423	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713	
PATE2	399967	hgsc.bcm.edu	37	11	125647872	125647872	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:125647872A>T	ENST00000358524.3	-	3	147	c.102T>A	c.(100-102)tgT>tgA	p.C34*	PATE2_ENST00000436890.2_Intron	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	34						extracellular space (GO:0005615)		p.C34*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						GATATTTTTTACATTCATAAC	0.423																																					p.C34X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T102A	11						.						126.0	115.0	119.0					11																	125647872		2201	4299	6500	125153082	SO:0001587	stop_gained	399967	exon3			AY358105	CCDS8465.1	11q24.2	2008-12-17	2008-12-17	2008-12-17		ENSG00000196844		"""PATE family"""	32249	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 38"""	C11orf38			Standard	NM_212555		Approved	UNQ3112, LVLF3112, PATE-M	uc001qcu.3	Q6UY27		ENST00000358524.3:c.102T>A	11.37:g.125647872A>T	ENSP00000351325:p.Cys34*	Somatic		Capture	SOLID	Phase_I	125153082	NM_212555	B2RNZ2|B7ZMG4	Nonsense_Mutation	SNP	ENST00000358524.3	37	CCDS8465.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.001994	0.74932	.	.	ENSG00000196844	ENST00000358524	.	.	.	5.05	3.92	0.45320	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3457	7.4837	0.27419	0.904:0.0:0.096:0.0	.	.	.	.	X	34	.	ENSP00000351325:C34X	C	-	3	2	PATE2	125153082	0.809000	0.29036	0.728000	0.30774	0.269000	0.26545	1.252000	0.32874	1.064000	0.40671	0.482000	0.46254	TGT		0.423	PATE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386729.1	NM_212555	
CDON	50937	hgsc.bcm.edu	37	11	125851075	125851075	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:125851075G>T	ENST00000392693.3	-	17	3272	c.3145C>A	c.(3145-3147)Ctt>Att	p.L1049I	CDON_ENST00000531738.1_Missense_Mutation_p.L426I|CDON_ENST00000263577.7_Missense_Mutation_p.L1049I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1049					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1049I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTATGGTGAAGGTGGGAATAG	0.507																																					p.L1049I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3145A	11						.						96.0	88.0	91.0					11																	125851075		2201	4299	6500	125356285	SO:0001583	missense	50937	exon17			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3145C>A	11.37:g.125851075G>T	ENSP00000376458:p.Leu1049Ile	Somatic		Capture	SOLID	Phase_I	125356285	NM_016952	O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	9.470	1.095467	0.20471	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.71579	-0.55;0.13;-0.58	5.49	3.62	0.41486	.	0.170047	0.27946	N	0.017206	T	0.65133	0.2662	M	0.67953	2.075	0.32246	N	0.572065	P;P;B	0.47302	0.829;0.893;0.256	B;B;B	0.42653	0.221;0.394;0.063	T	0.70153	-0.4950	10	0.45353	T	0.12	-7.6079	5.5254	0.16955	0.0728:0.2595:0.534:0.1337	.	1049;1049;426	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	I	1049;426;1049	ENSP00000376458:L1049I;ENSP00000432901:L426I;ENSP00000263577:L1049I	ENSP00000263577:L1049I	L	-	1	0	CDON	125356285	0.974000	0.33945	0.151000	0.22473	0.063000	0.16089	2.237000	0.43061	0.666000	0.31087	0.643000	0.83706	CTT		0.507	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
CDON	50937	hgsc.bcm.edu	37	11	125864216	125864216	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:125864216A>G	ENST00000392693.3	-	14	2740	c.2613T>C	c.(2611-2613)agT>agC	p.S871S	CDON_ENST00000531738.1_Silent_p.S248S|CDON_ENST00000263577.7_Silent_p.S871S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	871	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S871S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTCATTGTCACTATCTGTTG	0.393																																					p.S871S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2613C	11						.						126.0	112.0	117.0					11																	125864216		2201	4299	6500	125369426	SO:0001819	synonymous_variant	50937	exon14			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2613T>C	11.37:g.125864216A>G		Somatic		Capture	SOLID	Phase_I	125369426	NM_016952	O14631	Silent	SNP	ENST00000392693.3	37	CCDS58192.1																																																																																				0.393	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
ST3GAL4	6484	hgsc.bcm.edu	37	11	126278085	126278085	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:126278085A>G	ENST00000526727.1	+	6	807	c.433A>G	c.(433-435)Atc>Gtc	p.I145V	ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.I141V|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.I145V|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.I141V|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.I151V|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.I134V|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.I144V|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.I140V|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.I145V|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.I145V			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	145					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)	p.I141V(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CGATGTGGTCATCAGGTGTGT	0.587																																					p.I141V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A421G	11						.						164.0	167.0	166.0					11																	126278085		2201	4298	6499	125783295	SO:0001583	missense	6484	exon7			X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.433A>G	11.37:g.126278085A>G	ENSP00000436047:p.Ile145Val	Somatic		Capture	SOLID	Phase_I	125783295	NM_006278	A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577100	0.45902	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000528858;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.3	5.3	0.74995	.	.	.	.	.	T	0.55705	0.1937	M	0.64630	1.985	0.58432	D	0.999995	D;D	0.64830	0.994;0.994	D;D	0.65573	0.936;0.936	T	0.55509	-0.8130	9	0.45353	T	0.12	.	15.545	0.76090	1.0:0.0:0.0:0.0	.	141;145	Q6IBE6;Q11206	.;SIA4C_HUMAN	V	141;145;151;141;145;145;145;145;134;144;140	ENSP00000227495:I141V;ENSP00000394354:I145V;ENSP00000348451:I151V;ENSP00000433989:I141V;ENSP00000433318:I145V;ENSP00000432424:I145V;ENSP00000376437:I145V;ENSP00000436047:I145V;ENSP00000399444:I134V;ENSP00000434349:I144V;ENSP00000434668:I140V	ENSP00000227495:I141V	I	+	1	0	ST3GAL4	125783295	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	6.434000	0.73408	2.128000	0.65567	0.459000	0.35465	ATC		0.587	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278	
ARHGAP32	9743	hgsc.bcm.edu	37	11	128839689	128839689	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:128839689G>A	ENST00000310343.9	-	22	5376	c.5377C>T	c.(5377-5379)Cgt>Tgt	p.R1793C	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1444C|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1444C	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1793	Interaction with FYN.				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.R1444C(1)|p.R1793C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GATTTACTACGCAGATGGATG	0.562																																					p.R1444C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4330T	11						.						96.0	93.0	94.0					11																	128839689		2201	4297	6498	128344899	SO:0001583	missense	9743	exon13			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.5377C>T	11.37:g.128839689G>A	ENSP00000310561:p.Arg1793Cys	Somatic		Capture	SOLID	Phase_I	128344899	NM_014715	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655237	0.67472	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.35048	1.42;1.33;1.33	5.87	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	M	0.70275	2.135	0.58432	D	0.999996	D	0.89917	1.0	D	0.64506	0.926	T	0.59516	-0.7440	10	0.87932	D	0	.	11.3934	0.49827	0.0657:0.0:0.8084:0.1259	.	1793	A7KAX9	RHG32_HUMAN	C	1793;1444;1444	ENSP00000310561:R1793C;ENSP00000376425:R1444C;ENSP00000432862:R1444C	ENSP00000310561:R1793C	R	-	1	0	ARHGAP32	128344899	1.000000	0.71417	0.536000	0.28039	0.948000	0.59901	7.624000	0.83124	1.487000	0.48415	0.655000	0.94253	CGT		0.562	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
PRDM10	56980	hgsc.bcm.edu	37	11	129814729	129814729	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:129814729A>G	ENST00000360871.3	-	6	930	c.699T>C	c.(697-699)ttT>ttC	p.F233F	PRDM10_ENST00000304538.6_Silent_p.F147F|PRDM10_ENST00000528746.1_Silent_p.F207F|PRDM10_ENST00000526082.1_Silent_p.F147F|PRDM10_ENST00000358825.5_Silent_p.F233F|PRDM10_ENST00000423662.2_Silent_p.F147F	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	233	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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.F233F(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)		CCACGGGGCCAAACTGGGTGC	0.592																																					p.F233F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T699C	11						.						57.0	61.0	60.0					11																	129814729		2201	4297	6498	129319939	SO:0001819	synonymous_variant	56980	exon6			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.699T>C	11.37:g.129814729A>G		Somatic		Capture	SOLID	Phase_I	129319939	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	CCDS8484.1																																																																																				0.592	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	
RNH1	6050	hgsc.bcm.edu	37	11	499072	499072	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:499072C>T	ENST00000534797.1	-	4	1964	c.557G>A	c.(556-558)gGc>gAc	p.G186D	RNH1_ENST00000356187.5_Missense_Mutation_p.G186D|RNH1_ENST00000533592.1_5'Flank|RNH1_ENST00000397604.3_Missense_Mutation_p.G186D|RNH1_ENST00000438658.2_Missense_Mutation_p.G186D|RNH1_ENST00000533410.1_Missense_Mutation_p.G186D|RNH1_ENST00000397615.2_Missense_Mutation_p.G186D|RNH1_ENST00000397614.1_Missense_Mutation_p.G186D|RNH1_ENST00000354420.2_Missense_Mutation_p.G186D			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.G186D(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACACGGACGCCAGCCTCATT	0.672																																					p.G186D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557A	11						.						65.0	50.0	55.0					11																	499072		2203	4300	6503	489072	SO:0001583	missense	6050	exon5				CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.557G>A	11.37:g.499072C>T	ENSP00000433999:p.Gly186Asp	Somatic		Capture	SOLID	Phase_I	489072	NM_203384	B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000534797.1	37	CCDS7697.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064947	0.55432	.	.	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187;ENST00000527485;ENST00000529368;ENST00000529306	T;T;T;T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	3.7	2.78	0.32641	.	0.276513	0.25692	N	0.028932	T	0.80003	0.4544	M	0.90425	3.115	0.20703	N	0.999869	D	0.89917	1.0	D	0.91635	0.999	T	0.70117	-0.4960	10	0.49607	T	0.09	.	10.3652	0.44019	0.0:0.8993:0.0:0.1006	.	186	P13489	RINI_HUMAN	D	186	ENSP00000433999:G186D;ENSP00000380738:G186D;ENSP00000380739:G186D;ENSP00000380729:G186D;ENSP00000435594:G186D;ENSP00000416589:G186D;ENSP00000346402:G186D;ENSP00000348515:G186D;ENSP00000435748:G186D;ENSP00000435057:G186D;ENSP00000434947:G186D	ENSP00000346402:G186D	G	-	2	0	RNH1	489072	0.017000	0.18338	0.006000	0.13384	0.027000	0.11550	0.552000	0.23376	0.913000	0.36797	0.478000	0.44815	GGC		0.672	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	NM_203389	
TALDO1	6888	hgsc.bcm.edu	37	11	759053	759053	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:759053G>A	ENST00000319006.3	+	3	478	c.325G>A	c.(325-327)Gca>Aca	p.A109T	TALDO1_ENST00000528097.1_Missense_Mutation_p.A109T			P37837	TALDO_HUMAN	transaldolase 1	109					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)	p.A109T(1)		breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		AGAAGTAGACGCAAGGTAAGG	0.483																																					p.A109T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G325A	11						.						97.0	101.0	100.0					11																	759053		2203	4300	6503	749053	SO:0001583	missense	6888	exon3				CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.325G>A	11.37:g.759053G>A	ENSP00000321259:p.Ala109Thr	Somatic		Capture	SOLID	Phase_I	749053	NM_006755	B2R8M2|O00751|Q8WV32|Q8WZ45	Missense_Mutation	SNP	ENST00000319006.3	37	CCDS7712.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155363	0.78114	.	.	ENSG00000177156	ENST00000319006;ENST00000528097	D;D	0.87571	-2.27;-2.27	4.76	3.84	0.44239	Aldolase-type TIM barrel (1);	0.051800	0.85682	D	0.000000	D	0.95414	0.8511	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.983	D	0.96374	0.9276	10	0.87932	D	0	-21.975	13.5416	0.61676	0.0:0.0:0.8426:0.1574	.	109;109	F2Z393;P37837	.;TALDO_HUMAN	T	109	ENSP00000321259:A109T;ENSP00000437098:A109T	ENSP00000321259:A109T	A	+	1	0	TALDO1	749053	1.000000	0.71417	0.008000	0.14137	0.031000	0.12232	8.461000	0.90372	1.109000	0.41680	0.561000	0.74099	GCA		0.483	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755	
KCNQ1	3784	hgsc.bcm.edu	37	11	2790124	2790124	+	Missense_Mutation	SNP	A	A	G	rs199472789		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:2790124A>G	ENST00000155840.5	+	12	1673	c.1565A>G	c.(1564-1566)tAc>tGc	p.Y522C	KCNQ1_ENST00000335475.5_Missense_Mutation_p.Y395C	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	522					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.Y522C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CGCATGCAGTACTTTGTGGCC	0.597																																					p.Y395C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1184G	11						.						210.0	155.0	174.0					11																	2790124		2202	4299	6501	2746700	SO:0001583	missense	3784	exon12			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1565A>G	11.37:g.2790124A>G	ENSP00000155840:p.Tyr522Cys	Somatic		Capture	SOLID	Phase_I	2746700	NM_181798	O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920179	0.73098	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99801	-6.81;-6.81	4.26	4.26	0.50523	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.197812	0.34531	N	0.003891	D	0.99674	0.9878	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.987;0.992;0.984	D	0.97578	1.0109	10	0.87932	D	0	-23.4156	11.659	0.51334	1.0:0.0:0.0:0.0	.	395;395;522	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	C	522;395	ENSP00000155840:Y522C;ENSP00000334497:Y395C	ENSP00000155840:Y522C	Y	+	2	0	KCNQ1	2746700	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.566000	0.73978	1.710000	0.51325	0.454000	0.30748	TAC		0.597	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218	
OR52A5	390054	hgsc.bcm.edu	37	11	5153221	5153221	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:5153221T>C	ENST00000307388.1	-	1	651	c.652A>G	c.(652-654)Acc>Gcc	p.T218A		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	218					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.T218A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAGGACAAGGTTATAAATATT	0.418																																					p.T218A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A652G	11						.						87.0	85.0	86.0					11																	5153221		2201	4298	6499	5109797	SO:0001583	missense	390054	exon1			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.652A>G	11.37:g.5153221T>C	ENSP00000303469:p.Thr218Ala	Somatic		Capture	SOLID	Phase_I	5109797	NM_001005160		Missense_Mutation	SNP	ENST00000307388.1	37	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.697420	0.00725	.	.	ENSG00000171944	ENST00000307388	T	0.00054	8.8	4.94	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000136	T	0.00073	0.0002	N	0.12569	0.235	0.09310	N	1	B	0.20052	0.041	B	0.25405	0.06	T	0.29731	-1.0002	10	0.02654	T	1	.	6.3519	0.21381	0.0:0.0906:0.173:0.7363	.	218	Q9H2C5	O52A5_HUMAN	A	218	ENSP00000303469:T218A	ENSP00000303469:T218A	T	-	1	0	OR52A5	5109797	0.000000	0.05858	0.914000	0.36105	0.003000	0.03518	-0.793000	0.04589	2.059000	0.61396	0.460000	0.39030	ACC		0.418	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160	
UBQLN3	50613	hgsc.bcm.edu	37	11	5530754	5530754	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:5530754C>G	ENST00000311659.4	-	2	182	c.35G>C	c.(34-36)aGc>aCc	p.S12T	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	12								p.S12T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTGCTGGGCTGCCCTGTGG	0.577																																					p.S12T	Ovarian(72;684 1260 12332 41642 52180)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G35C	11						.						71.0	66.0	68.0					11																	5530754		2201	4297	6498	5487330	SO:0001583	missense	50613	exon2			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.35G>C	11.37:g.5530754C>G	ENSP00000347997:p.Ser12Thr	Somatic		Capture	SOLID	Phase_I	5487330	NM_017481	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	6.511	0.462481	0.12342	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.51574	1.27;0.7	4.85	-0.00992	0.13998	.	0.942733	0.08870	N	0.881663	T	0.34250	0.0891	L	0.47716	1.5	0.23043	N	0.998383	B	0.06786	0.001	B	0.08055	0.003	T	0.26573	-1.0099	10	0.19590	T	0.45	-10.2035	3.9442	0.09341	0.0:0.4347:0.1759:0.3893	.	12	Q9H347	UBQL3_HUMAN	T	12	ENSP00000347997:S12T;ENSP00000412561:S12T	ENSP00000347997:S12T	S	-	2	0	UBQLN3	5487330	0.007000	0.16637	0.935000	0.37517	0.913000	0.54294	-0.647000	0.05397	-0.090000	0.12462	-0.479000	0.04858	AGC		0.577	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
SCUBE2	57758	hgsc.bcm.edu	37	11	9069637	9069637	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:9069637T>C	ENST00000309263.3	-	14	1633	c.1561A>G	c.(1561-1563)Agc>Ggc	p.S521G	SCUBE2_ENST00000520467.1_Missense_Mutation_p.S550G|SCUBE2_ENST00000457346.2_Missense_Mutation_p.S550G|SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	521						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.S521G(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTTACTGAGCTGTGCTTCTCT	0.458																																					p.S550G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1648G	11						.						141.0	147.0	145.0					11																	9069637		2201	4296	6497	9026213	SO:0001583	missense	57758	exon15			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1561A>G	11.37:g.9069637T>C	ENSP00000310658:p.Ser521Gly	Somatic		Capture	SOLID	Phase_I	9026213	NM_020974	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		.	.	.	.	.	.	.	.	.	.	T	11.18	1.563207	0.27915	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000520467	T;T;T	0.80824	-1.25;-1.37;-1.42	5.01	5.01	0.66863	.	0.286363	0.42420	D	0.000720	T	0.71375	0.3332	.	.	.	0.40342	D	0.979049	B;B	0.17038	0.0;0.02	B;B	0.15484	0.002;0.013	T	0.66850	-0.5819	9	0.21540	T	0.41	.	15.0274	0.71680	0.0:0.0:0.0:1.0	.	550;521	Q9NQ36-2;Q9NQ36	.;SCUB2_HUMAN	G	550;521;550	ENSP00000390481:S550G;ENSP00000310658:S521G;ENSP00000429969:S550G	ENSP00000310658:S521G	S	-	1	0	SCUBE2	9026213	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.162000	0.71874	2.016000	0.59253	0.533000	0.62120	AGC		0.458	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
PSMA1	5682	hgsc.bcm.edu	37	11	14539218	14539218	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:14539218G>A	ENST00000396394.2	-	4	620	c.224C>T	c.(223-225)gCg>gTg	p.A75V	PSMA1_ENST00000396393.1_Missense_Mutation_p.A75V|PSMA1_ENST00000419365.2_Missense_Mutation_p.A75V|PSMA1_ENST00000530457.1_Missense_Mutation_p.A50V|PSMA1_ENST00000418988.2_Missense_Mutation_p.A81V|PSMA1_ENST00000555531.1_Missense_Mutation_p.A75V	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	75					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)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)	p.A75V(1)		large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AGTAAGCCCCGCAATTGAGAT	0.343																																					p.A81V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C242T	11						.						114.0	113.0	113.0					11																	14539218		2200	4294	6494	14495794	SO:0001583	missense	5682	exon5			X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.224C>T	11.37:g.14539218G>A	ENSP00000379676:p.Ala75Val	Somatic		Capture	SOLID	Phase_I	14495794	NM_148976	A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	CCDS7816.1	.	.	.	.	.	.	.	.	.	.	G	35	5.568687	0.96540	.	.	ENSG00000129084	ENST00000419365;ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.67548	0.46;0.94;0.952	T	0.77996	-0.2377	10	0.72032	D	0.01	-2.569	17.888	0.88863	0.0:0.0:1.0:0.0	.	75;81;75	B4E0X6;P25786-2;P25786	.;.;PSA1_HUMAN	V	75;75;75;50;81	ENSP00000392242:A75V;ENSP00000379676:A75V;ENSP00000379675:A75V;ENSP00000441166:A50V;ENSP00000414359:A81V	ENSP00000379675:A75V	A	-	2	0	PSMA1	14495794	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.044000	0.93805	2.643000	0.89663	0.655000	0.94253	GCG		0.343	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786	
LDHA	3939	hgsc.bcm.edu	37	11	18428671	18428671	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:18428671A>G	ENST00000422447.3	+	8	1115	c.842A>G	c.(841-843)tAc>tGc	p.Y281C	AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000430553.2_Missense_Mutation_p.Y223C|LDHA_ENST00000396222.2_Intron|LDHA_ENST00000227157.4_Missense_Mutation_p.T240A|LDHA_ENST00000540430.1_Missense_Mutation_p.Y310C|LDHA_ENST00000542179.1_Missense_Mutation_p.Y281C|LDHA_ENST00000379412.5_Missense_Mutation_p.Y281C	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	281					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)	p.Y281C(1)		central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						CAGGGTCTTTACGGAATAAAG	0.383																																					p.Y223C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A668G	11						.						40.0	37.0	38.0					11																	18428671		2199	4293	6492	18385247	SO:0001583	missense	3939	exon7			X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.842A>G	11.37:g.18428671A>G	ENSP00000395337:p.Tyr281Cys	Somatic		Capture	SOLID	Phase_I	18385247	NM_001135239	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	CCDS7839.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.41|16.41	3.114424|3.114424	0.56505|0.56505	.|.	.|.	ENSG00000134333|ENSG00000134333	ENST00000227157|ENST00000422447;ENST00000430553;ENST00000541620;ENST00000445376;ENST00000540430;ENST00000379412;ENST00000542179	T|T;T;T;T;T	0.80994|0.70164	-1.44|-0.46;-0.46;-0.46;-0.46;-0.46	4.88|4.88	4.88|4.88	0.63580|0.63580	.|Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	.|0.067515	.|0.64402	.|D	.|0.000013	T|T	0.65176|0.65176	0.2666|0.2666	.|.	.|.	.|.	0.49915|0.49915	D|D	0.999837|0.999837	B|P;B;B;B	0.13594|0.42973	0.008|0.796;0.125;0.447;0.325	B|B;B;B;B	0.21360|0.42214	0.034|0.38;0.337;0.333;0.233	T|T	0.70342|0.70342	-0.4898|-0.4898	8|9	0.87932|0.62326	D|D	0|0.03	-5.9271|-5.9271	14.8283|14.8283	0.70130|0.70130	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	240|310;223;254;281	F8W819|B7Z5E3;B4DKQ2;B4DJI1;P00338	.|.;.;.;LDHA_HUMAN	A|C	240|281;223;253;254;310;281;281	ENSP00000227157:T240A|ENSP00000395337:Y281C;ENSP00000406172:Y223C;ENSP00000445175:Y310C;ENSP00000368722:Y281C;ENSP00000445331:Y281C	ENSP00000227157:T240A|ENSP00000368722:Y281C	T|Y	+|+	1|2	0|0	LDHA|LDHA	18385247|18385247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.814000|0.814000	0.46013|0.46013	9.174000|9.174000	0.94824|0.94824	1.968000|1.968000	0.57251|0.57251	0.374000|0.374000	0.22700|0.22700	ACG|TAC		0.383	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566	
ANO3	63982	hgsc.bcm.edu	37	11	26465315	26465315	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:26465315A>T	ENST00000256737.3	+	3	1097	c.245A>T	c.(244-246)aAt>aTt	p.N82I	ANO3_ENST00000537978.1_Missense_Mutation_p.N66I|ANO3_ENST00000531646.1_Missense_Mutation_p.N82I|ANO3_ENST00000525139.1_Missense_Mutation_p.N66I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	82					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.N82I(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATTTCAGTTAATACTGAGGAG	0.333																																					p.N82I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A245T	11						.						91.0	90.0	91.0					11																	26465315		2203	4300	6503	26421891	SO:0001583	missense	63982	exon3			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.245A>T	11.37:g.26465315A>T	ENSP00000256737:p.Asn82Ile	Somatic		Capture	SOLID	Phase_I	26421891	NM_031418	B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	A	7.213	0.595752	0.13875	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.72	2.27	0.28462	.	0.576425	0.17830	N	0.160563	T	0.42291	0.1196	N	0.22421	0.69	0.20196	N	0.999925	B	0.13594	0.008	B	0.10450	0.005	T	0.23226	-1.0194	10	0.37606	T	0.19	.	5.2851	0.15696	0.7145:0.1867:0.0988:0.0	.	82	Q9BYT9	ANO3_HUMAN	I	66;66;82;82	ENSP00000440737:N66I;ENSP00000432576:N66I;ENSP00000256737:N82I;ENSP00000435275:N82I	ENSP00000256737:N82I	N	+	2	0	ANO3	26421891	0.812000	0.29077	0.386000	0.26170	0.077000	0.17291	1.349000	0.33998	0.331000	0.23511	0.482000	0.46254	AAT		0.333	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	
CSTF3	1479	hgsc.bcm.edu	37	11	33120637	33120637	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:33120637T>C	ENST00000323959.4	-	12	1135	c.996A>G	c.(994-996)atA>atG	p.I332M	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	332					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.I332M(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATAAAGTGCTTATGGCTCTTT	0.264																																					p.I332M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A996G	11						.						57.0	64.0	62.0					11																	33120637		2198	4293	6491	33077213	SO:0001583	missense	1479	exon12			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.996A>G	11.37:g.33120637T>C	ENSP00000315791:p.Ile332Met	Somatic		Capture	SOLID	Phase_I	33077213	NM_001326	A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713889	0.68730	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.37411	1.2	5.37	1.53	0.23141	Tetratricopeptide-like helical (1);	0.213542	0.47455	D	0.000236	T	0.43055	0.1230	M	0.73319	2.225	0.80722	D	1	P	0.39940	0.696	P	0.48114	0.567	T	0.38045	-0.9679	10	0.56958	D	0.05	.	7.6814	0.28515	0.1233:0.0:0.5178:0.3589	.	332	Q12996	CSTF3_HUMAN	M	332;265	ENSP00000315791:I332M	ENSP00000315791:I332M	I	-	3	3	CSTF3	33077213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.577000	0.36515	0.843000	0.35070	0.528000	0.53228	ATA		0.264	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326	
CD82	3732	hgsc.bcm.edu	37	11	44626696	44626696	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:44626696C>T	ENST00000227155.4	+	5	473	c.225C>T	c.(223-225)atC>atT	p.I75I	RP11-58K22.4_ENST00000532524.1_RNA|CD82_ENST00000530931.1_3'UTR|RP11-58K22.5_ENST00000533814.1_RNA|CD82_ENST00000342935.3_Silent_p.I75I	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	75						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.I75I(1)		large_intestine(1)|ovary(1)	2						TGGGCTGCATCGGCGCCGTCA	0.632																																					p.I75I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C225T	11						.						73.0	70.0	71.0					11																	44626696		2203	4299	6502	44583272	SO:0001819	synonymous_variant	3732	exon5			U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.225C>T	11.37:g.44626696C>T		Somatic		Capture	SOLID	Phase_I	44583272	NM_001024844	D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Silent	SNP	ENST00000227155.4	37	CCDS7909.1																																																																																				0.632	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1		
TSPAN18	90139	hgsc.bcm.edu	37	11	44948265	44948265	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:44948265T>A	ENST00000520358.2	+	9	1071	c.656T>A	c.(655-657)gTc>gAc	p.V219D	TSPAN18_ENST00000340160.3_Missense_Mutation_p.V219D			Q96SJ8	TSN18_HUMAN	tetraspanin 18	219						integral component of membrane (GO:0016021)		p.V219D(1)		endometrium(1)|large_intestine(6)|lung(3)	10						GAGACCTACGTCTACTTGGCC	0.592											OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V219D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T656A	11						.						212.0	184.0	194.0					11																	44948265		2203	4299	6502	44904841	SO:0001583	missense	90139	exon8			AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"""Tetraspanins"""	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.656T>A	11.37:g.44948265T>A	ENSP00000429993:p.Val219Asp	Somatic	927	Capture	SOLID	Phase_I	44904841	NM_130783	Q6UY44|Q8NBI9	Missense_Mutation	SNP	ENST00000520358.2	37	CCDS7910.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360565	0.61403	.	.	ENSG00000157570	ENST00000520358;ENST00000340160	T;T	0.79749	-1.3;-1.3	4.54	4.54	0.55810	Tetraspanin, EC2 domain (1);	0.186256	0.47455	D	0.000228	D	0.87669	0.6235	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.69654	0.965;0.936	D	0.89027	0.3439	10	0.87932	D	0	.	12.9081	0.58164	0.0:0.0:0.0:1.0	.	219;219	Q8WUV1;Q96SJ8	.;TSN18_HUMAN	D	219	ENSP00000429993:V219D;ENSP00000339820:V219D	ENSP00000339820:V219D	V	+	2	0	TSPAN18	44904841	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	7.141000	0.77330	1.706000	0.51276	0.392000	0.25879	GTC		0.592	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783	
AMBRA1	55626	hgsc.bcm.edu	37	11	46568683	46568683	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:46568683C>T	ENST00000458649.2	-	4	776	c.358G>A	c.(358-360)Gtt>Att	p.V120I	AMBRA1_ENST00000533727.1_Missense_Mutation_p.V120I|AMBRA1_ENST00000426438.1_Missense_Mutation_p.V120I|AMBRA1_ENST00000534300.1_Missense_Mutation_p.V120I|AMBRA1_ENST00000314845.3_Missense_Mutation_p.V120I|AMBRA1_ENST00000528950.1_Missense_Mutation_p.V120I|AMBRA1_ENST00000298834.3_Missense_Mutation_p.V120I			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	120					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)		p.V120I(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CAAATCCTAACCTCCCCATCT	0.453																																					p.V120I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G358A	11						.						125.0	111.0	116.0					11																	46568683		2201	4299	6500	46525259	SO:0001583	missense	55626	exon4			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.358G>A	11.37:g.46568683C>T	ENSP00000415327:p.Val120Ile	Somatic		Capture	SOLID	Phase_I	46525259	NM_017749	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.038076	0.75617	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	L	0.31420	0.93	0.80722	D	1	D;D;D;D;D;D	0.69078	0.997;0.996;0.996;0.99;0.996;0.99	D;D;D;D;D;D	0.79108	0.992;0.99;0.99;0.98;0.987;0.98	T	0.49560	-0.8927	10	0.08179	T	0.78	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	120;120;120;120;120;120	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	I	120	ENSP00000318313:V120I;ENSP00000433372:V120I;ENSP00000431926:V120I;ENSP00000410899:V120I;ENSP00000298834:V120I;ENSP00000415327:V120I;ENSP00000433945:V120I	ENSP00000298834:V120I	V	-	1	0	AMBRA1	46525259	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.462000	0.80851	2.727000	0.93392	0.655000	0.94253	GTT		0.453	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749	
OR8H1	219469	hgsc.bcm.edu	37	11	56058115	56058115	+	Missense_Mutation	SNP	C	C	T	rs142532321		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:56058115C>T	ENST00000313022.2	-	1	451	c.424G>A	c.(424-426)Gct>Act	p.A142T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A142T(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTGACAAGAGCGCAACACAGC	0.443																																					p.A142T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G424A	11						.	C	THR/ALA	0,4402		0,0,2201	88.0	84.0	85.0		424	-6.7	0.0	11	dbSNP_134	85	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR8H1	NM_001005199.1	58	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	142/312	56058115	1,12993	2201	4296	6497	55814691	SO:0001583	missense	219469	exon1			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.424G>A	11.37:g.56058115C>T	ENSP00000323595:p.Ala142Thr	Somatic		Capture	SOLID	Phase_I	55814691	NM_001005199	B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	3.295	-0.144215	0.06627	0.0	1.16E-4	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00107	8.72	3.82	-6.65	0.01795	GPCR, rhodopsin-like superfamily (1);	1.344440	0.04727	N	0.420459	T	0.00073	0.0002	N	0.05414	-0.055	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.11867	-1.0570	10	0.22706	T	0.39	.	1.4659	0.02405	0.1201:0.2749:0.2509:0.3541	.	142	Q8NGG4	OR8H1_HUMAN	T	142;138	ENSP00000323595:A142T	ENSP00000323595:A142T	A	-	1	0	OR8H1	55814691	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.224000	0.01213	-1.233000	0.02551	-0.738000	0.03535	GCT		0.443	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199	
RTN4RL2	349667	hgsc.bcm.edu	37	11	57235499	57235499	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:57235499T>C	ENST00000533205.1	+	2	458	c.449T>C	c.(448-450)aTc>aCc	p.I150T	RTN4RL2_ENST00000335099.3_Missense_Mutation_p.I150T|RTN4RL2_ENST00000395120.2_Missense_Mutation_p.I150T					reticulon 4 receptor-like 2									p.I150T(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCCGGCAACATCTTCCGAGGC	0.662																																					p.I150T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T449C	11						.						56.0	57.0	56.0					11																	57235499		2201	4296	6497	56992075	SO:0001583	missense	349667	exon2			BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.449T>C	11.37:g.57235499T>C	ENSP00000435606:p.Ile150Thr	Somatic		Capture	SOLID	Phase_I	56992075	NM_178570		Missense_Mutation	SNP	ENST00000533205.1	37		.	.	.	.	.	.	.	.	.	.	T	20.7	4.037301	0.75617	.	.	ENSG00000186907	ENST00000335099;ENST00000533205;ENST00000395120	T;T;T	0.56776	0.44;0.44;0.44	4.67	4.67	0.58626	.	0.164121	0.27482	N	0.019164	T	0.50446	0.1616	N	0.13299	0.325	0.51233	D	0.999914	D	0.63046	0.992	P	0.57371	0.819	T	0.56032	-0.8046	10	0.51188	T	0.08	.	14.0826	0.64934	0.0:0.0:0.0:1.0	.	150	Q86UN3	R4RL2_HUMAN	T	150	ENSP00000335397:I150T;ENSP00000435606:I150T;ENSP00000378552:I150T	ENSP00000335397:I150T	I	+	2	0	RTN4RL2	56992075	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.198000	0.72106	1.865000	0.54081	0.459000	0.35465	ATC		0.662	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000392538.1	NM_178570	
CD5	921	hgsc.bcm.edu	37	11	60870040	60870040	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:60870040T>G	ENST00000347785.3	+	1	174	c.8T>G	c.(7-9)aTg>aGg	p.M3R		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	3					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|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)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.M3R(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		ACCATGCCCATGGGGTCTCTG	0.652																																					p.M3R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T8G	11						.						101.0	65.0	77.0					11																	60870040		2200	4297	6497	60626616	SO:0001583	missense	921	exon1			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.8T>G	11.37:g.60870040T>G	ENSP00000342681:p.Met3Arg	Somatic		Capture	SOLID	Phase_I	60626616	NM_014207	A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.052612	0.36181	.	.	ENSG00000110448	ENST00000347785;ENST00000544014	T;T	0.03496	4.76;3.91	3.53	3.53	0.40419	.	0.000000	0.48286	D	0.000184	T	0.06600	0.0169	N	0.14661	0.345	0.26066	N	0.981288	D	0.65815	0.995	D	0.70487	0.969	T	0.13495	-1.0507	10	0.87932	D	0	-30.731	8.7536	0.34633	0.0:0.0:0.0:1.0	.	3	P06127	CD5_HUMAN	R	3	ENSP00000342681:M3R;ENSP00000440899:M3R	ENSP00000342681:M3R	M	+	2	0	CD5	60626616	1.000000	0.71417	0.999000	0.59377	0.128000	0.20619	2.885000	0.48570	1.835000	0.53391	0.459000	0.35465	ATG		0.652	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207	
DDB1	1642	hgsc.bcm.edu	37	11	61097465	61097465	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:61097465T>C	ENST00000301764.7	-	3	689	c.292A>G	c.(292-294)Att>Gtt	p.I98V	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	98	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.I98V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATGATGTCAATGCTCTCGCCA	0.468								Nucleotide excision repair (NER)																													p.I98V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A292G	11						.						130.0	113.0	118.0					11																	61097465		2203	4299	6502	60854041	SO:0001583	missense	1642	exon3			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.292A>G	11.37:g.61097465T>C	ENSP00000301764:p.Ile98Val	Somatic		Capture	SOLID	Phase_I	60854041	NM_001923	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.352855	0.24512	.	.	ENSG00000167986	ENST00000301764;ENST00000539426;ENST00000535283;ENST00000542337;ENST00000543627	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	4.8	4.8	0.61643	.	0.054698	0.64402	D	0.000001	T	0.31827	0.0809	L	0.29908	0.895	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07309	-1.0779	10	0.25751	T	0.34	-16.3863	14.6448	0.68754	0.0:0.0:0.0:1.0	.	98;98	B7Z2A1;Q16531	.;DDB1_HUMAN	V	98;42;42;98;98	ENSP00000301764:I98V;ENSP00000445554:I42V;ENSP00000441825:I42V;ENSP00000444105:I98V	ENSP00000301764:I98V	I	-	1	0	DDB1	60854041	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.127000	0.71642	1.914000	0.55421	0.460000	0.39030	ATT		0.468	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	
DAK	26007	hgsc.bcm.edu	37	11	61110055	61110055	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:61110055G>A	ENST00000394900.3	+	9	929	c.700G>A	c.(700-702)Gcc>Acc	p.A234T		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	234	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)	p.A234S(1)|p.A234T(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GATGGCAACCGCCGATGAGAT	0.622																																					p.A234T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G700A	11						.						92.0	88.0	89.0					11																	61110055		2203	4299	6502	60866631	SO:0001583	missense	26007	exon9				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.700G>A	11.37:g.61110055G>A	ENSP00000378360:p.Ala234Thr	Somatic		Capture	SOLID	Phase_I	60866631	NM_015533	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485420	0.44147	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.29917	1.55;1.55	5.78	0.477	0.16784	Dak kinase (2);	0.417036	0.27464	N	0.019256	T	0.35770	0.0943	M	0.87180	2.865	0.09310	N	0.999999	P;B	0.37663	0.604;0.445	B;B	0.41236	0.235;0.351	T	0.23940	-1.0174	10	0.45353	T	0.12	-4.524	4.2934	0.10890	0.2707:0.0:0.4889:0.2403	.	234;234	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	T	234;233	ENSP00000378360:A234T;ENSP00000432539:A233T	ENSP00000378360:A234T	A	+	1	0	DAK	60866631	0.943000	0.32029	0.000000	0.03702	0.006000	0.05464	2.572000	0.45999	0.099000	0.17552	-0.251000	0.11542	GCC		0.622	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533	
INTS5	80789	hgsc.bcm.edu	37	11	62416932	62416932	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:62416932G>A	ENST00000330574.2	-	2	672	c.620C>T	c.(619-621)gCg>gTg	p.A207V	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	207					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.A207V(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ATCCACACACGCATCTGGGCA	0.512																																					p.A207V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C620T	11						.						139.0	119.0	126.0					11																	62416932		2202	4299	6501	62173508	SO:0001583	missense	80789	exon2			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.620C>T	11.37:g.62416932G>A	ENSP00000327889:p.Ala207Val	Somatic		Capture	SOLID	Phase_I	62173508	NM_030628	Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194952	0.78902	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	L	0.56769	1.78	0.46241	D	0.998946	D	0.58620	0.983	P	0.46275	0.51	T	0.65063	-0.6259	9	0.56958	D	0.05	.	15.1127	0.72372	0.0:0.0:1.0:0.0	.	207	Q6P9B9	INT5_HUMAN	V	207	.	ENSP00000327889:A207V	A	-	2	0	INTS5	62173508	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.357000	0.79456	2.437000	0.82529	0.650000	0.86243	GCG		0.512	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628	
ARL2	402	hgsc.bcm.edu	37	11	64789272	64789272	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:64789272C>A	ENST00000246747.4	+	5	595	c.500C>A	c.(499-501)cCg>cAg	p.P167Q	ARL2_ENST00000529384.1_Missense_Mutation_p.P167Q|ARL2_ENST00000533729.1_Missense_Mutation_p.P140Q|RP11-399J13.3_ENST00000301886.3_Intron	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	167					cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)	p.P167Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						AACCTGCTGCCGGGCATCGAC	0.622																																					p.P167Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C500A	11						.						59.0	53.0	55.0					11																	64789272		2201	4297	6498	64545848	SO:0001583	missense	402	exon5			AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.500C>A	11.37:g.64789272C>A	ENSP00000246747:p.Pro167Gln	Somatic		Capture	SOLID	Phase_I	64545848	NM_001667	G3V184|Q9BUK8	Missense_Mutation	SNP	ENST00000246747.4	37	CCDS8088.1	.	.	.	.	.	.	.	.	.	.	C	7.604	0.673362	0.14776	.	.	ENSG00000213465	ENST00000246747;ENST00000529384;ENST00000533729	T;T;D	0.81659	0.07;0.07;-1.52	4.5	-3.56	0.04626	.	0.712964	0.13024	U	0.419873	T	0.40272	0.1110	N	0.00380	-1.58	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43893	-0.9363	10	0.62326	D	0.03	0.0079	2.0734	0.03618	0.1284:0.2876:0.1275:0.4565	.	167	P36404	ARL2_HUMAN	Q	167;167;140	ENSP00000246747:P167Q;ENSP00000436021:P167Q;ENSP00000432971:P140Q	ENSP00000246747:P167Q	P	+	2	0	ARL2	64545848	0.000000	0.05858	0.002000	0.10522	0.441000	0.31987	0.100000	0.15231	-0.729000	0.04875	-1.370000	0.01191	CCG		0.622	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385963.1	NM_001667	
POLA2	23649	hgsc.bcm.edu	37	11	65063424	65063424	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:65063424T>C	ENST00000265465.3	+	17	2141	c.1610T>C	c.(1609-1611)gTc>gCc	p.V537A	POLA2_ENST00000541089.1_Missense_Mutation_p.V329A|POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	537					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)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)	p.V537A(1)		endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	ACCCCAGATGTCCTCATCATC	0.498																																					p.V537A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1610C	11						.						192.0	176.0	181.0					11																	65063424		2201	4297	6498	64820000	SO:0001583	missense	23649	exon17			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1610T>C	11.37:g.65063424T>C	ENSP00000265465:p.Val537Ala	Somatic		Capture	SOLID	Phase_I	64820000	NM_002689	B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	CCDS8098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.63|18.63	3.666055|3.666055	0.67700|0.67700	.|.	.|.	ENSG00000014138|ENSG00000014138	ENST00000525924|ENST00000265465;ENST00000541089	.|T;T	.|0.33438	.|1.41;1.41	5.05|5.05	5.05|5.05	0.67936|0.67936	.|DNA polymerase alpha/epsilon, subunit B (1);	.|0.256865	.|0.39146	.|N	.|0.001447	T|T	0.48352|0.48352	0.1495|0.1495	M|M	0.89095|0.89095	3.005|3.005	0.51767|0.51767	D|D	0.999935|0.999935	.|P;P	.|0.49783	.|0.928;0.928	.|P;P	.|0.47864	.|0.559;0.559	T|T	0.60561|0.60561	-0.7239|-0.7239	5|10	.|0.87932	.|D	.|0	-12.3808|-12.3808	12.7762|12.7762	0.57451|0.57451	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|329;537	.|B4DNB4;Q14181	.|.;DPOA2_HUMAN	P|A	207|537;329	.|ENSP00000265465:V537A;ENSP00000443222:V329A	.|ENSP00000265465:V537A	S|V	+|+	1|2	0|0	POLA2|POLA2	64820000|64820000	0.998000|0.998000	0.40836|0.40836	0.018000|0.018000	0.16275|0.16275	0.418000|0.418000	0.31294|0.31294	7.596000|7.596000	0.82721|0.82721	1.909000|1.909000	0.55274|0.55274	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.498	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689	
CD248	57124	hgsc.bcm.edu	37	11	66083063	66083063	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:66083063T>C	ENST00000311330.3	-	1	1452	c.1436A>G	c.(1435-1437)gAc>gGc	p.D479G	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	479	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)	p.D479G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GATCTGGTGGTCACGGGACAA	0.607																																					p.D479G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1436G	11						.						133.0	121.0	125.0					11																	66083063		2200	4295	6495	65839639	SO:0001583	missense	57124	exon1			AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1436A>G	11.37:g.66083063T>C	ENSP00000308117:p.Asp479Gly	Somatic		Capture	SOLID	Phase_I	65839639	NM_020404	Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520748	0.44866	.	.	ENSG00000174807	ENST00000311330	D	0.87179	-2.22	4.65	-2.87	0.05700	.	.	.	.	.	T	0.72301	0.3443	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.57659	-0.7773	9	0.49607	T	0.09	-5.6175	0.9255	0.01324	0.1512:0.1858:0.3108:0.3521	.	479	Q9HCU0	CD248_HUMAN	G	479	ENSP00000308117:D479G	ENSP00000308117:D479G	D	-	2	0	CD248	65839639	0.585000	0.26774	0.002000	0.10522	0.323000	0.28346	-0.019000	0.12546	-0.288000	0.09051	0.377000	0.23210	GAC		0.607	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404	
SPTBN2	6712	hgsc.bcm.edu	37	11	66460206	66460206	+	Missense_Mutation	SNP	C	C	T	rs201565101		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:66460206C>T	ENST00000533211.1	-	26	5322	c.4991G>A	c.(4990-4992)cGg>cAg	p.R1664Q	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1664Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1664Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1664					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.R1664Q(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						GATGGATATCCGAGTGCTGCA	0.632																																					p.R1664Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4991A	11						.						43.0	33.0	37.0					11																	66460206		2199	4292	6491	66216782	SO:0001583	missense	6712	exon25			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.4991G>A	11.37:g.66460206C>T	ENSP00000432568:p.Arg1664Gln	Somatic		Capture	SOLID	Phase_I	66216782	NM_006946	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013589	0.54468	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.48836	0.8;0.8;0.8	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.26629	0.0651	N	0.16233	0.39	0.45528	D	0.998487	P	0.46578	0.88	B	0.37091	0.241	T	0.24368	-1.0162	10	0.02654	T	1	.	16.4485	0.83972	0.0:1.0:0.0:0.0	.	1664	O15020	SPTN2_HUMAN	Q	1664	ENSP00000432568:R1664Q;ENSP00000311489:R1664Q;ENSP00000433593:R1664Q	ENSP00000311489:R1664Q	R	-	2	0	SPTBN2	66216782	0.795000	0.28851	0.037000	0.18230	0.418000	0.31294	4.773000	0.62331	2.409000	0.81822	0.462000	0.41574	CGG		0.632	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	
PC	5091	hgsc.bcm.edu	37	11	66617211	66617211	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:66617211A>G	ENST00000393958.2	-	20	3111	c.3018T>C	c.(3016-3018)gaT>gaC	p.D1006D	PC_ENST00000393960.1_Silent_p.D1006D|PC_ENST00000529047.1_Silent_p.D126D|PC_ENST00000393955.2_Silent_p.D1006D|PC_ENST00000528224.1_5'UTR	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	1006					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.D1006D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTGAGAGCACATCTTCCGGCG	0.622																																					p.D1006D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3018C	11						.						116.0	91.0	100.0					11																	66617211		2200	4295	6495	66373787	SO:0001819	synonymous_variant	5091	exon21			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.3018T>C	11.37:g.66617211A>G		Somatic		Capture	SOLID	Phase_I	66373787	NM_001040716	B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	CCDS8152.1																																																																																				0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	
SSH3	54961	hgsc.bcm.edu	37	11	67072310	67072310	+	Silent	SNP	A	A	G	rs147363507		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:67072310A>G	ENST00000308127.4	+	3	349	c.171A>G	c.(169-171)gcA>gcG	p.A57A	SSH3_ENST00000308298.7_Silent_p.A57A|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Silent_p.A57A	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	57					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A57A(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ATGATGATGCAGCAGAGGCCA	0.627																																					p.A57A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A171G	11						.						54.0	53.0	53.0					11																	67072310		2199	4295	6494	66828886	SO:0001819	synonymous_variant	54961	exon3			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.171A>G	11.37:g.67072310A>G		Somatic		Capture	SOLID	Phase_I	66828886	NM_017857	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	ENST00000308127.4	37	CCDS8157.1																																																																																				0.627	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276	
LRP5	4041	hgsc.bcm.edu	37	11	68125269	68125269	+	Missense_Mutation	SNP	G	G	A	rs121908671		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:68125269G>A	ENST00000294304.7	+	3	746	c.640G>A	c.(640-642)Gcc>Acc	p.A214T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	214	Beta-propeller 1.		A -> T (in WENHY). {ECO:0000269|PubMed:12579474}.|A -> V (in WENHY). {ECO:0000269|PubMed:12579474}.		adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A214T(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGGCTGACGCCAAGCTCAG	0.597																																					p.A214T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G640A	11	GRCh37	CM030683	LRP5	M	rs121908671	.						78.0	60.0	66.0					11																	68125269		2200	4294	6494	67881845	SO:0001583	missense	4041	exon3			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.640G>A	11.37:g.68125269G>A	ENSP00000294304:p.Ala214Thr	Somatic		Capture	SOLID	Phase_I	67881845	NM_002335	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833274	0.91036	.	.	ENSG00000162337	ENST00000294304	D	0.96427	-4.01	3.76	3.76	0.43208	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.48286	U	0.000192	D	0.98197	0.9404	M	0.86573	2.825	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99044	1.0825	9	0.87932	D	0	.	16.9039	0.86120	0.0:0.0:1.0:0.0	.	214	O75197	LRP5_HUMAN	T	214	ENSP00000294304:A214T	ENSP00000294304:A214T	A	+	1	0	LRP5	67881845	1.000000	0.71417	0.955000	0.39395	0.772000	0.43724	9.340000	0.97038	2.407000	0.81776	0.455000	0.32223	GCC		0.597	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335	
KRTAP5-11	440051	hgsc.bcm.edu	37	11	71293686	71293686	+	Silent	SNP	G	G	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:71293686G>C	ENST00000398530.1	-	1	235	c.198C>G	c.(196-198)ggC>ggG	p.G66G	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	66	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G66G(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAGAGCCACAGCCCCCTTTGG	0.622																																					p.G66G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C198G	11						.						96.0	122.0	113.0					11																	71293686		2200	4293	6493	70971334	SO:0001819	synonymous_variant	440051	exon1			AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.198C>G	11.37:g.71293686G>C		Somatic		Capture	SOLID	Phase_I	70971334	NM_001005405		Silent	SNP	ENST00000398530.1	37	CCDS41685.1																																																																																				0.622	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405	
CHRDL2	25884	hgsc.bcm.edu	37	11	74441905	74441905	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:74441905G>C	ENST00000376332.3	-	1	525	c.29C>G	c.(28-30)tCc>tGc	p.S10C	CHRDL2_ENST00000263671.5_Missense_Mutation_p.S10C|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	10					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.S10C(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					TCCCAGCAAGGAGGAGAGGAC	0.677																																					p.S10C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C29G	11						.						57.0	45.0	49.0					11																	74441905		2197	4291	6488	74119553	SO:0001583	missense	25884	exon1			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.29C>G	11.37:g.74441905G>C	ENSP00000365510:p.Ser10Cys	Somatic		Capture	SOLID	Phase_I	74119553	NM_015424	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37		.	.	.	.	.	.	.	.	.	.	G	15.21	2.765973	0.49574	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000528789	T;T;T	0.48522	0.81;0.81;1.38	3.94	-1.85	0.07784	.	1.187280	0.06047	N	0.655924	T	0.42223	0.1193	N	0.19112	0.55	0.24345	N	0.994944	B;D;D	0.69078	0.002;0.997;0.985	B;P;P	0.55999	0.004;0.781;0.789	T	0.35001	-0.9806	10	0.66056	D	0.02	-3.4689	4.2689	0.10776	0.3007:0.3217:0.3776:0.0	.	10;10;10	E9PCG7;Q6WN34;Q6WN34-2	.;CRDL2_HUMAN;.	C	10	ENSP00000263671:S10C;ENSP00000365510:S10C;ENSP00000431380:S10C	ENSP00000263671:S10C	S	-	2	0	CHRDL2	74119553	0.999000	0.42202	0.976000	0.42696	0.886000	0.51366	0.185000	0.16958	-0.461000	0.06993	-1.865000	0.00557	TCC		0.677	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1		
GAB2	9846	hgsc.bcm.edu	37	11	77936227	77936227	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:77936227T>G	ENST00000361507.4	-	5	1314	c.1229A>C	c.(1228-1230)gAg>gCg	p.E410A	GAB2_ENST00000340149.2_Missense_Mutation_p.E372A|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	410					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.E410A(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CTGTGGGTACTCGTAGGTCTC	0.517																																					p.E372A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1115C	11						.						111.0	99.0	103.0					11																	77936227		2200	4292	6492	77613875	SO:0001583	missense	9846	exon5			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1229A>C	11.37:g.77936227T>G	ENSP00000354952:p.Glu410Ala	Somatic		Capture	SOLID	Phase_I	77613875	NM_012296	A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.847941	0.51164	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.25414	1.8;1.8	5.52	5.52	0.82312	.	0.536654	0.18081	U	0.152293	T	0.20659	0.0497	N	0.22421	0.69	0.35613	D	0.808832	B	0.20368	0.044	B	0.21708	0.036	T	0.14896	-1.0456	10	0.31617	T	0.26	-10.361	15.9319	0.79668	0.0:0.0:0.0:1.0	.	410	Q9UQC2	GAB2_HUMAN	A	372;410	ENSP00000343959:E372A;ENSP00000354952:E410A	ENSP00000343959:E372A	E	-	2	0	GAB2	77613875	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	3.976000	0.56867	2.225000	0.72522	0.459000	0.35465	GAG		0.517	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491	
ACAD8	27034	hgsc.bcm.edu	37	11	134128472	134128472	+	Silent	SNP	G	G	A	rs398124269|rs572820646		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr11:134128472G>A	ENST00000281182.4	+	4	550	c.444G>A	c.(442-444)ccG>ccA	p.P148P	ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000537423.1_Silent_p.P71P|ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000543332.1_Silent_p.P50P	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	148					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.P148P(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	TTTGCCCACCGCTCTGTACCA	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		21634	0.0		0.0	False		,,,				2504	0.001				p.P148P	GBM(65;238 1125 33403 41853 48889)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G444A	11						.						135.0	95.0	108.0					11																	134128472		2201	4297	6498	133633682	SO:0001819	synonymous_variant	27034	exon4			AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.444G>A	11.37:g.134128472G>A		Somatic		Capture	SOLID	Phase_I	133633682	NM_014384	B7Z5W4|Q6ZWP6|Q9BUS8	Silent	SNP	ENST00000281182.4	37	CCDS8498.1																																																																																				0.473	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384	
PAK1IP1	55003	hgsc.bcm.edu	37	6	10707686	10707686	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:10707686A>G	ENST00000379568.3	+	8	1070	c.779A>G	c.(778-780)cAt>cGt	p.H260R		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	260					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.H260R(1)		kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				CCAGAGCATCATGTTATTGTT	0.328																																					p.H260R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A779G	6						.						242.0	222.0	228.0					6																	10707686		2203	4300	6503	10815672	SO:0001583	missense	55003	exon8			AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.779A>G	6.37:g.10707686A>G	ENSP00000368887:p.His260Arg	Somatic		Capture	SOLID	Phase_I	10815672	NM_017906	Q5T4J2|Q96QJ8|Q96T87	Missense_Mutation	SNP	ENST00000379568.3	37	CCDS34339.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.379428	0.24944	.	.	ENSG00000111845	ENST00000379568	T	0.33216	1.42	5.76	3.25	0.37280	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.139269	0.64402	D	0.000003	T	0.09905	0.0243	L	0.51422	1.61	0.39097	D	0.961216	B	0.12013	0.005	B	0.15052	0.012	T	0.08126	-1.0737	10	0.14252	T	0.57	1.8767	6.7293	0.23375	0.7659:0.1533:0.0808:0.0	.	260	Q9NWT1	PK1IP_HUMAN	R	260	ENSP00000368887:H260R	ENSP00000368887:H260R	H	+	2	0	PAK1IP1	10815672	0.855000	0.29742	0.613000	0.29037	0.952000	0.60782	1.887000	0.39698	1.011000	0.39340	0.533000	0.62120	CAT		0.328	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	NM_017906	
LAMA4	3910	hgsc.bcm.edu	37	6	112462119	112462119	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:112462119C>A	ENST00000230538.7	-	22	3216	c.2819G>T	c.(2818-2820)gGa>gTa	p.G940V	LAMA4_ENST00000424408.2_Missense_Mutation_p.G933V|LAMA4_ENST00000389463.4_Missense_Mutation_p.G933V|LAMA4_ENST00000522006.1_Missense_Mutation_p.G933V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	940	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.G933V(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCATGTTTTCCCACCCTATT	0.348																																					p.G933V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2798T	6						.						86.0	87.0	87.0					6																	112462119		2203	4300	6503	112568812	SO:0001583	missense	3910	exon22				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2819G>T	6.37:g.112462119C>A	ENSP00000230538:p.Gly940Val	Somatic		Capture	SOLID	Phase_I	112568812	NM_001105207	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.750986	0.69533	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.81	5.81	0.92471	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.098174	0.64402	D	0.000001	T	0.61413	0.2345	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.53954	-0.8365	10	0.31617	T	0.26	.	19.0687	0.93123	0.0:1.0:0.0:0.0	.	940;933	Q16363;Q16363-2	LAMA4_HUMAN;.	V	940;933;933;933	ENSP00000230538:G940V;ENSP00000429488:G933V;ENSP00000374114:G933V;ENSP00000416470:G933V	ENSP00000230538:G940V	G	-	2	0	LAMA4	112568812	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.263000	0.78421	2.755000	0.94549	0.650000	0.86243	GGA		0.348	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
RSPH4A	345895	hgsc.bcm.edu	37	6	116937985	116937985	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:116937985G>A	ENST00000229554.5	+	1	336	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	RSPH4A_ENST00000368581.4_Missense_Mutation_p.A67T|RSPH4A_ENST00000368580.4_Missense_Mutation_p.A67T	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	67					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.A67T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCAGTCTAGAGCCAAGACGCC	0.642									Kartagener syndrome																												p.A67T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199A	6						.						30.0	38.0	35.0					6																	116937985		2203	4300	6503	117044678	SO:0001583	missense	345895	exon1	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.199G>A	6.37:g.116937985G>A	ENSP00000229554:p.Ala67Thr	Somatic		Capture	SOLID	Phase_I	117044678	NM_001161664	B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021551	0.19433	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	T;T;T	0.66099	-0.19;1.44;1.41	4.65	1.91	0.25777	.	2.261880	0.01784	N	0.031925	T	0.18800	0.0451	N	0.11560	0.145	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.12156	0.007;0.001	T	0.09773	-1.0659	10	0.14656	T	0.56	1.9845	7.0012	0.24811	0.2819:0.0:0.7181:0.0	.	67;67	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	T	67	ENSP00000357570:A67T;ENSP00000229554:A67T;ENSP00000357569:A67T	ENSP00000229554:A67T	A	+	1	0	RSPH4A	117044678	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.227000	0.09126	0.302000	0.22762	0.555000	0.69702	GCC		0.642	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892	
GPRC6A	222545	hgsc.bcm.edu	37	6	117113471	117113471	+	Missense_Mutation	SNP	T	T	C	rs200871005		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:117113471T>C	ENST00000310357.3	-	6	2636	c.2615A>G	c.(2614-2616)gAc>gGc	p.D872G	GPRC6A_ENST00000368549.3_Missense_Mutation_p.D801G|GPRC6A_ENST00000530250.1_Missense_Mutation_p.D697G	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	872					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D872G(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCTCATGGAGTCCAGTGAAGC	0.468													T|||	1	0.000199681	0.0	0.0	5008	,	,		20794	0.001		0.0	False		,,,				2504	0.0				p.D872G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2615G	6						.						147.0	141.0	143.0					6																	117113471		2203	4300	6503	117220164	SO:0001583	missense	222545	exon6			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2615A>G	6.37:g.117113471T>C	ENSP00000309493:p.Asp872Gly	Somatic		Capture	SOLID	Phase_I	117220164	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	CCDS5112.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	8.658	0.899970	0.17686	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.90788	-2.49;-2.73;-2.73	3.88	3.88	0.44766	.	2.351710	0.01701	N	0.027188	D	0.83473	0.5262	L	0.43152	1.355	0.41158	D	0.986079	B;B;B	0.29301	0.241;0.241;0.141	B;B;B	0.30401	0.115;0.115;0.057	T	0.68629	-0.5358	10	0.49607	T	0.09	.	11.415	0.49947	0.0:0.0:0.0:1.0	.	801;697;872	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	G	872;801;697	ENSP00000309493:D872G;ENSP00000357537:D801G;ENSP00000433465:D697G	ENSP00000309493:D872G	D	-	2	0	GPRC6A	117220164	1.000000	0.71417	0.986000	0.45419	0.149000	0.21700	2.390000	0.44416	1.639000	0.50556	0.402000	0.26972	GAC		0.468	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
CLVS2	134829	hgsc.bcm.edu	37	6	123319011	123319011	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:123319011A>C	ENST00000275162.5	+	2	1424	c.89A>C	c.(88-90)gAc>gCc	p.D30A	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	30					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.D30A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTGCACCAGGACATCCAGGAG	0.542																																					p.D30A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A89C	6						.						139.0	120.0	126.0					6																	123319011		2203	4300	6503	123360710	SO:0001583	missense	134829	exon2			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.89A>C	6.37:g.123319011A>C	ENSP00000275162:p.Asp30Ala	Somatic		Capture	SOLID	Phase_I	123360710	NM_001010852	B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.516556	0.64634	.	.	ENSG00000146352	ENST00000275162	D	0.86366	-2.11	5.39	5.39	0.77823	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84479	0.5481	N	0.17723	0.515	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84142	0.0418	10	0.26408	T	0.33	-4.0713	15.5751	0.76373	1.0:0.0:0.0:0.0	.	30	Q5SYC1	CLVS2_HUMAN	A	30	ENSP00000275162:D30A	ENSP00000275162:D30A	D	+	2	0	CLVS2	123360710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.128000	0.94424	2.270000	0.75569	0.477000	0.44152	GAC		0.542	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852	
LAMA2	3908	hgsc.bcm.edu	37	6	129591824	129591824	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:129591824A>G	ENST00000421865.2	+	17	2427	c.2378A>G	c.(2377-2379)tAt>tGt	p.Y793C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	793	Laminin EGF-like 6. {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.Y793C(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)		CCTGGTTTCTATGGCGAGCCT	0.418																																					p.Y793C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2378G	6						.						153.0	143.0	146.0					6																	129591824		2203	4300	6503	129633517	SO:0001583	missense	3908	exon17			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.2378A>G	6.37:g.129591824A>G	ENSP00000400365:p.Tyr793Cys	Somatic		Capture	SOLID	Phase_I	129633517	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.933184	0.73442	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.64260	-0.09	5.77	4.58	0.56647	EGF-like, laminin (4);	0.074351	0.56097	D	0.000030	T	0.77705	0.4170	M	0.91196	3.185	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.82944	-0.0206	10	0.87932	D	0	.	12.1308	0.53942	0.8714:0.0:0.0:0.1286	.	793;793	A6NF00;P24043	.;LAMA2_HUMAN	C	793	ENSP00000400365:Y793C	ENSP00000346769:Y793C	Y	+	2	0	LAMA2	129633517	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.645000	0.67909	0.966000	0.38159	0.482000	0.46254	TAT		0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	hgsc.bcm.edu	37	6	129649547	129649547	+	Missense_Mutation	SNP	C	C	T	rs368379507	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:129649547C>T	ENST00000421865.2	+	29	4350	c.4301C>T	c.(4300-4302)tCg>tTg	p.S1434L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1434	Laminin EGF-like 15. {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.S1434L(3)		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)		CCTGAAACATCGATATGCCAG	0.537													C|||	4	0.000798722	0.0	0.0	5008	,	,		18212	0.0		0.0	False		,,,				2504	0.0041				p.S1434L												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.C4301T	6						.	C	LEU/SER,LEU/SER	0,4406		0,0,2203	156.0	126.0	137.0		4301,4301	4.3	0.6	6		137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1434/3123,1434/3119	129649547	1,13005	2203	4300	6503	129691240	SO:0001583	missense	3908	exon29			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.4301C>T	6.37:g.129649547C>T	ENSP00000400365:p.Ser1434Leu	Somatic		Capture	SOLID	Phase_I	129691240	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154097	0.78114	0.0	1.16E-4	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.60040	0.22	5.15	4.27	0.50696	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	N	0.17312	0.475	0.47698	D	0.999494	D;D	0.69078	0.997;0.99	P;P	0.61132	0.884;0.758	T	0.59473	-0.7448	10	0.66056	D	0.02	.	15.5824	0.76455	0.0:0.8615:0.1385:0.0	.	1434;1434	A6NF00;P24043	.;LAMA2_HUMAN	L	1434	ENSP00000400365:S1434L	ENSP00000346769:S1434L	S	+	2	0	LAMA2	129691240	1.000000	0.71417	0.576000	0.28549	0.950000	0.60333	6.477000	0.73591	1.143000	0.42306	0.467000	0.42956	TCG		0.537	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
MAP7	9053	hgsc.bcm.edu	37	6	136732811	136732811	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:136732811T>C	ENST00000354570.3	-	3	601	c.191A>G	c.(190-192)gAt>gGt	p.D64G	MAP7_ENST00000544465.1_Missense_Mutation_p.D49G|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000438100.2_Missense_Mutation_p.D86G|MAP7_ENST00000454590.1_Missense_Mutation_p.D86G	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	64					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.D64G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTGCCGGTCATCAACACGTAA	0.483																																					p.D86G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A257G	6						.						33.0	34.0	33.0					6																	136732811		2199	4290	6489	136774504	SO:0001583	missense	9053	exon4			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.191A>G	6.37:g.136732811T>C	ENSP00000346581:p.Asp64Gly	Somatic		Capture	SOLID	Phase_I	136774504	NM_001198614	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.868432	0.32977	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000345567	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.39	5.39	0.77823	.	0.000000	0.48286	D	0.000198	T	0.28400	0.0702	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.993;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.994;0.994;0.998;0.994;0.984;0.998;0.998;0.994	T	0.02813	-1.1107	10	0.49607	T	0.09	-25.5991	11.8198	0.52232	0.0:0.0:0.0:1.0	.	86;86;49;86;86;64;64;64	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;.;MAP7_HUMAN	G	64;86;49;86;64	ENSP00000346581:D64G;ENSP00000414712:D86G;ENSP00000445737:D49G;ENSP00000400790:D86G	ENSP00000344217:D64G	D	-	2	0	MAP7	136774504	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.089000	0.57685	2.051000	0.60960	0.533000	0.62120	GAT		0.483	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980	
MAP3K5	4217	hgsc.bcm.edu	37	6	136888982	136888982	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:136888982T>A	ENST00000359015.4	-	26	3908	c.3548A>T	c.(3547-3549)gAg>gTg	p.E1183V	MAP3K5_ENST00000355845.4_Missense_Mutation_p.E430V	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1183					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.E1183V(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGTATCACTCTCAGATGCAAG	0.388																																					p.E1183V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3548T	6						.						157.0	135.0	143.0					6																	136888982		2203	4300	6503	136930675	SO:0001583	missense	4217	exon26			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3548A>T	6.37:g.136888982T>A	ENSP00000351908:p.Glu1183Val	Somatic		Capture	SOLID	Phase_I	136930675	NM_005923	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.569118	0.86439	.	.	ENSG00000197442	ENST00000359015;ENST00000355845	T;T	0.74315	-0.69;-0.83	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.83179	0.5198	M	0.79123	2.44	0.80722	D	1	P;D	0.76494	0.931;0.999	P;D	0.78314	0.566;0.991	D	0.85845	0.1400	10	0.66056	D	0.02	.	15.3207	0.74120	0.0:0.0:0.0:1.0	.	1264;1183	Q59GL6;Q99683	.;M3K5_HUMAN	V	1183;430	ENSP00000351908:E1183V;ENSP00000348104:E430V	ENSP00000348104:E430V	E	-	2	0	MAP3K5	136930675	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.499000	0.81566	2.007000	0.58848	0.533000	0.62120	GAG		0.388	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		
IL20RA	53832	hgsc.bcm.edu	37	6	137323122	137323122	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:137323122G>A	ENST00000316649.5	-	7	1470	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V	IL20RA_ENST00000468393.1_5'Flank|IL20RA_ENST00000541547.1_Missense_Mutation_p.A363V|IL20RA_ENST00000367748.1_Missense_Mutation_p.A301V|RP11-204P2.3_ENST00000458017.1_RNA	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	412					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)		p.A412V(2)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TTCAGGCCCCGCACAAATGTC	0.517																																					p.A412V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1235T	6						.						62.0	55.0	58.0					6																	137323122		2203	4300	6503	137364815	SO:0001583	missense	53832	exon7			AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1235C>T	6.37:g.137323122G>A	ENSP00000314976:p.Ala412Val	Somatic		Capture	SOLID	Phase_I	137364815	NM_014432	B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	G	8.540	0.873131	0.17322	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.59502	0.53;1.96;0.26	5.96	-6.15	0.02105	.	5.070270	0.00166	N	0.000001	T	0.08758	0.0217	N	0.02011	-0.69	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.04013	0.001;0.001	T	0.04840	-1.0923	10	0.25751	T	0.34	0.9627	4.7419	0.13017	0.1682:0.1241:0.5321:0.1756	.	301;412	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	V	412;301;363	ENSP00000314976:A412V;ENSP00000356722:A301V;ENSP00000437843:A363V	ENSP00000314976:A412V	A	-	2	0	IL20RA	137364815	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.034000	0.03567	-0.989000	0.03485	-0.793000	0.03317	GCG		0.517	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432	
PEX3	8504	hgsc.bcm.edu	37	6	143795968	143795968	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:143795968A>G	ENST00000367591.4	+	9	856	c.793A>G	c.(793-795)Aat>Gat	p.N265D		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	265					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)	p.N265D(1)		endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TAAACTTCTCAATGAAACTAG	0.333																																					p.N265D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A793G	6						.						123.0	121.0	121.0					6																	143795968		2203	4298	6501	143837661	SO:0001583	missense	8504	exon9			AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.793A>G	6.37:g.143795968A>G	ENSP00000356563:p.Asn265Asp	Somatic		Capture	SOLID	Phase_I	143837661	NM_003630	Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.855145	0.71719	.	.	ENSG00000034693	ENST00000367591	T	0.39229	1.09	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	L	0.38838	1.175	0.80722	D	1	D	0.57571	0.98	P	0.52957	0.714	T	0.06303	-1.0834	10	0.09338	T	0.73	-16.3417	15.8531	0.78952	1.0:0.0:0.0:0.0	.	265	P56589	PEX3_HUMAN	D	265	ENSP00000356563:N265D	ENSP00000356563:N265D	N	+	1	0	PEX3	143837661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.203000	0.70933	0.533000	0.62120	AAT		0.333	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1		
EPM2A	7957	hgsc.bcm.edu	37	6	145948827	145948827	+	Silent	SNP	G	G	T	rs104893950		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:145948827G>T	ENST00000367519.3	-	4	1246	c.721C>A	c.(721-723)Cga>Aga	p.R241R		NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	241					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)	p.R241R(1)		kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		ATCTGTACTCGGCCTGCGGTG	0.612																																					p.R241R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C721A	6	GRCh37	CM980608	EPM2A	M	rs104893950	.						31.0	30.0	30.0					6																	145948827		2203	4300	6503	145990520	SO:0001819	synonymous_variant	7957	exon4			AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3413	protein-coding gene	gene with protein product		607566	"""epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"""			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.721C>A	6.37:g.145948827G>T		Somatic		Capture	SOLID	Phase_I	145990520	NM_001018041	B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Silent	SNP	ENST00000367519.3	37	CCDS5206.1																																																																																				0.612	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042564.1		
ESR1	2099	hgsc.bcm.edu	37	6	152382219	152382219	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:152382219G>T	ENST00000206249.3	+	6	1691	c.1329G>T	c.(1327-1329)gaG>gaT	p.E443D	ESR1_ENST00000427531.2_Missense_Mutation_p.E270D|ESR1_ENST00000440973.1_Missense_Mutation_p.E443D|ESR1_ENST00000456483.2_Missense_Mutation_p.E331D|ESR1_ENST00000406599.1_Missense_Mutation_p.E182D|ESR1_ENST00000338799.5_Missense_Mutation_p.E443D|ESR1_ENST00000443427.1_Missense_Mutation_p.E443D	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	443	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E443D(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TGCAGGGAGAGGAGTTTGTGT	0.413																																					p.E443D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1329T	6						.						144.0	134.0	138.0					6																	152382219		2203	4300	6503	152423912	SO:0001583	missense	2099	exon7			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1329G>T	6.37:g.152382219G>T	ENSP00000206249:p.Glu443Asp	Somatic		Capture	SOLID	Phase_I	152423912	NM_001122740	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.81|16.81	3.226462|3.226462	0.58668|0.58668	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000431590;ENST00000544394|ENST00000427531	D;D;D;D;D;D;D|.	0.97114|.	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25|.	5.38|5.38	-0.258|-0.258	0.12975|0.12975	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43411|0.43411	0.1246|0.1246	L|L	0.53729|0.53729	1.69|1.69	0.53005|0.53005	D|D	0.999965|0.999965	B;P;D;B;B;B;B|.	0.67145|.	0.029;0.931;0.996;0.001;0.061;0.002;0.002|.	B;D;D;B;B;B;B|.	0.72338|.	0.035;0.916;0.977;0.001;0.073;0.006;0.01|.	T|T	0.41945|0.41945	-0.9480|-0.9480	10|5	0.87932|.	D|.	0|.	.|.	9.8387|9.8387	0.40985|0.40985	0.6015:0.0:0.3985:0.0|0.6015:0.0:0.3985:0.0	.|.	347;138;182;370;442;443;443|.	B0QYW6;C8CJL6;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372|.	.;.;.;.;.;.;ESR1_HUMAN|.	D|M	443;443;331;443;443;182;371;270|348	ENSP00000405330:E443D;ENSP00000342630:E443D;ENSP00000415934:E331D;ENSP00000387500:E443D;ENSP00000206249:E443D;ENSP00000384064:E182D;ENSP00000445454:E270D|.	ENSP00000206249:E443D|.	E|R	+|+	3|2	2|0	ESR1|ESR1	152423912|152423912	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	1.982000|1.982000	0.40638|0.40638	0.013000|0.013000	0.14918|0.14918	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.413	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1		
SYNE1	23345	hgsc.bcm.edu	37	6	152728151	152728151	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:152728151C>T	ENST00000367255.5	-	45	7322	c.6721G>A	c.(6721-6723)Gag>Aag	p.E2241K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E2241K|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2278K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2248K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2248K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2241					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E2241K(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAATTTACCTCAAATTCTTTA	0.373										HNSCC(10;0.0054)																											p.E2248K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6742A	6						.						119.0	107.0	111.0					6																	152728151		2203	4300	6503	152769844	SO:0001583	missense	23345	exon45			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6721G>A	6.37:g.152728151C>T	ENSP00000356224:p.Glu2241Lys	Somatic		Capture	SOLID	Phase_I	152769844	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750919	0.31046	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.40225	1.2;1.2;1.2;1.2;1.04	5.3	5.3	0.74995	.	0.097805	0.44902	D	0.000414	T	0.15003	0.0362	L	0.41236	1.265	0.80722	D	1	B;B;B;B	0.27229	0.172;0.002;0.002;0.01	B;B;B;B	0.18561	0.022;0.003;0.003;0.009	T	0.02950	-1.1090	10	0.06365	T	0.9	.	13.932	0.64001	0.0:0.7269:0.2731:0.0	.	2224;2241;2241;2248	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2241;2248;2241;2248;2278	ENSP00000356224:E2241K;ENSP00000396024:E2248K;ENSP00000265368:E2241K;ENSP00000390975:E2248K;ENSP00000341887:E2278K	ENSP00000265368:E2241K	E	-	1	0	SYNE1	152769844	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.093000	0.57714	2.653000	0.90120	0.561000	0.74099	GAG		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
MAP3K4	4216	hgsc.bcm.edu	37	6	161455387	161455387	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:161455387C>T	ENST00000392142.4	+	2	397	c.249C>T	c.(247-249)acC>acT	p.T83T	MAP3K4_ENST00000366919.2_Silent_p.T83T|MAP3K4_ENST00000348824.7_Silent_p.T83T|MAP3K4_ENST00000366920.2_Silent_p.T83T	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	83					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.T83T(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)		TTTATGGTACCTCTCCCCCCA	0.468																																					p.T83T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C249T	6						.						91.0	88.0	89.0					6																	161455387		2203	4300	6503	161375377	SO:0001819	synonymous_variant	4216	exon2			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.249C>T	6.37:g.161455387C>T		Somatic		Capture	SOLID	Phase_I	161375377	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	CCDS34565.1																																																																																				0.468	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
PDE10A	10846	hgsc.bcm.edu	37	6	165842162	165842162	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:165842162A>G	ENST00000366882.1	-	11	963	c.809T>C	c.(808-810)cTa>cCa	p.L270P	PDE10A_ENST00000539869.2_Missense_Mutation_p.L280P|PDE10A_ENST00000354448.4_Missense_Mutation_p.L270P			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	270	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.L270P(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GTGTTCAAGTAGAGAATCTAT	0.299																																					p.L270P	Esophageal Squamous(22;308 615 5753 12038 40624)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T809C	6						.						81.0	75.0	77.0					6																	165842162		2197	4292	6489	165762152	SO:0001583	missense	10846	exon11			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.809T>C	6.37:g.165842162A>G	ENSP00000355847:p.Leu270Pro	Somatic		Capture	SOLID	Phase_I	165762152	NM_006661	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	A	21.0	4.083906	0.76642	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.72615	-0.67;-0.67	5.41	5.41	0.78517	GAF (2);	0.066621	0.64402	D	0.000008	D	0.85691	0.5755	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.977;0.996	D	0.89280	0.3611	10	0.72032	D	0.01	.	15.717	0.77674	1.0:0.0:0.0:0.0	.	280;270	Q9ULW9;Q9Y233	.;PDE10_HUMAN	P	270;298;280;270;269	ENSP00000355847:L270P;ENSP00000346435:L270P	ENSP00000341187:L280P	L	-	2	0	PDE10A	165762152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.316000	0.89985	2.178000	0.69098	0.477000	0.44152	CTA		0.299	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		
EXOC2	55770	hgsc.bcm.edu	37	6	592567	592567	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:592567G>A	ENST00000230449.4	-	11	1229	c.1094C>T	c.(1093-1095)gCg>gTg	p.A365V	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	365					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A365V(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCACCAGACGCATGAAGGTC	0.448																																					p.A365V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1094T	6						.						105.0	90.0	95.0					6																	592567		2203	4300	6503	537567	SO:0001583	missense	55770	exon11			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1094C>T	6.37:g.592567G>A	ENSP00000230449:p.Ala365Val	Somatic		Capture	SOLID	Phase_I	537567	NM_018303	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245407	0.39697	.	.	ENSG00000112685	ENST00000230449	T	0.42131	0.98	5.61	5.61	0.85477	.	0.047829	0.85682	D	0.000000	T	0.16685	0.0401	L	0.47190	1.495	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.14671	-1.0464	10	0.09084	T	0.74	-3.0418	19.627	0.95680	0.0:0.0:1.0:0.0	.	365	Q96KP1	EXOC2_HUMAN	V	365	ENSP00000230449:A365V	ENSP00000230449:A365V	A	-	2	0	EXOC2	537567	1.000000	0.71417	0.018000	0.16275	0.011000	0.07611	9.067000	0.93955	2.632000	0.89209	0.655000	0.94253	GCG		0.448	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303	
RIPK1	8737	hgsc.bcm.edu	37	6	3083444	3083444	+	Silent	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:3083444C>A	ENST00000259808.4	+	5	883	c.585C>A	c.(583-585)ccC>ccA	p.P195P	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Silent_p.P149P|RIPK1_ENST00000380409.2_Silent_p.P195P			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.P195P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACATGGCGCCCGAGCACCTGA	0.498																																					p.P195P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C585A	6						.						117.0	100.0	106.0					6																	3083444		2203	4300	6503	3028443	SO:0001819	synonymous_variant	8737	exon4			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.585C>A	6.37:g.3083444C>A		Somatic		Capture	SOLID	Phase_I	3028443	NM_003804	A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Silent	SNP	ENST00000259808.4	37	CCDS4482.1																																																																																				0.498	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804	
LY86	9450	hgsc.bcm.edu	37	6	6626610	6626610	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:6626610A>G	ENST00000379953.2	+	4	660	c.308A>G	c.(307-309)gAg>gGg	p.E103G	LY86_ENST00000230568.4_Missense_Mutation_p.E103G			O95711	LY86_HUMAN	lymphocyte antigen 86	103					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.E103G(1)		large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CCCATCTGTGAGGCGGCTCTG	0.483																																					p.E103G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A308G	6						.						126.0	119.0	122.0					6																	6626610		2203	4300	6503	6571609	SO:0001583	missense	9450	exon3			AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.308A>G	6.37:g.6626610A>G	ENSP00000369286:p.Glu103Gly	Somatic		Capture	SOLID	Phase_I	6571609	NM_004271	Q9UQC4	Missense_Mutation	SNP	ENST00000379953.2	37	CCDS4498.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.053244	0.55218	.	.	ENSG00000112799	ENST00000379953;ENST00000230568	T;T	0.77358	-1.09;-1.09	5.3	5.3	0.74995	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.290828	0.30060	N	0.010515	T	0.78836	0.4346	L	0.52364	1.645	0.37434	D	0.914148	D	0.89917	1.0	D	0.91635	0.999	T	0.79063	-0.1957	10	0.34782	T	0.22	-28.2157	11.6444	0.51253	1.0:0.0:0.0:0.0	.	103	O95711	LY86_HUMAN	G	103	ENSP00000369286:E103G;ENSP00000230568:E103G	ENSP00000230568:E103G	E	+	2	0	LY86	6571609	1.000000	0.71417	0.935000	0.37517	0.630000	0.37929	3.140000	0.50585	1.997000	0.58415	0.533000	0.62120	GAG		0.483	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039762.2		
TRIM38	10475	hgsc.bcm.edu	37	6	25969574	25969574	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:25969574A>G	ENST00000357085.3	+	4	909	c.433A>G	c.(433-435)Aca>Gca	p.T145A	TRIM38_ENST00000349458.3_Missense_Mutation_p.T145A	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	145					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)	p.T145A(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GAAAGCTGTGACAAAACTGAA	0.398																																					p.T145A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A433G	6						.						92.0	95.0	94.0					6																	25969574		2203	4300	6503	26077553	SO:0001583	missense	10475	exon4			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.433A>G	6.37:g.25969574A>G	ENSP00000349596:p.Thr145Ala	Somatic		Capture	SOLID	Phase_I	26077553	NM_006355	B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	a	6.118	0.389994	0.11581	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.55930	0.49;0.49;0.49	3.95	-4.72	0.03269	.	0.674530	0.12984	N	0.423035	T	0.13072	0.0317	L	0.43757	1.38	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.11329	0.006;0.006	T	0.22906	-1.0203	10	0.20046	T	0.44	.	1.9841	0.03433	0.2991:0.1566:0.3916:0.1528	.	145;145	B2R862;O00635	.;TRI38_HUMAN	A	145	ENSP00000443976:T145A;ENSP00000230099:T145A;ENSP00000349596:T145A	ENSP00000230099:T145A	T	+	1	0	TRIM38	26077553	0.001000	0.12720	0.000000	0.03702	0.542000	0.35054	0.539000	0.23175	-0.949000	0.03663	0.482000	0.46254	ACA		0.398	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2		
ZNF184	7738	hgsc.bcm.edu	37	6	27419811	27419811	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:27419811C>A	ENST00000211936.6	-	6	1811	c.1527G>T	c.(1525-1527)aaG>aaT	p.K509N	ZNF184_ENST00000377419.1_Missense_Mutation_p.K509N	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	509					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.K509N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AACTGAAAGCCTTTCCACATT	0.398																																					p.K509N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1527T	6						.						83.0	81.0	81.0					6																	27419811		2203	4300	6503	27527790	SO:0001583	missense	7738	exon6			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1527G>T	6.37:g.27419811C>A	ENSP00000211936:p.Lys509Asn	Somatic		Capture	SOLID	Phase_I	27527790	NM_007149	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834013	0.50951	.	.	ENSG00000096654	ENST00000211936;ENST00000377419	T;T	0.07908	3.15;3.15	5.27	3.45	0.39498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000081	T	0.19087	0.0458	M	0.91768	3.24	0.33987	D	0.648642	D	0.89917	1.0	D	0.71870	0.975	T	0.05750	-1.0866	10	0.87932	D	0	.	5.2885	0.15714	0.1622:0.6659:0.0:0.172	.	509	Q99676	ZN184_HUMAN	N	509	ENSP00000211936:K509N;ENSP00000366636:K509N	ENSP00000211936:K509N	K	-	3	2	ZNF184	27527790	0.047000	0.20315	1.000000	0.80357	0.999000	0.98932	0.419000	0.21247	1.459000	0.47892	0.655000	0.94253	AAG		0.398	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
ZKSCAN8	7745	hgsc.bcm.edu	37	6	28121043	28121043	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:28121043A>G	ENST00000330236.6	+	6	1169	c.985A>G	c.(985-987)Aaa>Gaa	p.K329E	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.K329E	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	329					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.K329E(1)									TGAATGTGGGAAAAGCTTTGC	0.502																																					p.K329E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A985G	6						.						127.0	125.0	126.0					6																	28121043		2203	4300	6503	28229022	SO:0001583	missense	7745	exon6				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.985A>G	6.37:g.28121043A>G	ENSP00000332750:p.Lys329Glu	Somatic		Capture	SOLID	Phase_I	28229022	NM_006298	A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911696	0.52439	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.07567	3.18;3.18	6.09	6.09	0.99107	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.09992	0.0245	M	0.85710	2.77	0.80722	D	1	B	0.25955	0.138	B	0.27608	0.081	T	0.00931	-1.1510	10	0.72032	D	0.01	.	15.6521	0.77104	1.0:0.0:0.0:0.0	.	329	Q15776	ZN192_HUMAN	E	329	ENSP00000332750:K329E;ENSP00000402948:K329E	ENSP00000332750:K329E	K	+	1	0	ZNF192	28229022	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.706000	0.61845	2.338000	0.79540	0.533000	0.62120	AAA		0.502	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2		
PPP1R10	5514	hgsc.bcm.edu	37	6	30571994	30571994	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:30571994A>G	ENST00000376511.2	-	14	1851	c.1299T>C	c.(1297-1299)gcT>gcC	p.A433A		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	433	Essential for PPP1CA inhibition. {ECO:0000250}.|Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)	p.A433A(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCTCTCGCTTAGCCGCCTCAC	0.527																																					p.A433A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1299C	6						.						84.0	85.0	85.0					6																	30571994		2203	4300	6503	30679973	SO:0001819	synonymous_variant	5514	exon14			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1299T>C	6.37:g.30571994A>G		Somatic		Capture	SOLID	Phase_I	30679973	NM_002714	O00405	Silent	SNP	ENST00000376511.2	37	CCDS4681.1																																																																																				0.527	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714	
ITPR3	3710	hgsc.bcm.edu	37	6	33639962	33639962	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:33639962T>G	ENST00000374316.5	+	23	3945	c.2885T>G	c.(2884-2886)aTt>aGt	p.I962S	ITPR3_ENST00000605930.1_Missense_Mutation_p.I962S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	962					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.I962S(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	AATGAGGACATTGTGGTGATG	0.597																																					p.I962S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2885G	6						.						107.0	95.0	99.0					6																	33639962		2203	4300	6503	33747940	SO:0001583	missense	3710	exon22			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2885T>G	6.37:g.33639962T>G	ENSP00000363435:p.Ile962Ser	Somatic		Capture	SOLID	Phase_I	33747940	NM_002224	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.058148	0.76074	.	.	ENSG00000096433	ENST00000374316	D	0.91686	-2.89	5.45	4.3	0.51218	.	0.203116	0.42682	D	0.000661	D	0.90263	0.6955	M	0.72894	2.215	0.42859	D	0.994104	P	0.49090	0.919	P	0.50754	0.649	D	0.89297	0.3623	10	0.48119	T	0.1	-11.5751	10.4876	0.44731	0.0:0.0772:0.0:0.9228	.	962	Q14573	ITPR3_HUMAN	S	962	ENSP00000363435:I962S	ENSP00000363435:I962S	I	+	2	0	ITPR3	33747940	1.000000	0.71417	0.925000	0.36789	0.995000	0.86356	5.951000	0.70273	0.920000	0.36970	0.528000	0.53228	ATT		0.597	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
TAF11	6882	hgsc.bcm.edu	37	6	34850807	34850807	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:34850807T>C	ENST00000361288.4	-	2	353	c.222A>G	c.(220-222)tcA>tcG	p.S74S	UHRF1BP1_ENST00000452449.2_3'UTR|TAF11_ENST00000420584.2_Silent_p.S74S	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	74					gene expression (GO:0010467)|positive regulation by host of viral transcription (GO:0043923)|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)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)	p.S74S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						TAAGTAATGATGAGTCTTCCC	0.368																																					p.S74S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A222G	6						.						142.0	137.0	139.0					6																	34850807		2203	4300	6503	34958785	SO:0001819	synonymous_variant	6882	exon2			X83928	CCDS4797.1, CCDS59014.1	6p21	2008-02-05	2002-08-29	2001-12-07	ENSG00000064995	ENSG00000064995			11544	protein-coding gene	gene with protein product		600772	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD"""	TAF2I		7729427, 8820923	Standard	NM_005643		Approved	TAFII28	uc003ojw.2	Q15544	OTTHUMG00000014556	ENST00000361288.4:c.222A>G	6.37:g.34850807T>C		Somatic		Capture	SOLID	Phase_I	34958785	NM_005643	B2R8R3|B4DY18|Q9UHS0	Silent	SNP	ENST00000361288.4	37	CCDS4797.1																																																																																				0.368	TAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040259.1	NM_005643	
CMTR1	23070	hgsc.bcm.edu	37	6	37426441	37426441	+	Silent	SNP	C	C	T	rs547318914		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:37426441C>T	ENST00000373451.4	+	9	995	c.831C>T	c.(829-831)tgC>tgT	p.C277C		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	277	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.C277C(1)									CTGATGTCTGCGCAGGCCCAG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19490	0.0		0.0	False		,,,				2504	0.001				p.C277C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C831T	6						.						94.0	83.0	86.0					6																	37426441		2203	4300	6503	37534419	SO:0001819	synonymous_variant	23070	exon9			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.831C>T	6.37:g.37426441C>T		Somatic		Capture	SOLID	Phase_I	37534419	NM_015050	A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	CCDS4835.1																																																																																				0.527	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050	
CCDC167	154467	hgsc.bcm.edu	37	6	37452606	37452606	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:37452606A>G	ENST00000373408.3	-	3	228	c.170T>C	c.(169-171)aTg>aCg	p.M57T		NM_138493.2	NP_612502.1	Q9P0B6	CC167_HUMAN	coiled-coil domain containing 167	57						integral component of membrane (GO:0016021)		p.M57T(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						GGCTTTGTTCATTAGGCTGTT	0.552																																					p.M57T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T170C	6						.						94.0	95.0	95.0					6																	37452606		2203	4300	6503	37560584	SO:0001583	missense	154467	exon3				CCDS34441.1	6p21.2	2011-07-04	2011-07-04	2011-07-04	ENSG00000198937	ENSG00000198937			21239	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 129"""	C6orf129			Standard	NM_138493		Approved	dJ153P14.2	uc003ont.3	Q9P0B6	OTTHUMG00000014625	ENST00000373408.3:c.170T>C	6.37:g.37452606A>G	ENSP00000362507:p.Met57Thr	Somatic		Capture	SOLID	Phase_I	37560584	NM_138493	Q5T7F7|Q9BTQ9	Missense_Mutation	SNP	ENST00000373408.3	37	CCDS34441.1	.	.	.	.	.	.	.	.	.	.	A	1.801	-0.476989	0.04414	.	.	ENSG00000198937	ENST00000373408	.	.	.	5.24	2.8	0.32819	.	.	.	.	.	T	0.04182	0.0116	.	.	.	0.30163	N	0.802028	B	0.16396	0.017	B	0.12156	0.007	T	0.39901	-0.9591	7	0.02654	T	1	.	6.5744	0.22557	0.7593:0.1578:0.083:0.0	.	57	Q9P0B6	CC167_HUMAN	T	57	.	ENSP00000362507:M57T	M	-	2	0	CCDC167	37560584	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.169000	0.50809	2.211000	0.71520	0.454000	0.30748	ATG		0.552	CCDC167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040417.1	NM_138493	
UBR2	23304	hgsc.bcm.edu	37	6	42637958	42637958	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:42637958C>T	ENST00000372899.1	+	35	4268	c.4010C>T	c.(4009-4011)gCg>gTg	p.A1337V	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.A1337V	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1337					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A1337V(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GGTAGCTGCGCGTACACCATC	0.408																																					p.A1337V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4010T	6						.						137.0	117.0	124.0					6																	42637958		2203	4300	6503	42745936	SO:0001583	missense	23304	exon35			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4010C>T	6.37:g.42637958C>T	ENSP00000361990:p.Ala1337Val	Somatic		Capture	SOLID	Phase_I	42745936	NM_015255	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	34	5.291516	0.95546	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.55930	0.49;0.49	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.933	T	0.73300	-0.4026	10	0.62326	D	0.03	-22.7207	19.0937	0.93240	0.0:1.0:0.0:0.0	.	1337;1337	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	V	1337	ENSP00000361990:A1337V;ENSP00000361992:A1337V	ENSP00000361990:A1337V	A	+	2	0	UBR2	42745936	1.000000	0.71417	0.854000	0.33618	0.899000	0.52679	7.487000	0.81328	2.505000	0.84491	0.655000	0.94253	GCG		0.408	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
UBR2	23304	hgsc.bcm.edu	37	6	42644527	42644527	+	Missense_Mutation	SNP	A	A	G	rs200591930		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:42644527A>G	ENST00000372899.1	+	40	4652	c.4394A>G	c.(4393-4395)aAt>aGt	p.N1465S	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.N1465S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1465					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N1465S(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCAGAAGAGAATGGCATGGAT	0.343																																					p.N1465S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4394G	6						.						120.0	112.0	115.0					6																	42644527		2203	4300	6503	42752505	SO:0001583	missense	23304	exon40			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4394A>G	6.37:g.42644527A>G	ENSP00000361990:p.Asn1465Ser	Somatic		Capture	SOLID	Phase_I	42752505	NM_015255	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	A	5.219	0.225878	0.09916	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.47528	0.84;0.84	4.53	3.37	0.38596	.	0.458350	0.25631	N	0.029346	T	0.13286	0.0322	L	0.35414	1.06	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.15752	-1.0426	10	0.05959	T	0.93	-17.3317	10.123	0.42632	0.92:0.0:0.08:0.0	.	1465;1465	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	S	1465	ENSP00000361990:N1465S;ENSP00000361992:N1465S	ENSP00000361990:N1465S	N	+	2	0	UBR2	42752505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.681000	0.54648	0.704000	0.31869	0.528000	0.53228	AAT		0.343	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
IL17F	112744	hgsc.bcm.edu	37	6	52101838	52101838	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:52101838A>G	ENST00000336123.4	-	3	490	c.383T>C	c.(382-384)cTg>cCg	p.L128P		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	128					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)	p.L128P(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					CCGGACGACCAGGGTCTCTTG	0.542																																					p.L128P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T383C	6						.						93.0	86.0	88.0					6																	52101838		2203	4300	6503	52209797	SO:0001583	missense	112744	exon3			AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.383T>C	6.37:g.52101838A>G	ENSP00000337432:p.Leu128Pro	Somatic		Capture	SOLID	Phase_I	52209797	NM_052872	Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	ENST00000336123.4	37	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.856648	0.71834	.	.	ENSG00000112116	ENST00000336123	T	0.57107	0.42	5.72	5.72	0.89469	.	0.078146	0.52532	D	0.000074	T	0.60663	0.2286	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60203	-0.7309	10	0.33940	T	0.23	-21.6586	13.9726	0.64250	1.0:0.0:0.0:0.0	.	128	Q96PD4	IL17F_HUMAN	P	128	ENSP00000337432:L128P	ENSP00000337432:L128P	L	-	2	0	IL17F	52209797	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	5.400000	0.66320	2.194000	0.70268	0.533000	0.62120	CTG		0.542	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872	
EYS	346007	hgsc.bcm.edu	37	6	66205183	66205183	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:66205183C>T	ENST00000370621.3	-	4	647	c.121G>A	c.(121-123)Gta>Ata	p.V41I	EYS_ENST00000370618.3_Missense_Mutation_p.V41I|EYS_ENST00000342421.5_Missense_Mutation_p.V41I|EYS_ENST00000503581.1_Missense_Mutation_p.V41I|EYS_ENST00000370616.2_Missense_Mutation_p.V41I|EYS_ENST00000393380.2_Missense_Mutation_p.V41I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	41					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.V41I(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						GTCCAATTTACCACATATGAT	0.398																																					p.V41I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G121A	6						.						109.0	108.0	108.0					6																	66205183		2203	4300	6503	66261904	SO:0001583	missense	346007	exon3				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.121G>A	6.37:g.66205183C>T	ENSP00000359655:p.Val41Ile	Somatic		Capture	SOLID	Phase_I	66261904	NM_198283	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	C	15.40	2.822861	0.50739	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.90324	-1.71;-1.7;-1.7;-2.65;-2.6;-2.6	4.25	2.43	0.29744	.	.	.	.	.	T	0.64204	0.2577	N	0.19112	0.55	0.09310	N	0.999999	B;P;P	0.42203	0.15;0.773;0.663	B;B;B	0.35353	0.126;0.201;0.099	T	0.56589	-0.7954	9	0.20519	T	0.43	.	6.8165	0.23833	0.0:0.6925:0.0:0.3075	.	41;41;41	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	41	ENSP00000424243:V41I;ENSP00000359655:V41I;ENSP00000359650:V41I;ENSP00000377042:V41I;ENSP00000341818:V41I;ENSP00000359652:V41I	ENSP00000341818:V41I	V	-	1	0	EYS	66261904	0.042000	0.20092	0.065000	0.19835	0.663000	0.39108	0.406000	0.21032	0.345000	0.23873	0.591000	0.81541	GTA		0.398	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
KCNQ5	56479	hgsc.bcm.edu	37	6	73904470	73904470	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:73904470G>C	ENST00000370398.1	+	14	2241	c.2132G>C	c.(2131-2133)aGt>aCt	p.S711T	KCNQ5_ENST00000355635.3_Missense_Mutation_p.S712T|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S711T|KCNQ5_ENST00000342056.2_Missense_Mutation_p.S730T|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S702T|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S721T|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S601T	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	711					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.S711T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ACTATGCACAGTCAAGCAACA	0.512																																					p.S730T	GBM(142;1375 1859 14391 23261 44706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2189C	6						.						128.0	126.0	127.0					6																	73904470		2203	4300	6503	73961191	SO:0001583	missense	56479	exon15			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2132G>C	6.37:g.73904470G>C	ENSP00000359425:p.Ser711Thr	Somatic		Capture	SOLID	Phase_I	73961191	NM_001160133	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829323	0.32329	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99445	-5.66;-5.67;-5.67;-5.65;-5.67;-5.71;-5.91	5.07	4.2	0.49525	.	0.118799	0.64402	D	0.000020	D	0.98267	0.9426	L	0.54323	1.7	0.24982	N	0.991598	P;B;B;D;B	0.53885	0.94;0.191;0.004;0.963;0.226	P;B;B;P;B	0.53224	0.546;0.069;0.009;0.721;0.039	D	0.96368	0.9271	10	0.27082	T	0.32	.	13.248	0.60033	0.0772:0.0:0.9228:0.0	.	601;721;730;702;711	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	T	730;730;711;711;721;712;702;601	ENSP00000345055:S730T;ENSP00000347326:S711T;ENSP00000359425:S711T;ENSP00000385501:S721T;ENSP00000347853:S712T;ENSP00000384453:S702T;ENSP00000409861:S601T	ENSP00000345055:S730T	S	+	2	0	KCNQ5	73961191	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	6.268000	0.72552	1.136000	0.42199	0.561000	0.74099	AGT		0.512	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
FILIP1	27145	hgsc.bcm.edu	37	6	76072533	76072533	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:76072533A>G	ENST00000237172.7	-	3	707	c.377T>C	c.(376-378)gTc>gCc	p.V126A	RP11-415D17.3_ENST00000591821.2_RNA|FILIP1_ENST00000370020.1_Missense_Mutation_p.V27A|RP11-415D17.3_ENST00000419709.1_RNA|RP11-415D17.3_ENST00000588761.1_RNA|RP11-415D17.3_ENST00000609544.1_RNA|RP11-415D17.3_ENST00000440220.1_RNA|FILIP1_ENST00000393004.2_Missense_Mutation_p.V126A|RP11-415D17.3_ENST00000415457.2_RNA	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	126								p.V126A(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						TCGGTGCAGGACCCGCAGCAC	0.502																																					p.V126A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T377C	6						.						121.0	120.0	120.0					6																	76072533		2203	4300	6503	76129253	SO:0001583	missense	27145	exon3			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.377T>C	6.37:g.76072533A>G	ENSP00000237172:p.Val126Ala	Somatic		Capture	SOLID	Phase_I	76129253	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	A	5.521	0.281105	0.10458	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.30182	1.54;1.54;1.54	5.99	4.84	0.62591	Cortactin-binding protein-2, N-terminal (1);	0.410201	0.26631	N	0.023307	T	0.01835	0.0058	N	0.00151	-1.98	0.34767	D	0.733331	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.42310	-0.9459	10	0.02654	T	1	-1.8043	11.5561	0.50748	0.9311:0.0:0.0689:0.0	.	126;126;126	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	A	126;126;27	ENSP00000376728:V126A;ENSP00000237172:V126A;ENSP00000359037:V27A	ENSP00000237172:V126A	V	-	2	0	FILIP1	76129253	1.000000	0.71417	0.857000	0.33713	0.789000	0.44602	4.771000	0.62318	2.291000	0.77112	0.533000	0.62120	GTC		0.502	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
PHIP	55023	hgsc.bcm.edu	37	6	79707161	79707161	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:79707161A>G	ENST00000275034.4	-	19	2338	c.2171T>C	c.(2170-2172)gTa>gCa	p.V724A		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	724					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.V724A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTCGGGTACTACCACCCTTCG	0.473																																					p.V724A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2171C	6						.						190.0	165.0	173.0					6																	79707161		2203	4300	6503	79763880	SO:0001583	missense	55023	exon19			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2171T>C	6.37:g.79707161A>G	ENSP00000275034:p.Val724Ala	Somatic		Capture	SOLID	Phase_I	79763880	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.312681	0.81358	.	.	ENSG00000146247	ENST00000275034	T	0.28454	1.61	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000015	T	0.24275	0.0588	M	0.79011	2.435	0.51767	D	0.999938	P;P	0.38767	0.646;0.646	B;B	0.38194	0.267;0.267	T	0.07083	-1.0791	9	.	.	.	-14.2027	13.8047	0.63223	1.0:0.0:0.0:0.0	.	724;724	A7J992;Q8WWQ0	.;PHIP_HUMAN	A	724	ENSP00000275034:V724A	.	V	-	2	0	PHIP	79763880	1.000000	0.71417	0.999000	0.59377	0.599000	0.36880	8.962000	0.93254	1.836000	0.53414	0.533000	0.62120	GTA		0.473	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
SNX14	57231	hgsc.bcm.edu	37	6	86253374	86253374	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:86253374T>C	ENST00000314673.3	-	13	1389	c.1213A>G	c.(1213-1215)Agt>Ggt	p.S405G	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.S361G|SNX14_ENST00000513865.1_Missense_Mutation_p.S405G|SNX14_ENST00000369627.2_Missense_Mutation_p.S405G|SNX14_ENST00000505648.1_Missense_Mutation_p.S353G	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	405	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)	p.S405G(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTGTCAATACTTTCATCCAAA	0.289																																					p.S361G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1081G	6						.						49.0	49.0	49.0					6																	86253374		2199	4290	6489	86310093	SO:0001583	missense	57231	exon11			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1213A>G	6.37:g.86253374T>C	ENSP00000313121:p.Ser405Gly	Somatic		Capture	SOLID	Phase_I	86310093	NM_020468	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.244811	0.79912	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	5.72	5.72	0.89469	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	M	0.64997	1.995	0.80722	D	1	P;D;D;P	0.71674	0.708;0.998;0.97;0.812	B;D;P;P	0.63877	0.332;0.919;0.895;0.482	T	0.27468	-1.0073	10	0.72032	D	0.01	-15.3312	15.9979	0.80265	0.0:0.0:0.0:1.0	.	405;361;405;353	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	G	361;405;405;353;405;332	ENSP00000257769:S361G;ENSP00000313121:S405G;ENSP00000420938:S405G;ENSP00000427380:S353G;ENSP00000358641:S405G;ENSP00000425630:S332G	ENSP00000313121:S405G	S	-	1	0	SNX14	86310093	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.483000	0.81158	2.183000	0.69458	0.383000	0.25322	AGT		0.289	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816	
KLHL32	114792	hgsc.bcm.edu	37	6	97512568	97512568	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:97512568A>G	ENST00000369261.4	+	5	740	c.377A>G	c.(376-378)gAg>gGg	p.E126G	KLHL32_ENST00000539200.1_Intron|KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Missense_Mutation_p.E90G	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	126								p.E126G(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)		CAGCTGTTGGAGCTTCTCAAT	0.463																																					p.E126G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A377G	6						.						143.0	107.0	119.0					6																	97512568		2203	4300	6503	97619289	SO:0001583	missense	114792	exon5			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.377A>G	6.37:g.97512568A>G	ENSP00000358265:p.Glu126Gly	Somatic		Capture	SOLID	Phase_I	97619289	NM_052904	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.926409	0.92319	.	.	ENSG00000186231	ENST00000369255;ENST00000369261;ENST00000536676;ENST00000369254;ENST00000447886	T;T;T;T	0.67345	-0.26;1.97;-0.26;1.79	5.54	5.54	0.83059	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	N	0.16166	0.38	0.80722	D	1	D;B;D	0.58620	0.981;0.017;0.983	D;B;P	0.67900	0.954;0.061;0.874	T	0.59637	-0.7417	10	0.23891	T	0.37	.	15.8453	0.78883	1.0:0.0:0.0:0.0	.	90;126;126	B7Z346;Q96NJ5;Q6IQ08	.;KLH32_HUMAN;.	G	52;126;90;126;22	ENSP00000358265:E126G;ENSP00000440382:E90G;ENSP00000358258:E126G;ENSP00000389310:E22G	ENSP00000358258:E126G	E	+	2	0	KLHL32	97619289	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.253000	0.89842	2.330000	0.79161	0.528000	0.53228	GAG		0.463	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904	
PHF10	55274	hgsc.bcm.edu	37	6	170112613	170112613	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr6:170112613A>G	ENST00000339209.4	-	8	949	c.826T>C	c.(826-828)Tat>Cat	p.Y276H	PHF10_ENST00000366780.4_Missense_Mutation_p.Y274H	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	276	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)	p.Y188H(1)		endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		AATGGCAGATACCGCAGCTCA	0.443																																					p.Y276H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T826C	6						.						122.0	119.0	120.0					6																	170112613		2203	4300	6503	169854538	SO:0001583	missense	55274	exon8			AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.826T>C	6.37:g.170112613A>G	ENSP00000341805:p.Tyr276His	Somatic		Capture	SOLID	Phase_I	169854538	NM_018288	Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	A	24.4	4.531143	0.85706	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.89939	-2.58;-2.59	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.92961	0.7760	M	0.76328	2.33	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.996;0.998;0.952	D	0.94001	0.7275	10	0.87932	D	0	-22.5671	14.8138	0.70017	1.0:0.0:0.0:0.0	.	188;274;276	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	H	274;276	ENSP00000355743:Y274H;ENSP00000341805:Y276H	ENSP00000341805:Y276H	Y	-	1	0	PHF10	169854538	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	8.624000	0.90961	2.160000	0.67779	0.477000	0.44152	TAT		0.443	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288	
INPP5K	51763	hgsc.bcm.edu	37	17	1401274	1401274	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:1401274C>T	ENST00000421807.2	-	8	1307	c.919G>A	c.(919-921)Ggc>Agc	p.G307S	INPP5K_ENST00000397335.3_Missense_Mutation_p.G215S|INPP5K_ENST00000542125.1_Missense_Mutation_p.G211S|INPP5K_ENST00000406424.4_Missense_Mutation_p.G231S|INPP5K_ENST00000320345.6_Missense_Mutation_p.G231S	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	307	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)	p.G231S(1)|p.G307S(1)		endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TCGCTGATGCCGTACGTCATG	0.607																																					p.G307S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G919A	17						.						153.0	135.0	141.0					17																	1401274		2203	4300	6503	1348024	SO:0001583	missense	51763	exon8				CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.919G>A	17.37:g.1401274C>T	ENSP00000413937:p.Gly307Ser	Somatic		Capture	SOLID	Phase_I	1348024	NM_016532	B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Missense_Mutation	SNP	ENST00000421807.2	37	CCDS11004.1	.	.	.	.	.	.	.	.	.	.	C	1.718	-0.497342	0.04291	.	.	ENSG00000132376	ENST00000421807;ENST00000406424;ENST00000350761;ENST00000320345;ENST00000397335;ENST00000542125;ENST00000449479	D;D;D;T;D	0.95137	-3.62;-3.62;-3.62;0.92;-3.62	5.78	-3.0	0.05480	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	1.192230	0.05492	N	0.556913	T	0.81927	0.4926	N	0.04705	-0.18	0.27481	N	0.952563	B;B	0.06786	0.001;0.0	B;B	0.09377	0.001;0.004	T	0.72769	-0.4193	10	0.13470	T	0.59	-0.3598	0.5478	0.00657	0.3971:0.146:0.2184:0.2385	.	211;307	F5GXZ0;Q9BT40	.;INP5K_HUMAN	S	231;231;307;231;215;211;215	ENSP00000385177:G231S;ENSP00000318476:G231S;ENSP00000380496:G215S;ENSP00000440147:G211S;ENSP00000413259:G215S	ENSP00000318476:G231S	G	-	1	0	INPP5K	1348024	0.073000	0.21202	0.683000	0.30040	0.047000	0.14425	0.153000	0.16323	-0.380000	0.07894	-1.108000	0.02087	GGC		0.607	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4		
PRPF8	10594	hgsc.bcm.edu	37	17	1585162	1585162	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:1585162G>T	ENST00000572621.1	-	4	870	c.605C>A	c.(604-606)cCt>cAt	p.P202H	PRPF8_ENST00000304992.6_Missense_Mutation_p.P202H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	202					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.P202H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTCCAACACAGGGGCGTCCTC	0.532																																					p.P202H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C605A	17						.						96.0	101.0	100.0					17																	1585162		2203	4300	6503	1531912	SO:0001583	missense	10594	exon5			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.605C>A	17.37:g.1585162G>T	ENSP00000460348:p.Pro202His	Somatic		Capture	SOLID	Phase_I	1531912	NM_006445	O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799301	0.70567	.	.	ENSG00000174231	ENST00000304992	T	0.41758	0.99	5.7	5.7	0.88788	Pre-mRNA-processing-splicing factor 8 (2);	0.052427	0.85682	D	0.000000	T	0.41050	0.1142	L	0.47716	1.5	0.58432	D	0.999999	B	0.02656	0.0	B	0.08055	0.003	T	0.12426	-1.0548	10	0.30854	T	0.27	.	19.8379	0.96666	0.0:0.0:1.0:0.0	.	202	Q6P2Q9	PRP8_HUMAN	H	202	ENSP00000304350:P202H	ENSP00000304350:P202H	P	-	2	0	PRPF8	1531912	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.835000	0.99442	2.694000	0.91930	0.555000	0.69702	CCT		0.532	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		
DNAH9	1770	hgsc.bcm.edu	37	17	11778337	11778337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:11778337G>A	ENST00000262442.4	+	53	10382	c.10314G>A	c.(10312-10314)tgG>tgA	p.W3438*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.W3438*|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3438	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.W3438*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGCTGCCTGGCAGAACGAGG	0.592																																					p.W3438X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G10314A	17						.						102.0	91.0	95.0					17																	11778337		2203	4300	6503	11719062	SO:0001587	stop_gained	1770	exon53			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10314G>A	17.37:g.11778337G>A	ENSP00000262442:p.Trp3438*	Somatic		Capture	SOLID	Phase_I	11719062	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	52	19.111239	0.99915	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	4.51	4.51	0.55191	.	0.139447	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4107	0.87485	0.0:0.0:1.0:0.0	.	.	.	.	X	3438;3438;2020	.	ENSP00000262442:W3438X	W	+	3	0	DNAH9	11719062	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.601000	0.98297	2.357000	0.79964	0.655000	0.94253	TGG		0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
B9D1	27077	hgsc.bcm.edu	37	17	19247157	19247157	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:19247157G>A	ENST00000261499.4	-	6	561	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	MIR1180_ENST00000408613.1_RNA|B9D1_ENST00000575403.1_Silent_p.G115G|B9D1_ENST00000461069.2_Missense_Mutation_p.R140W|B9D1_ENST00000395615.1_Missense_Mutation_p.R140W|B9D1_ENST00000477478.2_Silent_p.G115G|B9D1_ENST00000395616.3_Missense_Mutation_p.R140W	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	140					camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)	p.R140W(1)		large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TCGGGCCGCCGCCCCATGAAC	0.617																																					p.R140W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C418T	17						.						47.0	52.0	51.0					17																	19247157		2203	4300	6503	19187750	SO:0001583	missense	27077	exon6			BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"""endothelial precursor protein B9"""	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.418C>T	17.37:g.19247157G>A	ENSP00000261499:p.Arg140Trp	Somatic		Capture	SOLID	Phase_I	19187750	NM_015681	Q9BU22	Missense_Mutation	SNP	ENST00000261499.4	37	CCDS11205.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979830	0.74360	.	.	ENSG00000108641	ENST00000395615;ENST00000261499;ENST00000395616	T;T;T	0.70631	-0.5;-0.5;-0.5	4.72	4.72	0.59763	.	0.232405	0.42682	D	0.000676	D	0.84566	0.5500	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.86433	0.1762	10	0.66056	D	0.02	.	10.5789	0.45244	0.0:0.0:0.7525:0.2475	.	140	Q9UPM9	B9D1_HUMAN	W	140	ENSP00000378977:R140W;ENSP00000261499:R140W;ENSP00000378978:R140W	ENSP00000261499:R140W	R	-	1	2	B9D1	19187750	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.561000	0.60809	2.447000	0.82792	0.549000	0.68633	CGG		0.617	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132494.1	NM_015681	
ALDH3A2	224	hgsc.bcm.edu	37	17	19566754	19566754	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:19566754A>G	ENST00000176643.6	+	7	1495	c.1049A>G	c.(1048-1050)aAt>aGt	p.N350S	ALDH3A2_ENST00000571163.1_Missense_Mutation_p.N23S|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.N350S|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.N350S|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.N350S|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.N350S|SNORA31_ENST00000516540.1_RNA			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	350					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)	p.N350S(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					GAGGCCATAAATTTCATAAAT	0.373																																					p.N350S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1049G	17						.						113.0	109.0	110.0					17																	19566754		2203	4300	6503	19507346	SO:0001583	missense	224	exon7			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.1049A>G	17.37:g.19566754A>G	ENSP00000176643:p.Asn350Ser	Somatic		Capture	SOLID	Phase_I	19507346	NM_000382	Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	A	8.004	0.756134	0.15846	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	D;D;D	0.84070	-1.8;-1.8;-1.8	5.12	2.92	0.33932	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	1.232680	0.05291	N	0.521199	T	0.70325	0.3211	N	0.05534	-0.03	0.09310	N	1	B;B	0.19331	0.018;0.035	B;B	0.25987	0.065;0.039	T	0.57283	-0.7838	10	0.32370	T	0.25	-0.1803	8.5962	0.33716	0.8433:0.0:0.1567:0.0	.	350;350	P51648;P51648-2	AL3A2_HUMAN;.	S	350	ENSP00000176643:N350S;ENSP00000378942:N350S;ENSP00000345774:N350S	ENSP00000176643:N350S	N	+	2	0	ALDH3A2	19507346	0.000000	0.05858	0.003000	0.11579	0.889000	0.51656	0.475000	0.22164	0.305000	0.22832	0.455000	0.32223	AAT		0.373	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1		
SUPT6H	6830	hgsc.bcm.edu	37	17	27002443	27002443	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:27002443A>G	ENST00000314616.6	+	6	846	c.563A>G	c.(562-564)gAt>gGt	p.D188G	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D188G|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	188	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D188G(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ATTGTGGATGATGATGGACAG	0.488																																					p.D188G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A563G	17						.						108.0	101.0	103.0					17																	27002443		2203	4300	6503	24026570	SO:0001583	missense	6830	exon6			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.563A>G	17.37:g.27002443A>G	ENSP00000319104:p.Asp188Gly	Somatic		Capture	SOLID	Phase_I	24026570	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374959	0.82573	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.8	5.8	0.92144	.	0.049232	0.85682	N	0.000000	T	0.78666	0.4319	M	0.73430	2.235	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.81086	-0.1092	9	0.72032	D	0.01	-23.801	16.1606	0.81704	1.0:0.0:0.0:0.0	.	188	Q7KZ85	SPT6H_HUMAN	G	188	.	ENSP00000319104:D188G	D	+	2	0	SUPT6H	24026570	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.471000	0.90403	2.227000	0.72691	0.460000	0.39030	GAT		0.488	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	
SUPT6H	6830	hgsc.bcm.edu	37	17	27011880	27011880	+	Silent	SNP	C	C	T	rs377164638		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:27011880C>T	ENST00000314616.6	+	19	2671	c.2388C>T	c.(2386-2388)tgC>tgT	p.C796C	SUPT6H_ENST00000347486.4_Silent_p.C796C	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	796	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C796C(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CTGTGTTCTGCGCCCTGGTCA	0.448																																					p.C796C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2388T	17						.	C		0,4406		0,0,2203	98.0	90.0	93.0		2388	-3.1	1.0	17		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SUPT6H	NM_003170.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		796/1727	27011880	1,13005	2203	4300	6503	24036007	SO:0001819	synonymous_variant	6830	exon19			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2388C>T	17.37:g.27011880C>T		Somatic		Capture	SOLID	Phase_I	24036007	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	CCDS32596.1																																																																																				0.448	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	
LIG3	3980	hgsc.bcm.edu	37	17	33319684	33319684	+	Silent	SNP	G	G	A	rs375626260		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:33319684G>A	ENST00000378526.4	+	8	1561	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	LIG3_ENST00000262327.5_Silent_p.S476S	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	476					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.S476S(1)|p.S389S(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)	TCCAGGCCTCGCTGATGACAC	0.622								Other BER factors																													p.S476S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1428A	17						.	G	,	0,4406		0,0,2203	54.0	46.0	49.0		1428,1428	-11.0	0.6	17		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LIG3	NM_002311.4,NM_013975.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	476/950,476/1010	33319684	1,13005	2203	4300	6503	30343797	SO:0001819	synonymous_variant	3980	exon8				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.1428G>A	17.37:g.33319684G>A		Somatic		Capture	SOLID	Phase_I	30343797	NM_013975	Q16714|Q6NVK3	Silent	SNP	ENST00000378526.4	37	CCDS11284.2																																																																																				0.622	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975	
RAD51D	5892	hgsc.bcm.edu	37	17	33428237	33428237	+	Missense_Mutation	SNP	C	C	T	rs374019782		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:33428237C>T	ENST00000345365.6	-	9	1141	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.A137T|RAD51D_ENST00000335858.7_Missense_Mutation_p.A184T|RAD51D_ENST00000590016.1_Missense_Mutation_p.A316T|RAD51D_ENST00000394589.4_Missense_Mutation_p.A296T|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000360276.3_Missense_Mutation_p.A251T|RAD51D_ENST00000460118.2_Missense_Mutation_p.A177T	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	296					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)	p.A296T(1)|p.A184T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GAAGATTTGGCCAGACACGCC	0.607								Direct reversal of damage																													p.A296T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G886A	17						.						71.0	75.0	74.0					17																	33428237		2203	4300	6503	30452350	SO:0001583	missense	5892	exon9			AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.886G>A	17.37:g.33428237C>T	ENSP00000338790:p.Ala296Thr	Somatic		Capture	SOLID	Phase_I	30452350	NM_002878	B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Missense_Mutation	SNP	ENST00000345365.6	37	CCDS11287.1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881574	0.17467	.	.	ENSG00000185379	ENST00000345365;ENST00000394589;ENST00000335858;ENST00000360276;ENST00000345766	T;T	0.66280	-0.2;-0.2	4.86	3.78	0.43462	.	0.445177	0.28021	N	0.016912	T	0.34832	0.0911	N	0.05259	-0.085	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.08055	0.002;0.002;0.003;0.001	T	0.07809	-1.0753	10	0.21540	T	0.41	-1.3634	6.6343	0.22874	0.0:0.1852:0.0:0.8148	.	316;184;296;296	B4DJU7;O75771-3;O75771;F8W8E6	.;.;RA51D_HUMAN;.	T	296;316;296;251;184	ENSP00000338790:A296T;ENSP00000353417:A251T	ENSP00000338408:A296T	A	-	1	0	RAD51D	30452350	0.998000	0.40836	0.998000	0.56505	0.241000	0.25554	1.789000	0.38724	0.973000	0.38340	-0.294000	0.09567	GCC		0.607	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878	
SLFN5	162394	hgsc.bcm.edu	37	17	33591783	33591783	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:33591783T>A	ENST00000299977.4	+	4	1868	c.1720T>A	c.(1720-1722)Ttg>Atg	p.L574M	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	574					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L574M(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GACCAGAGAGTTGTTTGTTCA	0.428																																					p.L574M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1720A	17						.						208.0	197.0	201.0					17																	33591783		2203	4300	6503	30615896	SO:0001583	missense	162394	exon4			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1720T>A	17.37:g.33591783T>A	ENSP00000299977:p.Leu574Met	Somatic		Capture	SOLID	Phase_I	30615896	NM_144975	Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	t	9.333	1.060977	0.19987	.	.	ENSG00000166750	ENST00000299977	T	0.32515	1.45	3.28	-2.74	0.05932	Domain of unknown function DUF2075 (1);	0.279818	0.18994	N	0.125534	T	0.29588	0.0738	M	0.64080	1.96	0.58432	D	0.999999	D	0.63046	0.992	P	0.49829	0.623	T	0.22138	-1.0225	10	0.51188	T	0.08	.	3.5614	0.07884	0.1897:0.2917:0.0:0.5186	.	574	Q08AF3	SLFN5_HUMAN	M	574	ENSP00000299977:L574M	ENSP00000299977:L574M	L	+	1	2	SLFN5	30615896	0.000000	0.05858	0.765000	0.31456	0.479000	0.33129	-0.892000	0.04131	-0.405000	0.07599	-0.242000	0.12053	TTG		0.428	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975	
SLFN13	146857	hgsc.bcm.edu	37	17	33771643	33771643	+	Missense_Mutation	SNP	C	C	T	rs541429130		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:33771643C>T	ENST00000285013.6	-	3	1332	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	SLFN13_ENST00000542635.1_Missense_Mutation_p.A353T|SLFN13_ENST00000534689.1_Missense_Mutation_p.A35T|SLFN13_ENST00000360502.2_Missense_Mutation_p.A35T|SLFN13_ENST00000526861.1_Missense_Mutation_p.A353T|SLFN13_ENST00000533791.1_Missense_Mutation_p.A353T	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	353						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.A353T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCTGGATCTGCGTCCATCATT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19266	0.001		0.0	False		,,,				2504	0.0				p.A353T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1057A	17						.						97.0	86.0	90.0					17																	33771643		2203	4300	6503	30795756	SO:0001583	missense	146857	exon3			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1057G>A	17.37:g.33771643C>T	ENSP00000285013:p.Ala353Thr	Somatic		Capture	SOLID	Phase_I	30795756	NM_144682	E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	c	1.655	-0.512999	0.04200	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689;ENST00000532210	T;T;T;T;T;T	0.59364	0.27;3.94;0.27;0.27;3.94;2.29	3.54	-7.07	0.01563	.	2.368480	0.02398	N	0.080417	T	0.21307	0.0513	N	0.01640	-0.785	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.24190	-1.0167	10	0.10636	T	0.68	.	2.0898	0.03654	0.1168:0.3752:0.2597:0.2484	.	35;353	Q68D06-2;Q68D06	.;SLN13_HUMAN	T	353;35;353;353;35;22	ENSP00000285013:A353T;ENSP00000353692:A35T;ENSP00000434439:A353T;ENSP00000444016:A353T;ENSP00000435442:A35T;ENSP00000435328:A22T	ENSP00000285013:A353T	A	-	1	0	SLFN13	30795756	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.030000	0.00638	-2.673000	0.00413	-0.414000	0.06135	GCA		0.488	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682	
KRT25	147183	hgsc.bcm.edu	37	17	38907500	38907500	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:38907500C>T	ENST00000312150.4	-	4	808	c.748G>A	c.(748-750)Gtt>Att	p.V250I		NM_181534.3	NP_853512.1			keratin 25									p.V250I(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTCAGCAGAACTGTGAGGTCC	0.572																																					p.V250I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G748A	17						.						98.0	86.0	90.0					17																	38907500		2203	4300	6503	36161026	SO:0001583	missense	147183	exon4			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.748G>A	17.37:g.38907500C>T	ENSP00000310573:p.Val250Ile	Somatic		Capture	SOLID	Phase_I	36161026	NM_181534		Missense_Mutation	SNP	ENST00000312150.4	37	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	9.512	1.106116	0.20632	.	.	ENSG00000204897	ENST00000312150	D	0.88741	-2.42	5.84	-3.46	0.04767	Filament (1);	0.355857	0.23926	N	0.043181	D	0.82554	0.5062	M	0.71581	2.175	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.71140	-0.4679	10	0.66056	D	0.02	.	2.5034	0.04639	0.0966:0.2578:0.3131:0.3324	.	250	Q7Z3Z0	K1C25_HUMAN	I	250	ENSP00000310573:V250I	ENSP00000310573:V250I	V	-	1	0	KRT25	36161026	0.000000	0.05858	0.001000	0.08648	0.266000	0.26442	-0.052000	0.11865	-0.334000	0.08463	-0.794000	0.03295	GTT		0.572	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534	
CAMKK1	84254	hgsc.bcm.edu	37	17	3775897	3775897	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:3775897G>T	ENST00000348335.2	-	12	1223	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M	CAMKK1_ENST00000381769.2_Missense_Mutation_p.L386M|CAMKK1_ENST00000381771.2_Missense_Mutation_p.L397M|CAMKK1_ENST00000158166.5_Missense_Mutation_p.L397M	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.L359M(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TGGAGGGCCAGGATGAAATCG	0.602																																					p.L359M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1075A	17						.						111.0	97.0	102.0					17																	3775897		2203	4300	6503	3722646	SO:0001583	missense	84254	exon12			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.1075C>A	17.37:g.3775897G>T	ENSP00000323118:p.Leu359Met	Somatic		Capture	SOLID	Phase_I	3722646	NM_032294	Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837050	0.50951	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.24	5.24	0.73138	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	0.000005	T	0.62011	0.2393	L	0.35593	1.075	0.52099	D	0.999946	P;B	0.36633	0.562;0.443	B;B	0.44044	0.439;0.3	T	0.55872	-0.8072	10	0.10377	T	0.69	-14.5669	17.8328	0.88687	0.0:0.0:1.0:0.0	.	397;359	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	M	386;359;397;397	ENSP00000371188:L386M;ENSP00000323118:L359M;ENSP00000371190:L397M;ENSP00000158166:L397M	ENSP00000158166:L397M	L	-	1	2	CAMKK1	3722646	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.350000	0.59392	2.458000	0.83093	0.650000	0.86243	CTG		0.602	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207	
HAP1	9001	hgsc.bcm.edu	37	17	39888333	39888333	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:39888333T>G	ENST00000310778.5	-	4	761	c.752A>C	c.(751-753)gAg>gCg	p.E251A	HAP1_ENST00000393939.2_Missense_Mutation_p.E251A|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.E259A|HAP1_ENST00000347901.4_Missense_Mutation_p.E251A|RN7SL399P_ENST00000471648.2_RNA			P54257	HAP1_HUMAN	huntingtin-associated protein 1	251	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.E251A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTGGAGGAGCTCATCCCGCAA	0.527																																					p.E251A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A752C	17						.						94.0	94.0	94.0					17																	39888333		2203	4300	6503	37141859	SO:0001583	missense	9001	exon4			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.752A>C	17.37:g.39888333T>G	ENSP00000309392:p.Glu251Ala	Somatic		Capture	SOLID	Phase_I	37141859	NM_001079871	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37		.	.	.	.	.	.	.	.	.	.	T	11.88	1.769923	0.31320	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	3.46	3.46	0.39613	.	0.346136	0.20970	N	0.082405	T	0.21468	0.0517	L	0.31476	0.935	0.30070	N	0.810099	B;B;B;B	0.30605	0.058;0.287;0.058;0.08	B;B;B;B	0.31686	0.051;0.074;0.051;0.134	T	0.13495	-1.0507	10	0.48119	T	0.1	-10.9211	8.5133	0.33231	0.0:0.0:0.0:1.0	.	251;259;251;251	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	A	251;251;251;259	ENSP00000377513:E251A;ENSP00000309392:E251A;ENSP00000334002:E251A;ENSP00000343170:E259A	ENSP00000309392:E251A	E	-	2	0	HAP1	37141859	1.000000	0.71417	0.921000	0.36526	0.467000	0.32768	4.498000	0.60373	1.570000	0.49709	0.459000	0.35465	GAG		0.527	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949	
STAT5B	6777	hgsc.bcm.edu	37	17	40368068	40368068	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:40368068C>T	ENST00000293328.3	-	12	1605	c.1437G>A	c.(1435-1437)acG>acA	p.T479T		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	479					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.T479T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GAACAGTGGCCGTCGCATTGT	0.527																																					p.T479T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1437A	17						.						99.0	74.0	82.0					17																	40368068		2203	4300	6503	37621594	SO:0001819	synonymous_variant	6777	exon12			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1437G>A	17.37:g.40368068C>T		Somatic		Capture	SOLID	Phase_I	37621594	NM_012448	Q8WWS8	Silent	SNP	ENST00000293328.3	37	CCDS11423.1																																																																																				0.527	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448	
MLX	6945	hgsc.bcm.edu	37	17	40722131	40722131	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:40722131T>G	ENST00000246912.4	+	7	823	c.770T>G	c.(769-771)aTc>aGc	p.I257S	MLX_ENST00000435881.2_Missense_Mutation_p.I203S|MLX_ENST00000346833.4_Missense_Mutation_p.I173S	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	257					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.I257S(1)		kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		AATGCCTCCATCTCAGTGGCC	0.552																																					p.I173S	GBM(121;657 1601 4665 24731 34640)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T518G	17						.						131.0	109.0	117.0					17																	40722131		2203	4300	6503	37975657	SO:0001583	missense	6945	exon6			AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.770T>G	17.37:g.40722131T>G	ENSP00000246912:p.Ile257Ser	Somatic		Capture	SOLID	Phase_I	37975657	NM_198205	A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	ENST00000246912.4	37	CCDS11430.1	.	.	.	.	.	.	.	.	.	.	T	31	5.080047	0.94050	.	.	ENSG00000108788	ENST00000346833;ENST00000246912;ENST00000435881	T;D;T	0.82255	-1.29;-1.59;-1.31	5.72	5.72	0.89469	.	0.114170	0.64402	D	0.000007	D	0.86732	0.6003	L	0.49778	1.585	0.58432	D	0.999999	D;D;P	0.63880	0.993;0.978;0.951	P;P;P	0.56916	0.809;0.772;0.733	D	0.88140	0.2844	10	0.87932	D	0	-19.417	15.9994	0.80280	0.0:0.0:0.0:1.0	.	173;257;203	Q9UH92-2;Q9UH92;Q9UH92-3	.;MLX_HUMAN;.	S	173;257;203	ENSP00000320913:I173S;ENSP00000246912:I257S;ENSP00000416627:I203S	ENSP00000246912:I257S	I	+	2	0	MLX	37975657	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	8.031000	0.88826	2.187000	0.69744	0.459000	0.35465	ATC		0.552	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607	
EZH1	2145	hgsc.bcm.edu	37	17	40870596	40870596	+	Silent	SNP	A	A	G	rs192650282		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:40870596A>G	ENST00000428826.2	-	9	928	c.807T>C	c.(805-807)ctT>ctC	p.L269L	EZH1_ENST00000435174.1_Silent_p.L130L|EZH1_ENST00000585893.1_Silent_p.L229L|EZH1_ENST00000415827.2_Silent_p.L260L|EZH1_ENST00000592743.1_Silent_p.L269L|EZH1_ENST00000590078.1_Silent_p.L199L			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	269					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.L269L(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ACTGAGGGGGAAGTGCATTGG	0.512													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20766	0.0		0.0	False		,,,				2504	0.0				p.L269L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T807C	17						.	A		2,4404	4.2+/-10.8	0,2,2201	127.0	124.0	126.0		807	-3.9	1.0	17		126	0,8600		0,0,4300	no	coding-synonymous	EZH1	NM_001991.3		0,2,6501	GG,GA,AA		0.0,0.0454,0.0154		269/748	40870596	2,13004	2203	4300	6503	38124122	SO:0001819	synonymous_variant	2145	exon9				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.807T>C	17.37:g.40870596A>G		Somatic		Capture	SOLID	Phase_I	38124122	NM_001991	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Silent	SNP	ENST00000428826.2	37	CCDS32659.1																																																																																				0.512	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991	
AARSD1	80755	hgsc.bcm.edu	37	17	41107959	41107959	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:41107959T>C	ENST00000427569.2	-	7	729	c.694A>G	c.(694-696)Aaa>Gaa	p.K232E	PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.K406E|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.K406E|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.K315E|AARSD1_ENST00000416949.1_5'Flank|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.K345E	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	232					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)	p.K345E(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CTGTTCTTTTTCCCCTTCTCA	0.478																																					p.K345E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1033G	17						.						205.0	193.0	197.0					17																	41107959		2203	4300	6503	38361485	SO:0001583	missense	80755	exon12			BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.694A>G	17.37:g.41107959T>C	ENSP00000400870:p.Lys232Glu	Somatic		Capture	SOLID	Phase_I	38361485	NM_025267	B4DI73	Missense_Mutation	SNP	ENST00000427569.2	37	CCDS58552.1	.	.	.	.	.	.	.	.	.	.	T	34	5.324778	0.95708	.	.	ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103;ENST00000423601	T;T	0.47528	0.84;0.84	5.52	5.52	0.82312	Threonyl/alanyl tRNA synthetase, SAD (2);Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.75004	0.3791	M	0.91872	3.25	0.47037	D	0.999290	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.995;0.993;0.993;0.996	T	0.80968	-0.1145	9	0.51188	T	0.08	-20.4414	15.6523	0.77108	0.0:0.0:0.0:1.0	.	406;315;363;232	B4DI73;C9J5N1;B3KSP9;Q9BTE6	.;.;.;AASD1_HUMAN	E	345;406;406;232;315;114	ENSP00000386621:K406E;ENSP00000409924:K406E	ENSP00000353355:K345E	K	-	1	0	AARSD1	38361485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.875000	0.87205	2.086000	0.62901	0.459000	0.35465	AAA		0.478	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	NM_001261434	
ITGA2B	3674	hgsc.bcm.edu	37	17	42455091	42455091	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:42455091C>T	ENST00000262407.5	-	21	2193	c.2162G>A	c.(2161-2163)gGc>gAc	p.G721D	ITGA2B_ENST00000353281.4_Missense_Mutation_p.G721D	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	721					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.G721D(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CATGGGGTTGCCCAGCTCACA	0.512																																					p.G721D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2162A	17						.						91.0	76.0	81.0					17																	42455091		2203	4300	6503	39810617	SO:0001583	missense	3674	exon21				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2162G>A	17.37:g.42455091C>T	ENSP00000262407:p.Gly721Asp	Somatic		Capture	SOLID	Phase_I	39810617	NM_000419	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700599	0.88924	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.59083	0.29;0.29	5.6	5.6	0.85130	Integrin alpha-2 (1);	0.000000	0.35903	N	0.002918	T	0.80879	0.4708	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84809	0.0789	10	0.87932	D	0	.	15.123	0.72460	0.0:1.0:0.0:0.0	.	319;721	Q59FA8;P08514	.;ITA2B_HUMAN	D	721	ENSP00000262407:G721D;ENSP00000340536:G721D	ENSP00000262407:G721D	G	-	2	0	ITGA2B	39810617	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.834000	0.69361	2.648000	0.89879	0.561000	0.74099	GGC		0.512	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1		
RNF167	26001	hgsc.bcm.edu	37	17	4848244	4848244	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:4848244T>C	ENST00000262482.6	+	10	1642	c.986T>C	c.(985-987)cTt>cCt	p.L329P	RNF167_ENST00000572430.1_Missense_Mutation_p.L329P|RNF167_ENST00000575111.1_Missense_Mutation_p.L329P|RNF167_ENST00000571816.1_Missense_Mutation_p.L329P|RNF167_ENST00000576229.1_Missense_Mutation_p.L294P	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	329					negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L329P(1)		endometrium(1)|large_intestine(2)|lung(1)	4						CCAGCTCCCCTTGTTTTTCCT	0.567																																					p.L329P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T986C	17						.						203.0	207.0	206.0					17																	4848244		2203	4300	6503	4788989	SO:0001583	missense	26001	exon10			AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"""RING-type (C3HC4) zinc fingers"""	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.986T>C	17.37:g.4848244T>C	ENSP00000262482:p.Leu329Pro	Somatic		Capture	SOLID	Phase_I	4788989	NM_015528	D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Missense_Mutation	SNP	ENST00000262482.6	37	CCDS11060.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.425712	0.25639	.	.	ENSG00000108523	ENST00000262482	T	0.03801	3.8	4.09	1.74	0.24563	.	0.919338	0.09160	N	0.840264	T	0.04588	0.0125	N	0.08118	0	0.35935	D	0.832808	D;B	0.56968	0.978;0.145	P;B	0.52267	0.694;0.031	T	0.54569	-0.8274	10	0.32370	T	0.25	-11.3139	6.6025	0.22708	0.3891:0.0:0.0:0.6109	.	137;329	Q9Y4L6;Q9H6Y7	.;RN167_HUMAN	P	329	ENSP00000262482:L329P	ENSP00000262482:L329P	L	+	2	0	RNF167	4788989	0.001000	0.12720	0.018000	0.16275	0.977000	0.68977	0.392000	0.20801	0.323000	0.23307	0.455000	0.32223	CTT		0.567	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216854.3	NM_015528	
ARHGAP27	201176	hgsc.bcm.edu	37	17	43473590	43473590	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:43473590C>T	ENST00000428638.1	-	14	2233	c.2234G>A	c.(2233-2235)cGc>cAc	p.R745H	ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R404H|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R404H|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R723H|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R377H|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.R523H|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R718H			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	745	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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.R404H(1)		endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CACCTTATAGCGTAGCTTCTG	0.647																																					p.R404H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1211A	17						.						82.0	74.0	76.0					17																	43473590		2203	4300	6503	40829373	SO:0001583	missense	201176	exon14			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.2234G>A	17.37:g.43473590C>T	ENSP00000403323:p.Arg745His	Somatic		Capture	SOLID	Phase_I	40829373	NM_199282	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37		.	.	.	.	.	.	.	.	.	.	C	30	5.056755	0.93793	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59	4.54	4.54	0.55810	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65780	-0.6085	10	0.87932	D	0	.	14.8112	0.69996	0.0:1.0:0.0:0.0	.	718;745	F8WBX1;Q6ZUM4	.;RHG27_HUMAN	H	523;404;377;723;745;718;404	ENSP00000432762:R523H;ENSP00000366121:R404H;ENSP00000431591:R377H;ENSP00000433942:R723H;ENSP00000403323:R745H;ENSP00000409330:R718H;ENSP00000408235:R404H	ENSP00000366121:R404H	R	-	2	0	ARHGAP27	40829373	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.483000	0.81158	2.350000	0.79820	0.561000	0.74099	CGC		0.647	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282	
STXBP4	252983	hgsc.bcm.edu	37	17	53076788	53076788	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:53076788G>A	ENST00000376352.2	+	5	470	c.263G>A	c.(262-264)aGc>aAc	p.S88N	STXBP4_ENST00000434978.2_Missense_Mutation_p.S88N|STXBP4_ENST00000405898.1_Missense_Mutation_p.S88N|STXBP4_ENST00000299341.4_Missense_Mutation_p.S11N|STXBP4_ENST00000398391.2_Missense_Mutation_p.S11N	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	88	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S88N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GAAGCAAAAAGCATAATTACC	0.358																																					p.S88N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263A	17						.						118.0	110.0	113.0					17																	53076788		2203	4300	6503	50431787	SO:0001583	missense	252983	exon5			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.263G>A	17.37:g.53076788G>A	ENSP00000365530:p.Ser88Asn	Somatic		Capture	SOLID	Phase_I	50431787	NM_178509	Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942849	0.34283	.	.	ENSG00000166263	ENST00000376352;ENST00000299341;ENST00000405898;ENST00000434978;ENST00000398391	T;T;T;T;T	0.36699	1.39;1.24;1.39;1.39;1.24	5.82	3.81	0.43845	PDZ/DHR/GLGF (4);	0.334374	0.39407	N	0.001378	T	0.28764	0.0713	L	0.31804	0.96	0.39314	D	0.965133	B;B;B	0.21753	0.005;0.06;0.05	B;B;B	0.27076	0.017;0.03;0.076	T	0.08027	-1.0742	10	0.44086	T	0.13	0.6112	12.3082	0.54914	0.1265:0.0:0.8735:0.0	.	88;11;88	E7EPP7;Q6ZWJ1-2;Q6ZWJ1	.;.;STXB4_HUMAN	N	88;11;88;88;11	ENSP00000365530:S88N;ENSP00000299341:S11N;ENSP00000385944:S88N;ENSP00000391087:S88N;ENSP00000381427:S11N	ENSP00000299341:S11N	S	+	2	0	STXBP4	50431787	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	2.730000	0.47335	0.785000	0.33685	0.655000	0.94253	AGC		0.358	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509	
HEATR6	63897	hgsc.bcm.edu	37	17	58150572	58150572	+	Silent	SNP	A	A	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:58150572A>T	ENST00000184956.6	-	4	553	c.537T>A	c.(535-537)ccT>ccA	p.P179P	HEATR6_ENST00000585976.1_Silent_p.P179P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	179							poly(A) RNA binding (GO:0044822)	p.P179P(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TCCTGACTTCAGGATCAGACT	0.438																																					p.P179P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T537A	17						.						119.0	110.0	113.0					17																	58150572		2203	4300	6503	55505354	SO:0001819	synonymous_variant	63897	exon4			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.537T>A	17.37:g.58150572A>T		Somatic		Capture	SOLID	Phase_I	55505354	NM_022070	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	ENST00000184956.6	37	CCDS11623.1																																																																																				0.438	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070	
PITPNM3	83394	hgsc.bcm.edu	37	17	6367184	6367184	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:6367184G>A	ENST00000262483.8	-	17	2261	c.2174C>T	c.(2173-2175)gCc>gTc	p.A725V	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.A689V	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	725					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.A725V(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GTAGCTCATGGCACAGGTCTG	0.597																																					p.A725V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2174T	17						.						84.0	62.0	70.0					17																	6367184		2203	4300	6503	6307908	SO:0001583	missense	83394	exon17			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2174C>T	17.37:g.6367184G>A	ENSP00000262483:p.Ala725Val	Somatic		Capture	SOLID	Phase_I	6307908	NM_031220	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906957	0.72868	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.51325	0.71;0.72	5.13	5.13	0.70059	.	0.055383	0.64402	D	0.000001	T	0.56906	0.2017	L	0.53729	1.69	0.50171	D	0.999857	P;D	0.76494	0.55;0.999	B;P	0.62491	0.172;0.903	T	0.52041	-0.8628	10	0.06757	T	0.87	.	16.0752	0.80965	0.0:0.0:1.0:0.0	.	689;725	F8WEW5;Q9BZ71	.;PITM3_HUMAN	V	725;689	ENSP00000262483:A725V;ENSP00000407882:A689V	ENSP00000262483:A725V	A	-	2	0	PITPNM3	6307908	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	7.847000	0.86896	2.393000	0.81446	0.561000	0.74099	GCC		0.597	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220	
PITPNM3	83394	hgsc.bcm.edu	37	17	6367559	6367559	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:6367559C>T	ENST00000262483.8	-	16	2174	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.R660H	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	696					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.R696H(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GTATGTGATGCGACCACTGCT	0.597																																					p.R696H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2087A	17						.						82.0	80.0	81.0					17																	6367559		2203	4300	6503	6308283	SO:0001583	missense	83394	exon16			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2087G>A	17.37:g.6367559C>T	ENSP00000262483:p.Arg696His	Somatic		Capture	SOLID	Phase_I	6308283	NM_031220	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741479	0.69304	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.60424	0.19;0.2	4.65	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.84511	2.7	0.46631	D	0.999137	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.80381	-0.1406	10	0.87932	D	0	.	12.1943	0.54288	0.0:0.8262:0.1738:0.0	.	660;696	F8WEW5;Q9BZ71	.;PITM3_HUMAN	H	696;660	ENSP00000262483:R696H;ENSP00000407882:R660H	ENSP00000262483:R696H	R	-	2	0	PITPNM3	6308283	1.000000	0.71417	0.018000	0.16275	0.483000	0.33249	5.961000	0.70356	2.288000	0.76882	0.511000	0.50034	CGC		0.597	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220	
FBXO39	162517	hgsc.bcm.edu	37	17	6683400	6683400	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:6683400T>C	ENST00000321535.4	+	2	343	c.213T>C	c.(211-213)caT>caC	p.H71H		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	71								p.H71H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CCAGGGTACATGCATCTGAAG	0.478																																					p.H71H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T213C	17						.						138.0	131.0	133.0					17																	6683400		2203	4300	6503	6624124	SO:0001819	synonymous_variant	162517	exon2			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.213T>C	17.37:g.6683400T>C		Somatic		Capture	SOLID	Phase_I	6624124	NM_153230		Silent	SNP	ENST00000321535.4	37	CCDS11082.1																																																																																				0.478	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230	
ALOX12	239	hgsc.bcm.edu	37	17	6909200	6909200	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:6909200C>T	ENST00000251535.6	+	10	1325	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000575727.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	424	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.G424G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GTGGAGGGGGCCATGTACAGT	0.612																																					p.G424G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1272T	17						.						53.0	54.0	53.0					17																	6909200		2203	4300	6503	6849924	SO:0001819	synonymous_variant	239	exon10			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1272C>T	17.37:g.6909200C>T		Somatic		Capture	SOLID	Phase_I	6849924	NM_000697	O95569|Q6ISF8|Q9UQM4	Silent	SNP	ENST00000251535.6	37	CCDS11084.1																																																																																				0.612	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2		
TLK2	11011	hgsc.bcm.edu	37	17	60654091	60654091	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:60654091T>C	ENST00000326270.9	+	14	1477	c.1209T>C	c.(1207-1209)caT>caC	p.H403H	TLK2_ENST00000542523.1_Silent_p.H349H|TLK2_ENST00000343388.7_Silent_p.H349H|TLK2_ENST00000582809.1_Silent_p.H232H|TLK2_ENST00000346027.5_Silent_p.H381H	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	403					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H380H(1)|p.H403H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CAGAATACCATGAACAAGAAG	0.318																																					p.H381H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1143C	17						.						107.0	105.0	105.0					17																	60654091		2203	4299	6502	58007823	SO:0001819	synonymous_variant	11011	exon13			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1209T>C	17.37:g.60654091T>C		Somatic		Capture	SOLID	Phase_I	58007823	NM_006852	D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37																																																																																					0.318	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852	
DNAI2	64446	hgsc.bcm.edu	37	17	72310304	72310304	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:72310304G>T	ENST00000311014.6	+	13	1834	c.1767G>T	c.(1765-1767)gaG>gaT	p.E589D	DNAI2_ENST00000446837.2_Missense_Mutation_p.E589D|DNAI2_ENST00000582036.1_Missense_Mutation_p.E577D|DNAI2_ENST00000579490.1_Missense_Mutation_p.E646D|DNAI2_ENST00000307504.5_Nonsense_Mutation_p.G395*			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	589					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.E589D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						aggagggagaggaagcagcgg	0.572									Kartagener syndrome																												p.E589D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1767T	17						.						211.0	156.0	175.0					17																	72310304		2203	4300	6503	69821899	SO:0001583	missense	64446	exon13	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1767G>T	17.37:g.72310304G>T	ENSP00000308312:p.Glu589Asp	Somatic		Capture	SOLID	Phase_I	69821899	NM_023036	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	CCDS11697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.311674|5.311674	0.95655|0.95655	.|.	.|.	ENSG00000171595|ENSG00000171595	ENST00000311014;ENST00000446837|ENST00000307504	T;T|.	0.65916|.	-0.18;-0.18|.	3.27|3.27	-6.54|-6.54	0.01860|0.01860	.|.	3.954980|.	0.00827|.	N|.	0.001627|.	T|.	0.31327|.	0.0793|.	M|M	0.68317|0.68317	2.08|2.08	0.18873|0.18873	A|A	1.88882e-05|1.88882e-05	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.30794|.	-0.9966|.	9|.	0.52906|0.16420	T|T	0.07|0.52	0.0867|0.0867	0.5277|0.5277	0.00623|0.00623	0.191:0.2787:0.2327:0.2976|0.191:0.2787:0.2327:0.2976	.|.	589|.	Q9GZS0|.	DNAI2_HUMAN|.	D|X	589|395	ENSP00000308312:E589D;ENSP00000400252:E589D|.	ENSP00000308312:E589D|ENSP00000302929:G395X	E|G	+|+	3|1	2|0	DNAI2|DNAI2	69821899|69821899	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	-1.002000|-1.002000	0.03686|0.03686	-2.574000|-2.574000	0.00466|0.00466	0.556000|0.556000	0.70494|0.70494	GAG|GGA		0.572	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036	
SRP68	6730	hgsc.bcm.edu	37	17	74036542	74036542	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:74036542A>G	ENST00000307877.2	-	15	1775	c.1614T>C	c.(1612-1614)gcT>gcC	p.A538A	SRP68_ENST00000355113.5_Silent_p.A437A|SRP68_ENST00000539137.1_Silent_p.A500A|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000602720.1_Silent_p.A199A	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	538					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.A538A(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CTGTTTGATGAGCGTCGTTTG	0.433																																					p.A538A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1614C	17						.						150.0	125.0	134.0					17																	74036542		2203	4300	6503	71548137	SO:0001819	synonymous_variant	6730	exon15			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1614T>C	17.37:g.74036542A>G		Somatic		Capture	SOLID	Phase_I	71548137	NM_014230	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	ENST00000307877.2	37	CCDS11738.1																																																																																				0.433	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230	
TNFSF12	8742	hgsc.bcm.edu	37	17	7453448	7453448	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:7453448C>T	ENST00000293825.6	+	3	482	c.219C>T	c.(217-219)ccC>ccT	p.P73P	TNFSF12_ENST00000557233.1_Silent_p.P73P|TNFSF12-TNFSF13_ENST00000293826.4_Silent_p.P73P|TNFSF12_ENST00000462811.1_3'UTR	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	73					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)	p.P73P(2)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				AACTGAATCCCCAGACAGAAG	0.562																																					p.P73P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C219T	17						.						127.0	121.0	123.0					17																	7453448		2203	4300	6503	7394172	SO:0001819	synonymous_variant	407977	exon3			AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"""Tumor necrosis factor (ligand) superfamily"""	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.219C>T	17.37:g.7453448C>T		Somatic		Capture	SOLID	Phase_I	7394172	NM_172089	Q8IZK7|Q8WUZ7	Silent	SNP	ENST00000293825.6	37	CCDS11109.1																																																																																				0.562	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226951.2	NM_003809	
UBE2O	63893	hgsc.bcm.edu	37	17	74394414	74394414	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:74394414A>G	ENST00000319380.7	-	12	2011	c.1947T>C	c.(1945-1947)ccT>ccC	p.P649P	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	649					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.P649P(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ACCTAAAGTCAGGGTGGTCAG	0.517											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P649P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1947C	17						.						406.0	355.0	372.0					17																	74394414		2203	4300	6503	71906009	SO:0001819	synonymous_variant	63893	exon12			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1947T>C	17.37:g.74394414A>G		Somatic	1152	Capture	SOLID	Phase_I	71906009	NM_022066	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	CCDS32742.1																																																																																				0.517	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066	
CHD3	1107	hgsc.bcm.edu	37	17	7801872	7801872	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:7801872G>A	ENST00000330494.7	+	13	2260	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K	CHD3_ENST00000380358.4_Missense_Mutation_p.E763K|CHD3_ENST00000358181.4_Missense_Mutation_p.E704K	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	704					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.E704K(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)				GAAGAAGAAGGAGCTACAGGG	0.488																																					p.E704K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2110A	17						.						90.0	84.0	86.0					17																	7801872		2203	4300	6503	7742597	SO:0001583	missense	1107	exon13			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.2110G>A	17.37:g.7801872G>A	ENSP00000332628:p.Glu704Lys	Somatic		Capture	SOLID	Phase_I	7742597	NM_005852	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177423	0.38413	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90261	-2.64;-2.57;-2.58	4.7	4.7	0.59300	.	0.000000	0.46758	D	0.000263	T	0.79616	0.4476	N	0.14661	0.345	0.51012	D	0.999903	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.10450	0.005;0.002;0.003	T	0.72080	-0.4398	10	0.09084	T	0.74	-32.7953	10.8095	0.46538	0.0906:0.0:0.9094:0.0	.	704;704;763	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	K	763;704;704	ENSP00000369716:E763K;ENSP00000350907:E704K;ENSP00000332628:E704K	ENSP00000332628:E704K	E	+	1	0	CHD3	7742597	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.314000	0.51943	2.606000	0.88127	0.563000	0.77884	GAG		0.488	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
ALOXE3	59344	hgsc.bcm.edu	37	17	8018335	8018335	+	Missense_Mutation	SNP	C	C	T	rs145113596		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:8018335C>T	ENST00000448843.2	-	5	815	c.475G>A	c.(475-477)Gtc>Atc	p.V159I	ALOXE3_ENST00000318227.3_Missense_Mutation_p.V291I|ALOXE3_ENST00000380149.1_Missense_Mutation_p.V315I	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	159	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.V159I(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						AAGCTGTTGACGTCTACCATG	0.498																																					p.V291I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G871A	17						.	C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	164.0	153.0	157.0		871,475	4.9	1.0	17	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ALOXE3	NM_001165960.1,NM_021628.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	291/844,159/712	8018335	1,13005	2203	4300	6503	7959060	SO:0001583	missense	59344	exon5			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.475G>A	17.37:g.8018335C>T	ENSP00000400581:p.Val159Ile	Somatic		Capture	SOLID	Phase_I	7959060	NM_001165960	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	C	6.931	0.541417	0.13250	0.0	1.16E-4	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.89875	-2.58;-2.58;-2.58	5.84	4.87	0.63330	Lipoxygenase, C-terminal (2);	0.458664	0.19672	N	0.108721	T	0.73426	0.3585	N	0.02721	-0.515	0.32676	N	0.51617	B;B;B	0.15141	0.012;0.003;0.003	B;B;B	0.06405	0.002;0.002;0.002	T	0.70443	-0.4870	10	0.16420	T	0.52	-32.0234	12.1542	0.54066	0.0:0.92:0.0:0.08	.	291;159;159	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	I	315;291;159	ENSP00000369494:V315I;ENSP00000314879:V291I;ENSP00000400581:V159I	ENSP00000314879:V291I	V	-	1	0	ALOXE3	7959060	0.865000	0.29922	0.965000	0.40720	0.909000	0.53808	1.433000	0.34947	1.479000	0.48272	0.650000	0.86243	GTC		0.498	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1		
SLC25A35	399512	hgsc.bcm.edu	37	17	8198093	8198093	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:8198093G>A	ENST00000577745.1	-	1	543	c.33C>T	c.(31-33)tgC>tgT	p.C11C	SLC25A35_ENST00000580340.1_Silent_p.C11C|SLC25A35_ENST00000579192.1_Silent_p.C11C|SLC25A35_ENST00000396278.1_Silent_p.C11C|SLC25A35_ENST00000380067.2_Silent_p.C11C			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	11					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.C11C(1)		breast(2)|large_intestine(2)|lung(2)	6						CACAGGCCCCGCAGGCTGCCA	0.552																																					p.C11C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C33T	17						.						55.0	58.0	57.0					17																	8198093		2203	4300	6503	8138818	SO:0001819	synonymous_variant	399512	exon1			AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"""Solute carriers"""	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.33C>T	17.37:g.8198093G>A		Somatic		Capture	SOLID	Phase_I	8138818	NM_201520	Q494X5|Q6RGS3|Q8N7Y5	Silent	SNP	ENST00000577745.1	37																																																																																					0.552	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442146.1	NM_201520	
CDC27	996	hgsc.bcm.edu	37	17	45216162	45216162	+	Missense_Mutation	SNP	A	A	C	rs111227623		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:45216162A>C	ENST00000066544.3	-	13	1740	c.1647T>G	c.(1645-1647)gaT>gaG	p.D549E	CDC27_ENST00000531206.1_Missense_Mutation_p.D555E|CDC27_ENST00000527547.1_Missense_Mutation_p.D548E|CDC27_ENST00000446365.2_Missense_Mutation_p.D488E	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	549					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.D549E(4)|p.D555E(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AAAGAGCAACATCTTTTTGAA	0.348																																					p.D555E												CDC27,lung,NS,Substitution - Missense,0	.	6	Substitution - Missense(6)	large_intestine(4)|ovary(1)|lung(1)	c.T1665G	17						.						46.0	51.0	49.0					17																	45216162		2202	4299	6501	42571161	SO:0001583	missense	996	exon13			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1647T>G	17.37:g.45216162A>C	ENSP00000066544:p.Asp549Glu	Somatic		Capture	SOLID	Phase_I	42571161	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	6.981	0.550975	0.13374	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.65364	-0.14;-0.15;0.15;-0.12	5.57	-0.476	0.12100	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.01473	-0.845	0.48040	D	0.999577	B;B;B;B	0.27192	0.052;0.171;0.171;0.052	B;B;B;B	0.27715	0.021;0.082;0.082;0.021	T	0.36261	-0.9755	10	0.02654	T	1	-6.7614	9.4643	0.38802	0.6029:0.0:0.3971:0.0	.	488;548;555;549	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	E	549;555;488;548	ENSP00000066544:D549E;ENSP00000434614:D555E;ENSP00000392802:D488E;ENSP00000437339:D548E	ENSP00000066544:D549E	D	-	3	2	CDC27	42571161	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.462000	0.35266	-0.146000	0.11274	-0.256000	0.11100	GAT		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
TBC1D16	125058	hgsc.bcm.edu	37	17	77921558	77921558	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr17:77921558C>T	ENST00000310924.2	-	9	1729	c.1614G>A	c.(1612-1614)gcG>gcA	p.A538A	TBC1D16_ENST00000576768.1_Silent_p.A163A|TBC1D16_ENST00000570373.1_Silent_p.A177A|TBC1D16_ENST00000572862.1_Silent_p.A176A|TBC1D16_ENST00000340848.7_Silent_p.A176A	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	538	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.A538A(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCAAGATGGGCGCCACCAGGT	0.602																																					p.A538A	Ovarian(14;397 562 4850 31922 49378)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1614A	17						.						116.0	87.0	97.0					17																	77921558		2203	4300	6503	75536153	SO:0001819	synonymous_variant	125058	exon9			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1614G>A	17.37:g.77921558C>T		Somatic		Capture	SOLID	Phase_I	75536153	NM_019020	B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Silent	SNP	ENST00000310924.2	37	CCDS11766.1																																																																																				0.602	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020	
CLDN17	26285	hgsc.bcm.edu	37	21	31538770	31538770	+	Nonsense_Mutation	SNP	G	G	A	rs148594408		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr21:31538770G>A	ENST00000286808.3	-	1	201	c.166C>T	c.(166-168)Cga>Tga	p.R56*		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	56					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.R56*(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CTGGCTTGTCGGATGCAATTC	0.547																																					p.R56X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C166T	21						.	G	stop/ARG	0,4406		0,0,2203	76.0	83.0	80.0		166	5.2	0.6	21	dbSNP_134	80	3,8597	3.0+/-9.4	0,3,4297	no	stop-gained	CLDN17	NM_012131.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		56/225	31538770	3,13003	2203	4300	6503	30460641	SO:0001587	stop_gained	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.166C>T	21.37:g.31538770G>A	ENSP00000286808:p.Arg56*	Somatic		Capture	SOLID	Phase_I	30460641	NM_012131	Q3MJB5|Q6UY37	Nonsense_Mutation	SNP	ENST00000286808.3	37	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043873	0.93685	0.0	3.49E-4	ENSG00000156282	ENST00000286808	.	.	.	5.22	5.22	0.72569	.	0.114460	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	11.9079	0.52723	0.0:0.0:0.7212:0.2788	.	.	.	.	X	56	.	ENSP00000286808:R56X	R	-	1	2	CLDN17	30460641	0.000000	0.05858	0.587000	0.28692	0.983000	0.72400	0.307000	0.19296	2.885000	0.99019	0.655000	0.94253	CGA		0.547	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131	
GART	2618	hgsc.bcm.edu	37	21	34904694	34904694	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr21:34904694T>G	ENST00000381831.3	-	5	748	c.485A>C	c.(484-486)aAg>aCg	p.K162T	GART_ENST00000361093.5_Missense_Mutation_p.K162T|GART_ENST00000381839.3_Missense_Mutation_p.K162T|GART_ENST00000497313.1_5'UTR|GART_ENST00000381815.4_Missense_Mutation_p.K162T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	162	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.K162T(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TTCTTTGCTCTTTGCAACAAT	0.428																																					p.K162T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A485C	21						.						228.0	243.0	238.0					21																	34904694		2203	4300	6503	33826564	SO:0001583	missense	2618	exon5			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.485A>C	21.37:g.34904694T>G	ENSP00000371253:p.Lys162Thr	Somatic		Capture	SOLID	Phase_I	33826564	NM_001136006	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	T	8.925	0.962069	0.18583	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093;ENST00000430874;ENST00000426819	T;T;T;T;T;T	0.44482	1.52;1.52;1.52;1.51;0.93;0.92	6.07	2.23	0.28157	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain (1);	0.959844	0.08845	N	0.885355	T	0.21921	0.0528	N	0.05608	-0.01	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.15723	-1.0427	10	0.48119	T	0.1	-2.0056	5.1633	0.15073	0.0:0.2558:0.2699:0.4743	.	162	P22102	PUR2_HUMAN	T	162	ENSP00000371236:K162T;ENSP00000371253:K162T;ENSP00000371261:K162T;ENSP00000354388:K162T;ENSP00000413040:K162T;ENSP00000398631:K162T	ENSP00000354388:K162T	K	-	2	0	GART	33826564	0.001000	0.12720	0.848000	0.33437	0.966000	0.64601	0.916000	0.28651	1.107000	0.41642	0.533000	0.62120	AAG		0.428	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819	
MX2	4600	hgsc.bcm.edu	37	21	42767684	42767684	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr21:42767684A>G	ENST00000330714.3	+	7	1226	c.1042A>G	c.(1042-1044)Aca>Gca	p.T348A	MX2_ENST00000496774.1_3'UTR|MX2_ENST00000543692.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	348	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T348A(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GAAAGAAATTACATTCTTTCA	0.488																																					p.T348A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1042G	21						.						76.0	78.0	77.0					21																	42767684		2203	4300	6503	41689554	SO:0001583	missense	4600	exon7				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1042A>G	21.37:g.42767684A>G	ENSP00000333657:p.Thr348Ala	Somatic		Capture	SOLID	Phase_I	41689554	NM_002463	B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	A	0.386	-0.926111	0.02377	.	.	ENSG00000183486	ENST00000330714	T	0.71698	-0.59	3.5	-7.01	0.01594	Dynamin central domain (1);	1.651770	0.03739	N	0.254735	T	0.31638	0.0803	N	0.00746	-1.225	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.44314	-0.9336	10	0.06365	T	0.9	0.0233	7.2327	0.26051	0.3131:0.5053:0.1816:0.0	.	348	P20592	MX2_HUMAN	A	348	ENSP00000333657:T348A	ENSP00000333657:T348A	T	+	1	0	MX2	41689554	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.322000	0.08007	-1.246000	0.02510	0.383000	0.25322	ACA		0.488	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	
TRAPPC10	7109	hgsc.bcm.edu	37	21	45507676	45507676	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr21:45507676A>G	ENST00000291574.4	+	17	2811	c.2636A>G	c.(2635-2637)gAa>gGa	p.E879G		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	879					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.E879G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATCGAATTTGAACTGGAAGTT	0.557																																					p.E879G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2636G	21						.						113.0	97.0	102.0					21																	45507676		2203	4300	6503	44332104	SO:0001583	missense	7109	exon17			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2636A>G	21.37:g.45507676A>G	ENSP00000291574:p.Glu879Gly	Somatic		Capture	SOLID	Phase_I	44332104	NM_003274	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.162035	0.78226	.	.	ENSG00000160218	ENST00000291574	T	0.25414	1.8	5.2	5.2	0.72013	.	0.174409	0.49916	D	0.000127	T	0.21062	0.0507	L	0.27053	0.805	0.51767	D	0.999936	P	0.41475	0.751	B	0.39503	0.301	T	0.02668	-1.1126	10	0.51188	T	0.08	.	15.0524	0.71885	1.0:0.0:0.0:0.0	.	879	P48553	TPC10_HUMAN	G	879	ENSP00000291574:E879G	ENSP00000291574:E879G	E	+	2	0	TRAPPC10	44332104	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.258000	0.89853	1.958000	0.56883	0.460000	0.39030	GAA		0.557	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274	
ITGB2	3689	hgsc.bcm.edu	37	21	46311851	46311851	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr21:46311851G>A	ENST00000397850.2	-	12	1737	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	ITGB2_ENST00000302347.5_Missense_Mutation_p.R429W|ITGB2_ENST00000355153.4_Missense_Mutation_p.R429W|ITGB2_ENST00000397852.1_Missense_Mutation_p.R429W|ITGB2_ENST00000397854.3_Missense_Mutation_p.R372W|ITGB2_ENST00000397857.1_Missense_Mutation_p.R429W			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	429					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.R429W(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCCAGCGCCCGGATGACAAAC	0.637																																					p.R429W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1285T	21						.						97.0	78.0	84.0					21																	46311851		2200	4300	6500	45136279	SO:0001583	missense	3689	exon11			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1285C>T	21.37:g.46311851G>A	ENSP00000380948:p.Arg429Trp	Somatic		Capture	SOLID	Phase_I	45136279	NM_001127491	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	CCDS13716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.74|19.74	3.883532|3.883532	0.72410|0.72410	.|.	.|.	ENSG00000160255|ENSG00000160255	ENST00000545414|ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	.|T;T;T;T;T;T	.|0.65549	.|-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Integrin beta subunit, N-terminal (2);	.|.	.|.	.|.	.|.	.|T	.|0.74215	.|0.3687	M|M	0.83774|0.83774	2.66|2.66	0.54753|0.54753	D|D	0.999981|0.999981	.|D;D	.|0.59357	.|0.985;0.973	.|P;P	.|0.50754	.|0.649;0.57	.|T	.|0.78802	.|-0.2061	.|9	.|0.62326	.|D	.|0.03	.|.	16.9813|16.9813	0.86328|0.86328	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|372;429	.|A8MYE6;P05107	.|.;ITB2_HUMAN	.|W	-1|429;429;372;429;429;429	.|ENSP00000380950:R429W;ENSP00000380955:R429W;ENSP00000380952:R372W;ENSP00000347279:R429W;ENSP00000380948:R429W;ENSP00000303242:R429W	.|ENSP00000303242:R429W	.|R	-|-	.|1	.|2	ITGB2|ITGB2	45136279|45136279	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.529000|0.529000	0.34654|0.34654	4.296000|4.296000	0.59055|0.59055	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	.|CGG		0.637	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	
MCM3AP	8888	hgsc.bcm.edu	37	21	47660761	47660761	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr21:47660761G>A	ENST00000397708.1	-	27	5851	c.5597C>T	c.(5596-5598)tCg>tTg	p.S1866L	MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1866L|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1866					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.S1866L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAGACTGCTCGACAAACACTG	0.522																																					p.S1866L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5597T	21						.						135.0	129.0	131.0					21																	47660761		2203	4300	6503	46485189	SO:0001583	missense	8888	exon26			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5597C>T	21.37:g.47660761G>A	ENSP00000380820:p.Ser1866Leu	Somatic		Capture	SOLID	Phase_I	46485189	NM_003906	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	8.943	0.966332	0.18659	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03441	3.93;3.93	5.57	3.74	0.42951	.	0.795116	0.11893	N	0.519377	T	0.02727	0.0082	N	0.19112	0.55	0.09310	N	0.999996	B;B	0.21309	0.029;0.054	B;B	0.14023	0.002;0.01	T	0.47522	-0.9111	10	0.29301	T	0.29	-7.5427	5.5534	0.17103	0.08:0.1401:0.6352:0.1448	.	1866;361	O60318;B3KT88	MCM3A_HUMAN;.	L	1866;1866;361	ENSP00000380820:S1866L;ENSP00000291688:S1866L	ENSP00000291688:S1866L	S	-	2	0	MCM3AP	46485189	0.979000	0.34478	0.427000	0.26684	0.052000	0.14988	2.216000	0.42871	0.680000	0.31366	0.650000	0.86243	TCG		0.522	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906	
MCM3AP	8888	hgsc.bcm.edu	37	21	47660839	47660839	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr21:47660839G>A	ENST00000397708.1	-	27	5773	c.5519C>T	c.(5518-5520)gCt>gTt	p.A1840V	MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1840V|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1840					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.A1840V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCCCTCTTGAGCACACTCTGT	0.498																																					p.A1840V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5519T	21						.						173.0	155.0	161.0					21																	47660839		2203	4300	6503	46485267	SO:0001583	missense	8888	exon26			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5519C>T	21.37:g.47660839G>A	ENSP00000380820:p.Ala1840Val	Somatic		Capture	SOLID	Phase_I	46485267	NM_003906	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	8.623	0.891804	0.17613	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03358	3.96;3.96	5.57	3.77	0.43336	.	0.744430	0.13115	N	0.412656	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.06405	0.002;0.001	T	0.48210	-0.9055	10	0.25106	T	0.35	-3.9798	9.3581	0.38179	0.0:0.7785:0.145:0.0765	.	1840;335	O60318;B3KT88	MCM3A_HUMAN;.	V	1840;1840;335	ENSP00000380820:A1840V;ENSP00000291688:A1840V	ENSP00000291688:A1840V	A	-	2	0	MCM3AP	46485267	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.153000	0.16323	0.719000	0.32188	-0.134000	0.14843	GCT		0.498	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906	
BFAR	51283	hgsc.bcm.edu	37	16	14738383	14738383	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:14738383A>G	ENST00000261658.2	+	2	457	c.180A>G	c.(178-180)ttA>ttG	p.L60L	BFAR_ENST00000563971.1_Silent_p.L60L|RNU7-125P_ENST00000458760.1_RNA|BFAR_ENST00000426842.2_Start_Codon_SNP_p.M1V	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	60					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.L60L(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						GCCTTGCTTTATGGTGGGCAT	0.458																																					p.L60L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A180G	16						.						130.0	119.0	123.0					16																	14738383		2197	4300	6497	14645884	SO:0001819	synonymous_variant	51283	exon2			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.180A>G	16.37:g.14738383A>G		Somatic		Capture	SOLID	Phase_I	14645884	NM_016561	A8K4Z9|B4DUT0|D3DUG8	Silent	SNP	ENST00000261658.2	37	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.633315	0.29068	.	.	ENSG00000103429	ENST00000426842	T	0.40225	1.04	6.02	-9.71	0.00518	.	.	.	.	.	T	0.19846	0.0477	.	.	.	0.33802	D	0.626806	B	0.02656	0.0	B	0.01281	0.0	T	0.44236	-0.9341	8	0.02654	T	1	.	19.9864	0.97352	0.2299:0.0792:0.6908:0.0	.	1	B4DUT0	.	V	1	ENSP00000400634:M1V	ENSP00000400634:M1V	M	+	1	0	BFAR	14645884	0.164000	0.22935	0.047000	0.18901	0.869000	0.49853	-0.520000	0.06252	-2.476000	0.00526	-2.200000	0.00306	ATG		0.458	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561	
THUMPD1	55623	hgsc.bcm.edu	37	16	20748389	20748389	+	Missense_Mutation	SNP	G	G	A	rs139713563	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:20748389G>A	ENST00000381337.2	-	4	1219	c.875C>T	c.(874-876)gCg>gTg	p.A292V	THUMPD1_ENST00000431224.2_Missense_Mutation_p.A378V|THUMPD1_ENST00000396083.2_Missense_Mutation_p.A292V	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	292							poly(A) RNA binding (GO:0044822)	p.A292V(1)		NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						TGATTTGTCCGCAGATTCCAG	0.448													G|||	12	0.00239617	0.0091	0.0	5008	,	,		19860	0.0		0.0	False		,,,				2504	0.0				p.A292V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C875T	16						.	G	VAL/ALA	20,4382	28.1+/-56.4	0,20,2181	218.0	187.0	197.0		875	-5.4	0.0	16	dbSNP_134	197	0,8600		0,0,4300	yes	missense	THUMPD1	NM_017736.3	64	0,20,6481	AA,AG,GG		0.0,0.4543,0.1538	benign	292/354	20748389	20,12982	2201	4300	6501	20655890	SO:0001583	missense	55623	exon4			BC000448	CCDS10588.1	16p13.11	2010-06-17			ENSG00000066654	ENSG00000066654			23807	protein-coding gene	gene with protein product							Standard	XM_005255422		Approved	FLJ20274	uc002dho.3	Q9NXG2	OTTHUMG00000131558	ENST00000381337.2:c.875C>T	16.37:g.20748389G>A	ENSP00000370741:p.Ala292Val	Somatic		Capture	SOLID	Phase_I	20655890	NM_017736	Q9BWC3	Missense_Mutation	SNP	ENST00000381337.2	37	CCDS10588.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.987	0.552178	0.13374	0.004543	0.0	ENSG00000066654	ENST00000381337;ENST00000431224;ENST00000396083	T;T;T	0.48522	0.87;0.81;0.87	5.92	-5.4	0.02656	.	0.858549	0.10028	N	0.725178	T	0.15305	0.0369	N	0.02011	-0.69	0.09310	N	1	B	0.22003	0.063	B	0.14578	0.011	T	0.18178	-1.0345	10	0.29301	T	0.29	.	5.1671	0.15092	0.1244:0.1788:0.0869:0.6099	.	292	Q9NXG2	THUM1_HUMAN	V	292;378;292	ENSP00000370741:A292V;ENSP00000392282:A378V;ENSP00000379392:A292V	ENSP00000370741:A292V	A	-	2	0	THUMPD1	20655890	0.000000	0.05858	0.012000	0.15200	0.126000	0.20510	0.039000	0.13884	-0.766000	0.04639	-0.311000	0.09066	GCG		0.448	THUMPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254420.1	NM_017736	
TRAP1	10131	hgsc.bcm.edu	37	16	3708226	3708226	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:3708226G>A	ENST00000246957.5	-	18	2107	c.2019C>T	c.(2017-2019)taC>taT	p.Y673Y	TRAP1_ENST00000575671.1_Silent_p.Y464Y|TRAP1_ENST00000538171.1_Silent_p.Y620Y|DNASE1_ENST00000414110.2_Intron	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	673					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)	p.Y673Y(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TGGCGTTCTCGTATATCTGAA	0.517																																					p.Y673Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2019T	16						.						55.0	55.0	55.0					16																	3708226		2197	4300	6497	3648227	SO:0001819	synonymous_variant	10131	exon18			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.2019C>T	16.37:g.3708226G>A		Somatic		Capture	SOLID	Phase_I	3648227	NM_016292	B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Silent	SNP	ENST00000246957.5	37	CCDS10508.1																																																																																				0.517	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292	
NMRAL1	57407	hgsc.bcm.edu	37	16	4519409	4519409	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:4519409C>T	ENST00000574733.1	-	3	827	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	NMRAL1_ENST00000404295.3_Missense_Mutation_p.R33Q|NMRAL1_ENST00000283429.6_Missense_Mutation_p.R33Q|NMRAL1_ENST00000572391.1_Intron|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R33Q			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	33						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R33Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GGTCACCACTCGAACCTTGAA	0.547																																					p.R33Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G98A	16						.						265.0	220.0	235.0					16																	4519409		2197	4300	6497	4459410	SO:0001583	missense	57407	exon3			AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.98G>A	16.37:g.4519409C>T	ENSP00000458762:p.Arg33Gln	Somatic		Capture	SOLID	Phase_I	4459410	NM_020677		Missense_Mutation	SNP	ENST00000574733.1	37	CCDS10516.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246743	0.80024	.	.	ENSG00000153406	ENST00000283429;ENST00000404295	T;T	0.40476	1.03;1.03	5.37	5.37	0.77165	NAD(P)-binding domain (1);NmrA-like (1);	0.000000	0.64402	D	0.000014	T	0.61123	0.2322	H	0.97415	4	0.48341	D	0.99963	D	0.57571	0.98	B	0.40864	0.342	T	0.78954	-0.2000	10	0.87932	D	0	-6.128	16.2746	0.82638	0.0:1.0:0.0:0.0	.	33	Q9HBL8	NMRL1_HUMAN	Q	33	ENSP00000283429:R33Q;ENSP00000383962:R33Q	ENSP00000283429:R33Q	R	-	2	0	NMRAL1	4459410	0.973000	0.33851	1.000000	0.80357	0.752000	0.42762	4.818000	0.62657	2.534000	0.85438	0.561000	0.74099	CGA		0.547	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677	
SRCAP	10847	hgsc.bcm.edu	37	16	30724093	30724093	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:30724093T>C	ENST00000262518.4	+	14	2472	c.2087T>C	c.(2086-2088)cTc>cCc	p.L696P	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.L696P|SRCAP_ENST00000344771.4_Missense_Mutation_p.L696P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	696	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.L696P(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TTTAAAATCCTCACTTACTAT	0.478																																					p.L696P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2087C	16						.						141.0	123.0	129.0					16																	30724093		2197	4300	6497	30631594	SO:0001583	missense	10847	exon14			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2087T>C	16.37:g.30724093T>C	ENSP00000262518:p.Leu696Pro	Somatic		Capture	SOLID	Phase_I	30631594	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717052	0.48622	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94184	-3.37;-3.37;-3.37	4.98	4.98	0.66077	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.51477	D	0.000098	D	0.97424	0.9157	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.98223	1.0479	10	0.87932	D	0	-14.4076	12.9296	0.58280	0.0:0.0:0.0:1.0	.	696;696;696	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	P	696	ENSP00000262518:L696P;ENSP00000378499:L696P;ENSP00000343042:L696P	ENSP00000262518:L696P	L	+	2	0	SRCAP	30631594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.779000	0.85648	2.217000	0.71921	0.379000	0.24179	CTC		0.478	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
NETO2	81831	hgsc.bcm.edu	37	16	47117434	47117434	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:47117434G>A	ENST00000562435.1	-	9	1660	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	NETO2_ENST00000303155.5_Missense_Mutation_p.R419W	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	426					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)		p.R426W(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GAGGAGCGCCGCATCTTCTGG	0.532										HNSCC(25;0.065)																											p.R426W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1276T	16						.						87.0	82.0	83.0					16																	47117434		2203	4300	6503	45674935	SO:0001583	missense	81831	exon9			AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1276C>T	16.37:g.47117434G>A	ENSP00000455169:p.Arg426Trp	Somatic		Capture	SOLID	Phase_I	45674935	NM_018092	J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565128	0.45694	.	.	ENSG00000171208	ENST00000303155	T	0.44881	0.91	5.78	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	L	0.47716	1.5	0.54753	D	0.999989	B;B;B	0.29301	0.241;0.153;0.238	B;B;B	0.25759	0.063;0.018;0.04	T	0.23190	-1.0195	10	0.54805	T	0.06	.	14.2876	0.66256	0.0:0.0:0.5757:0.4243	.	283;426;102	B7Z4I7;Q8NC67;Q8NC67-2	.;NETO2_HUMAN;.	W	426	ENSP00000306726:R426W	ENSP00000306726:R426W	R	-	1	2	NETO2	45674935	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	1.196000	0.32198	1.398000	0.46701	0.655000	0.94253	CGG		0.532	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092	
LONP2	83752	hgsc.bcm.edu	37	16	48382147	48382147	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:48382147A>G	ENST00000285737.4	+	14	2376	c.2283A>G	c.(2281-2283)gtA>gtG	p.V761V	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Silent_p.V717V	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal									p.V761V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGCGGCTGGTACGTTCAGATG	0.408																																					p.V761V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2283G	16						.						138.0	137.0	137.0					16																	48382147		2200	4300	6500	46939648	SO:0001819	synonymous_variant	83752	exon14			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2283A>G	16.37:g.48382147A>G		Somatic		Capture	SOLID	Phase_I	46939648	NM_031490		Silent	SNP	ENST00000285737.4	37	CCDS10734.1																																																																																				0.408	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490	
BRD7	29117	hgsc.bcm.edu	37	16	50367502	50367502	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:50367502G>A	ENST00000394688.3	-	8	1153	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	BRD7_ENST00000394689.2_Missense_Mutation_p.R332W			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	332					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R332W(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTCACAAGCCGCCTGGTCAGC	0.408																																					p.R332W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C994T	16						.						194.0	198.0	197.0					16																	50367502		2198	4300	6498	48925003	SO:0001583	missense	29117	exon8			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.994C>T	16.37:g.50367502G>A	ENSP00000378180:p.Arg332Trp	Somatic		Capture	SOLID	Phase_I	48925003	NM_013263	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796770	0.31777	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.49432	0.78;0.78	5.24	0.0349	0.14185	.	0.046041	0.85682	N	0.000000	T	0.45696	0.1355	M	0.70275	2.135	0.53005	D	0.999966	P;P	0.38767	0.646;0.593	B;B	0.35510	0.204;0.129	T	0.60332	-0.7284	10	0.72032	D	0.01	-8.8073	15.8141	0.78586	0.0:0.0:0.3998:0.6002	.	332;332	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	W	332	ENSP00000378180:R332W;ENSP00000378181:R332W	ENSP00000378180:R332W	R	-	1	2	BRD7	48925003	0.484000	0.25964	0.978000	0.43139	0.573000	0.36030	0.297000	0.19101	0.260000	0.21731	-0.230000	0.12252	CGG		0.408	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263	
RBL2	5934	hgsc.bcm.edu	37	16	53524070	53524070	+	Missense_Mutation	SNP	G	G	A	rs17853303		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:53524070G>A	ENST00000262133.6	+	22	3415	c.3278G>A	c.(3277-3279)cGc>cAc	p.R1093H	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.R472H	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1093				R -> H (in Ref. 5; AAH34490). {ECO:0000305}.	chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.R1093H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGTATGATACGCACAGGAGAA	0.338																																					p.R1093H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3278A	16						.						64.0	67.0	66.0					16																	53524070		2198	4300	6498	52081571	SO:0001583	missense	5934	exon22			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3278G>A	16.37:g.53524070G>A	ENSP00000262133:p.Arg1093His	Somatic		Capture	SOLID	Phase_I	52081571	NM_005611	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142717	0.94560	.	.	ENSG00000103479	ENST00000262133;ENST00000379935;ENST00000544545	T;T	0.54479	0.57;0.57	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72748	0.3499	M	0.66297	2.02	0.32490	N	0.540346	D;D;D	0.89917	1.0;0.988;1.0	D;P;D	0.80764	0.994;0.639;0.993	T	0.76597	-0.2901	10	0.66056	D	0.02	-19.3875	20.0401	0.97581	0.0:0.0:1.0:0.0	rs17853303	472;803;1093	B7Z913;E9PG04;Q08999	.;.;RBL2_HUMAN	H	1093;803;472	ENSP00000262133:R1093H;ENSP00000444685:R472H	ENSP00000262133:R1093H	R	+	2	0	RBL2	52081571	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.370000	0.52372	2.805000	0.96524	0.655000	0.94253	CGC		0.338	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611	
NLRC5	84166	hgsc.bcm.edu	37	16	57059295	57059295	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:57059295A>G	ENST00000262510.6	+	6	665	c.440A>G	c.(439-441)tAc>tGc	p.Y147C	NLRC5_ENST00000539144.1_Missense_Mutation_p.Y147C|NLRC5_ENST00000308149.7_Missense_Mutation_p.Y147C|NLRC5_ENST00000436936.1_Missense_Mutation_p.Y147C	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	147					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.Y147C(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCCAAGAAGTACCTGCAGCTC	0.622																																					p.Y147C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A440G	16						.						84.0	89.0	88.0					16																	57059295		2198	4300	6498	55616796	SO:0001583	missense	84166	exon6			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.440A>G	16.37:g.57059295A>G	ENSP00000262510:p.Tyr147Cys	Somatic		Capture	SOLID	Phase_I	55616796	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676464	0.67928	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;D;T	0.82255	-1.4;-1.44;-1.59;-1.44	5.28	5.28	0.74379	.	0.000000	0.31589	N	0.007400	D	0.88507	0.6455	M	0.72894	2.215	0.35817	D	0.824337	D	0.62365	0.991	P	0.60609	0.877	D	0.91963	0.5580	10	0.54805	T	0.06	.	12.9435	0.58359	1.0:0.0:0.0:0.0	.	147	Q86WI3	NLRC5_HUMAN	C	147	ENSP00000262510:Y147C;ENSP00000308886:Y147C;ENSP00000389739:Y147C;ENSP00000441727:Y147C	ENSP00000262510:Y147C	Y	+	2	0	NLRC5	55616796	1.000000	0.71417	0.993000	0.49108	0.893000	0.52053	5.558000	0.67319	2.002000	0.58637	0.459000	0.35465	TAC		0.622	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
GPR114	221188	hgsc.bcm.edu	37	16	57609436	57609436	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:57609436C>G	ENST00000340339.4	+	12	2096	c.1573C>G	c.(1573-1575)Caa>Gaa	p.Q525E	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.Q525E	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	525					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q525E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CAGCTCCTCCCAAACAACACA	0.602																																					p.Q525E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1573G	16						.						59.0	54.0	56.0					16																	57609436		2198	4300	6498	56166937	SO:0001583	missense	221188	exon12			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1573C>G	16.37:g.57609436C>G	ENSP00000342981:p.Gln525Glu	Somatic		Capture	SOLID	Phase_I	56166937	NM_153837	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188529	0.57909	.	.	ENSG00000159618	ENST00000340339	T	0.28895	1.59	4.09	3.13	0.36017	.	.	.	.	.	T	0.44030	0.1274	L	0.47716	1.5	0.25653	N	0.986078	D	0.58970	0.984	D	0.68192	0.956	T	0.13710	-1.0499	9	0.45353	T	0.12	.	8.9511	0.35790	0.0:0.8949:0.0:0.1051	.	525	Q8IZF4	GP114_HUMAN	E	525	ENSP00000342981:Q525E	ENSP00000342981:Q525E	Q	+	1	0	GPR114	56166937	1.000000	0.71417	0.998000	0.56505	0.683000	0.39861	0.964000	0.29306	1.074000	0.40909	0.591000	0.81541	CAA		0.602	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837	
CDH8	1006	hgsc.bcm.edu	37	16	61854885	61854885	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:61854885A>G	ENST00000577390.1	-	6	1922	c.968T>C	c.(967-969)cTt>cCt	p.L323P	CDH8_ENST00000584337.1_Missense_Mutation_p.L323P|CDH8_ENST00000577730.1_Missense_Mutation_p.L323P|CDH8_ENST00000299345.6_Missense_Mutation_p.L323P	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	323	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.L323H(1)|p.L323P(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATTTCAAAAAGTGCTGTTCC	0.403																																					p.L323P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T968C	16						.						172.0	138.0	149.0					16																	61854885		2203	4300	6503	60412386	SO:0001583	missense	1006	exon6			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.968T>C	16.37:g.61854885A>G	ENSP00000462701:p.Leu323Pro	Somatic		Capture	SOLID	Phase_I	60412386	NM_001796	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985386	0.74474	.	.	ENSG00000150394	ENST00000299345	T	0.03745	3.82	6.16	6.16	0.99307	Cadherin (4);Cadherin-like (1);	0.181883	0.49305	D	0.000155	T	0.11707	0.0285	L	0.37561	1.115	0.58432	D	0.999999	P;P	0.50272	0.933;0.736	D;P	0.63703	0.917;0.712	T	0.01702	-1.1292	10	0.54805	T	0.06	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	139;323	Q3LID3;P55286	.;CADH8_HUMAN	P	323	ENSP00000299345:L323P	ENSP00000299345:L323P	L	-	2	0	CDH8	60412386	0.696000	0.27757	0.998000	0.56505	0.980000	0.70556	5.886000	0.69743	2.367000	0.80283	0.528000	0.53228	CTT		0.403	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
CDH11	1009	hgsc.bcm.edu	37	16	64981793	64981793	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:64981793A>G	ENST00000268603.4	-	13	2719	c.2104T>C	c.(2104-2106)Tac>Cac	p.Y702H	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.Y576H	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	702					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y702H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTAGGCATGTACTGATACTCA	0.522			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																											p.Y702H			Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2104C	16						.						135.0	128.0	130.0					16																	64981793		2203	4300	6503	63539294	SO:0001583	missense	1009	exon13			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2104T>C	16.37:g.64981793A>G	ENSP00000268603:p.Tyr702His	Somatic		Capture	SOLID	Phase_I	63539294	NM_001797	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.715271	0.48622	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.76060	-0.99	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.054697	0.85682	D	0.000000	T	0.76054	0.3934	L	0.31926	0.97	0.80722	D	1	D	0.55800	0.973	P	0.59115	0.852	T	0.71182	-0.4668	10	0.15499	T	0.54	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	702	P55287	CAD11_HUMAN	H	702;685	ENSP00000268603:Y702H	ENSP00000268603:Y702H	Y	-	1	0	CDH11	63539294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TAC		0.522	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664	
C16orf70	80262	hgsc.bcm.edu	37	16	67168148	67168148	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:67168148C>T	ENST00000219139.3	+	7	716	c.528C>T	c.(526-528)ggC>ggT	p.G176G	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.G176G	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	176								p.G176G(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TCTACAGTGGCAACAGCCTGC	0.488																																					p.G176G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C528T	16						.						125.0	125.0	125.0					16																	67168148		2200	4300	6500	65725649	SO:0001819	synonymous_variant	80262	exon7			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.528C>T	16.37:g.67168148C>T		Somatic		Capture	SOLID	Phase_I	65725649	NM_025187	Q9HA86	Silent	SNP	ENST00000219139.3	37	CCDS10828.1																																																																																				0.488	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187	
ESRP2	80004	hgsc.bcm.edu	37	16	68264913	68264913	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:68264913A>G	ENST00000565858.1	-	13	1845	c.1759T>C	c.(1759-1761)Tac>Cac	p.Y587H	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.Y577H	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	587					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y577H(2)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						AAGGTGGTGTAGGTAGGTGGT	0.617																																					p.Y577H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1729C	16						.						150.0	144.0	146.0					16																	68264913		2198	4300	6498	66822414	SO:0001583	missense	80004	exon13			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1759T>C	16.37:g.68264913A>G	ENSP00000454554:p.Tyr587His	Somatic		Capture	SOLID	Phase_I	66822414	NM_024939	Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37		.	.	.	.	.	.	.	.	.	.	A	16.30	3.083809	0.55861	.	.	ENSG00000103067	ENST00000473183	T	0.10477	2.87	5.94	5.94	0.96194	.	0.183134	0.49916	D	0.000129	T	0.28134	0.0694	M	0.66939	2.045	0.53005	D	0.999961	D;D	0.63046	0.983;0.992	P;D	0.64042	0.713;0.921	T	0.03463	-1.1034	10	0.16896	T	0.51	-6.082	16.3951	0.83601	1.0:0.0:0.0:0.0	.	587;577	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	H	577	ENSP00000418748:Y577H	ENSP00000418748:Y577H	Y	-	1	0	ESRP2	66822414	1.000000	0.71417	0.971000	0.41717	0.966000	0.64601	8.672000	0.91181	2.272000	0.75746	0.460000	0.39030	TAC		0.617	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939	
WWP2	11060	hgsc.bcm.edu	37	16	69833188	69833188	+	Silent	SNP	T	T	C	rs185778994	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:69833188T>C	ENST00000359154.2	+	4	431	c.330T>C	c.(328-330)aaT>aaC	p.N110N	WWP2_ENST00000448661.1_Silent_p.N110N|WWP2_ENST00000569174.1_Silent_p.N110N|WWP2_ENST00000356003.2_Silent_p.N110N|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	110					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|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 transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.N110N(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAAGAACAATGGGGGCAAAA	0.502													T|||	2	0.000399361	0.0	0.0	5008	,	,		21273	0.002		0.0	False		,,,				2504	0.0				p.N110N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T330C	16						.						72.0	65.0	67.0					16																	69833188		2198	4300	6498	68390689	SO:0001819	synonymous_variant	11060	exon5			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.330T>C	16.37:g.69833188T>C		Somatic		Capture	SOLID	Phase_I	68390689	NM_199423	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	CCDS10885.1																																																																																				0.502	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014	
ST3GAL2	6483	hgsc.bcm.edu	37	16	70417119	70417119	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:70417119A>C	ENST00000393640.4	-	4	2840	c.733T>G	c.(733-735)Tcc>Gcc	p.S245A	ST3GAL2_ENST00000342907.2_Missense_Mutation_p.S245A|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	245					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.S245A(1)|p.S245P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CGAAGGAAGGACTTCACTGGG	0.527																																					p.S245A												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.T733G	16						.						86.0	80.0	82.0					16																	70417119		2198	4300	6498	68974620	SO:0001583	missense	6483	exon5			U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"""Sialyltransferases"""	10863	protein-coding gene	gene with protein product		607188	"""sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.733T>G	16.37:g.70417119A>C	ENSP00000377257:p.Ser245Ala	Somatic		Capture	SOLID	Phase_I	68974620	NM_006927	O00654	Missense_Mutation	SNP	ENST00000393640.4	37	CCDS10890.1	.	.	.	.	.	.	.	.	.	.	A	8.396	0.840953	0.16891	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.29397	1.57;1.57	4.72	4.72	0.59763	.	0.177421	0.51477	D	0.000083	T	0.12689	0.0308	N	0.12611	0.24	0.28293	N	0.923464	B	0.06786	0.001	B	0.09377	0.004	T	0.24870	-1.0148	10	0.09084	T	0.74	-9.9266	3.9268	0.09267	0.6571:0.2088:0.1341:0.0	.	245	Q16842	SIA4B_HUMAN	A	245	ENSP00000345477:S245A;ENSP00000377257:S245A	ENSP00000345477:S245A	S	-	1	0	ST3GAL2	68974620	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.628000	0.61282	2.004000	0.58718	0.528000	0.53228	TCC		0.527	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927	
DHX38	9785	hgsc.bcm.edu	37	16	72130124	72130124	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:72130124G>T	ENST00000268482.3	+	2	577	c.68G>T	c.(67-69)gGt>gTt	p.G23V	DHX38_ENST00000536867.1_Missense_Mutation_p.G23V|TXNL4B_ENST00000268483.3_5'Flank|TXNL4B_ENST00000423037.1_5'Flank|TXNL4B_ENST00000426362.2_5'Flank	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	23					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|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)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.G23V(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGTCAGGTTGGTGGTCTTATT	0.552																																					p.G23V	Melanoma(97;711 1442 7855 13832 28836)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G68T	16						.						87.0	67.0	74.0					16																	72130124		2198	4300	6498	70687625	SO:0001583	missense	9785	exon2			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.68G>T	16.37:g.72130124G>T	ENSP00000268482:p.Gly23Val	Somatic		Capture	SOLID	Phase_I	70687625	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074717	0.76415	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.39056	3.0;1.1	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.85777	2.775	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.76162	-0.3060	10	0.87932	D	0	.	18.0135	0.89231	0.0:0.0:1.0:0.0	.	23;23	B4DVG8;Q92620	.;PRP16_HUMAN	V	23	ENSP00000268482:G23V;ENSP00000437898:G23V	ENSP00000268482:G23V	G	+	2	0	DHX38	70687625	1.000000	0.71417	0.980000	0.43619	0.723000	0.41478	8.870000	0.92336	2.314000	0.78098	0.561000	0.74099	GGT		0.552	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003	
DHX38	9785	hgsc.bcm.edu	37	16	72146368	72146368	+	Missense_Mutation	SNP	G	G	A	rs577985660		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:72146368G>A	ENST00000268482.3	+	27	4165	c.3656G>A	c.(3655-3657)cGc>cAc	p.R1219H	DHX38_ENST00000536867.1_Missense_Mutation_p.R531H|PMFBP1_ENST00000537792.1_3'UTR	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1219					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|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)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R1219H(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ATGACCCCTCGCCGCACGCCA	0.627																																					p.R1219H	Melanoma(97;711 1442 7855 13832 28836)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3656A	16						.						77.0	70.0	72.0					16																	72146368		2198	4300	6498	70703869	SO:0001583	missense	9785	exon27			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.3656G>A	16.37:g.72146368G>A	ENSP00000268482:p.Arg1219His	Somatic		Capture	SOLID	Phase_I	70703869	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377952	0.61735	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.10960	3.93;2.82	5.29	5.29	0.74685	.	0.250405	0.38492	N	0.001673	T	0.22781	0.0550	L	0.41492	1.28	0.80722	D	1	B;D	0.71674	0.088;0.998	B;P	0.60068	0.016;0.868	T	0.00115	-1.2038	10	0.62326	D	0.03	.	17.2889	0.87150	0.0:0.0:1.0:0.0	.	531;1219	B4DVG8;Q92620	.;PRP16_HUMAN	H	1219;531	ENSP00000268482:R1219H;ENSP00000437898:R531H	ENSP00000268482:R1219H	R	+	2	0	DHX38	70703869	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.570000	0.60872	2.752000	0.94435	0.655000	0.94253	CGC		0.627	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003	
BCO1	53630	hgsc.bcm.edu	37	16	81324180	81324180	+	Nonstop_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:81324180T>C	ENST00000258168.2	+	11	2103	c.1642T>C	c.(1642-1644)Tga>Cga	p.*548R	BCMO1_ENST00000425577.2_Nonstop_Mutation_p.*479R	NM_017429.2	NP_059125.2												p.*548R(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TCCTCTGACCTGATGGTGTTG	0.547																																					p.X548R												.	.	1	Nonstop extension(1)	large_intestine(1)	c.T1642C	16						.						55.0	57.0	56.0					16																	81324180		2202	4300	6502	79881681	SO:0001578	stop_lost	53630	exon11																														ENST00000258168.2:c.1642T>C	16.37:g.81324180T>C	ENSP00000258168:p.*548Argext*60	Somatic		Capture	SOLID	Phase_I	79881681	NM_017429		Missense_Mutation	SNP	ENST00000258168.2	37	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	T	8.597	0.885839	0.17540	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	.	.	.	4.32	2.02	0.26589	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9394	0.13958	0.1853:0.0:0.1934:0.6212	.	.	.	.	R	548;479	.	.	X	+	1	0	BCMO1	79881681	0.586000	0.26782	0.068000	0.19968	0.007000	0.05969	0.690000	0.25451	0.289000	0.22422	0.529000	0.55759	TGA		0.547	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1		
COX4I1	1327	hgsc.bcm.edu	37	16	85839441	85839441	+	Missense_Mutation	SNP	C	C	T	rs375895416		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:85839441C>T	ENST00000562336.1	+	4	537	c.344C>T	c.(343-345)gCg>gTg	p.A115V	COX4I1_ENST00000561569.1_Missense_Mutation_p.A115V|COX4I1_ENST00000568794.1_Missense_Mutation_p.A115V|COX4I1_ENST00000253452.2_Missense_Mutation_p.A115V|COX4I1_ENST00000564903.1_Missense_Mutation_p.A115V			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	115					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-c oxidase activity (GO:0004129)	p.A115V(1)		endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				GGTTTCACCGCGCTCGTTATC	0.567																																					p.A115V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C344T	16						.	C	VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	173.0	148.0	156.0		344	0.5	0.0	16		156	0,8600		0,0,4300	no	missense	COX4I1	NM_001861.3	64	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	115/170	85839441	1,12995	2198	4300	6498	84396942	SO:0001583	missense	1327	exon4			AF005889	CCDS10955.1	16q24.1	2012-10-02	2001-11-30	2001-12-07	ENSG00000131143	ENSG00000131143	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2265	protein-coding gene	gene with protein product		123864	"""cytochrome c oxidase subunit IV"""	COX4		2444497, 2157630	Standard	NM_001861		Approved	COX4-1	uc002fje.3	P13073	OTTHUMG00000137649	ENST00000562336.1:c.344C>T	16.37:g.85839441C>T	ENSP00000457513:p.Ala115Val	Somatic		Capture	SOLID	Phase_I	84396942	NM_001861	B2R4J2|D3DUM7|Q6P666	Missense_Mutation	SNP	ENST00000562336.1	37	CCDS10955.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.946129	0.34377	2.27E-4	0.0	ENSG00000131143	ENST00000253452	T	0.52295	0.67	4.93	0.473	0.16763	.	0.214788	0.47852	D	0.000219	T	0.48519	0.1504	M	0.61703	1.905	0.29236	N	0.87296	D	0.67145	0.996	P	0.48654	0.585	T	0.57015	-0.7883	10	0.06625	T	0.88	-14.3979	19.3967	0.94610	0.0:0.408:0.592:0.0	.	115	P13073	COX41_HUMAN	V	115	ENSP00000253452:A115V	ENSP00000253452:A115V	A	+	2	0	COX4I1	84396942	0.722000	0.28017	0.001000	0.08648	0.005000	0.04900	1.050000	0.30404	-0.047000	0.13423	0.655000	0.94253	GCG		0.567	COX4I1-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430873.1	NM_001861	
GRIN2A	2903	hgsc.bcm.edu	37	16	9858132	9858132	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:9858132A>G	ENST00000396573.2	-	14	3578	c.3269T>C	c.(3268-3270)gTg>gCg	p.V1090A	GRIN2A_ENST00000535259.1_Missense_Mutation_p.V933A|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V1090A|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V1090A|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V1090A|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V1090A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1090					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.V1090A(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTTGGAGGCCACTGACCTTTT	0.488																																					p.V1090A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3269C	16						.						137.0	126.0	130.0					16																	9858132		2197	4300	6497	9765633	SO:0001583	missense	2903	exon13				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3269T>C	16.37:g.9858132A>G	ENSP00000379818:p.Val1090Ala	Somatic		Capture	SOLID	Phase_I	9765633	NM_001134408	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.636062	0.00806	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.10192	2.91;2.9;2.9;2.91;2.91	5.43	0.218	0.15270	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.813871	0.11852	N	0.523257	T	0.05547	0.0146	N	0.17082	0.46	0.25465	N	0.987887	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.12156	0.002;0.007;0.003	T	0.44003	-0.9356	9	.	.	.	.	5.0687	0.14594	0.5423:0.2857:0.172:0.0	.	933;1090;1090	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	A	1090;1090;933;1090;1090	ENSP00000379818:V1090A;ENSP00000385872:V1090A;ENSP00000441572:V933A;ENSP00000332549:V1090A;ENSP00000379820:V1090A	.	V	-	2	0	GRIN2A	9765633	0.062000	0.20869	0.143000	0.22291	0.787000	0.44495	0.867000	0.27968	0.045000	0.15804	-0.264000	0.10439	GTG		0.488	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
ITGAD	3681	hgsc.bcm.edu	37	16	31427905	31427905	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:31427905G>A	ENST00000389202.2	+	20	2486	c.2437G>A	c.(2437-2439)Gga>Aga	p.G813R		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	813					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.G813R(1)|p.G813*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGATTCCTACGGAACCGTGGT	0.612																																					p.G813R												ITGAD,skin,NS,Substitution - Missense,0	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(1)|skin(1)	c.G2437A	16						.						114.0	103.0	107.0					16																	31427905		2197	4300	6497	31335406	SO:0001583	missense	3681	exon20			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2437G>A	16.37:g.31427905G>A	ENSP00000373854:p.Gly813Arg	Somatic		Capture	SOLID	Phase_I	31335406	NM_005353	Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	5.449	0.267919	0.10349	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.44881	0.91	4.77	-1.19	0.09585	Integrin alpha-2 (1);	.	.	.	.	T	0.27489	0.0675	N	0.11845	0.185	0.09310	N	1	D;D	0.64830	0.994;0.988	P;P	0.50970	0.655;0.655	T	0.21999	-1.0229	9	0.23891	T	0.37	.	5.9221	0.19088	0.3619:0.1345:0.5036:0.0	.	829;813	Q59H14;Q13349	.;ITAD_HUMAN	R	829;813	ENSP00000373854:G813R	ENSP00000373854:G813R	G	+	1	0	ITGAD	31335406	0.001000	0.12720	0.024000	0.17045	0.015000	0.08874	0.084000	0.14891	0.075000	0.16796	0.650000	0.86243	GGA		0.612	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
ZCCHC14	23174	hgsc.bcm.edu	37	16	87446244	87446244	+	Missense_Mutation	SNP	C	C	T	rs141001038	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr16:87446244C>T	ENST00000268616.4	-	12	1889	c.1672G>A	c.(1672-1674)Gcc>Acc	p.A558T		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	558							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.A558T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TCCATCATGGCGCTGCCAAAG	0.557													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19368	0.0		0.0	False		,,,				2504	0.0				p.A558T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1672A	16						.	C	THR/ALA	7,4389	12.9+/-30.5	0,7,2191	87.0	90.0	89.0		1672	-3.4	0.0	16	dbSNP_134	89	0,8600		0,0,4300	yes	missense	ZCCHC14	NM_015144.2	58	0,7,6491	TT,TC,CC		0.0,0.1592,0.0539	benign	558/950	87446244	7,12989	2198	4300	6498	86003745	SO:0001583	missense	23174	exon12			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1672G>A	16.37:g.87446244C>T	ENSP00000268616:p.Ala558Thr	Somatic		Capture	SOLID	Phase_I	86003745	NM_015144	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	2.794	-0.250716	0.05867	0.001592	0.0	ENSG00000140948	ENST00000268616	T	0.18016	2.24	5.57	-3.4	0.04853	.	0.682365	0.14913	N	0.291113	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	1	B;B	0.33379	0.41;0.287	B;B	0.22753	0.041;0.01	T	0.42816	-0.9429	10	0.14656	T	0.56	-10.0337	7.735	0.28808	0.0:0.2761:0.28:0.4439	.	558;558	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	T	558	ENSP00000268616:A558T	ENSP00000268616:A558T	A	-	1	0	ZCCHC14	86003745	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.892000	0.04131	-0.217000	0.10033	-0.214000	0.12660	GCC		0.557	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	
KCTD1	284252	hgsc.bcm.edu	37	18	24039663	24039663	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr18:24039663A>G	ENST00000408011.3	-	4	1095	c.536T>C	c.(535-537)gTc>gCc	p.V179A	KCTD1_ENST00000417602.1_Missense_Mutation_p.V787A|KCTD1_ENST00000317932.7_Missense_Mutation_p.V179A|KCTD1_ENST00000579973.1_Missense_Mutation_p.V179A|KCTD1_ENST00000580059.1_Missense_Mutation_p.V179A	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	179					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.V179A(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)			GCCTGCATTGACAGAGTTACA	0.502																																					p.V179A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T536C	18						.						174.0	141.0	152.0					18																	24039663		2203	4300	6503	22293661	SO:0001583	missense	284252	exon5			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.536T>C	18.37:g.24039663A>G	ENSP00000384367:p.Val179Ala	Somatic		Capture	SOLID	Phase_I	22293661	NM_198991	A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.062157	0.36373	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;T;T	0.77877	-0.72;-1.13;-0.72	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	L	0.41236	1.265	0.58432	D	0.999998	B	0.11235	0.004	B	0.06405	0.002	T	0.64127	-0.6480	10	0.18276	T	0.48	.	15.3672	0.74531	1.0:0.0:0.0:0.0	.	179	Q719H9	KCTD1_HUMAN	A	179;787;179	ENSP00000314831:V179A;ENSP00000408405:V787A;ENSP00000384367:V179A	ENSP00000314831:V179A	V	-	2	0	KCTD1	22293661	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.069000	0.76755	2.036000	0.60181	0.533000	0.62120	GTC		0.502	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091	
EMILIN2	84034	hgsc.bcm.edu	37	18	2892271	2892271	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr18:2892271C>A	ENST00000254528.3	+	4	2305	c.2146C>A	c.(2146-2148)Ctg>Atg	p.L716M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	716					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.L716M(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TTGCAGCAAGCTGGACTCTAT	0.547																																					p.L716M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2146A	18						.						81.0	83.0	82.0					18																	2892271		2203	4300	6503	2882271	SO:0001583	missense	84034	exon4			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2146C>A	18.37:g.2892271C>A	ENSP00000254528:p.Leu716Met	Somatic		Capture	SOLID	Phase_I	2882271	NM_032048	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.221529	0.39300	.	.	ENSG00000132205	ENST00000254528	T	0.36157	1.27	5.48	2.68	0.31781	.	0.231037	0.30142	N	0.010319	T	0.56277	0.1974	M	0.76002	2.32	0.44843	D	0.997851	D	0.89917	1.0	D	0.91635	0.999	T	0.57087	-0.7871	10	0.62326	D	0.03	-12.4611	10.2438	0.43328	0.0:0.727:0.0:0.273	.	716	Q9BXX0	EMIL2_HUMAN	M	716	ENSP00000254528:L716M	ENSP00000254528:L716M	L	+	1	2	EMILIN2	2882271	1.000000	0.71417	0.918000	0.36340	0.111000	0.19643	1.152000	0.31663	0.661000	0.30985	0.563000	0.77884	CTG		0.547	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048	
CDH2	1000	hgsc.bcm.edu	37	18	25573487	25573487	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr18:25573487G>A	ENST00000269141.3	-	8	1558	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	CDH2_ENST00000399380.3_Missense_Mutation_p.P348S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	379	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.P379S(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AACTCTGGAGGATTGTCATTG	0.443																																					p.P379S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1135T	18						.						301.0	257.0	272.0					18																	25573487		2203	4300	6503	23827485	SO:0001583	missense	1000	exon8			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1135C>T	18.37:g.25573487G>A	ENSP00000269141:p.Pro379Ser	Somatic		Capture	SOLID	Phase_I	23827485	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662349	0.67700	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.60672	0.17;0.17	5.87	5.87	0.94306	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.103756	0.64402	D	0.000002	T	0.67961	0.2949	L	0.35644	1.08	0.58432	D	0.999998	D;D	0.71674	0.974;0.998	P;P	0.61477	0.752;0.889	T	0.68209	-0.5469	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	348;379	A8MWK3;P19022	.;CADH2_HUMAN	S	379;348	ENSP00000269141:P379S;ENSP00000382312:P348S	ENSP00000269141:P379S	P	-	1	0	CDH2	23827485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.336000	0.72954	2.941000	0.99782	0.655000	0.94253	CCT		0.443	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
DTNA	1837	hgsc.bcm.edu	37	18	32398155	32398155	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr18:32398155G>C	ENST00000399113.3	+	7	737	c.737G>C	c.(736-738)tGc>tCc	p.C246S	DTNA_ENST00000595022.1_Missense_Mutation_p.C246S|DTNA_ENST00000597674.1_5'Flank|DTNA_ENST00000269191.6_Missense_Mutation_p.C246S|DTNA_ENST00000283365.9_Missense_Mutation_p.C246S|DTNA_ENST00000597599.1_Missense_Mutation_p.C246S|DTNA_ENST00000556414.3_5'Flank|DTNA_ENST00000598774.1_Missense_Mutation_p.C246S|DTNA_ENST00000269190.7_Missense_Mutation_p.C246S|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000599844.1_5'Flank|DTNA_ENST00000348997.5_Missense_Mutation_p.C246S|DTNA_ENST00000554864.3_Missense_Mutation_p.C246S|DTNA_ENST00000399121.5_Missense_Mutation_p.C246S|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000591182.1_5'Flank|AC068506.1_ENST00000408482.1_RNA|DTNA_ENST00000598334.1_Missense_Mutation_p.C246S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000315456.6_Missense_Mutation_p.C246S|DTNA_ENST00000269192.7_5'Flank|DTNA_ENST00000444659.1_Missense_Mutation_p.C246S|DTNA_ENST00000598142.1_Missense_Mutation_p.C246S			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	246	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.C246S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TGTTCCTACTGCCACAGTGAG	0.463																																					p.C246S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G737C	18						.						166.0	141.0	149.0					18																	32398155		2203	4300	6503	30652153	SO:0001583	missense	1837	exon9			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.737G>C	18.37:g.32398155G>C	ENSP00000382064:p.Cys246Ser	Somatic		Capture	SOLID	Phase_I	30652153	NM_001198938	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030636	0.93575	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	D;D;D;D;D;D;D;D	0.99652	-6.3;-6.3;-6.3;-6.3;-6.3;-6.3;-6.3;-6.3	5.87	5.87	0.94306	Zinc finger, ZZ-type (4);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.97852	4.09	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;0.997;1.0;1.0;1.0;1.0;0.989;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.995;0.998;0.987;0.995;0.998;0.992;0.999;0.987;0.985;0.999	D	0.96921	0.9674	10	0.87932	D	0	-13.8436	20.2084	0.98285	0.0:0.0:1.0:0.0	.	246;246;246;246;246;246;257;246;246;246;246	Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	S	246	ENSP00000283365:C246S;ENSP00000322519:C246S;ENSP00000269190:C246S;ENSP00000336682:C246S;ENSP00000382072:C246S;ENSP00000405819:C246S;ENSP00000269191:C246S;ENSP00000382064:C246S	ENSP00000269190:C246S	C	+	2	0	DTNA	30652153	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.774000	0.95407	0.650000	0.86243	TGC		0.463	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390	
FHOD3	80206	hgsc.bcm.edu	37	18	34297915	34297915	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr18:34297915A>C	ENST00000359247.4	+	15	2078	c.2078A>C	c.(2077-2079)gAg>gCg	p.E693A	FHOD3_ENST00000257209.4_Missense_Mutation_p.E710A|FHOD3_ENST00000590592.1_Missense_Mutation_p.E885A|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000445677.1_Missense_Mutation_p.E672A|FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000591635.1_Intron	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	693					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.E710A(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCGGATGATGAGGAGAAGGGG	0.572																																					p.E710A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2129C	18						.						75.0	66.0	69.0					18																	34297915		2203	4300	6503	32551913	SO:0001583	missense	80206	exon16			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2078A>C	18.37:g.34297915A>C	ENSP00000352186:p.Glu693Ala	Somatic		Capture	SOLID	Phase_I	32551913	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	A	11.32	1.604898	0.28623	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.34275	1.37;1.4;1.38	4.85	4.85	0.62838	.	0.455245	0.23729	N	0.045143	T	0.48537	0.1505	L	0.54323	1.7	0.54753	D	0.999985	D;P;P	0.67145	0.996;0.951;0.557	P;B;B	0.58928	0.848;0.444;0.124	T	0.38329	-0.9666	10	0.30854	T	0.27	.	13.2769	0.60191	1.0:0.0:0.0:0.0	.	672;693;710	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	A	710;693;672	ENSP00000257209:E710A;ENSP00000352186:E693A;ENSP00000411430:E672A	ENSP00000257209:E710A	E	+	2	0	FHOD3	32551913	1.000000	0.71417	0.914000	0.36105	0.089000	0.18198	6.927000	0.75840	1.819000	0.53055	0.254000	0.18369	GAG		0.572	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
HAUS1	115106	hgsc.bcm.edu	37	18	43708078	43708078	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr18:43708078T>G	ENST00000282058.6	+	9	904	c.824T>G	c.(823-825)aTg>aGg	p.M275R	HAUS1_ENST00000585518.1_3'UTR|HAUS1_ENST00000588704.1_3'UTR	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	275					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.M275R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGAGTAGACATGATGGAACTG	0.333																																					p.M275R	NSCLC(79;183 1423 5813 15597 38427)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T824G	18						.						102.0	87.0	92.0					18																	43708078		2203	4298	6501	41962076	SO:0001583	missense	115106	exon9			AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.824T>G	18.37:g.43708078T>G	ENSP00000282058:p.Met275Arg	Somatic		Capture	SOLID	Phase_I	41962076	NM_138443	B2RDM7|Q8N837	Missense_Mutation	SNP	ENST00000282058.6	37	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138628	0.56936	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.06	5.06	0.68205	.	0.123722	0.85682	D	0.000000	T	0.62134	0.2403	M	0.66939	2.045	0.50313	D	0.999867	D	0.53151	0.958	P	0.48704	0.587	T	0.67256	-0.5716	9	0.66056	D	0.02	-25.3786	11.4884	0.50367	0.0:0.0:0.0:1.0	.	275	Q96CS2	HAUS1_HUMAN	R	275	.	ENSP00000282058:M275R	M	+	2	0	HAUS1	41962076	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.183000	0.58317	2.026000	0.59711	0.477000	0.44152	ATG		0.333	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443	
EPB41L3	23136	hgsc.bcm.edu	37	18	5394742	5394742	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr18:5394742T>C	ENST00000341928.2	-	22	3544	c.3204A>G	c.(3202-3204)tcA>tcG	p.S1068S	EPB41L3_ENST00000542146.1_Silent_p.S373S|EPB41L3_ENST00000540638.2_Silent_p.S846S|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Silent_p.S1068S|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Silent_p.S365S|EPB41L3_ENST00000400111.3_Silent_p.S846S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1068	C-terminal (CTD).				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.S1068S(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						CTTTGGTCACTGACATGTCAG	0.498																																					p.S1068S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3204G	18						.						247.0	195.0	213.0					18																	5394742		2203	4300	6503	5384742	SO:0001819	synonymous_variant	23136	exon22			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.3204A>G	18.37:g.5394742T>C		Somatic		Capture	SOLID	Phase_I	5384742	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	CCDS11838.1																																																																																				0.498	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
TCF4	6925	hgsc.bcm.edu	37	18	52924614	52924614	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr18:52924614C>A	ENST00000356073.4	-	14	1689	c.1078G>T	c.(1078-1080)Gct>Tct	p.A360S	TCF4_ENST00000568673.1_Missense_Mutation_p.A336S|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000564999.1_Missense_Mutation_p.A360S|TCF4_ENST00000354452.3_Missense_Mutation_p.A360S|TCF4_ENST00000561831.3_Missense_Mutation_p.A200S|TCF4_ENST00000543082.1_Missense_Mutation_p.A318S|TCF4_ENST00000457482.3_Missense_Mutation_p.A200S|TCF4_ENST00000537578.1_Missense_Mutation_p.A336S|TCF4_ENST00000565018.2_Missense_Mutation_p.A360S|TCF4_ENST00000568740.1_Missense_Mutation_p.A335S|TCF4_ENST00000540999.1_Missense_Mutation_p.A336S|TCF4_ENST00000544241.2_Missense_Mutation_p.A289S|TCF4_ENST00000537856.3_Missense_Mutation_p.A230S|TCF4_ENST00000566279.1_Missense_Mutation_p.A300S|TCF4_ENST00000566286.1_Missense_Mutation_p.A357S|TCF4_ENST00000564403.2_Missense_Mutation_p.A366S|TCF4_ENST00000567880.1_Missense_Mutation_p.A300S|TCF4_ENST00000564228.1_Missense_Mutation_p.A289S|TCF4_ENST00000398339.1_Missense_Mutation_p.A462S|TCF4_ENST00000561992.1_Missense_Mutation_p.A230S|TCF4_ENST00000570177.2_Missense_Mutation_p.A230S|TCF4_ENST00000570287.2_Missense_Mutation_p.A200S	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	360					DNA-templated transcription, initiation (GO:0006352)|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)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|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 RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)	p.A360S(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GACCAAACAGCTGTGCCTGCT	0.418																																					p.A360S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1078T	18						.						178.0	161.0	166.0					18																	52924614		2203	4300	6503	51075612	SO:0001583	missense	6925	exon14			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1078G>T	18.37:g.52924614C>A	ENSP00000348374:p.Ala360Ser	Somatic		Capture	SOLID	Phase_I	51075612	NM_001083962	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494967	0.26774	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.99	5.99	0.97316	.	0.051307	0.85682	N	0.000000	T	0.56366	0.1980	N	0.03154	-0.405	0.80722	D	1	B;B;B;B;B;B;B;B;P	0.42941	0.01;0.097;0.027;0.022;0.039;0.01;0.01;0.066;0.794	B;B;B;B;B;B;B;B;B	0.39805	0.019;0.042;0.042;0.023;0.043;0.019;0.019;0.093;0.31	T	0.63251	-0.6679	10	0.02654	T	1	-14.264	19.2492	0.93917	0.0:1.0:0.0:0.0	.	336;360;200;462;360;318;289;200;357	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	S	360;200;360;318;336;336;289;230;462	ENSP00000346440:A360S;ENSP00000409447:A200S;ENSP00000348374:A360S;ENSP00000439656:A318S;ENSP00000445202:A336S;ENSP00000440731:A336S;ENSP00000441562:A289S;ENSP00000439827:A230S;ENSP00000381382:A462S	ENSP00000346440:A360S	A	-	1	0	TCF4	51075612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.564000	0.53791	2.840000	0.97914	0.655000	0.94253	GCT		0.418	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199	
CDH19	28513	hgsc.bcm.edu	37	18	64235823	64235823	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr18:64235823C>A	ENST00000540086.1	-	3	566	c.320G>T	c.(319-321)aGa>aTa	p.R107I	CDH19_ENST00000262150.2_Missense_Mutation_p.R107I	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	215	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R107I(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCGCTCCTCTCTATCAAGCTT	0.433																																					p.R107I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G320T	18						.						140.0	134.0	136.0					18																	64235823		2203	4299	6502	62386803	SO:0001583	missense	28513	exon3			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.320G>T	18.37:g.64235823C>A	ENSP00000439593:p.Arg107Ile	Somatic		Capture	SOLID	Phase_I	62386803	NM_021153	O15098	Missense_Mutation	SNP	ENST00000540086.1	37	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306049	0.60305	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.59906	0.23;0.23	5.87	5.87	0.94306	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85102	0.5620	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.938	D	0.89396	0.3692	10	0.87932	D	0	.	19.2028	0.93717	0.0:1.0:0.0:0.0	.	107;107	F5H1K0;Q9H159	.;CAD19_HUMAN	I	107;107;52	ENSP00000262150:R107I;ENSP00000439593:R107I	ENSP00000262150:R107I	R	-	2	0	CDH19	62386803	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.377000	0.79668	2.785000	0.95823	0.591000	0.81541	AGA		0.433	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153	
ADNP2	22850	hgsc.bcm.edu	37	18	77875501	77875501	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr18:77875501A>T	ENST00000262198.4	+	2	531	c.76A>T	c.(76-78)Att>Ttt	p.I26F		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	26					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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.I26F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TCTTGTGGATATTGGGCTTGA	0.398																																					p.I26F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A76T	18						.						88.0	83.0	85.0					18																	77875501		2203	4300	6503	75976492	SO:0001583	missense	22850	exon2			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.76A>T	18.37:g.77875501A>T	ENSP00000262198:p.Ile26Phe	Somatic		Capture	SOLID	Phase_I	75976492	NM_014913	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773190	0.69992	.	.	ENSG00000101544	ENST00000262198	T	0.74842	-0.88	4.8	4.8	0.61643	.	0.094831	0.43579	D	0.000549	T	0.79616	0.4476	L	0.50333	1.59	0.38870	D	0.956672	D	0.67145	0.996	D	0.67548	0.952	T	0.79995	-0.1568	9	.	.	.	-25.2276	9.8605	0.41112	0.8286:0.1714:0.0:0.0	.	26	Q6IQ32	ADNP2_HUMAN	F	26	ENSP00000262198:I26F	.	I	+	1	0	ADNP2	75976492	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	1.965000	0.40471	2.022000	0.59522	0.383000	0.25322	ATT		0.398	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913	
SEC13	6396	hgsc.bcm.edu	37	3	10343028	10343028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:10343028G>A	ENST00000350697.3	-	9	1011	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	SEC13_ENST00000397109.3_Nonsense_Mutation_p.Q282*|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000383801.2_Nonsense_Mutation_p.Q342*|SEC13_ENST00000337354.4_Nonsense_Mutation_p.Q299*|SEC13_ENST00000492602.1_Intron	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	296					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.Q296*(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CACACCCACTGCCCATCAACT	0.567																																					p.Q282X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C844T	3						.						121.0	88.0	99.0					3																	10343028		2203	4300	6503	10318028	SO:0001587	stop_gained	6396	exon9				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.886C>T	3.37:g.10343028G>A	ENSP00000312122:p.Gln296*	Somatic		Capture	SOLID	Phase_I	10318028	NM_001136232	A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Nonsense_Mutation	SNP	ENST00000350697.3	37	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	G	36	5.830235	0.96996	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000383801	.	.	.	5.23	5.23	0.72850	.	0.054597	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	16.3231	0.82958	0.0:0.0:1.0:0.0	.	.	.	.	X	282;299;296;342	.	ENSP00000336566:Q299X	Q	-	1	0	SEC13	10318028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.648000	0.74359	2.433000	0.82419	0.655000	0.94253	CAG		0.567	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3		
ATP2B2	491	hgsc.bcm.edu	37	3	10400434	10400434	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:10400434T>C	ENST00000352432.4	-	13	2146	c.2077A>G	c.(2077-2079)Atc>Gtc	p.I693V	ATP2B2_ENST00000343816.4_Missense_Mutation_p.I679V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.I693V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.I648V|ATP2B2_ENST00000397077.1_Missense_Mutation_p.I648V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	693					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.I648V(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						TCGTTGAGGATGTCATTCTCA	0.642																																					p.I648V	Ovarian(125;1619 1709 15675 19819 38835)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1942G	3						.						76.0	59.0	65.0					3																	10400434		2203	4300	6503	10375434	SO:0001583	missense	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.2077A>G	3.37:g.10400434T>C	ENSP00000324172:p.Ile693Val	Somatic		Capture	SOLID	Phase_I	10375434	NM_001683	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493778	0.64186	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	4.65	4.65	0.58169	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.94381	0.8193	N	0.04387	-0.21	0.80722	D	1	P;B;B	0.45428	0.858;0.001;0.012	P;B;B	0.59357	0.856;0.009;0.059	D	0.92332	0.5874	10	0.13108	T	0.6	-26.1263	14.0964	0.65023	0.0:0.0:0.0:1.0	.	628;660;693	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	V	693;648;648;693;679;628;549;693	ENSP00000324172:I693V;ENSP00000373311:I648V;ENSP00000380267:I648V;ENSP00000353414:I693V;ENSP00000344677:I679V;ENSP00000414854:I549V	ENSP00000342954:I693V	I	-	1	0	ATP2B2	10375434	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.294000	0.72738	1.741000	0.51731	0.402000	0.26972	ATC		0.642	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
IMPG2	50939	hgsc.bcm.edu	37	3	100976500	100976500	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:100976500A>C	ENST00000193391.7	-	10	1213	c.1026T>G	c.(1024-1026)gaT>gaG	p.D342E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	342	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.D342E(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TGGGTTTATCATCCAGTTCCA	0.438																																					p.D342E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1026G	3						.						126.0	121.0	122.0					3																	100976500		2203	4300	6503	102459190	SO:0001583	missense	50939	exon10			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1026T>G	3.37:g.100976500A>C	ENSP00000193391:p.Asp342Glu	Somatic		Capture	SOLID	Phase_I	102459190	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	A	3.587	-0.084427	0.07097	.	.	ENSG00000081148	ENST00000193391	T	0.21031	2.03	5.21	-0.633	0.11519	SEA (1);	0.149852	0.45126	D	0.000381	T	0.06234	0.0161	N	0.05383	-0.06	0.26775	N	0.969728	B;B	0.21071	0.051;0.019	B;B	0.24701	0.055;0.032	T	0.27571	-1.0070	10	0.06757	T	0.87	-10.9615	0.8915	0.01255	0.4393:0.2182:0.1649:0.1776	.	342;342	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	E	342	ENSP00000193391:D342E	ENSP00000193391:D342E	D	-	3	2	IMPG2	102459190	0.333000	0.24731	0.999000	0.59377	0.849000	0.48306	-0.380000	0.07427	0.072000	0.16694	-1.342000	0.01247	GAT		0.438	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
DPPA4	55211	hgsc.bcm.edu	37	3	109049412	109049412	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:109049412G>A	ENST00000335658.6	-	5	692	c.638C>T	c.(637-639)gCg>gTg	p.A213V	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	213					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A213V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGGTGTCCTCGCCCTGGCTGA	0.502																																					p.A213V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C638T	3						.						51.0	54.0	53.0					3																	109049412		2203	4300	6503	110532102	SO:0001583	missense	55211	exon5			AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.638C>T	3.37:g.109049412G>A	ENSP00000335306:p.Ala213Val	Somatic		Capture	SOLID	Phase_I	110532102	NM_018189	A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887283	0.52014	.	.	ENSG00000121570	ENST00000335658	T	0.58358	0.34	4.04	3.13	0.36017	.	0.700648	0.12949	N	0.425976	T	0.70727	0.3257	M	0.80422	2.495	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.57985	-0.7716	9	.	.	.	-9.7439	9.6684	0.39998	0.0:0.2121:0.7879:0.0	.	203;213	B7Z5Q7;Q7L190	.;DPPA4_HUMAN	V	213	ENSP00000335306:A213V	.	A	-	2	0	DPPA4	110532102	0.041000	0.20044	0.001000	0.08648	0.023000	0.10783	3.345000	0.52182	1.244000	0.43870	0.491000	0.48974	GCG		0.502	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189	
SLC9C1	285335	hgsc.bcm.edu	37	3	111940038	111940038	+	Missense_Mutation	SNP	A	A	C	rs573499621		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:111940038A>C	ENST00000305815.5	-	14	1859	c.1607T>G	c.(1606-1608)cTg>cGg	p.L536R	SLC9C1_ENST00000487372.1_Missense_Mutation_p.L488R	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	536					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.L536R(1)									ACTCTGGGACAGAATCTCATT	0.373													A|||	1	0.000199681	0.0	0.0	5008	,	,		18686	0.001		0.0	False		,,,				2504	0.0				p.L536R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1607G	3						.						117.0	116.0	116.0					3																	111940038		2203	4300	6503	113422728	SO:0001583	missense	285335	exon14			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1607T>G	3.37:g.111940038A>C	ENSP00000306627:p.Leu536Arg	Somatic		Capture	SOLID	Phase_I	113422728	NM_183061	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001772	0.54254	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.85411	-1.89;-1.98	5.7	5.7	0.88788	.	0.000000	0.46442	D	0.000296	D	0.87834	0.6277	L	0.34521	1.04	0.27364	N	0.955878	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82343	-0.0504	10	0.87932	D	0	.	12.3536	0.55163	1.0:0.0:0.0:0.0	.	488;536	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	R	536;488	ENSP00000306627:L536R;ENSP00000420688:L488R	ENSP00000306627:L536R	L	-	2	0	SLC9A10	113422728	0.830000	0.29337	0.219000	0.23793	0.547000	0.35210	4.551000	0.60740	2.170000	0.68504	0.482000	0.46254	CTG		0.373	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
GRAMD1C	54762	hgsc.bcm.edu	37	3	113649643	113649643	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:113649643A>G	ENST00000358160.4	+	11	1665	c.1173A>G	c.(1171-1173)ccA>ccG	p.P391P	GRAMD1C_ENST00000452134.2_Silent_p.P120P|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Silent_p.P186P|GRAMD1C_ENST00000472026.1_Silent_p.P224P	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	391						integral component of membrane (GO:0016021)		p.P391P(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TTAATAGTCCACTTACTGGAA	0.448																																					p.P391P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1173G	3						.						146.0	137.0	140.0					3																	113649643		2203	4300	6503	115132333	SO:0001819	synonymous_variant	54762	exon11				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1173A>G	3.37:g.113649643A>G		Somatic		Capture	SOLID	Phase_I	115132333	NM_017577	A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	CCDS33826.1																																																																																				0.448	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577	
MAATS1	89876	hgsc.bcm.edu	37	3	119462946	119462946	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:119462946T>C	ENST00000273390.5	+	14	1882	c.1805T>C	c.(1804-1806)cTg>cCg	p.L602P	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	438						mitochondrion (GO:0005739)		p.L602P(1)									TTTGTCATGCTGGCTGAGCGC	0.587																																					p.L602P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1805C	3						.						91.0	82.0	85.0					3																	119462946		2203	4300	6503	120945636	SO:0001583	missense	89876	exon14			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1805T>C	3.37:g.119462946T>C	ENSP00000273390:p.Leu602Pro	Somatic		Capture	SOLID	Phase_I	120945636	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732294	0.89482	.	.	ENSG00000183833	ENST00000273390	T	0.31247	1.5	5.65	5.65	0.86999	.	0.075040	0.53938	D	0.000042	T	0.60818	0.2298	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.995	T	0.66352	-0.5945	10	0.56958	D	0.05	-12.9795	15.8795	0.79193	0.0:0.0:0.0:1.0	.	438;540;602	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	P	602	ENSP00000273390:L602P	ENSP00000273390:L602P	L	+	2	0	C3orf15	120945636	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.463000	0.80869	2.151000	0.67156	0.397000	0.26171	CTG		0.587	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364	
FBXO40	51725	hgsc.bcm.edu	37	3	121340693	121340693	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:121340693A>G	ENST00000338040.4	+	3	831	c.417A>G	c.(415-417)agA>agG	p.R139R		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	139					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R139R(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TCCTCTTCAGATCCTTGAAAA	0.493																																					p.R139R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A417G	3						.						64.0	68.0	67.0					3																	121340693		2203	4300	6503	122823383	SO:0001819	synonymous_variant	51725	exon3			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.417A>G	3.37:g.121340693A>G		Somatic		Capture	SOLID	Phase_I	122823383	NM_016298	B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	CCDS33835.1																																																																																				0.493	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298	
GOLGB1	2804	hgsc.bcm.edu	37	3	121386913	121386913	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:121386913C>T	ENST00000340645.5	-	19	9524	c.9399G>A	c.(9397-9399)caG>caA	p.Q3133Q	GOLGB1_ENST00000393667.3_Silent_p.Q3143Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3133					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.Q3133Q(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)		CCTACCTTTGCTGCGGTTCCC	0.468																																					p.Q3133Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G9399A	3						.						108.0	100.0	102.0					3																	121386913		2203	4300	6503	122869603	SO:0001819	synonymous_variant	2804	exon19			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.9399G>A	3.37:g.121386913C>T		Somatic		Capture	SOLID	Phase_I	122869603	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	CCDS3004.1																																																																																				0.468	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
PARP9	83666	hgsc.bcm.edu	37	3	122247427	122247427	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:122247427T>C	ENST00000360356.2	-	11	2576	c.2349A>G	c.(2347-2349)ccA>ccG	p.P783P	PARP9_ENST00000477522.2_Silent_p.P748P|PARP9_ENST00000492382.1_Silent_p.P328P|PARP9_ENST00000471785.1_Silent_p.P748P	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	783	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.P783P(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CAGGACTCAGTGGTGGGGGAA	0.458																																					p.P748P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2244G	3						.						103.0	102.0	102.0					3																	122247427		2203	4300	6503	123730117	SO:0001819	synonymous_variant	83666	exon11			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2349A>G	3.37:g.122247427T>C		Somatic		Capture	SOLID	Phase_I	123730117	NM_001146103	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	ENST00000360356.2	37	CCDS3014.1																																																																																				0.458	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458	
PPARG	5468	hgsc.bcm.edu	37	3	12447398	12447398	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:12447398A>G	ENST00000287820.6	+	5	758	c.637A>G	c.(637-639)Atg>Gtg	p.M213V	PPARG_ENST00000397000.1_Missense_Mutation_p.M185V|PPARG_ENST00000397012.2_Missense_Mutation_p.M185V|PPARG_ENST00000309576.6_Missense_Mutation_p.M185V|PPARG_ENST00000539812.1_Missense_Mutation_p.M183V|PPARG_ENST00000397026.2_Missense_Mutation_p.M191V|PPARG_ENST00000397015.2_Missense_Mutation_p.M185V|PPARG_ENST00000397010.2_Missense_Mutation_p.M185V	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	213	Interaction with FAM120B. {ECO:0000250}.			MP -> IA (in Ref. 3; BAA18949). {ECO:0000305}.	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)	p.M213V(1)	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)	GTTTGGGCGGATGCCACAGGC	0.537			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																														p.M213V			Dom	yes		3	3p25	5468	"""peroxisome proliferative activated receptor, gamma"""	yes	E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A637G	3						.						67.0	66.0	66.0					3																	12447398		2203	4300	6503	12422398	SO:0001583	missense	5468	exon5			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.637A>G	3.37:g.12447398A>G	ENSP00000287820:p.Met213Val	Somatic		Capture	SOLID	Phase_I	12422398	NM_015869	A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743138	0.69418	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000397000;ENST00000539812;ENST00000287820	D;D;D;D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91;-3.91;-3.91;-3.91	5.81	5.81	0.92471	Nuclear hormone receptor, ligand-binding (1);	0.033012	0.85682	D	0.000000	D	0.97340	0.9130	M	0.87971	2.92	0.58432	D	0.999999	D;B;P	0.55172	0.97;0.044;0.5	P;B;B	0.59221	0.854;0.015;0.13	D	0.96857	0.9629	10	0.23891	T	0.37	.	16.1756	0.81847	1.0:0.0:0.0:0.0	.	213;199;185	P37231;Q4W4C7;E9PFX5	PPARG_HUMAN;.;.	V	185;185;185;185;191;185;183;213	ENSP00000380205:M185V;ENSP00000312472:M185V;ENSP00000380210:M185V;ENSP00000380207:M185V;ENSP00000380221:M191V;ENSP00000380196:M185V;ENSP00000438940:M183V;ENSP00000287820:M213V	ENSP00000287820:M213V	M	+	1	0	PPARG	12422398	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.692000	0.91284	2.213000	0.71641	0.528000	0.53228	ATG		0.537	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037	
PARP9	83666	hgsc.bcm.edu	37	3	122271345	122271345	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:122271345C>T	ENST00000360356.2	-	5	1359	c.1132G>A	c.(1132-1134)Gta>Ata	p.V378I	PARP9_ENST00000462315.1_Missense_Mutation_p.V343I|PARP9_ENST00000477522.2_Missense_Mutation_p.V343I|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.V343I	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	378	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.V378I(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GTGACCAGTACCAACTGGGAC	0.373																																					p.V343I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1027A	3						.						103.0	103.0	103.0					3																	122271345		2203	4300	6503	123754035	SO:0001583	missense	83666	exon5			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1132G>A	3.37:g.122271345C>T	ENSP00000353512:p.Val378Ile	Somatic		Capture	SOLID	Phase_I	123754035	NM_001146103	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	7.601	0.672831	0.14776	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.19	1.41	0.22369	Appr-1-p processing (3);	0.145716	0.31821	N	0.007010	T	0.22282	0.0537	L	0.51914	1.62	0.09310	N	1	B;B;B	0.23442	0.085;0.032;0.031	B;B;B	0.31686	0.134;0.046;0.035	T	0.19549	-1.0302	10	0.44086	T	0.13	.	6.4172	0.21723	0.0:0.6842:0.0:0.3158	.	343;378;343	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	I	378;343;343;301;343	ENSP00000353512:V378I;ENSP00000419506:V343I;ENSP00000419001:V343I;ENSP00000418894:V343I	ENSP00000353512:V378I	V	-	1	0	PARP9	123754035	0.094000	0.21725	0.002000	0.10522	0.000000	0.00434	0.575000	0.23729	0.196000	0.20367	-0.727000	0.03589	GTA		0.373	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458	
C3orf22	152065	hgsc.bcm.edu	37	3	126268811	126268811	+	Missense_Mutation	SNP	C	C	T	rs199990010		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:126268811C>T	ENST00000318225.2	-	4	704	c.326G>A	c.(325-327)cGc>cAc	p.R109H		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	109								p.R109H(1)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		TCTGGGGAAGCGGCGACTCAG	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17983	0.0		0.0	False		,,,				2504	0.0				p.R109H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G326A	3						.	C	HIS/ARG	0,4406		0,0,2203	138.0	117.0	124.0		326	2.7	0.0	3	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf22	NM_152533.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	109/142	126268811	1,13005	2203	4300	6503	127751501	SO:0001583	missense	152065	exon4				CCDS3040.1	3q21.3	2011-09-30			ENSG00000180697	ENSG00000180697			28534	protein-coding gene	gene with protein product						12477932	Standard	NM_152533		Approved	MGC34728	uc003ejb.3	Q8N5N4	OTTHUMG00000162731	ENST00000318225.2:c.326G>A	3.37:g.126268811C>T	ENSP00000316644:p.Arg109His	Somatic		Capture	SOLID	Phase_I	127751501	NM_152533	B3KUS9	Missense_Mutation	SNP	ENST00000318225.2	37	CCDS3040.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.94	3.260596	0.59431	0.0	1.16E-4	ENSG00000180697	ENST00000318225	.	.	.	2.71	2.71	0.32032	.	0.000000	0.34580	N	0.003843	T	0.47764	0.1463	L	0.32530	0.975	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.18053	-1.0349	9	0.87932	D	0	-17.3464	9.0973	0.36647	0.0:1.0:0.0:0.0	.	109	Q8N5N4	CC022_HUMAN	H	109	.	ENSP00000316644:R109H	R	-	2	0	C3orf22	127751501	0.944000	0.32072	0.020000	0.16555	0.286000	0.27126	0.926000	0.28804	1.837000	0.53436	0.313000	0.20887	CGC		0.627	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370231.2	NM_152533	
PLXND1	23129	hgsc.bcm.edu	37	3	129278570	129278570	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:129278570T>G	ENST00000324093.4	-	32	5368	c.5190A>C	c.(5188-5190)gaA>gaC	p.E1730D	PLXND1_ENST00000393239.1_Missense_Mutation_p.E1730D|PLXND1_ENST00000504689.1_5'Flank	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1730					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.E1730D(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGGGCTTGTCTTCACGGATAC	0.597																																					p.E1730D	Ovarian(97;366 1484 3738 22084 39045)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5190C	3						.						123.0	131.0	128.0					3																	129278570		2203	4300	6503	130761260	SO:0001583	missense	23129	exon32			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5190A>C	3.37:g.129278570T>G	ENSP00000317128:p.Glu1730Asp	Somatic		Capture	SOLID	Phase_I	130761260	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930323	0.34096	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.15952	2.38;2.38	4.95	-2.2	0.06994	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.408805	0.26414	N	0.024501	T	0.07683	0.0193	N	0.11064	0.09	0.35682	D	0.81414	B;B	0.09022	0.0;0.002	B;B	0.14578	0.001;0.011	T	0.19192	-1.0313	10	0.35671	T	0.21	.	10.1453	0.42760	0.1455:0.6465:0.0:0.208	.	325;1730	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	D	1730	ENSP00000317128:E1730D;ENSP00000376931:E1730D	ENSP00000317128:E1730D	E	-	3	2	PLXND1	130761260	0.001000	0.12720	0.989000	0.46669	0.547000	0.35210	-1.642000	0.02006	-0.305000	0.08831	0.460000	0.39030	GAA		0.597	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
TRH	7200	hgsc.bcm.edu	37	3	129695731	129695731	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:129695731G>A	ENST00000302649.3	+	3	928	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	TRH_ENST00000507066.1_Missense_Mutation_p.R130Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	134					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.R134Q(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CAGCACAAGCGGCAGCATCCT	0.632																																					p.R134Q	Esophageal Squamous(60;321 1330 17401 41911)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G401A	3						.						66.0	61.0	62.0					3																	129695731		2203	4300	6503	131178421	SO:0001583	missense	7200	exon3				CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.401G>A	3.37:g.129695731G>A	ENSP00000303452:p.Arg134Gln	Somatic		Capture	SOLID	Phase_I	131178421	NM_007117	B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	CCDS3066.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793803	0.70452	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.64618	-0.11;-0.11	4.41	4.41	0.53225	.	0.060571	0.64402	D	0.000004	T	0.79137	0.4395	M	0.87547	2.89	0.54753	D	0.999984	D	0.76494	0.999	D	0.65233	0.933	T	0.82772	-0.0292	10	0.62326	D	0.03	-18.1388	12.8541	0.57876	0.0:0.0:1.0:0.0	.	134	P20396	TRH_HUMAN	Q	134;130	ENSP00000303452:R134Q;ENSP00000426522:R130Q	ENSP00000303452:R134Q	R	+	2	0	TRH	131178421	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	4.363000	0.59473	2.173000	0.68751	0.491000	0.48974	CGG		0.632	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117	
PIK3R4	30849	hgsc.bcm.edu	37	3	130452696	130452696	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:130452696T>C	ENST00000356763.3	-	4	1703	c.1146A>G	c.(1144-1146)atA>atG	p.I382M		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	382					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|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)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I382M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GGCAGGATGTTATAACAGATA	0.408																																					p.I382M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1146G	3						.						147.0	144.0	145.0					3																	130452696		2203	4300	6503	131935386	SO:0001583	missense	30849	exon4			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1146A>G	3.37:g.130452696T>C	ENSP00000349205:p.Ile382Met	Somatic		Capture	SOLID	Phase_I	131935386	NM_014602	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760859	0.69763	.	.	ENSG00000196455	ENST00000356763	T	0.32753	1.44	6.17	2.2	0.27929	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.67397	2.05	0.58432	D	0.999999	D	0.63046	0.992	P	0.60068	0.868	T	0.35895	-0.9770	10	0.59425	D	0.04	-32.9243	9.1777	0.37123	0.115:0.0:0.241:0.6439	.	382	Q99570	PI3R4_HUMAN	M	382	ENSP00000349205:I382M	ENSP00000349205:I382M	I	-	3	3	PIK3R4	131935386	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.079000	0.41577	0.509000	0.28195	0.533000	0.62120	ATA		0.408	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
TF	7018	hgsc.bcm.edu	37	3	133494370	133494370	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:133494370C>T	ENST00000402696.3	+	15	2266	c.1781C>T	c.(1780-1782)gCg>gTg	p.A594V	TF_ENST00000264998.3_Missense_Mutation_p.A467V	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	594	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.A594V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GAGGAGTATGCGAACTGCCAC	0.498																																					p.A594V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1781T	3						.						185.0	181.0	182.0					3																	133494370		2203	4300	6503	134977060	SO:0001583	missense	7018	exon15				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1781C>T	3.37:g.133494370C>T	ENSP00000385834:p.Ala594Val	Somatic		Capture	SOLID	Phase_I	134977060	NM_001063	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568773	0.28003	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.33216	1.42;1.42	5.01	-10.0	0.00425	.	2.114670	0.01781	N	0.031798	T	0.24470	0.0593	L	0.42632	1.34	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.12863	-1.0531	10	0.45353	T	0.12	1.8443	11.2167	0.48830	0.2912:0.5766:0.0552:0.077	.	594	P02787	TRFE_HUMAN	V	594;467	ENSP00000385834:A594V;ENSP00000264998:A467V	ENSP00000264998:A467V	A	+	2	0	TF	134977060	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.957000	0.01521	-2.752000	0.00374	-1.606000	0.00808	GCG		0.498	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063	
IL20RB	53833	hgsc.bcm.edu	37	3	136714299	136714299	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:136714299C>T	ENST00000329582.4	+	6	975	c.726C>T	c.(724-726)ggC>ggT	p.G242G	IL20RB_ENST00000309741.5_Missense_Mutation_p.A145V	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	242					homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)		p.G242G(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCTTTGTTGGCTTCATGCTGA	0.512																																					p.G242G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C726T	3						.						270.0	256.0	261.0					3																	136714299		2203	4300	6503	138196989	SO:0001819	synonymous_variant	53833	exon6			BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	6004	protein-coding gene	gene with protein product		605621	"""fibronectin type III domain containing 6"""	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.726C>T	3.37:g.136714299C>T		Somatic		Capture	SOLID	Phase_I	138196989	NM_144717	B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Silent	SNP	ENST00000329582.4	37	CCDS3093.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407158	0.62399	.	.	ENSG00000174564	ENST00000309741	.	.	.	5.73	2.6	0.31112	.	.	.	.	.	T	0.37652	0.1011	.	.	.	0.24730	N	0.993093	.	.	.	.	.	.	T	0.36841	-0.9731	5	0.87932	D	0	-0.3422	3.7705	0.08640	0.1941:0.603:0.0:0.2029	.	.	.	.	V	145	.	ENSP00000311979:A145V	A	+	2	0	IL20RB	138196989	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.389000	0.20751	1.427000	0.47276	0.643000	0.83706	GCT		0.512	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717	
DZIP1L	199221	hgsc.bcm.edu	37	3	137787061	137787061	+	Silent	SNP	G	G	T	rs141369259		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:137787061G>T	ENST00000327532.2	-	13	2126	c.1764C>A	c.(1762-1764)tcC>tcA	p.S588S	DZIP1L_ENST00000488595.1_5'Flank	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	588					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.S588S(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GAGCGGGGGCGGACACCTGGG	0.701																																					p.S588S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1764A	3						.						45.0	52.0	50.0					3																	137787061		2203	4299	6502	139269751	SO:0001819	synonymous_variant	199221	exon13			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1764C>A	3.37:g.137787061G>T		Somatic		Capture	SOLID	Phase_I	139269751	NM_173543	C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	CCDS3096.1																																																																																				0.701	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543	
CLSTN2	64084	hgsc.bcm.edu	37	3	140277663	140277663	+	Missense_Mutation	SNP	G	G	A	rs137889465		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:140277663G>A	ENST00000458420.3	+	12	2195	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	669					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)	p.A669T(1)		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						GAGCACCTTCGCCAAAACCGA	0.532										HNSCC(16;0.037)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		18296	0.0		0.0	False		,,,				2504	0.0				p.A669T	GBM(45;858 913 3709 36904 37282)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2005A	3						.	G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	48.0	50.0	49.0		2005	2.5	0.0	3	dbSNP_134	49	0,8600		0,0,4300	no	missense	CLSTN2	NM_022131.2	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	669/956	140277663	2,13004	2203	4300	6503	141760353	SO:0001583	missense	64084	exon12			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.2005G>A	3.37:g.140277663G>A	ENSP00000402460:p.Ala669Thr	Somatic		Capture	SOLID	Phase_I	141760353	NM_022131	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.341445	0.01277	4.54E-4	0.0	ENSG00000158258	ENST00000458420	T	0.29397	1.57	5.41	2.5	0.30297	.	0.215482	0.46442	N	0.000281	T	0.08802	0.0218	N	0.01219	-0.95	0.23376	N	0.9978	B	0.09022	0.002	B	0.04013	0.001	T	0.33163	-0.9879	9	.	.	.	-0.0386	6.6275	0.22839	0.3845:0.0:0.6155:0.0	.	669	Q9H4D0	CSTN2_HUMAN	T	669	ENSP00000402460:A669T	.	A	+	1	0	CLSTN2	141760353	0.921000	0.31238	0.031000	0.17742	0.075000	0.17131	2.120000	0.41968	0.587000	0.29643	0.650000	0.86243	GCC		0.532	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
TRIM42	287015	hgsc.bcm.edu	37	3	140401980	140401980	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:140401980G>A	ENST00000286349.3	+	2	1209	c.1018G>A	c.(1018-1020)Gcc>Acc	p.A340T		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	340						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.A340T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACTCTTCAGCGCCATCGCCAA	0.532																																					p.A340T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1018A	3						.						120.0	113.0	115.0					3																	140401980		2203	4300	6503	141884670	SO:0001583	missense	287015	exon2			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1018G>A	3.37:g.140401980G>A	ENSP00000286349:p.Ala340Thr	Somatic		Capture	SOLID	Phase_I	141884670	NM_152616	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732173	0.48939	.	.	ENSG00000155890	ENST00000286349	T	0.56776	0.44	5.46	5.46	0.80206	.	0.098290	0.45361	D	0.000378	T	0.25531	0.0621	N	0.08118	0	0.37944	D	0.932416	P	0.49253	0.921	B	0.31869	0.137	T	0.28964	-1.0027	10	0.12430	T	0.62	-37.5204	14.805	0.69945	0.0:0.0:1.0:0.0	.	340	Q8IWZ5	TRI42_HUMAN	T	340	ENSP00000286349:A340T	ENSP00000286349:A340T	A	+	1	0	TRIM42	141884670	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.901000	0.48695	2.567000	0.86603	0.561000	0.74099	GCC		0.532	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616	
XRN1	54464	hgsc.bcm.edu	37	3	142144355	142144355	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:142144355A>G	ENST00000264951.4	-	4	549	c.432T>C	c.(430-432)caT>caC	p.H144H	XRN1_ENST00000463916.1_Silent_p.H144H|XRN1_ENST00000392981.2_Silent_p.H144H|XRN1_ENST00000544157.1_Intron	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	144					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.H144H(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TCAGATGTTCATGTAACCTGG	0.308																																					p.H144H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T432C	3						.						55.0	56.0	55.0					3																	142144355		2203	4299	6502	143627045	SO:0001819	synonymous_variant	54464	exon4			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.432T>C	3.37:g.142144355A>G		Somatic		Capture	SOLID	Phase_I	143627045	NM_019001	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	CCDS3123.1																																																																																				0.308	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	
PAQR9	344838	hgsc.bcm.edu	37	3	142681113	142681113	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:142681113G>C	ENST00000340634.3	-	1	1065	c.1066C>G	c.(1066-1068)Ctg>Gtg	p.L356V	RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	356						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L356V(1)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CAGACCACCAGCAGCAGCATG	0.587																																					p.L356V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1066G	3						.						89.0	102.0	97.0					3																	142681113		2203	4300	6503	144163803	SO:0001583	missense	344838	exon1			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.1066C>G	3.37:g.142681113G>C	ENSP00000341564:p.Leu356Val	Somatic		Capture	SOLID	Phase_I	144163803	NM_198504	Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	CCDS3128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.70|14.70	2.612348|2.612348	0.46631|0.46631	.|.	.|.	ENSG00000188582|ENSG00000188582	ENST00000492509|ENST00000340634	.|T	.|0.24908	.|1.83	5.62|5.62	2.9|2.9	0.33743|0.33743	.|.	.|0.101065	.|0.42682	.|D	.|0.000679	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.24115|0.24115	0.695|0.695	0.30083|0.30083	N|N	0.809047|0.809047	.|B	.|0.19935	.|0.04	.|B	.|0.21546	.|0.035	T|T	0.23440|0.23440	-1.0188|-1.0188	5|10	.|0.17369	.|T	.|0.5	-19.472|-19.472	8.5167|8.5167	0.33250|0.33250	0.3566:0.0:0.6434:0.0|0.3566:0.0:0.6434:0.0	.|.	.|356	.|Q6ZVX9	.|PAQR9_HUMAN	G|V	96|356	.|ENSP00000341564:L356V	.|ENSP00000341564:L356V	A|L	-|-	2|1	0|2	PAQR9|PAQR9	144163803|144163803	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.396000|1.396000	0.34531|0.34531	0.339000|0.339000	0.23719|0.23719	0.650000|0.650000	0.86243|0.86243	GCT|CTG		0.587	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504	
SLC6A6	6533	hgsc.bcm.edu	37	3	14485310	14485310	+	Silent	SNP	C	C	T	rs41284011	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:14485310C>T	ENST00000454876.2	+	3	497	c.168C>T	c.(166-168)ggC>ggT	p.G56G	SLC6A6_ENST00000360861.3_Silent_p.G56G|SLC6A6_ENST00000416216.2_Silent_p.G56G|SLC6A6_ENST00000484191.1_Intron			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	56					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.G56G(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						CTGTGGCTGGCGGCTTCGTGG	0.627																																					p.G56G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C168T	3						.	C	,,	5,4401	9.9+/-24.2	0,5,2198	113.0	103.0	106.0		168,168,168	-5.1	0.9	3	dbSNP_127	106	20,8580	15.3+/-51.7	0,20,4280	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC6A6	NM_001134367.1,NM_001134368.1,NM_003043.3	,,	0,25,6478	TT,TC,CC		0.2326,0.1135,0.1922	,,	56/621,56/201,56/621	14485310	25,12981	2203	4300	6503	14460314	SO:0001819	synonymous_variant	6533	exon3				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.168C>T	3.37:g.14485310C>T		Somatic		Capture	SOLID	Phase_I	14460314	NM_003043	B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	ENST00000454876.2	37	CCDS33705.1																																																																																				0.627	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043	
SLC6A6	6533	hgsc.bcm.edu	37	3	14518802	14518802	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:14518802C>T	ENST00000454876.2	+	11	1628	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A	SLC6A6_ENST00000360861.3_Silent_p.A433A			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	433					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.A433A(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						TCTTCATCGCCTTCGTGTGTA	0.532																																					p.A433A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1299T	3						.						167.0	137.0	147.0					3																	14518802		2203	4300	6503	14493806	SO:0001819	synonymous_variant	6533	exon11				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.1299C>T	3.37:g.14518802C>T		Somatic		Capture	SOLID	Phase_I	14493806	NM_003043	B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	ENST00000454876.2	37	CCDS33705.1																																																																																				0.532	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043	
SLC9A9	285195	hgsc.bcm.edu	37	3	142985659	142985659	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:142985659T>A	ENST00000316549.6	-	16	2031	c.1823A>T	c.(1822-1824)gAc>gTc	p.D608V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	608					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.D608V(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGCTTTCTGGTCCAGACCTAG	0.512																																					p.D608V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1823T	3						.						171.0	157.0	162.0					3																	142985659		2203	4300	6503	144468349	SO:0001583	missense	285195	exon16			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1823A>T	3.37:g.142985659T>A	ENSP00000320246:p.Asp608Val	Somatic		Capture	SOLID	Phase_I	144468349	NM_173653	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613069	0.28712	.	.	ENSG00000181804	ENST00000316549	T	0.57107	0.42	5.57	3.16	0.36331	.	0.893166	0.09878	N	0.744019	T	0.43344	0.1243	L	0.44542	1.39	0.35461	D	0.79648	B	0.12013	0.005	B	0.12837	0.008	T	0.35301	-0.9794	10	0.26408	T	0.33	.	8.2049	0.31449	0.0:0.0663:0.2507:0.683	.	608	Q8IVB4	SL9A9_HUMAN	V	608	ENSP00000320246:D608V	ENSP00000320246:D608V	D	-	2	0	SLC9A9	144468349	0.737000	0.28175	0.986000	0.45419	0.967000	0.64934	1.060000	0.30530	0.388000	0.25054	0.528000	0.53228	GAC		0.512	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	
MED12L	116931	hgsc.bcm.edu	37	3	151067986	151067986	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:151067986A>C	ENST00000474524.1	+	15	2323	c.2285A>C	c.(2284-2286)gAg>gCg	p.E762A	MED12L_ENST00000273432.4_Missense_Mutation_p.E622A|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	762						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.E762A(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)			AGCACCACAGAGACAGGGGGT	0.428																																					p.E762A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2285C	3						.						86.0	89.0	88.0					3																	151067986		2203	4300	6503	152550676	SO:0001583	missense	116931	exon15			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.2285A>C	3.37:g.151067986A>C	ENSP00000417235:p.Glu762Ala	Somatic		Capture	SOLID	Phase_I	152550676	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.800240	0.90538	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.62639	0.23;0.01	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	L	0.51422	1.61	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.70935	0.942;0.971	T	0.76876	-0.2797	10	0.87932	D	0	-31.4321	15.8353	0.78793	1.0:0.0:0.0:0.0	.	622;762	F8WAE6;Q86YW9	.;MD12L_HUMAN	A	762;622	ENSP00000417235:E762A;ENSP00000273432:E622A	ENSP00000273432:E622A	E	+	2	0	MED12L	152550676	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	8.474000	0.90413	2.221000	0.72209	0.455000	0.32223	GAG		0.428	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
DHX36	170506	hgsc.bcm.edu	37	3	154006723	154006723	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:154006723G>A	ENST00000496811.1	-	17	2043	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L	DHX36_ENST00000329463.5_Silent_p.L641L|DHX36_ENST00000544526.1_Silent_p.L641L|DHX36_ENST00000308361.6_Silent_p.L655L	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	655					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.L655L(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)			AATCTACTCAGAAAATAAGCA	0.318																																					p.L641L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1921T	3						.						57.0	56.0	57.0					3																	154006723		2203	4300	6503	155489417	SO:0001819	synonymous_variant	170506	exon17			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.1963C>T	3.37:g.154006723G>A		Somatic		Capture	SOLID	Phase_I	155489417	NM_001114397	B2RB00|Q70JU3|Q8IYE5|Q9P240	Silent	SNP	ENST00000496811.1	37	CCDS3171.1																																																																																				0.318	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865	
MME	4311	hgsc.bcm.edu	37	3	154832810	154832810	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:154832810C>T	ENST00000460393.1	+	4	344	c.224C>T	c.(223-225)gCc>gTc	p.A75V	MME_ENST00000492661.1_Missense_Mutation_p.A75V|MME_ENST00000493237.1_Missense_Mutation_p.A75V|MME_ENST00000477669.1_3'UTR|MME_ENST00000360490.2_Missense_Mutation_p.A75V|MME_ENST00000462745.1_Missense_Mutation_p.A75V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	75					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.A75V(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)	AACATGGATGCCACCACTGAG	0.443																																					p.A75V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C224T	3						.						117.0	113.0	114.0					3																	154832810		2203	4300	6503	156315504	SO:0001583	missense	4311	exon4				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.224C>T	3.37:g.154832810C>T	ENSP00000418525:p.Ala75Val	Somatic		Capture	SOLID	Phase_I	156315504	NM_000902	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945263	0.34283	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000473730;ENST00000462837	D;D;D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.46	2.23	0.28157	.	0.468928	0.23797	N	0.044464	T	0.65439	0.2691	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.52909	-0.8512	10	0.29301	T	0.29	-0.2782	12.307	0.54908	0.247:0.6449:0.1081:0.0	.	75	P08473	NEP_HUMAN	V	75	ENSP00000420389:A75V;ENSP00000418525:A75V;ENSP00000420101:A75V;ENSP00000419653:A75V;ENSP00000417079:A75V;ENSP00000353679:A75V;ENSP00000418791:A75V;ENSP00000420542:A75V;ENSP00000417595:A75V	ENSP00000353679:A75V	A	+	2	0	MME	156315504	0.005000	0.15991	0.011000	0.14972	0.988000	0.76386	2.205000	0.42770	0.637000	0.30526	0.561000	0.74099	GCC		0.443	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	
IFT80	57560	hgsc.bcm.edu	37	3	159998488	159998488	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:159998488A>G	ENST00000326448.7	-	15	2063	c.1631T>C	c.(1630-1632)aTt>aCt	p.I544T	IFT80_ENST00000483465.1_Missense_Mutation_p.I407T|IFT80_ENST00000496589.1_Missense_Mutation_p.I407T|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.I715T	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	544					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.I544T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTAGGCAAAATGTCTCTGTC	0.338																																					p.I407T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1220C	3						.						127.0	115.0	119.0					3																	159998488		2203	4300	6503	161481182	SO:0001583	missense	57560	exon14			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1631T>C	3.37:g.159998488A>G	ENSP00000312778:p.Ile544Thr	Somatic		Capture	SOLID	Phase_I	161481182	NM_001190242	B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486279	0.84854	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;T;T	0.72615	-0.01;-0.67;-0.67	5.6	5.6	0.85130	.	0.135912	0.32386	U	0.006177	T	0.70928	0.3280	M	0.69823	2.125	0.49483	D	0.999794	B	0.32245	0.361	B	0.32864	0.154	T	0.71080	-0.4696	10	0.42905	T	0.14	.	15.7843	0.78291	1.0:0.0:0.0:0.0	.	544	Q9P2H3	IFT80_HUMAN	T	544;407;407	ENSP00000312778:I544T;ENSP00000418196:I407T;ENSP00000420646:I407T	ENSP00000312778:I544T	I	-	2	0	IFT80	161481182	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.584000	0.90798	2.133000	0.65898	0.383000	0.25322	ATT		0.338	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800	
PLCL2	23228	hgsc.bcm.edu	37	3	17131352	17131352	+	Missense_Mutation	SNP	G	G	A	rs141417927		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:17131352G>A	ENST00000418129.2	+	6	3419	c.2954G>A	c.(2953-2955)cGc>cAc	p.R985H	PLCL2_ENST00000432376.1_Missense_Mutation_p.R985H	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1111					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.R985H(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAGAAGCCACGCCGGAGCTTG	0.413																																					p.A1105T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3313A	3						.	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	76.0	77.0		3336,2954	5.9	1.0	3	dbSNP_134	77	0,8600		0,0,4300	no	missense,missense	PLCL2	NM_001144382.1,NM_015184.5	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1111/1128,985/1002	17131352	1,13005	2203	4300	6503	17106356	SO:0001583	missense	23228	exon7			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2954G>A	3.37:g.17131352G>A	ENSP00000409637:p.Arg985His	Somatic		Capture	SOLID	Phase_I	17106356	NM_001144382	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	32	5.191063	0.94923	2.27E-4	0.0	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000432376	T;T	0.18810	2.19;2.19	5.91	5.91	0.95273	.	0.052390	0.85682	D	0.000000	T	0.46171	0.1379	.	.	.	0.80722	D	1	D	0.69078	0.997	P	0.58454	0.839	T	0.39542	-0.9609	9	0.87932	D	0	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	1111	Q9UPR0	PLCL2_HUMAN	H	985;1112;985	ENSP00000409637:R985H;ENSP00000412836:R985H	ENSP00000285094:R1112H	R	+	2	0	PLCL2	17106356	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.476000	0.90421	2.799000	0.96334	0.650000	0.86243	CGC		0.413	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3		
SMC4	10051	hgsc.bcm.edu	37	3	160141437	160141437	+	Splice_Site	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:160141437A>G	ENST00000357388.3	+	14	2695	c.2244A>G	c.(2242-2244)tcA>tcG	p.S748S	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Splice_Site_p.S748S|SMC4_ENST00000469762.1_Splice_Site_p.S723S|SMC4_ENST00000344722.5_Splice_Site_p.S748S|SMC4_ENST00000360111.2_Splice_Site_p.S748S	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	748	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.S748S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAGAACAGTCAGGTAATAGTG	0.393																																					p.S748S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2244G	3						.						172.0	183.0	180.0					3																	160141437		2203	4300	6503	161624131	SO:0001630	splice_region_variant	10051	exon14			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2245+1A>G	3.37:g.160141437A>G		Somatic		Capture	SOLID	Phase_I	161624131	NM_001002800	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Silent	SNP	ENST00000357388.3	37	CCDS3189.1																																																																																				0.393	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		Silent
HTR3E	285242	hgsc.bcm.edu	37	3	183822028	183822028	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:183822028T>C	ENST00000415389.2	+	4	804	c.338T>C	c.(337-339)aTg>aCg	p.M113T	HTR3E_ENST00000335304.2_Missense_Mutation_p.M128T|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Missense_Mutation_p.M98T|HTR3E_ENST00000436361.2_Missense_Mutation_p.M113T|HTR3E_ENST00000440596.2_Missense_Mutation_p.M113T	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	113					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.M128T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	ATCACGAAGATGAGTATGGCA	0.517																																					p.M128T	Melanoma(7;227 727 6634 44770)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T383C	3						.						62.0	53.0	56.0					3																	183822028		2203	4300	6503	185304722	SO:0001583	missense	285242	exon3			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.338T>C	3.37:g.183822028T>C	ENSP00000401444:p.Met113Thr	Somatic		Capture	SOLID	Phase_I	185304722	NM_182589	A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	t	7.866	0.727180	0.15439	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000431041;ENST00000436361;ENST00000440596	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	3.46	3.46	0.39613	Neurotransmitter-gated ion-channel ligand-binding (3);	0.087819	0.43260	U	0.000585	T	0.59649	0.2209	N	0.08118	0	0.21740	N	0.99956	B;B;B;B;B	0.21753	0.002;0.043;0.035;0.06;0.035	B;B;B;B;B	0.27500	0.003;0.08;0.048;0.048;0.03	T	0.58340	-0.7653	10	0.87932	D	0	.	10.2155	0.43166	0.0:0.0:0.0:1.0	.	113;113;113;128;98	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	T	113;98;128;42;113;113	ENSP00000401444:M113T;ENSP00000401900:M98T;ENSP00000335511:M128T;ENSP00000391254:M42T;ENSP00000395833:M113T;ENSP00000406050:M113T	ENSP00000335511:M128T	M	+	2	0	HTR3E	185304722	0.999000	0.42202	0.626000	0.29213	0.297000	0.27493	6.209000	0.72171	1.565000	0.49641	0.528000	0.53228	ATG		0.517	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589	
EPHB3	2049	hgsc.bcm.edu	37	3	184293636	184293636	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:184293636A>G	ENST00000330394.2	+	4	1327	c.875A>G	c.(874-876)tAc>tGc	p.Y292C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	292	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.Y292C(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCTGGGAGCTACAAGGCGAAG	0.627																																					p.Y292C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A875G	3						.						73.0	66.0	68.0					3																	184293636		2203	4300	6503	185776330	SO:0001583	missense	2049	exon4			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.875A>G	3.37:g.184293636A>G	ENSP00000332118:p.Tyr292Cys	Somatic		Capture	SOLID	Phase_I	185776330	NM_004443	Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.838834	0.71373	.	.	ENSG00000182580	ENST00000330394	T	0.35789	1.29	5.36	4.06	0.47325	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.119653	0.56097	D	0.000029	T	0.54791	0.1880	M	0.85041	2.73	0.48395	D	0.999642	D	0.63046	0.992	P	0.56823	0.807	T	0.62148	-0.6915	10	0.87932	D	0	.	9.6412	0.39839	0.7858:0.0:0.0:0.2141	.	292	P54753	EPHB3_HUMAN	C	292	ENSP00000332118:Y292C	ENSP00000332118:Y292C	Y	+	2	0	EPHB3	185776330	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.445000	0.60007	2.156000	0.67533	0.443000	0.29094	TAC		0.627	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443	
TRA2B	6434	hgsc.bcm.edu	37	3	185639878	185639878	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:185639878G>A	ENST00000453386.2	-	5	834	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	TRA2B_ENST00000382191.4_Missense_Mutation_p.R87C	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	187	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R187C(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CTGATCCTACGCCCATCAAGC	0.378																																					p.R187C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C559T	3						.						142.0	134.0	137.0					3																	185639878		2203	4300	6503	187122572	SO:0001583	missense	6434	exon5			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.559C>T	3.37:g.185639878G>A	ENSP00000416959:p.Arg187Cys	Somatic		Capture	SOLID	Phase_I	187122572	NM_004593	B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365073	0.82463	.	.	ENSG00000136527	ENST00000453386;ENST00000382191	D;D	0.92699	-3.09;-3.09	6.03	5.15	0.70609	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.94847	0.8335	M	0.92412	3.305	0.80722	D	1	P;P	0.47484	0.896;0.896	P;P	0.48571	0.582;0.582	D	0.95190	0.8307	10	0.87932	D	0	-4.8752	11.7683	0.51943	0.0:0.1335:0.7279:0.1385	.	187;187	B2RDQ3;P62995	.;TRA2B_HUMAN	C	187;87	ENSP00000416959:R187C;ENSP00000371626:R87C	ENSP00000371626:R87C	R	-	1	0	TRA2B	187122572	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	7.573000	0.82421	1.539000	0.49286	-0.176000	0.13171	CGT		0.378	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593	
DGKG	1608	hgsc.bcm.edu	37	3	186006513	186006513	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:186006513T>G	ENST00000265022.3	-	6	1069	c.530A>C	c.(529-531)cAg>cCg	p.Q177P	DGKG_ENST00000544847.1_Missense_Mutation_p.Q177P|DGKG_ENST00000382164.4_Missense_Mutation_p.Q177P|DGKG_ENST00000344484.4_Missense_Mutation_p.Q177P	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	177	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.Q177P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CAGCTTATCCTGAGGCCTCCC	0.537																																					p.Q177P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A530C	3						.						78.0	83.0	82.0					3																	186006513		2203	4300	6503	187489207	SO:0001583	missense	1608	exon6			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.530A>C	3.37:g.186006513T>G	ENSP00000265022:p.Gln177Pro	Somatic		Capture	SOLID	Phase_I	187489207	NM_001080744	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.062672	0.55432	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	6.02	6.02	0.97574	.	0.062958	0.64402	D	0.000008	T	0.46386	0.1390	L	0.38175	1.15	0.54753	D	0.999981	P;P;P;P	0.49961	0.788;0.788;0.93;0.885	B;B;P;B	0.50754	0.429;0.429;0.649;0.446	T	0.46261	-0.9204	10	0.87932	D	0	.	15.5272	0.75919	0.0:0.0:0.0:1.0	.	177;177;177;177	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	P	177;177;177;177;180	ENSP00000265022:Q177P;ENSP00000339777:Q177P;ENSP00000371599:Q177P;ENSP00000440507:Q177P	ENSP00000265022:Q177P	Q	-	2	0	DGKG	187489207	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.307000	0.78920	2.311000	0.77944	0.533000	0.62120	CAG		0.537	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		
LRRN1	57633	hgsc.bcm.edu	37	3	3886609	3886609	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:3886609T>C	ENST00000319331.3	+	2	1045	c.284T>C	c.(283-285)tTc>tCc	p.F95S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	95						integral component of membrane (GO:0016021)		p.F95S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAGCAGCTTTTCAACTTGACT	0.453																																					p.F95S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T284C	3						.						69.0	66.0	67.0					3																	3886609		2203	4300	6503	3861609	SO:0001583	missense	57633	exon2			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.284T>C	3.37:g.3886609T>C	ENSP00000314901:p.Phe95Ser	Somatic		Capture	SOLID	Phase_I	3861609	NM_020873	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250605	0.39797	.	.	ENSG00000175928	ENST00000319331	T	0.22743	1.94	5.76	4.58	0.56647	.	0.160575	0.56097	D	0.000028	T	0.08846	0.0219	N	0.02334	-0.595	0.43550	D	0.995859	B	0.12013	0.005	B	0.09377	0.004	T	0.16778	-1.0391	10	0.19590	T	0.45	.	13.051	0.58954	0.0:0.0:0.1344:0.8656	.	95	Q6UXK5	LRRN1_HUMAN	S	95	ENSP00000314901:F95S	ENSP00000314901:F95S	F	+	2	0	LRRN1	3861609	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.013000	0.64023	0.977000	0.38444	0.533000	0.62120	TTC		0.453	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873	
VILL	50853	hgsc.bcm.edu	37	3	38045804	38045804	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:38045804G>A	ENST00000283713.6	+	16	2130	c.1864G>A	c.(1864-1866)Ggc>Agc	p.G622S	VILL_ENST00000383759.2_Missense_Mutation_p.G622S|VILL_ENST00000465644.1_Missense_Mutation_p.G340S			O15195	VILL_HUMAN	villin-like	622					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.G622S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CAGCCACATGGGCTGCCTGGT	0.612											OREG0015475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G622S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1864A	3						.						71.0	63.0	66.0					3																	38045804		2203	4300	6503	38020808	SO:0001583	missense	50853	exon15				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1864G>A	3.37:g.38045804G>A	ENSP00000283713:p.Gly622Ser	Somatic	875	Capture	SOLID	Phase_I	38020808	NM_015873	A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643317	0.87859	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.30448	1.53;1.53;1.53	3.65	3.65	0.41850	.	0.053671	0.85682	D	0.000000	T	0.62648	0.2445	M	0.93854	3.465	0.49915	D	0.999832	D	0.62365	0.991	P	0.62813	0.907	T	0.76211	-0.3042	10	0.87932	D	0	-22.0472	15.4988	0.75680	0.0:0.0:1.0:0.0	.	622	O15195	VILL_HUMAN	S	622;622;608;340	ENSP00000283713:G622S;ENSP00000373266:G622S;ENSP00000422096:G340S	ENSP00000283713:G622S	G	+	1	0	VILL	38020808	1.000000	0.71417	0.312000	0.25196	0.918000	0.54935	9.550000	0.98110	2.064000	0.61679	0.400000	0.26472	GGC		0.612	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873	
MOBP	4336	hgsc.bcm.edu	37	3	39543707	39543707	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:39543707C>T	ENST00000420739.1	+	3	371	c.147C>T	c.(145-147)agC>agT	p.S49S	MOBP_ENST00000354668.4_Silent_p.S49S|MOBP_ENST00000447324.1_Silent_p.S49S|MOBP_ENST00000428261.1_Silent_p.S49S|MOBP_ENST00000441980.2_Silent_p.S49S|MOBP_ENST00000311042.6_Silent_p.S49S|MOBP_ENST00000396228.1_Silent_p.S49S|MOBP_ENST00000479860.1_3'UTR|MOBP_ENST00000415443.1_Silent_p.S49S|MOBP_ENST00000383754.3_Silent_p.S49S			Q13875	MOBP_HUMAN	myelin-associated oligodendrocyte basic protein	49					intracellular protein transport (GO:0006886)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)		p.S49S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		TCTGTAAGAGCGGCTGCTTCT	0.567																																					p.S49S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C147T	3						.						65.0	67.0	66.0					3																	39543707		2203	4300	6503	39518711	SO:0001819	synonymous_variant	4336	exon3			D28113	CCDS2687.1, CCDS63598.1, CCDS2688.1	3p21.33	2004-03-02			ENSG00000168314	ENSG00000168314			7189	protein-coding gene	gene with protein product		600948				7989345	Standard	NM_001278322		Approved		uc031ryw.1	Q13875	OTTHUMG00000131347	ENST00000420739.1:c.147C>T	3.37:g.39543707C>T		Somatic		Capture	SOLID	Phase_I	39518711	NM_182935	A8K2C2|G5E945|Q13874|Q6DHZ6|Q8TBJ1	Silent	SNP	ENST00000420739.1	37																																																																																					0.567	MOBP-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343711.1	NM_006501, NM_182934, NM_182935	
KLHL18	23276	hgsc.bcm.edu	37	3	47371614	47371614	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:47371614A>C	ENST00000232766.5	+	4	595	c.575A>C	c.(574-576)gAg>gCg	p.E192A	KLHL18_ENST00000455924.2_Missense_Mutation_p.E80A	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	192	BACK.							p.E192A(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCTCGGGATGAGCTGAATGTC	0.498																																					p.E192A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A575C	3						.						105.0	92.0	96.0					3																	47371614		2203	4300	6503	47346618	SO:0001583	missense	23276	exon4			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.575A>C	3.37:g.47371614A>C	ENSP00000232766:p.Glu192Ala	Somatic		Capture	SOLID	Phase_I	47346618	NM_025010	A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.709962	0.89018	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.70282	-0.47;-0.47	4.94	4.94	0.65067	BTB/Kelch-associated (2);	0.058064	0.64402	D	0.000002	T	0.78585	0.4306	M	0.64080	1.96	0.80722	D	1	D;P;P	0.58268	0.982;0.871;0.925	P;P;P	0.58013	0.831;0.622;0.453	T	0.81187	-0.1047	10	0.72032	D	0.01	.	13.5678	0.61828	1.0:0.0:0.0:0.0	.	43;192;127	Q647K1;O94889;O94889-2	.;KLH18_HUMAN;.	A	192;80	ENSP00000232766:E192A;ENSP00000405585:E80A	ENSP00000232766:E192A	E	+	2	0	KLHL18	47346618	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.754000	0.91642	2.085000	0.62840	0.383000	0.25322	GAG		0.498	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010	
SCAP	22937	hgsc.bcm.edu	37	3	47458673	47458673	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:47458673G>A	ENST00000265565.5	-	18	3407	c.2995C>T	c.(2995-2997)Ctg>Ttg	p.L999L	SCAP_ENST00000545718.1_Silent_p.L606L|SCAP_ENST00000441517.2_Silent_p.L743L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	999	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)	p.L999L(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTGCAGCACAGCACCCCTTCA	0.637																																					p.L999L	Pancreas(149;978 1908 29304 37806 46700)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2995T	3						.						93.0	74.0	80.0					3																	47458673		2203	4300	6503	47433677	SO:0001819	synonymous_variant	22937	exon18			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2995C>T	3.37:g.47458673G>A		Somatic		Capture	SOLID	Phase_I	47433677	NM_012235	Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	CCDS2755.2																																																																																				0.637	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	
DAG1	1605	hgsc.bcm.edu	37	3	49569616	49569616	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:49569616A>G	ENST00000539901.1	+	3	2230	c.1672A>G	c.(1672-1674)Agc>Ggc	p.S558G	DAG1_ENST00000538711.1_Missense_Mutation_p.S558G|DAG1_ENST00000515359.2_Missense_Mutation_p.S558G|DAG1_ENST00000545947.1_Missense_Mutation_p.S558G|DAG1_ENST00000308775.2_Missense_Mutation_p.S558G|DAG1_ENST00000541308.1_Missense_Mutation_p.S558G	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	558					basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)	p.S558G(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAACAGCAACAGCCAGCTCAT	0.577																																					p.S558G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1672G	3						.						73.0	65.0	68.0					3																	49569616		2203	4300	6503	49544620	SO:0001583	missense	1605	exon3			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1672A>G	3.37:g.49569616A>G	ENSP00000439334:p.Ser558Gly	Somatic		Capture	SOLID	Phase_I	49544620	NM_004393	A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004525	0.74932	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	D;D;D;D;D;D	0.98717	-5.09;-5.09;-5.09;-5.09;-5.09;-5.09	5.97	5.97	0.96955	Dystroglycan-type cadherin-like (1);Cadherin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	M	0.71581	2.175	0.80722	D	1	D	0.55385	0.971	P	0.52909	0.713	D	0.98572	1.0646	9	.	.	.	-30.4123	15.433	0.75116	1.0:0.0:0.0:0.0	.	558	Q14118	DAG1_HUMAN	G	558	ENSP00000440705:S558G;ENSP00000312435:S558G;ENSP00000442600:S558G;ENSP00000440590:S558G;ENSP00000439334:S558G;ENSP00000438421:S558G	.	S	+	1	0	DAG1	49544620	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.288000	0.76882	0.533000	0.62120	AGC		0.577	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1		
UBA7	7318	hgsc.bcm.edu	37	3	49850553	49850553	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:49850553T>C	ENST00000333486.3	-	4	567	c.409A>G	c.(409-411)Acc>Gcc	p.T137A	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	137	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.T137A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGACACAAGGTGCCCACCTTC	0.592																																					p.T137A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A409G	3						.						74.0	68.0	70.0					3																	49850553		2203	4300	6503	49825557	SO:0001583	missense	7318	exon4			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.409A>G	3.37:g.49850553T>C	ENSP00000333266:p.Thr137Ala	Somatic		Capture	SOLID	Phase_I	49825557	NM_003335	Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	T	7.299	0.612676	0.14066	.	.	ENSG00000182179	ENST00000333486	T	0.39592	1.07	4.95	-5.84	0.02318	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	1.463720	0.03752	N	0.256740	T	0.17408	0.0418	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.20505	-1.0273	10	0.36615	T	0.2	0.7725	7.9685	0.30113	0.0:0.4229:0.3472:0.2299	.	137	P41226	UBA7_HUMAN	A	137	ENSP00000333266:T137A	ENSP00000333266:T137A	T	-	1	0	UBA7	49825557	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.084000	0.14891	-1.322000	0.02278	0.379000	0.24179	ACC		0.592	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335	
ACY1	95	hgsc.bcm.edu	37	3	52019881	52019881	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:52019881A>G	ENST00000404366.2	+	5	424	c.278A>G	c.(277-279)cAc>cGc	p.H93R	ACY1_ENST00000494103.1_Missense_Mutation_p.H93R|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.H194R|ACY1_ENST00000476854.1_Missense_Mutation_p.H93R|ACY1_ENST00000476351.1_Missense_Mutation_p.H58R|ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000458031.2_Missense_Mutation_p.H183R|ABHD14B_ENST00000483233.1_5'Flank	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	93					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.H93R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	CATTGGAGTCACGACCCCTTT	0.567																																					p.H93R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A278G	3						.						82.0	63.0	70.0					3																	52019881		2203	4300	6503	51994921	SO:0001583	missense	95	exon5			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.278A>G	3.37:g.52019881A>G	ENSP00000384296:p.His93Arg	Somatic		Capture	SOLID	Phase_I	51994921	NM_001198897	C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	37	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.335346	0.60853	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366;ENST00000469863	D;D;D;D;T;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;3.14;-1.63;-1.63	4.97	4.97	0.65823	.	0.118471	0.64402	D	0.000020	D	0.89853	0.6835	M	0.82193	2.58	0.52099	D	0.999948	B;D;B	0.56035	0.271;0.974;0.156	B;P;B	0.58577	0.129;0.841;0.089	D	0.91433	0.5167	10	0.72032	D	0.01	-1.7255	14.3873	0.66953	1.0:0.0:0.0:0.0	.	93;183;93	B4DPC3;B4DNW0;Q03154	.;.;ACY1_HUMAN	R	183;194;93;93;58;93;93;102	ENSP00000390557:H183R;ENSP00000420487:H194R;ENSP00000419262:H93R;ENSP00000417056:H58R;ENSP00000417618:H93R;ENSP00000384296:H93R;ENSP00000419830:H102R	ENSP00000384296:H93R	H	+	2	0	ACY1;RP11-155D18.11	51994921	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	8.459000	0.90367	1.872000	0.54250	0.456000	0.33151	CAC		0.567	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666	
NEK4	6787	hgsc.bcm.edu	37	3	52773495	52773495	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:52773495C>A	ENST00000233027.5	-	14	2451	c.2249G>T	c.(2248-2250)gGg>gTg	p.G750V	NEK4_ENST00000383721.4_Missense_Mutation_p.G704V|NEK4_ENST00000535191.1_Missense_Mutation_p.G661V	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	750					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.G750V(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)		TGCAACCTTCCCATGAAGTAT	0.408																																					p.G661V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1982T	3						.						191.0	190.0	191.0					3																	52773495		2203	4300	6503	52748535	SO:0001583	missense	6787	exon13			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.2249G>T	3.37:g.52773495C>A	ENSP00000233027:p.Gly750Val	Somatic		Capture	SOLID	Phase_I	52748535	NM_001193533	A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900452	0.92035	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	D;D;D;D	0.92595	-2.78;-2.99;-2.73;-3.07	6.14	6.14	0.99180	.	0.000000	0.64402	D	0.000002	D	0.95959	0.8684	M	0.75264	2.295	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	0.95753	0.8793	10	0.87932	D	0	.	17.7765	0.88510	0.0:1.0:0.0:0.0	.	661;704;750	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	V	750;661;704;661	ENSP00000233027:G750V;ENSP00000437703:G661V;ENSP00000373227:G704V;ENSP00000419666:G661V	ENSP00000233027:G750V	G	-	2	0	NEK4	52748535	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	6.431000	0.73395	2.937000	0.99478	0.650000	0.86243	GGG		0.408	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157	
IL17RB	55540	hgsc.bcm.edu	37	3	53883749	53883749	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:53883749A>G	ENST00000288167.3	+	3	162	c.153A>G	c.(151-153)gaA>gaG	p.E51E		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	51					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)	p.E51E(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				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)		TCCGAGTAGAACCTGTTACAA	0.473																																					p.E51E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A153G	3						.						167.0	167.0	167.0					3																	53883749		2203	4300	6503	53858789	SO:0001819	synonymous_variant	55540	exon3			AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.153A>G	3.37:g.53883749A>G		Somatic		Capture	SOLID	Phase_I	53858789	NM_018725	Q9BPZ0|Q9NRL4|Q9NRM5	Silent	SNP	ENST00000288167.3	37	CCDS2874.1																																																																																				0.473	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234	
ARHGEF3	50650	hgsc.bcm.edu	37	3	56763361	56763361	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:56763361A>T	ENST00000296315.3	-	10	1686	c.1518T>A	c.(1516-1518)tgT>tgA	p.C506*	ARHGEF3_ENST00000497267.1_Nonsense_Mutation_p.C477*|ARHGEF3_ENST00000413728.2_Nonsense_Mutation_p.C512*|ARHGEF3_ENST00000338458.4_Nonsense_Mutation_p.C538*|ARHGEF3_ENST00000496106.1_Nonsense_Mutation_p.C512*	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	506					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C506*(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CCATGCGCTCACAGTCGAGGC	0.527																																					p.C538X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1614A	3						.						240.0	184.0	203.0					3																	56763361		2203	4300	6503	56738401	SO:0001587	stop_gained	50650	exon13			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.1518T>A	3.37:g.56763361A>T	ENSP00000296315:p.Cys506*	Somatic		Capture	SOLID	Phase_I	56738401	NM_001128615	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Nonsense_Mutation	SNP	ENST00000296315.3	37	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	A	39	7.603537	0.98384	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267	.	.	.	5.94	0.794	0.18638	.	0.116572	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1847	10.9549	0.47351	0.6144:0.0:0.3856:0.0	.	.	.	.	X	506;538;512;512;477	.	ENSP00000296315:C506X	C	-	3	2	ARHGEF3	56738401	0.999000	0.42202	0.998000	0.56505	0.986000	0.74619	0.710000	0.25748	-0.077000	0.12752	-0.379000	0.06801	TGT		0.527	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555	
FLNB	2317	hgsc.bcm.edu	37	3	58107067	58107067	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:58107067T>C	ENST00000295956.4	+	20	3128	c.2963T>C	c.(2962-2964)gTc>gCc	p.V988A	FLNB_ENST00000358537.3_Missense_Mutation_p.V988A|FLNB_ENST00000348383.5_Missense_Mutation_p.V988A|FLNB_ENST00000419752.2_Missense_Mutation_p.V819A|FLNB_ENST00000357272.4_Missense_Mutation_p.V988A|FLNB_ENST00000493452.1_Missense_Mutation_p.V819A|FLNB_ENST00000429972.2_Missense_Mutation_p.V988A|FLNB_ENST00000490882.1_Missense_Mutation_p.V988A	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	988					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.V988A(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)		TCTCGGAAGGTCGTGCCATGC	0.607																																					p.V988A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2963C	3						.						129.0	107.0	114.0					3																	58107067		2203	4300	6503	58082107	SO:0001583	missense	2317	exon20			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.2963T>C	3.37:g.58107067T>C	ENSP00000295956:p.Val988Ala	Somatic		Capture	SOLID	Phase_I	58082107	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	.	.	.	.	.	.	.	.	.	.	T	5.584	0.292542	0.10567	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.99	4.82	0.62117	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.359901	0.30930	N	0.008581	T	0.56848	0.2013	N	0.01779	-0.725	0.37018	D	0.896063	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	0.04013	0.001;0.001;0.001;0.0;0.001;0.001	T	0.55692	-0.8101	10	0.02654	T	1	.	4.1894	0.10414	0.0:0.1661:0.1864:0.6475	.	988;988;819;819;988;988	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	A	988;988;988;988;988;988;819;819	ENSP00000295956:V988A;ENSP00000420213:V988A;ENSP00000351339:V988A;ENSP00000415599:V988A;ENSP00000232447:V988A;ENSP00000349819:V988A;ENSP00000418510:V819A;ENSP00000414532:V819A	ENSP00000295956:V988A	V	+	2	0	FLNB	58082107	1.000000	0.71417	0.758000	0.31321	0.862000	0.49288	3.806000	0.55583	1.068000	0.40764	0.533000	0.62120	GTC		0.607	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
C3orf67	200844	hgsc.bcm.edu	37	3	58849480	58849480	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:58849480T>C	ENST00000482387.1	-	8	1118	c.1022A>G	c.(1021-1023)cAg>cGg	p.Q341R	C3orf67_ENST00000295966.7_Missense_Mutation_p.Q341R|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.Q248R			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	341								p.Q341R(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)		TTCCTCTGCCTGCTGGTCGTG	0.507																																					p.Q341R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1022G	3						.						122.0	121.0	121.0					3																	58849480		2203	4300	6503	58824520	SO:0001583	missense	200844	exon12			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.1022A>G	3.37:g.58849480T>C	ENSP00000417122:p.Gln341Arg	Somatic		Capture	SOLID	Phase_I	58824520	NM_198463	B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37		.	.	.	.	.	.	.	.	.	.	T	2.893	-0.229155	0.06022	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000394474;ENST00000472469	T;T;T	0.18502	2.26;2.25;2.21	4.96	2.44	0.29823	.	0.515803	0.18642	N	0.135279	T	0.15869	0.0382	L	0.54323	1.7	0.23361	N	0.997836	P;B;B	0.40731	0.728;0.275;0.435	B;B;B	0.41988	0.372;0.087;0.08	T	0.13656	-1.0501	10	0.17369	T	0.5	-1.2586	7.1998	0.25874	0.1456:0.0:0.1527:0.7017	.	248;341;341	C9J3M8;Q6ZVT6-2;Q6ZVT6	.;.;CC067_HUMAN	R	341;341;46;248	ENSP00000295966:Q341R;ENSP00000417122:Q341R;ENSP00000417271:Q248R	ENSP00000295966:Q341R	Q	-	2	0	C3orf67	58824520	0.006000	0.16342	0.174000	0.22961	0.123000	0.20343	1.435000	0.34969	0.278000	0.22164	0.533000	0.62120	CAG		0.507	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463	
THOC7	80145	hgsc.bcm.edu	37	3	63824062	63824062	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:63824062A>T	ENST00000295899.5	-	3	363	c.251T>A	c.(250-252)aTt>aAt	p.I84N	C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'UTR	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	84	Interaction with THOC5.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.I84N(1)		central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TTCCTTGTAAATTTTTTCATA	0.299																																					p.I84N	Colon(48;665 1127 6720 18651)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T251A	3						.						33.0	33.0	33.0					3																	63824062		2197	4291	6488	63799102	SO:0001583	missense	80145	exon3			BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"""THO complex subunits"""	29874	protein-coding gene	gene with protein product	"""Ngg1 interacting factor 3 like 1 binding protein 1"", ""functional spliceosome-associated protein 24"""	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.251T>A	3.37:g.63824062A>T	ENSP00000295899:p.Ile84Asn	Somatic		Capture	SOLID	Phase_I	63799102	NM_025075	Q6P1L3|Q8WUF2|Q9H5H0	Missense_Mutation	SNP	ENST00000295899.5	37	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319722	0.81469	.	.	ENSG00000163634	ENST00000295899	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	L	0.46157	1.445	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.62515	-0.6838	9	0.20519	T	0.43	-25.6259	15.884	0.79226	1.0:0.0:0.0:0.0	.	84	Q6I9Y2	THOC7_HUMAN	N	84	.	ENSP00000295899:I84N	I	-	2	0	THOC7	63799102	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.296000	0.96104	2.158000	0.67659	0.377000	0.23210	ATT		0.299	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	NM_025075	
PRICKLE2	166336	hgsc.bcm.edu	37	3	64085374	64085374	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:64085374A>G	ENST00000295902.6	-	8	2473	c.1888T>C	c.(1888-1890)Tac>Cac	p.Y630H	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.Y686H|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	630					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Y630H(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGGTCTCTGTAGCCAATGGGG	0.597																																					p.Y630H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1888C	3						.						109.0	99.0	103.0					3																	64085374		2203	4300	6503	64060414	SO:0001583	missense	166336	exon8			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1888T>C	3.37:g.64085374A>G	ENSP00000295902:p.Tyr630His	Somatic		Capture	SOLID	Phase_I	64060414	NM_198859	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.697963	0.68386	.	.	ENSG00000163637	ENST00000295902	D	0.89050	-2.46	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000004	D	0.89581	0.6756	L	0.58101	1.795	0.53005	D	0.999966	D	0.56521	0.976	P	0.47744	0.556	D	0.90863	0.4740	10	0.87932	D	0	-42.0206	15.8188	0.78624	1.0:0.0:0.0:0.0	.	630	Q7Z3G6	PRIC2_HUMAN	H	630	ENSP00000295902:Y630H	ENSP00000295902:Y630H	Y	-	1	0	PRICKLE2	64060414	1.000000	0.71417	0.894000	0.35097	0.991000	0.79684	6.725000	0.74752	2.145000	0.66743	0.482000	0.46254	TAC		0.597	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859	
EIF4E3	317649	hgsc.bcm.edu	37	3	71733851	71733851	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:71733851A>G	ENST00000425534.3	-	7	664	c.657T>C	c.(655-657)ggT>ggC	p.G219G	EIF4E3_ENST00000389826.3_Silent_p.G113G|EIF4E3_ENST00000448225.1_Silent_p.G113G|EIF4E3_ENST00000468147.1_5'UTR|EIF4E3_ENST00000295612.3_Silent_p.G113G|EIF4E3_ENST00000421769.2_Silent_p.G113G	NM_001134651.1	NP_001128123.1	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E family member 3	219					cytokine-mediated signaling pathway (GO:0019221)|regulation of translation (GO:0006417)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)	p.G113G(1)		large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		TTCCACGTCCACCTTCAAAAG	0.398																																					p.G113G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T339C	3						.						111.0	100.0	104.0					3																	71733851		2203	4300	6503	71816541	SO:0001819	synonymous_variant	317649	exon8			AK126999	CCDS33786.1, CCDS46867.1	3p14	2008-02-05	2006-11-13		ENSG00000163412	ENSG00000163412			31837	protein-coding gene	gene with protein product		609896	"""eukaryotic translation initiation factor 4E member 3"""			15153109	Standard	NM_173359		Approved	MGC39820	uc003dov.4	Q8N5X7	OTTHUMG00000158797	ENST00000425534.3:c.657T>C	3.37:g.71733851A>G		Somatic		Capture	SOLID	Phase_I	71816541	NM_173359	B2R963|Q6NUT1	Silent	SNP	ENST00000425534.3	37	CCDS46867.1																																																																																				0.398	EIF4E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352294.2	NM_173359	
PCYT1A	5130	hgsc.bcm.edu	37	3	195975092	195975092	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr3:195975092T>C	ENST00000292823.2	-	5	492	c.320A>G	c.(319-321)tAc>tGc	p.Y107C	PCYT1A_ENST00000419333.1_Missense_Mutation_p.Y107C|PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000431016.1_Missense_Mutation_p.Y107C|AC069257.8_ENST00000425275.1_RNA|AC069257.8_ENST00000608995.1_RNA	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	107					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)	p.Y107C(1)		cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CACAATGAGGTACGTATTAGG	0.453																																					p.Y107C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A320G	3						.						153.0	148.0	149.0					3																	195975092		2203	4300	6503	197459489	SO:0001583	missense	5130	exon5			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.320A>G	3.37:g.195975092T>C	ENSP00000292823:p.Tyr107Cys	Somatic		Capture	SOLID	Phase_I	197459489	NM_005017	A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	t	25.2	4.615803	0.87359	.	.	ENSG00000161217	ENST00000441879;ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000430755;ENST00000412869;ENST00000443555	D;D;D;D;D;D;D;D	0.97772	-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.53	5.98	5.98	0.97165	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.100830	0.64402	D	0.000001	D	0.99010	0.9662	H	0.94345	3.525	0.54753	D	0.999989	D	0.76494	0.999	D	0.66351	0.943	D	0.99457	1.0942	10	0.87932	D	0	-26.248	15.7107	0.77626	0.0:0.0:0.0:1.0	.	107	P49585	PCY1A_HUMAN	C	107;107;107;68;107;107;41;107;107	ENSP00000392397:Y107C;ENSP00000390968:Y107C;ENSP00000292823:Y107C;ENSP00000394617:Y107C;ENSP00000400430:Y107C;ENSP00000402283:Y41C;ENSP00000402015:Y107C;ENSP00000393341:Y107C	ENSP00000292823:Y107C	Y	-	2	0	PCYT1A	197459489	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	7.695000	0.84257	2.302000	0.77476	0.525000	0.51046	TAC		0.453	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017	
PAH	5053	hgsc.bcm.edu	37	12	103249052	103249052	+	Missense_Mutation	SNP	C	C	A	rs281865441		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:103249052C>A	ENST00000553106.1	-	6	1040	c.568G>T	c.(568-570)Gtg>Ttg	p.V190L	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Missense_Mutation_p.V185L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	190			V -> A (in PKU; haplotype 3). {ECO:0000269|PubMed:22513348, ECO:0000269|PubMed:9452062}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.V190L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GTCTTGAACACTGTGCCCCAT	0.443																																					p.V190L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G568T	12						.						123.0	115.0	118.0					12																	103249052		2203	4300	6503	101773182	SO:0001583	missense	5053	exon6			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.568G>T	12.37:g.103249052C>A	ENSP00000448059:p.Val190Leu	Somatic		Capture	SOLID	Phase_I	101773182	NM_000277	Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575052	0.45902	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99436	-5.9;-5.9	5.73	4.82	0.62117	Aromatic amino acid hydroxylase, C-terminal (3);	0.053759	0.64402	N	0.000001	D	0.98985	0.9654	L	0.33245	0.995	0.80722	D	1	D;P	0.59767	0.986;0.936	D;P	0.63283	0.913;0.615	D	0.99874	1.1101	10	0.66056	D	0.02	-17.669	16.5411	0.84385	0.0:0.8692:0.1308:0.0	.	190;190	B4DPN2;P00439	.;PH4H_HUMAN	L	190;185	ENSP00000448059:V190L;ENSP00000303500:V185L	ENSP00000303500:V185L	V	-	1	0	PAH	101773182	1.000000	0.71417	0.826000	0.32828	0.019000	0.09904	6.088000	0.71371	1.384000	0.46424	0.555000	0.69702	GTG		0.443	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1		
HCFC2	29915	hgsc.bcm.edu	37	12	104495783	104495783	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:104495783A>C	ENST00000229330.4	+	14	2020	c.1916A>C	c.(1915-1917)aAg>aCg	p.K639T	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	639	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.K639T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AGCTTGCTTAAGAAACAAGAT	0.343																																					p.K639T	Esophageal Squamous(184;1814 2036 4771 6974 15702)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1916C	12						.						131.0	119.0	123.0					12																	104495783		2203	4300	6503	103019913	SO:0001583	missense	29915	exon14			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1916A>C	12.37:g.104495783A>C	ENSP00000229330:p.Lys639Thr	Somatic		Capture	SOLID	Phase_I	103019913	NM_013320	B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.669601	0.67814	.	.	ENSG00000111727	ENST00000229330	T	0.50001	0.76	5.16	5.16	0.70880	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.223487	0.46145	D	0.000319	T	0.63827	0.2544	L	0.56124	1.755	0.45852	D	0.998716	D	0.71674	0.998	D	0.78314	0.991	T	0.64980	-0.6279	10	0.51188	T	0.08	-15.1011	15.2702	0.73696	1.0:0.0:0.0:0.0	.	639	Q9Y5Z7	HCFC2_HUMAN	T	639	ENSP00000229330:K639T	ENSP00000229330:K639T	K	+	2	0	HCFC2	103019913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.850000	0.92190	2.056000	0.61249	0.533000	0.62120	AAG		0.343	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320	
POLR3B	55703	hgsc.bcm.edu	37	12	106773910	106773910	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:106773910T>C	ENST00000228347.4	+	9	938	c.716T>C	c.(715-717)aTa>aCa	p.I239T	POLR3B_ENST00000539066.1_Missense_Mutation_p.I181T	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	239					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.I239T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ATTGTCATCATATTTAAGGTA	0.338																																					p.I239T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T716C	12						.						105.0	94.0	98.0					12																	106773910		2203	4300	6503	105298040	SO:0001583	missense	55703	exon9			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.716T>C	12.37:g.106773910T>C	ENSP00000228347:p.Ile239Thr	Somatic		Capture	SOLID	Phase_I	105298040	NM_018082	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.291677	0.80914	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.68181	-0.31;-0.31	5.71	5.71	0.89125	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.042079	0.85682	D	0.000000	T	0.73016	0.3533	M	0.66939	2.045	0.80722	D	1	P	0.38250	0.624	P	0.45794	0.493	T	0.76192	-0.3049	10	0.87932	D	0	-21.9486	15.6379	0.76970	0.0:0.0:0.0:1.0	.	239	Q9NW08	RPC2_HUMAN	T	239;239;181	ENSP00000228347:I239T;ENSP00000445721:I181T	ENSP00000228347:I239T	I	+	2	0	POLR3B	105298040	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.569000	0.82380	2.175000	0.68902	0.477000	0.44152	ATA		0.338	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	
POLR3B	55703	hgsc.bcm.edu	37	12	106838327	106838327	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:106838327C>T	ENST00000228347.4	+	19	2264	c.2042C>T	c.(2041-2043)cCg>cTg	p.P681L	POLR3B_ENST00000539066.1_Missense_Mutation_p.P623L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	681					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.P681L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AACCAGTCACCGAGAAACACT	0.443																																					p.P681L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2042T	12						.						151.0	119.0	130.0					12																	106838327		2203	4300	6503	105362457	SO:0001583	missense	55703	exon19			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2042C>T	12.37:g.106838327C>T	ENSP00000228347:p.Pro681Leu	Somatic		Capture	SOLID	Phase_I	105362457	NM_018082	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099580	0.94197	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.80994	-1.44;-1.44	5.29	5.29	0.74685	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.94032	0.8088	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96187	0.9135	10	0.87932	D	0	-1.2182	18.926	0.92544	0.0:1.0:0.0:0.0	.	681	Q9NW08	RPC2_HUMAN	L	681;623	ENSP00000228347:P681L;ENSP00000445721:P623L	ENSP00000228347:P681L	P	+	2	0	POLR3B	105362457	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.741000	0.84997	2.485000	0.83878	0.585000	0.79938	CCG		0.443	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	
ACACB	32	hgsc.bcm.edu	37	12	109690932	109690932	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:109690932C>T	ENST00000338432.7	+	43	6133	c.6014C>T	c.(6013-6015)aCc>aTc	p.T2005I	ACACB_ENST00000543201.1_Missense_Mutation_p.T671I|ACACB_ENST00000377854.5_Missense_Mutation_p.T1935I|ACACB_ENST00000377848.3_Missense_Mutation_p.T2005I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2005	Carboxyltransferase.				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.T2005I(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)	GGGGTTTATACCATCCTGGAG	0.498																																					p.T2005I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6014T	12						.						295.0	260.0	272.0					12																	109690932		2203	4300	6503	108175315	SO:0001583	missense	32	exon42			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.6014C>T	12.37:g.109690932C>T	ENSP00000341044:p.Thr2005Ile	Somatic		Capture	SOLID	Phase_I	108175315	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854078	0.91355	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	5.35	5.35	0.76521	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.98469	0.9490	M	0.81239	2.535	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.98773	1.0729	10	0.62326	D	0.03	.	19.9585	0.97232	0.0:1.0:0.0:0.0	.	2005	O00763	ACACB_HUMAN	I	2005;2005;1935;1236;671	ENSP00000341044:T2005I;ENSP00000367079:T2005I;ENSP00000367085:T1935I;ENSP00000444075:T671I	ENSP00000341044:T2005I	T	+	2	0	ACACB	108175315	1.000000	0.71417	0.996000	0.52242	0.899000	0.52679	7.767000	0.85331	2.894000	0.99253	0.655000	0.94253	ACC		0.498	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
TAS2R20	259295	hgsc.bcm.edu	37	12	11150039	11150039	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:11150039T>C	ENST00000538986.1	-	1	435	c.436A>G	c.(436-438)Atg>Gtg	p.M146V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	146					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M146V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GTGTGTTTCATCACAAGGTGA	0.383																																					p.M146V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A436G	12						.						141.0	125.0	130.0					12																	11150039		2203	4300	6503	11041306	SO:0001583	missense	259295	exon1			AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.436A>G	12.37:g.11150039T>C	ENSP00000441624:p.Met146Val	Somatic		Capture	SOLID	Phase_I	11041306	NM_176889	P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.871667	0.00062	.	.	ENSG00000255837	ENST00000538986	T	0.36340	1.26	2.82	-5.63	0.02474	.	1.650260	0.04688	N	0.413521	T	0.09642	0.0237	N	0.02202	-0.64	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16808	-1.0390	10	0.02654	T	1	.	0.4248	0.00461	0.2342:0.1604:0.2329:0.3726	.	146	P59543	T2R20_HUMAN	V	146	ENSP00000441624:M146V	ENSP00000441624:M146V	M	-	1	0	TAS2R20	11041306	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.323000	0.00131	-2.715000	0.00391	-0.993000	0.02533	ATG		0.383	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889	
GPN3	51184	hgsc.bcm.edu	37	12	110893423	110893423	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:110893423A>T	ENST00000228827.3	-	6	693	c.631T>A	c.(631-633)Ttc>Atc	p.F211I	GPN3_ENST00000537466.2_Missense_Mutation_p.F221I|GPN3_ENST00000543199.1_Missense_Mutation_p.F250I	NM_016301.3	NP_057385.3			GPN-loop GTPase 3									p.F211I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						AGTTTCTTGAATTTTTTGCTT	0.358																																					p.F211I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T631A	12						.						95.0	102.0	99.0					12																	110893423		2203	4299	6502	109377806	SO:0001583	missense	51184	exon6			BC008416	CCDS9147.1, CCDS53830.1, CCDS53831.1	12q24.11	2012-12-18	2008-04-30	2008-04-30	ENSG00000111231	ENSG00000111231		"""GPN-loop GTPases"""	30186	protein-coding gene	gene with protein product			"""ATP binding domain 1 family, member C"""	ATPBD1C		12975309	Standard	NM_016301		Approved	MGC14560	uc021rdu.1	Q9UHW5	OTTHUMG00000169524	ENST00000228827.3:c.631T>A	12.37:g.110893423A>T	ENSP00000228827:p.Phe211Ile	Somatic		Capture	SOLID	Phase_I	109377806	NM_016301		Missense_Mutation	SNP	ENST00000228827.3	37	CCDS9147.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118305	0.77323	.	.	ENSG00000111231	ENST00000228827;ENST00000543199;ENST00000537466;ENST00000551079	T;T;T;T	0.49432	0.78;0.78;0.78;1.99	6.06	4.9	0.64082	.	0.040721	0.85682	D	0.000000	T	0.60340	0.2261	M	0.76727	2.345	0.80722	D	1	P;P	0.50272	0.933;0.624	P;B	0.52672	0.706;0.3	T	0.64681	-0.6350	10	0.87932	D	0	.	12.6099	0.56546	0.8756:0.0:0.0:0.1244	.	221;211	Q9UHW5-2;Q9UHW5	.;GPN3_HUMAN	I	211;250;221;61	ENSP00000228827:F211I;ENSP00000442770:F250I;ENSP00000443068:F221I;ENSP00000448159:F61I	ENSP00000228827:F211I	F	-	1	0	GPN3	109377806	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.889000	0.92470	1.072000	0.40860	0.533000	0.62120	TTC		0.358	GPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404607.1	NM_016301	
KIAA1467	57613	hgsc.bcm.edu	37	12	13214522	13214522	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:13214522A>G	ENST00000197268.8	+	4	666	c.546A>G	c.(544-546)ccA>ccG	p.P182P		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	182						integral component of membrane (GO:0016021)		p.P182P(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCTCAAGACCAGCTGCTAATC	0.468																																					p.P182P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A546G	12						.						109.0	91.0	97.0					12																	13214522		2203	4300	6503	13105789	SO:0001819	synonymous_variant	57613	exon4			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.546A>G	12.37:g.13214522A>G		Somatic		Capture	SOLID	Phase_I	13105789	NM_020853	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Silent	SNP	ENST00000197268.8	37	CCDS31750.1																																																																																				0.468	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	
MED13L	23389	hgsc.bcm.edu	37	12	116421303	116421303	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:116421303A>G	ENST00000281928.3	-	21	4780	c.4574T>C	c.(4573-4575)aTa>aCa	p.I1525T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1525						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.I1525T(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTAGGTGGTATCAATAGGCT	0.507											OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I1525T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4574C	12						.						98.0	102.0	101.0					12																	116421303		2203	4300	6503	114905686	SO:0001583	missense	23389	exon21			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4574T>C	12.37:g.116421303A>G	ENSP00000281928:p.Ile1525Thr	Somatic	1473	Capture	SOLID	Phase_I	114905686	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100843	0.37048	.	.	ENSG00000123066	ENST00000281928	T	0.68331	-0.32	6.17	2.61	0.31194	.	0.416223	0.29537	N	0.011862	T	0.37652	0.1011	N	0.03115	-0.41	0.26319	N	0.9777	B	0.02656	0.0	B	0.01281	0.0	T	0.19484	-1.0304	10	0.14656	T	0.56	.	9.639	0.39828	0.8061:0.0:0.1939:0.0	.	1525	Q71F56	MD13L_HUMAN	T	1525	ENSP00000281928:I1525T	ENSP00000281928:I1525T	I	-	2	0	MED13L	114905686	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.700000	0.61803	0.217000	0.20800	0.533000	0.62120	ATA		0.507	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
EP400	57634	hgsc.bcm.edu	37	12	132508421	132508421	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:132508421G>A	ENST00000333577.4	+	25	5007	c.4898G>A	c.(4897-4899)aGc>aAc	p.S1633N	EP400_ENST00000332482.4_Missense_Mutation_p.S1560N|EP400_ENST00000389562.2_Missense_Mutation_p.S1596N|EP400_ENST00000389561.2_Missense_Mutation_p.S1597N|EP400_ENST00000330386.6_Missense_Mutation_p.S1516N			Q96L91	EP400_HUMAN	E1A binding protein p400	1633					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)	p.S1596N(1)		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)		TTCCAGGGCAGCAAGTTCACC	0.592																																					p.S1596N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4787A	12						.						40.0	39.0	39.0					12																	132508421		2203	4300	6503	131074374	SO:0001583	missense	57634	exon24			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.4898G>A	12.37:g.132508421G>A	ENSP00000333602:p.Ser1633Asn	Somatic		Capture	SOLID	Phase_I	131074374	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	12.29	1.892246	0.33442	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.87491	-2.25;-2.26;-2.24;-2.24;-2.05	5.21	2.93	0.34026	.	0.043704	0.85682	N	0.000000	T	0.51227	0.1662	N	0.00142	-2.005	0.23454	N	0.997646	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.56631	-0.7947	10	0.02654	T	1	.	7.7738	0.29023	0.8205:0.0:0.1795:0.0	.	1597;1516;1596	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	N	1633;1597;1596;1560;1516;1597;1516	ENSP00000333602:S1633N;ENSP00000374212:S1597N;ENSP00000374213:S1596N;ENSP00000331737:S1560N;ENSP00000330620:S1516N	ENSP00000330620:S1516N	S	+	2	0	EP400	131074374	1.000000	0.71417	0.999000	0.59377	0.639000	0.38242	7.389000	0.79806	0.359000	0.24239	0.655000	0.94253	AGC		0.592	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
TSPAN9	10867	hgsc.bcm.edu	37	12	3389587	3389587	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:3389587C>G	ENST00000011898.5	+	6	531	c.370C>G	c.(370-372)Ctg>Gtg	p.L124V	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Missense_Mutation_p.L124V|TSPAN9_ENST00000407263.1_Missense_Mutation_p.L124V	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	124						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)		p.L124V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GGAAGGCCTGCTGCTGTACCA	0.642																																					p.L124V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C370G	12						.						148.0	102.0	117.0					12																	3389587		2203	4300	6503	3259848	SO:0001583	missense	10867	exon5			AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.370C>G	12.37:g.3389587C>G	ENSP00000011898:p.Leu124Val	Somatic		Capture	SOLID	Phase_I	3259848	NM_001168320	D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	ENST00000011898.5	37	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	c	10.52	1.373518	0.24857	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	D;D;D	0.86956	-2.19;-2.19;-2.19	4.79	3.9	0.45041	Tetraspanin, EC2 domain (1);	0.490245	0.21467	N	0.074072	T	0.68686	0.3028	N	0.03084	-0.415	0.23665	N	0.997165	B	0.06786	0.001	B	0.08055	0.003	T	0.55780	-0.8087	10	0.23891	T	0.37	.	7.5821	0.27972	0.0:0.8032:0.0:0.1968	.	124	O75954	TSN9_HUMAN	V	124	ENSP00000444799:L124V;ENSP00000011898:L124V;ENSP00000384488:L124V	ENSP00000011898:L124V	L	+	1	2	TSPAN9	3259848	0.453000	0.25721	0.951000	0.38953	0.793000	0.44817	0.835000	0.27531	1.009000	0.39289	0.457000	0.33378	CTG		0.642	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675	
AKAP3	10566	hgsc.bcm.edu	37	12	4736605	4736605	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:4736605G>T	ENST00000545990.2	-	5	1987	c.1463C>A	c.(1462-1464)cCt>cAt	p.P488H	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.P488H	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	488					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.P488H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTCTGATGCAGGCTTACGCTG	0.438																																					p.P488H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1463A	12						.						73.0	68.0	70.0					12																	4736605		2203	4300	6503	4606866	SO:0001583	missense	10566	exon4			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1463C>A	12.37:g.4736605G>T	ENSP00000440994:p.Pro488His	Somatic		Capture	SOLID	Phase_I	4606866	NM_006422	O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	9.633	1.137008	0.21123	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.07800	3.16;3.16	5.65	1.4	0.22301	A-kinase anchor 110kDa, C-terminal (1);	0.449291	0.21329	N	0.076336	T	0.16342	0.0393	M	0.63428	1.95	0.09310	N	1	D	0.56746	0.977	P	0.57548	0.823	T	0.03910	-1.0993	10	0.87932	D	0	-3.8329	6.147	0.20291	0.1499:0.0:0.5907:0.2594	.	488	O75969	AKAP3_HUMAN	H	488	ENSP00000228850:P488H;ENSP00000440994:P488H	ENSP00000228850:P488H	P	-	2	0	AKAP3	4606866	0.005000	0.15991	0.000000	0.03702	0.012000	0.07955	0.898000	0.28404	0.372000	0.24591	0.655000	0.94253	CCT		0.438	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422	
NCAPD2	9918	hgsc.bcm.edu	37	12	6620322	6620322	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:6620322A>G	ENST00000315579.5	+	6	1290	c.491A>G	c.(490-492)gAa>gGa	p.E164G	SCARNA10_ENST00000459255.1_RNA|NCAPD2_ENST00000545962.1_Missense_Mutation_p.E119G	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	164	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.E164G(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GACTGGGAAGAAGAGAGGCAA	0.428																																					p.E164G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A491G	12						.						123.0	123.0	123.0					12																	6620322		2203	4300	6503	6490583	SO:0001583	missense	9918	exon6			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.491A>G	12.37:g.6620322A>G	ENSP00000325017:p.Glu164Gly	Somatic		Capture	SOLID	Phase_I	6490583	NM_014865	D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759118	0.49468	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.46063	0.88;0.88	5.68	5.68	0.88126	Condensin complex, subunit 1, N-terminal (1);	0.426981	0.28533	N	0.015018	T	0.34571	0.0902	L	0.34521	1.04	0.32094	N	0.591546	P;D	0.55172	0.825;0.97	B;P	0.45167	0.341;0.472	T	0.40924	-0.9537	10	0.24483	T	0.36	-20.5784	11.868	0.52505	0.8543:0.1457:0.0:0.0	.	119;164	F5GZJ1;Q15021	.;CND1_HUMAN	G	164;119	ENSP00000325017:E164G;ENSP00000444417:E119G	ENSP00000325017:E164G	E	+	2	0	NCAPD2	6490583	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	4.691000	0.61738	2.169000	0.68431	0.528000	0.53228	GAA		0.428	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865	
ENO2	2026	hgsc.bcm.edu	37	12	7031525	7031525	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:7031525T>C	ENST00000535366.1	+	10	1821	c.1195T>C	c.(1195-1197)Tgc>Cgc	p.C399R	ATN1_ENST00000356654.4_5'Flank|ENO2_ENST00000544774.1_Missense_Mutation_p.C356R|ENO2_ENST00000541477.1_Missense_Mutation_p.C399R|ENO2_ENST00000538763.1_Missense_Mutation_p.C356R|ENO2_ENST00000534977.1_3'UTR|ENO2_ENST00000545045.2_Missense_Mutation_p.C280R|ENO2_ENST00000229277.1_Missense_Mutation_p.C399R			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	399					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)	p.C399R(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGGTGCCCCGTGCCGTTCTGA	0.557																																					p.C399R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1195C	12						.						92.0	82.0	86.0					12																	7031525		2203	4300	6503	6901786	SO:0001583	missense	2026	exon11			M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.1195T>C	12.37:g.7031525T>C	ENSP00000437402:p.Cys399Arg	Somatic		Capture	SOLID	Phase_I	6901786	NM_001975	B7Z2X9|Q96J33	Missense_Mutation	SNP	ENST00000535366.1	37	CCDS8570.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.056960	0.76074	.	.	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366;ENST00000545045	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	4.22	4.22	0.49857	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77758	0.4178	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	0.962;1.0	D;D	0.87578	0.932;0.998	D	0.83921	0.0301	10	0.87932	D	0	-13.7021	13.7603	0.62961	0.0:0.0:0.0:1.0	.	356;399	B7Z2X9;P09104	.;ENOG_HUMAN	R	399;399;356;356;399;280	ENSP00000438873:C399R;ENSP00000229277:C399R;ENSP00000441490:C356R;ENSP00000446195:C356R;ENSP00000437402:C399R;ENSP00000438062:C280R	ENSP00000229277:C399R	C	+	1	0	ENO2	6901786	1.000000	0.71417	0.957000	0.39632	0.956000	0.61745	7.868000	0.87116	1.912000	0.55364	0.374000	0.22700	TGC		0.557	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1		
LPCAT3	10162	hgsc.bcm.edu	37	12	7090313	7090313	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:7090313G>T	ENST00000261407.4	-	6	615	c.530C>A	c.(529-531)gCc>gAc	p.A177D	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'Flank	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	177					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)	p.A177D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						ACCACGTATGGCATATTTCTG	0.473																																					p.A177D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C530A	12						.						81.0	79.0	79.0					12																	7090313		2203	4300	6503	6960574	SO:0001583	missense	10162	exon6			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.530C>A	12.37:g.7090313G>T	ENSP00000261407:p.Ala177Asp	Somatic		Capture	SOLID	Phase_I	6960574	NM_005768	B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059469	0.93846	.	.	ENSG00000111684	ENST00000261407	T	0.74315	-0.83	5.88	5.88	0.94601	.	1.480790	0.03788	N	0.262359	D	0.88829	0.6543	M	0.90019	3.08	0.80722	D	1	D	0.64830	0.994	P	0.59288	0.855	T	0.77846	-0.2436	10	0.40728	T	0.16	-16.5391	14.3978	0.67022	0.0701:0.0:0.9299:0.0	.	177	Q6P1A2	MBOA5_HUMAN	D	177	ENSP00000261407:A177D	ENSP00000261407:A177D	A	-	2	0	LPCAT3	6960574	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.162000	0.77515	2.782000	0.95742	0.655000	0.94253	GCC		0.473	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768	
CD163	9332	hgsc.bcm.edu	37	12	7647923	7647923	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:7647923T>C	ENST00000359156.4	-	6	1376	c.1174A>G	c.(1174-1176)Aga>Gga	p.R392G	CD163_ENST00000396620.3_Missense_Mutation_p.R392G|CD163_ENST00000541972.1_Missense_Mutation_p.R380G|CD163_ENST00000432237.2_Missense_Mutation_p.R392G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	392	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R392G(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CCTAACAGTCTCTGAATCTCC	0.488																																					p.R392G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1174G	12						.						147.0	130.0	136.0					12																	7647923		2203	4300	6503	7539190	SO:0001583	missense	9332	exon6			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1174A>G	12.37:g.7647923T>C	ENSP00000352071:p.Arg392Gly	Somatic		Capture	SOLID	Phase_I	7539190	NM_203416	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	T	4.688	0.127846	0.08981	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.01	3.88	0.44766	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.604283	0.16755	N	0.200860	T	0.03263	0.0095	N	0.00165	-1.945	0.23978	N	0.996288	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.41431	-0.9509	10	0.02654	T	1	.	5.6705	0.17719	0.0:0.1797:0.0:0.8203	.	392;392;392	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	G	392;380;392;392	ENSP00000352071:R392G;ENSP00000444071:R380G;ENSP00000379863:R392G;ENSP00000403885:R392G	ENSP00000352071:R392G	R	-	1	2	CD163	7539190	0.000000	0.05858	0.962000	0.40283	0.878000	0.50629	-1.160000	0.03147	2.240000	0.73641	0.528000	0.53228	AGA		0.488	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
M6PR	4074	hgsc.bcm.edu	37	12	9098838	9098838	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:9098838G>C	ENST00000000412.3	-	2	631	c.163C>G	c.(163-165)Ctg>Gtg	p.L55V		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	55					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)	p.L55V(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	TTATTAAACAGTGGTTTCAGC	0.358																																					p.L55V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C163G	12						.						127.0	123.0	125.0					12																	9098838		2203	4300	6503	8990105	SO:0001583	missense	4074	exon2				CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.163C>G	12.37:g.9098838G>C	ENSP00000000412:p.Leu55Val	Somatic		Capture	SOLID	Phase_I	8990105	NM_002355	A8K528|D3DUV5	Missense_Mutation	SNP	ENST00000000412.3	37	CCDS8598.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311587	0.60414	.	.	ENSG00000003056	ENST00000000412;ENST00000543845;ENST00000543159	D;D;D	0.87412	-2.25;-2.25;-2.25	5.82	4.93	0.64822	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	D	0.92153	0.7512	M	0.72894	2.215	0.47737	D	0.999508	D	0.76494	0.999	D	0.80764	0.994	D	0.92330	0.5873	10	0.56958	D	0.05	-10.8356	12.6691	0.56857	0.0765:0.0:0.9235:0.0	.	55	P20645	MPRD_HUMAN	V	55	ENSP00000000412:L55V;ENSP00000440962:L55V;ENSP00000441030:L55V	ENSP00000000412:L55V	L	-	1	2	M6PR	8990105	1.000000	0.71417	0.996000	0.52242	0.796000	0.44982	3.103000	0.50298	1.476000	0.48215	0.655000	0.94253	CTG		0.358	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1		
GRIN2B	2904	hgsc.bcm.edu	37	12	13715814	13715814	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:13715814T>C	ENST00000609686.1	-	13	4567	c.4358A>G	c.(4357-4359)aAc>aGc	p.N1453S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1453					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.N1453S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACACAGGGGTTGGACTGGTT	0.532																																					p.N1453S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4358G	12						.						106.0	105.0	105.0					12																	13715814		2203	4300	6503	13607081	SO:0001583	missense	2904	exon13				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.4358A>G	12.37:g.13715814T>C	ENSP00000477455:p.Asn1453Ser	Somatic		Capture	SOLID	Phase_I	13607081	NM_000834	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	T	2.991	-0.208073	0.06180	.	.	ENSG00000150086	ENST00000279593	T	0.10960	2.82	5.04	5.04	0.67666	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.136462	0.64402	D	0.000012	T	0.08403	0.0209	L	0.29908	0.895	0.48236	D	0.999612	B	0.28933	0.228	B	0.30251	0.113	T	0.06734	-1.0810	10	0.06365	T	0.9	.	14.9604	0.71153	0.0:0.0:0.0:1.0	.	1453	Q13224	NMDE2_HUMAN	S	1453	ENSP00000279593:N1453S	ENSP00000279593:N1453S	N	-	2	0	GRIN2B	13607081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.488000	0.53229	2.114000	0.64651	0.533000	0.62120	AAC		0.532	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
GUCY2C	2984	hgsc.bcm.edu	37	12	14792873	14792873	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:14792873T>C	ENST00000261170.3	-	19	2216	c.2080A>G	c.(2080-2082)Aga>Gga	p.R694G		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	694	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.R694G(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTTTCCACTCTGAAAATCTTC	0.368																																					p.R694G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2080G	12						.						91.0	94.0	93.0					12																	14792873		2203	4300	6503	14684140	SO:0001583	missense	2984	exon19				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.2080A>G	12.37:g.14792873T>C	ENSP00000261170:p.Arg694Gly	Somatic		Capture	SOLID	Phase_I	14684140	NM_004963	B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518906	0.64634	.	.	ENSG00000070019	ENST00000261170	D	0.81579	-1.51	4.69	3.45	0.39498	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	L	0.53780	1.695	0.58432	D	0.999995	P	0.44877	0.845	P	0.50231	0.635	T	0.82301	-0.0525	10	0.62326	D	0.03	.	10.5085	0.44847	0.0:0.0:0.1623:0.8376	.	694	P25092	GUC2C_HUMAN	G	694	ENSP00000261170:R694G	ENSP00000261170:R694G	R	-	1	2	GUCY2C	14684140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.265000	0.43311	1.880000	0.54463	0.533000	0.62120	AGA		0.368	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1		
SLCO1C1	53919	hgsc.bcm.edu	37	12	20868127	20868127	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:20868127T>G	ENST00000266509.2	+	6	952	c.584T>G	c.(583-585)cTt>cGt	p.L195R	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.L195R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.L195R|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.L77R|SLCO1C1_ENST00000540354.1_Intron	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	195					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L195R(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CTGGGCAATCTTCTTCGTGGA	0.398																																					p.L195R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T584G	12						.						206.0	196.0	200.0					12																	20868127		2203	4300	6503	20759394	SO:0001583	missense	53919	exon6			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.584T>G	12.37:g.20868127T>G	ENSP00000266509:p.Leu195Arg	Somatic		Capture	SOLID	Phase_I	20759394	NM_017435	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348302	0.82132	.	.	ENSG00000139155	ENST00000545604;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;D	0.82803	0.1;0.1;0.1;-1.65	4.99	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.203091	0.44097	D	0.000496	D	0.91981	0.7460	M	0.89414	3.03	0.54753	D	0.999982	D;D;D	0.71674	0.998;0.994;0.994	D;D;D	0.72982	0.964;0.979;0.969	D	0.93575	0.6907	10	0.87932	D	0	.	14.9829	0.71324	0.0:0.0:0.0:1.0	.	77;195;195	F5GZD6;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	R	195;195;195;77	ENSP00000444149:L195R;ENSP00000266509:L195R;ENSP00000370964:L195R;ENSP00000444527:L77R	ENSP00000266509:L195R	L	+	2	0	SLCO1C1	20759394	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	5.922000	0.70036	2.001000	0.58596	0.460000	0.39030	CTT		0.398	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435	
GYS2	2998	hgsc.bcm.edu	37	12	21689898	21689898	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:21689898T>C	ENST00000261195.2	-	16	2356	c.2102A>G	c.(2101-2103)tAt>tGt	p.Y701C		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	701					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.Y701C(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAGTTCTTATATTCACCATG	0.358																																					p.Y701C	Colon(149;9 1820 3690 10544 50424)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2102G	12						.						138.0	111.0	120.0					12																	21689898		2203	4300	6503	21581165	SO:0001583	missense	2998	exon16				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.2102A>G	12.37:g.21689898T>C	ENSP00000261195:p.Tyr701Cys	Somatic		Capture	SOLID	Phase_I	21581165	NM_021957	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.375928	0.42105	.	.	ENSG00000111713	ENST00000261195	T	0.64991	-0.13	5.46	4.28	0.50868	.	0.386281	0.27759	N	0.017972	T	0.39091	0.1065	N	0.08118	0	0.27038	N	0.964078	P	0.34462	0.454	B	0.34038	0.174	T	0.31641	-0.9936	10	0.56958	D	0.05	-16.757	7.6309	0.28238	0.1389:0.0:0.1454:0.7157	.	701	P54840	GYS2_HUMAN	C	701	ENSP00000261195:Y701C	ENSP00000261195:Y701C	Y	-	2	0	GYS2	21581165	0.997000	0.39634	0.997000	0.53966	0.966000	0.64601	2.049000	0.41288	0.859000	0.35456	0.533000	0.62120	TAT		0.358	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957	
ABCC9	10060	hgsc.bcm.edu	37	12	21995327	21995327	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:21995327T>C	ENST00000261201.4	-	27	3393	c.3394A>G	c.(3394-3396)Act>Gct	p.T1132A	ABCC9_ENST00000261200.4_Missense_Mutation_p.T1132A|ABCC9_ENST00000345162.2_Missense_Mutation_p.T1096A|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1132	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.T1132A(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AACACAGGAGTAGCATAAGAA	0.453																																					p.T1132A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3394G	12						.						169.0	146.0	154.0					12																	21995327		2203	4300	6503	21886594	SO:0001583	missense	10060	exon27			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3394A>G	12.37:g.21995327T>C	ENSP00000261201:p.Thr1132Ala	Somatic		Capture	SOLID	Phase_I	21886594	NM_020297	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629276	0.67015	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	5.31	5.31	0.75309	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.88908	0.6565	M	0.68593	2.085	0.58432	D	0.999998	B;B	0.22146	0.065;0.046	B;B	0.29440	0.102;0.021	D	0.87212	0.2248	10	0.72032	D	0.01	-18.9015	15.4324	0.75112	0.0:0.0:0.0:1.0	.	1132;1132	O60706;O60706-2	ABCC9_HUMAN;.	A	1132;759;1132;1096	ENSP00000261200:T1132A;ENSP00000440521:T759A;ENSP00000261201:T1132A;ENSP00000261202:T1096A	ENSP00000261200:T1132A	T	-	1	0	ABCC9	21886594	1.000000	0.71417	0.984000	0.44739	0.913000	0.54294	6.112000	0.71547	2.231000	0.72958	0.460000	0.39030	ACT		0.453	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ASUN	55726	hgsc.bcm.edu	37	12	27066462	27066462	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:27066462T>C	ENST00000261191.7	-	14	2269	c.1733A>G	c.(1732-1734)gAa>gGa	p.E578G	ASUN_ENST00000539625.1_Missense_Mutation_p.E477G	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	578					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E578G(1)									CTCTTTGTCTTCCCTCTTTCT	0.443																																					p.E578G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1733G	12						.						394.0	363.0	374.0					12																	27066462		2203	4300	6503	26957729	SO:0001583	missense	55726	exon14			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1733A>G	12.37:g.27066462T>C	ENSP00000261191:p.Glu578Gly	Somatic		Capture	SOLID	Phase_I	26957729	NM_018164	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.684396|4.684396	0.88639|0.88639	.|.	.|.	ENSG00000064102|ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745|ENST00000261190	T;T;T|.	0.44881|.	0.91;0.91;0.91|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.055868|.	0.64402|.	N|.	0.000001|.	T|T	0.55768|0.55768	0.1941|0.1941	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.996|.	D;P|.	0.83275|.	0.996;0.867|.	T|T	0.51980|0.51980	-0.8636|-0.8636	10|6	0.42905|0.02654	T|T	0.14|1	-15.0433|-15.0433	14.0987|14.0987	0.65039|0.65039	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	578;477|.	Q9NVM9;B4DNK1|.	M89BB_HUMAN;.|.	G|E	225;578;477;165|75	ENSP00000445645:E225G;ENSP00000261191:E578G;ENSP00000443724:E477G|.	ENSP00000261191:E578G|ENSP00000261190:K75E	E|K	-|-	2|1	0|0	C12orf11|C12orf11	26957729|26957729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.661000|7.661000	0.83786|0.83786	2.202000|2.202000	0.70862|0.70862	0.482000|0.482000	0.46254|0.46254	GAA|AAG		0.443	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164	
KLHL42	57542	hgsc.bcm.edu	37	12	27950801	27950801	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:27950801G>A	ENST00000381271.2	+	3	1531	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	407					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.R407H(1)									GGGCCCAACCGCAGGAGCAGC	0.577																																					p.R407H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1220A	12						.						102.0	89.0	93.0					12																	27950801		2203	4300	6503	27842068	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.1220G>A	12.37:g.27950801G>A	ENSP00000370671:p.Arg407His	Somatic		Capture	SOLID	Phase_I	27842068	NM_020782	Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553689	0.45487	.	.	ENSG00000087448	ENST00000381271	T	0.75589	-0.95	5.42	3.18	0.36537	Kelch-type beta propeller (1);	0.157867	0.47852	D	0.000218	T	0.52435	0.1734	L	0.34521	1.04	0.09310	N	1	P	0.43314	0.803	B	0.29353	0.101	T	0.53795	-0.8388	10	0.56958	D	0.05	.	4.7987	0.13284	0.2016:0.2117:0.5867:0.0	.	407	Q9P2K6	KLDC5_HUMAN	H	407	ENSP00000370671:R407H	ENSP00000370671:R407H	R	+	2	0	KLHDC5	27842068	0.076000	0.21285	0.073000	0.20177	0.981000	0.71138	2.266000	0.43320	1.217000	0.43442	0.655000	0.94253	CGC		0.577	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782	
LRRK2	120892	hgsc.bcm.edu	37	12	40689326	40689326	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:40689326T>G	ENST00000298910.7	+	23	3034	c.2976T>G	c.(2974-2976)aaT>aaG	p.N992K	LRRK2_ENST00000343742.2_Missense_Mutation_p.N992K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	992					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.N992K(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)				TTTCAGCAAATGAACTAAGAG	0.408																																					p.N992K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2976G	12						.						84.0	80.0	81.0					12																	40689326		2203	4300	6503	38975593	SO:0001583	missense	120892	exon23			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.2976T>G	12.37:g.40689326T>G	ENSP00000298910:p.Asn992Lys	Somatic		Capture	SOLID	Phase_I	38975593	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822252	0.71028	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.74421	-0.84;-0.84	5.71	0.774	0.18521	.	0.047997	0.85682	D	0.000000	D	0.89259	0.6664	H	0.97806	4.08	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87323	0.2319	10	0.62326	D	0.03	.	9.0011	0.36083	0.0:0.2869:0.0:0.7131	.	992;992	E9PC85;Q5S007	.;LRRK2_HUMAN	K	992	ENSP00000341930:N992K;ENSP00000298910:N992K	ENSP00000298910:N992K	N	+	3	2	LRRK2	38975593	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	0.950000	0.29122	-0.086000	0.12550	0.482000	0.46254	AAT		0.408	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
ARID2	196528	hgsc.bcm.edu	37	12	46205251	46205251	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:46205251A>C	ENST00000334344.6	+	4	507	c.335A>C	c.(334-336)gAg>gCg	p.E112A	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	112					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.E112A(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GATGATGATGAGGTACCACCA	0.388			"""N, S, F"""		hepatocellular carcinoma																																p.E112A			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A335C	12						.						124.0	108.0	114.0					12																	46205251		2203	4300	6503	44491518	SO:0001583	missense	196528	exon4				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.335A>C	12.37:g.46205251A>C	ENSP00000335044:p.Glu112Ala	Somatic		Capture	SOLID	Phase_I	44491518	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.652924	0.88056	.	.	ENSG00000189079	ENST00000334344	T	0.63417	-0.04	5.74	5.74	0.90152	ARID/BRIGHT DNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.74596	0.3737	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.73052	-0.4104	10	0.36615	T	0.2	-11.1094	16.0848	0.81038	1.0:0.0:0.0:0.0	.	112	Q68CP9	ARID2_HUMAN	A	112	ENSP00000335044:E112A	ENSP00000335044:E112A	E	+	2	0	ARID2	44491518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.958000	0.93099	2.205000	0.71048	0.449000	0.29647	GAG		0.388	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
HDAC7	51564	hgsc.bcm.edu	37	12	48190052	48190052	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:48190052C>T	ENST00000427332.2	-	8	772	c.616G>A	c.(616-618)Gca>Aca	p.A206T	HDAC7_ENST00000354334.3_Missense_Mutation_p.A245T|HDAC7_ENST00000080059.7_Missense_Mutation_p.A245T|HDAC7_ENST00000552960.1_Missense_Mutation_p.A228T|HDAC7_ENST00000380610.4_Missense_Mutation_p.A262T			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	206	Transcription repression 1. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|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)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.A206T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CACCCTGATGCGGGCGTGCTG	0.657																																					p.A245T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G733A	12						.						41.0	44.0	43.0					12																	48190052		2203	4300	6503	46476319	SO:0001583	missense	51564	exon8			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.616G>A	12.37:g.48190052C>T	ENSP00000404394:p.Ala206Thr	Somatic		Capture	SOLID	Phase_I	46476319	NM_001098416	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37		.	.	.	.	.	.	.	.	.	.	C	15.36	2.811076	0.50421	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332;ENST00000430670	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	4.33	3.43	0.39272	.	0.613682	0.16652	N	0.205180	T	0.26376	0.0644	N	0.14661	0.345	0.09310	N	1	D;D;P	0.54047	0.964;0.964;0.926	B;B;B	0.39805	0.31;0.31;0.242	T	0.06041	-1.0849	10	0.14656	T	0.56	.	11.0631	0.47959	0.0:0.9072:0.0:0.0928	.	245;228;245	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	T	245;245;228;262;206;221	ENSP00000080059:A245T;ENSP00000351326:A245T;ENSP00000448532:A228T;ENSP00000369984:A262T;ENSP00000404394:A206T;ENSP00000396159:A221T	ENSP00000080059:A245T	A	-	1	0	HDAC7	46476319	0.106000	0.21978	0.009000	0.14445	0.832000	0.47134	2.943000	0.49026	1.162000	0.42619	0.561000	0.74099	GCA		0.657	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2		
SPATS2	65244	hgsc.bcm.edu	37	12	49919989	49919989	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:49919989T>C	ENST00000553127.1	+	15	2102	c.1589T>C	c.(1588-1590)cTc>cCc	p.L530P	SPATS2_ENST00000321898.6_Missense_Mutation_p.L530P|SPATS2_ENST00000552918.1_Missense_Mutation_p.L530P			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	530						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L530P(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AAAAAGGGGCTCCCCCAGCGC	0.527																																					p.L530P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1589C	12						.						57.0	57.0	57.0					12																	49919989		2203	4300	6503	48206256	SO:0001583	missense	65244	exon14			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.1589T>C	12.37:g.49919989T>C	ENSP00000448228:p.Leu530Pro	Somatic		Capture	SOLID	Phase_I	48206256	NM_023071	A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330338	0.60743	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65721	-0.6099	9	0.49607	T	0.09	-8.5968	12.4832	0.55856	0.0:0.0:0.0:1.0	.	530	Q86XZ4	SPAS2_HUMAN	P	530	.	ENSP00000326841:L530P	L	+	2	0	SPATS2	48206256	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	4.686000	0.61700	2.129000	0.65627	0.477000	0.44152	CTC		0.527	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071	
CELA1	1990	hgsc.bcm.edu	37	12	51722372	51722372	+	Missense_Mutation	SNP	C	C	T	rs141584534		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:51722372C>T	ENST00000293636.1	-	8	806	c.766G>A	c.(766-768)Gcc>Acc	p.A256T		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	256	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.A256T(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CAGTTGGAGGCGATGACCTGA	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21992	0.0		0.0	False		,,,				2504	0.0				p.A256T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G766A	12						.	C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	221.0	164.0	183.0		766	4.3	1.0	12	dbSNP_134	183	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CELA1	NM_001971.5	58	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	256/259	51722372	3,13003	2203	4300	6503	50008639	SO:0001583	missense	1990	exon8				CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.766G>A	12.37:g.51722372C>T	ENSP00000293636:p.Ala256Thr	Somatic		Capture	SOLID	Phase_I	50008639	NM_001971	Q5MLF0|Q6DJT0|Q6ISM6	Missense_Mutation	SNP	ENST00000293636.1	37	CCDS8812.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.01	3.000019	0.54147	4.54E-4	1.16E-4	ENSG00000139610	ENST00000293636	D	0.93076	-3.16	4.31	4.31	0.51392	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.445102	0.20471	N	0.091695	D	0.87095	0.6092	L	0.33339	1.005	0.37152	D	0.902199	B	0.33379	0.41	B	0.17433	0.018	D	0.88251	0.2916	10	0.48119	T	0.1	-28.124	12.6005	0.56494	0.0:1.0:0.0:0.0	.	256	Q9UNI1	CELA1_HUMAN	T	256	ENSP00000293636:A256T	ENSP00000293636:A256T	A	-	1	0	CELA1	50008639	0.998000	0.40836	0.967000	0.41034	0.406000	0.30931	3.161000	0.50747	2.687000	0.91594	0.563000	0.77884	GCC		0.438	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971	
ITGB7	3695	hgsc.bcm.edu	37	12	53586224	53586224	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:53586224A>G	ENST00000267082.5	-	14	2276	c.2045T>C	c.(2044-2046)aTc>aCc	p.I682T	ITGB7_ENST00000422257.3_Missense_Mutation_p.I682T|ITGB7_ENST00000338737.4_Missense_Mutation_p.I534T|ITGB7_ENST00000550743.2_Missense_Mutation_p.I534T	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	682					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.I682T(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCATCCAAGATAGGGGCCAA	0.587																																					p.I682T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2045C	12						.						129.0	117.0	121.0					12																	53586224		2203	4300	6503	51872491	SO:0001583	missense	3695	exon14				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2045T>C	12.37:g.53586224A>G	ENSP00000267082:p.Ile682Thr	Somatic		Capture	SOLID	Phase_I	51872491	NM_000889	Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	A	3.413	-0.119702	0.06838	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	D;D;D	0.89617	-1.53;-1.53;-2.54	4.83	-0.669	0.11388	Integrin beta subunit, tail (1);	1.094130	0.07081	N	0.837084	T	0.76779	0.4035	N	0.21448	0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57883	-0.7734	10	0.13853	T	0.58	.	3.0267	0.06094	0.4289:0.0:0.2625:0.3086	.	682	P26010	ITB7_HUMAN	T	682;682;534	ENSP00000408741:I682T;ENSP00000267082:I682T;ENSP00000345501:I534T	ENSP00000267082:I682T	I	-	2	0	ITGB7	51872491	0.000000	0.05858	0.011000	0.14972	0.864000	0.49448	0.151000	0.16283	-0.289000	0.09038	0.459000	0.35465	ATC		0.587	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2		
DCD	117159	hgsc.bcm.edu	37	12	55038980	55038980	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:55038980T>C	ENST00000293371.6	-	4	455	c.266A>G	c.(265-267)gAa>gGa	p.E89G	DCD_ENST00000456047.2_Missense_Mutation_p.E89G	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	89					defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)	p.E89G(1)		large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				TTCTAGATCTTCGACTGCATC	0.493																																					p.E89G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A266G	12						.						168.0	154.0	158.0					12																	55038980		2203	4300	6503	53325247	SO:0001583	missense	117159	exon4			AF144011	CCDS8884.1, CCDS73478.1	12q13.1	2008-08-04				ENSG00000161634			14669	protein-coding gene	gene with protein product	"""proteolysis inducing factor"", ""preproteolysin"", ""diffusible survival/evasion peptide"", ""survival promoting peptide"""	606634				11694882	Standard	XM_005268627		Approved	AIDD, PIF, DSEP, HCAP, DCD-1	uc001sgj.3	P81605	OTTHUMG00000169937	ENST00000293371.6:c.266A>G	12.37:g.55038980T>C	ENSP00000293371:p.Glu89Gly	Somatic		Capture	SOLID	Phase_I	53325247	NM_053283	A5JHP2|A5JHP3|P58461|Q53YJ2	Missense_Mutation	SNP	ENST00000293371.6	37	CCDS8884.1	.	.	.	.	.	.	.	.	.	.	T	3.911	-0.020095	0.07634	.	.	ENSG00000161634	ENST00000293371;ENST00000456047	.	.	.	2.31	2.31	0.28768	.	.	.	.	.	T	0.18509	0.0444	N	0.08118	0	0.09310	N	1	B;B	0.30889	0.299;0.299	B;B	0.30572	0.083;0.117	T	0.15065	-1.0450	8	0.62326	D	0.03	.	6.5565	0.22464	0.0:0.0:0.0:1.0	.	89;89	A5JHP3;P81605	.;DCD_HUMAN	G	89	.	ENSP00000293371:E89G	E	-	2	0	DCD	53325247	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.168000	0.09925	1.317000	0.45149	0.460000	0.39030	GAA		0.493	DCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406617.1	NM_053283	
DNAJC14	85406	hgsc.bcm.edu	37	12	56216253	56216253	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:56216253G>T	ENST00000357606.3	-	7	2091	c.1802C>A	c.(1801-1803)gCt>gAt	p.A601D	RP11-762I7.5_ENST00000546837.1_Silent_p.G230G|RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Missense_Mutation_p.A601D|DNAJC14_ENST00000317287.5_Missense_Mutation_p.A601D			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	601					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A601D(1)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTGGCATCCAGCCCACTCTAT	0.478											OREG0021910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A601D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1802A	12						.						89.0	92.0	91.0					12																	56216253		2203	4300	6503	54502520	SO:0001583	missense	85406	exon6			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.1802C>A	12.37:g.56216253G>T	ENSP00000350223:p.Ala601Asp	Somatic	1013	Capture	SOLID	Phase_I	54502520	NM_032364	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736313	0.89482	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287;ENST00000540330	T;T;T	0.39787	1.06;1.06;1.06	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.58977	0.2160	M	0.81112	2.525	0.80722	D	1	D;D	0.57257	0.979;0.979	P;P	0.50970	0.655;0.655	T	0.64558	-0.6379	10	0.87932	D	0	-8.9044	17.7778	0.88515	0.0:0.0:1.0:0.0	.	601;601	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	D	601;601;311;601;97	ENSP00000350223:A601D;ENSP00000316240:A601D;ENSP00000317500:A601D	ENSP00000316240:A601D	A	-	2	0	DNAJC14	54502520	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.062000	0.93920	2.882000	0.98803	0.655000	0.94253	GCT		0.478	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364	
PMEL	6490	hgsc.bcm.edu	37	12	56348059	56348059	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:56348059C>T	ENST00000548747.1	-	11	2587	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	PMEL_ENST00000548493.1_Missense_Mutation_p.R642H|PMEL_ENST00000550464.1_Missense_Mutation_p.R556H|PMEL_ENST00000552882.1_Missense_Mutation_p.R642H|PMEL_ENST00000550447.1_Missense_Mutation_p.R271H|PMEL_ENST00000536427.1_Missense_Mutation_p.R607H|PMEL_ENST00000360714.4_Missense_Mutation_p.R649H|PMEL_ENST00000539511.1_Missense_Mutation_p.R556H|PMEL_ENST00000449260.2_Missense_Mutation_p.R649H			P40967	PMEL_HUMAN	premelanosome protein	642					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)		p.R642H(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCAGAAGATGCGGGGTAGACG	0.527																																					p.R642H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1925A	12						.						138.0	122.0	127.0					12																	56348059		2203	4300	6503	54634326	SO:0001583	missense	6490	exon11			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1925G>A	12.37:g.56348059C>T	ENSP00000448828:p.Arg642His	Somatic		Capture	SOLID	Phase_I	54634326	NM_006928	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344463	0.41498	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000550447	T;T;T;T;T;T;T;T	0.12465	3.05;3.05;3.05;3.05;3.05;3.05;2.68;3.05	5.47	-6.16	0.02098	.	0.965180	0.08537	N	0.931194	T	0.07773	0.0195	N	0.22421	0.69	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.09377	0.003;0.004;0.002	T	0.39396	-0.9616	10	0.52906	T	0.07	0.1863	7.7633	0.28965	0.0:0.2367:0.2159:0.5474	.	556;649;642	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	H	649;642;556;642;642;649;607;556;271	ENSP00000402758:R649H;ENSP00000449690:R642H;ENSP00000450036:R556H;ENSP00000448828:R642H;ENSP00000447374:R642H;ENSP00000353940:R649H;ENSP00000438695:R607H;ENSP00000445005:R556H	ENSP00000353940:R649H	R	-	2	0	PMEL	54634326	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-1.172000	0.03112	-1.104000	0.03015	-0.254000	0.11334	CGC		0.527	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928	
LRP1	4035	hgsc.bcm.edu	37	12	57587051	57587051	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:57587051T>C	ENST00000243077.3	+	46	8114	c.7648T>C	c.(7648-7650)Tgc>Cgc	p.C2550R	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2550	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.C2550R(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGTCCCCCACTGCAAGGACAA	0.617																																					p.C2550R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7648C	12						.						95.0	80.0	85.0					12																	57587051		2203	4300	6503	55873318	SO:0001583	missense	4035	exon46			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7648T>C	12.37:g.57587051T>C	ENSP00000243077:p.Cys2550Arg	Somatic		Capture	SOLID	Phase_I	55873318	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476975	0.63849	.	.	ENSG00000123384	ENST00000243077	D	0.99939	-8.35	4.57	4.57	0.56435	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	H	0.98738	4.315	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.96057	0.9036	10	0.87932	D	0	.	13.0576	0.58990	0.0:0.0:0.0:1.0	.	2550	Q07954	LRP1_HUMAN	R	2550	ENSP00000243077:C2550R	ENSP00000243077:C2550R	C	+	1	0	LRP1	55873318	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.833000	0.86765	1.931000	0.55961	0.533000	0.62120	TGC		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
R3HDM2	22864	hgsc.bcm.edu	37	12	57662723	57662723	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:57662723A>G	ENST00000347140.3	-	17	2205	c.1815T>C	c.(1813-1815)acT>acC	p.T605T	RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Silent_p.T619T|R3HDM2_ENST00000441731.2_Silent_p.T300T|R3HDM2_ENST00000403821.2_Silent_p.T639T|R3HDM2_ENST00000413953.2_Silent_p.T332T|R3HDM2_ENST00000358907.2_Silent_p.T605T|R3HDM2_ENST00000546843.1_5'Flank			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	605	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T605T(1)|p.T266T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AAGGCAGTGGAGTGTACTGAA	0.572																																					p.T605T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1815C	12						.						111.0	103.0	106.0					12																	57662723		2203	4300	6503	55948990	SO:0001819	synonymous_variant	22864	exon15			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1815T>C	12.37:g.57662723A>G		Somatic		Capture	SOLID	Phase_I	55948990	NM_014925	Q2M1T9|Q3ZCT5	Silent	SNP	ENST00000347140.3	37	CCDS8937.2																																																																																				0.572	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925	
CYP27B1	1594	hgsc.bcm.edu	37	12	58158869	58158869	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:58158869G>A	ENST00000228606.4	-	4	924	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	239					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.P239S(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	AGCCAGTGGGGCATCGCCATG	0.637											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P239S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C715T	12						.						57.0	54.0	55.0					12																	58158869		2203	4300	6503	56445136	SO:0001583	missense	1594	exon4			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.715C>T	12.37:g.58158869G>A	ENSP00000228606:p.Pro239Ser	Somatic	1028	Capture	SOLID	Phase_I	56445136	NM_000785	B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564203	0.86335	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.69040	-0.37;2.69	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.81408	0.4816	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.83082	-0.0137	10	0.59425	D	0.04	.	16.9757	0.86312	0.0:0.0:1.0:0.0	.	239	O15528	CP27B_HUMAN	S	239;4	ENSP00000228606:P239S;ENSP00000449472:P4S	ENSP00000228606:P239S	P	-	1	0	CYP27B1	56445136	1.000000	0.71417	0.998000	0.56505	0.691000	0.40173	9.028000	0.93712	2.543000	0.85770	0.561000	0.74099	CCC		0.637	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785	
RAP1B	5908	hgsc.bcm.edu	37	12	69047922	69047922	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:69047922A>G	ENST00000250559.9	+	5	445	c.214A>G	c.(214-216)Atg>Gtg	p.M72V	RAP1B_ENST00000537460.1_Missense_Mutation_p.M72V|RAP1B_ENST00000540209.1_Missense_Mutation_p.M53V|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000542145.1_Intron|RAP1B_ENST00000539091.1_Missense_Mutation_p.M30V|RAP1B_ENST00000541216.1_Missense_Mutation_p.M72V|RAP1B_ENST00000450214.2_Missense_Mutation_p.M30V|RAP1B_ENST00000393436.5_Missense_Mutation_p.M72V|RAP1B_ENST00000378985.3_Missense_Mutation_p.M6V|RAP1B_ENST00000341355.5_Missense_Mutation_p.M72V|RAP1B_ENST00000543697.1_Missense_Mutation_p.M72V|RAP1B_ENST00000543393.1_Missense_Mutation_p.M6V	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	72					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.M72V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		GGATTTATACATGAAAAATGG	0.323																																					p.M72V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A214G	12						.						169.0	175.0	173.0					12																	69047922		2203	4299	6502	67334189	SO:0001583	missense	5908	exon5				CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.214A>G	12.37:g.69047922A>G	ENSP00000250559:p.Met72Val	Somatic		Capture	SOLID	Phase_I	67334189	NM_015646	B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	ENST00000250559.9	37	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045814	0.55110	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000541167;ENST00000538283;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000545270;ENST00000538980;ENST00000542018;ENST00000543393;ENST00000534899;ENST00000453560;ENST00000378985;ENST00000540209;ENST00000540781;ENST00000535492;ENST00000539091;ENST00000456697;ENST00000543697;ENST00000545720;ENST00000541216	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.11	5.11	0.69529	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	L	0.43701	1.375	0.80722	D	1	P;B;B	0.45634	0.863;0.022;0.002	P;B;B	0.50049	0.629;0.044;0.014	T	0.73672	-0.3909	9	.	.	.	.	15.6161	0.76769	1.0:0.0:0.0:0.0	.	30;53;72	B4DW74;B4DQI8;P61224	.;.;RAP1B_HUMAN	V	72;72;72;72;72;72;72;30;72;21;72;6;72;72;6;53;72;6;30;72;72;72;72	ENSP00000250559:M72V;ENSP00000377085:M72V;ENSP00000401095:M72V;ENSP00000445138:M72V;ENSP00000444786:M72V;ENSP00000441275:M72V;ENSP00000439966:M72V;ENSP00000399986:M30V;ENSP00000437415:M72V;ENSP00000444467:M21V;ENSP00000438088:M72V;ENSP00000445090:M6V;ENSP00000441952:M72V;ENSP00000444060:M72V;ENSP00000368270:M6V;ENSP00000446318:M53V;ENSP00000440466:M72V;ENSP00000443775:M6V;ENSP00000444830:M30V;ENSP00000440708:M72V;ENSP00000438311:M72V;ENSP00000443851:M72V	.	M	+	1	0	RAP1B	67334189	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.175000	0.77632	2.231000	0.72958	0.455000	0.32223	ATG		0.323	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942	
GLIPR1L2	144321	hgsc.bcm.edu	37	12	75816819	75816819	+	Intron	SNP	G	G	C	rs77365041	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:75816819G>C	ENST00000550916.1	+	4	717				GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.K240N|GLIPR1L2_ENST00000435775.1_Intron|GLIPR1L2_ENST00000441218.1_Intron|GLIPR1L2_ENST00000378692.3_Intron	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2							integral component of membrane (GO:0016021)		p.K240N(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						GATTGGACAAGAAAAATAAGC	0.308																																					p.K240N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G720C	12						.						111.0	113.0	112.0					12																	75816819		2203	4300	6503	74103086	SO:0001627	intron_variant	144321	exon4			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.670+50G>C	12.37:g.75816819G>C		Somatic		Capture	SOLID	Phase_I	74103086	NM_152436	Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	CCDS58258.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.275135	0.23307	.	.	ENSG00000180481	ENST00000320460	T	0.07908	3.15	4.84	-0.0729	0.13737	.	.	.	.	.	T	0.04092	0.0114	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.45293	-0.9271	7	.	.	.	.	2.9011	0.05706	0.2515:0.0:0.3537:0.3947	.	240	Q4G1C9-2	.	N	240	ENSP00000317385:K240N	.	K	+	3	2	GLIPR1L2	74103086	0.741000	0.28217	0.002000	0.10522	0.012000	0.07955	1.699000	0.37804	0.327000	0.23409	-0.188000	0.12872	AAG		0.308	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436	
KITLG	4254	hgsc.bcm.edu	37	12	88910247	88910247	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:88910247C>A	ENST00000228280.5	-	5	566	c.384G>T	c.(382-384)aaG>aaT	p.K128N	KITLG_ENST00000347404.5_Missense_Mutation_p.K128N|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000378535.4_5'UTR	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	128				K -> R (in Ref. 3; AAD22048 and 4; AAK92486). {ECO:0000305}.	cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)	p.K128N(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						GTTCTGGGCTCTTGAATGATT	0.338									Testicular Cancer, Familial Clustering of																												p.K128N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G384T	12						.						33.0	37.0	35.0					12																	88910247		2196	4289	6485	87434378	SO:0001583	missense	4254	exon5	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.384G>T	12.37:g.88910247C>A	ENSP00000228280:p.Lys128Asn	Somatic		Capture	SOLID	Phase_I	87434378	NM_003994	A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	ENST00000228280.5	37	CCDS31868.1	.	.	.	.	.	.	.	.	.	.	C	1.172	-0.640605	0.03557	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.66995	-0.24;-0.24	4.96	-0.594	0.11664	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.384409	0.32578	N	0.005904	T	0.51109	0.1655	L	0.54323	1.7	0.09310	N	1	B;B	0.16802	0.019;0.013	B;B	0.10450	0.003;0.005	T	0.37361	-0.9709	10	0.42905	T	0.14	-3.8672	2.0479	0.03564	0.1144:0.2385:0.3744:0.2727	.	128;128	P21583-2;P21583	.;SCF_HUMAN	N	93;128;128	ENSP00000228280:K128N;ENSP00000054216:K128N	ENSP00000228280:K128N	K	-	3	2	KITLG	87434378	0.544000	0.26441	0.006000	0.13384	0.240000	0.25518	0.150000	0.16263	-0.096000	0.12329	-0.218000	0.12543	AAG		0.338	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2	NM_003994	
USP44	84101	hgsc.bcm.edu	37	12	95927655	95927655	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:95927655A>G	ENST00000258499.3	-	2	666	c.378T>C	c.(376-378)ggT>ggC	p.G126G	USP44_ENST00000537435.2_Silent_p.G126G|USP44_ENST00000552440.1_Silent_p.G126G|USP44_ENST00000393091.2_Silent_p.G126G	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	126					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G126G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AAGAATCATCACCTGTACCCA	0.423																																					p.G126G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T378C	12						.						160.0	138.0	145.0					12																	95927655		2203	4300	6503	94451786	SO:0001819	synonymous_variant	84101	exon2			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.378T>C	12.37:g.95927655A>G		Somatic		Capture	SOLID	Phase_I	94451786	NM_001042403	B2RDW3	Silent	SNP	ENST00000258499.3	37	CCDS9053.1																																																																																				0.423	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147	
EP400	57634	hgsc.bcm.edu	37	12	132549335	132549335	+	Silent	SNP	G	G	A	rs150961883	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr12:132549335G>A	ENST00000333577.4	+	49	8674	c.8565G>A	c.(8563-8565)ccG>ccA	p.P2855P	EP400_ENST00000332482.4_Silent_p.P2782P|EP400_ENST00000389562.2_Silent_p.P2818P|EP400_ENST00000389561.2_Silent_p.P2819P|EP400_ENST00000330386.6_Silent_p.P2738P			Q96L91	EP400_HUMAN	E1A binding protein p400	2855					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)	p.P2818P(1)		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)		CGCAGCCGCCGCAGCAGCAGA	0.706													G|||	2	0.000399361	0.0	0.0	5008	,	,		12488	0.001		0.001	False		,,,				2504	0.0				p.P2818P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G8454A	12						.						20.0	30.0	27.0					12																	132549335		2197	4297	6494	131115288	SO:0001819	synonymous_variant	57634	exon48			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.8565G>A	12.37:g.132549335G>A		Somatic		Capture	SOLID	Phase_I	131115288	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.706	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
ATP10A	57194	hgsc.bcm.edu	37	15	25947188	25947188	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:25947188G>A	ENST00000356865.6	-	13	2746	c.2635C>T	c.(2635-2637)Cgt>Tgt	p.R879C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	879					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.R879C(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)		CCCGCTTGACGCAATTTAGAA	0.527																																					p.R879C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2635T	15						.						133.0	126.0	129.0					15																	25947188		2203	4300	6503	23498281	SO:0001583	missense	57194	exon13			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.2635C>T	15.37:g.25947188G>A	ENSP00000349325:p.Arg879Cys	Somatic		Capture	SOLID	Phase_I	23498281	NM_024490	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.266123	0.40095	.	.	ENSG00000206190	ENST00000356865	D	0.82893	-1.66	5.31	3.33	0.38152	HAD-like domain (2);	0.150102	0.64402	D	0.000020	D	0.87629	0.6225	M	0.93939	3.475	0.58432	D	0.999995	P	0.43231	0.801	P	0.45428	0.48	D	0.89463	0.3738	10	0.66056	D	0.02	-10.9171	9.7819	0.40653	0.0735:0.0:0.786:0.1406	.	879	O60312	AT10A_HUMAN	C	879	ENSP00000349325:R879C	ENSP00000349325:R879C	R	-	1	0	ATP10A	23498281	1.000000	0.71417	0.406000	0.26421	0.054000	0.15201	2.922000	0.48860	2.485000	0.83878	0.561000	0.74099	CGT		0.527	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
ZNF106	64397	hgsc.bcm.edu	37	15	42736438	42736438	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:42736438A>G	ENST00000263805.4	-	6	3640	c.3314T>C	c.(3313-3315)cTg>cCg	p.L1105P	ZNF106_ENST00000565611.1_Missense_Mutation_p.L290P|ZNF106_ENST00000565380.1_Missense_Mutation_p.L333P	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	1105					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.L1105P(1)									ATGGGTCCTCAGTGCACTCAT	0.378																																					p.L1105P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3314C	15						.						114.0	110.0	111.0					15																	42736438		2203	4299	6502	40523730	SO:0001583	missense	64397	exon6			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.3314T>C	15.37:g.42736438A>G	ENSP00000263805:p.Leu1105Pro	Somatic		Capture	SOLID	Phase_I	40523730	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.208603	0.79240	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.75704	-0.96	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000002	D	0.82935	0.5145	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.98;0.998;0.98	D	0.84792	0.0779	10	0.87932	D	0	-6.2081	13.0096	0.58724	1.0:0.0:0.0:0.0	.	333;1105;333	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	P	1105;333	ENSP00000263805:L1105P	ENSP00000263805:L1105P	L	-	2	0	ZFP106	40523730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.183000	0.89700	2.004000	0.58718	0.459000	0.35465	CTG		0.378	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473	
SPG11	80208	hgsc.bcm.edu	37	15	44876264	44876264	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:44876264A>G	ENST00000261866.7	-	30	5630	c.5614T>C	c.(5614-5616)Tgg>Cgg	p.W1872R	SPG11_ENST00000558319.1_Missense_Mutation_p.W1872R|SPG11_ENST00000427534.2_Missense_Mutation_p.W1872R|SPG11_ENST00000558253.1_5'Flank|SPG11_ENST00000535302.2_Missense_Mutation_p.W1872R	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1872					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.W1872R(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGCTCTTTCCAATCCAATCTA	0.413																																					p.W1872R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5614C	15						.						123.0	100.0	108.0					15																	44876264		2198	4298	6496	42663556	SO:0001583	missense	80208	exon30				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5614T>C	15.37:g.44876264A>G	ENSP00000261866:p.Trp1872Arg	Somatic		Capture	SOLID	Phase_I	42663556	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	6.454	0.451965	0.12283	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.75367	-0.93;-0.67;-0.67	5.62	-7.0	0.01599	.	1.478000	0.03516	N	0.220313	T	0.57844	0.2081	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.36480	-0.9746	10	0.36615	T	0.2	.	2.0541	0.03577	0.139:0.3921:0.2212:0.2477	.	1872;1872;1872;1872	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	R	1872	ENSP00000261866:W1872R;ENSP00000445278:W1872R;ENSP00000396110:W1872R	ENSP00000261866:W1872R	W	-	1	0	SPG11	42663556	0.000000	0.05858	0.004000	0.12327	0.944000	0.59088	-0.643000	0.05421	-0.813000	0.04357	0.460000	0.39030	TGG		0.413	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
SEMA6D	80031	hgsc.bcm.edu	37	15	48062870	48062870	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:48062870G>A	ENST00000316364.5	+	19	2549	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	SEMA6D_ENST00000358066.4_Missense_Mutation_p.A642T|SEMA6D_ENST00000389428.3_Missense_Mutation_p.A629T|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A661T|SEMA6D_ENST00000389433.2_Missense_Mutation_p.A685T|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A642T|SEMA6D_ENST00000536845.2_Missense_Mutation_p.A704T|SEMA6D_ENST00000354744.4_Missense_Mutation_p.A648T|SEMA6D_ENST00000537942.1_Missense_Mutation_p.A642T|SEMA6D_ENST00000558816.1_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	704					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A704T(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGCAGAGTCCGCCCAGTCATG	0.438																																					p.A629T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1885A	15						.						100.0	94.0	96.0					15																	48062870		2198	4297	6495	45850162	SO:0001583	missense	80031	exon17			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2110G>A	15.37:g.48062870G>A	ENSP00000324857:p.Ala704Thr	Somatic		Capture	SOLID	Phase_I	45850162	NM_153616	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090334	0.36855	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.17691	2.27;2.32;2.32;2.31;2.27;2.27;2.27;2.26	5.87	5.87	0.94306	.	0.201117	0.52532	D	0.000080	T	0.16769	0.0403	L	0.50333	1.59	0.80722	D	1	P;P;P;P	0.45827	0.867;0.867;0.791;0.867	B;B;B;B	0.37422	0.249;0.249;0.115;0.249	T	0.08186	-1.0734	10	0.07813	T	0.8	.	20.2013	0.98260	0.0:0.0:1.0:0.0	.	629;648;704;642	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	T	642;704;704;685;661;648;642;629	ENSP00000442040:A642T;ENSP00000446152:A704T;ENSP00000324857:A704T;ENSP00000374084:A685T;ENSP00000374083:A661T;ENSP00000346786:A648T;ENSP00000350770:A642T;ENSP00000374079:A629T	ENSP00000324857:A704T	A	+	1	0	SEMA6D	45850162	1.000000	0.71417	0.997000	0.53966	0.741000	0.42261	9.473000	0.97714	2.763000	0.94921	0.655000	0.94253	GCC		0.438	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
FBN1	2200	hgsc.bcm.edu	37	15	48760237	48760237	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:48760237A>G	ENST00000316623.5	-	38	5100	c.4645T>C	c.(4645-4647)Tgc>Cgc	p.C1549R		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1549	TB 6.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1549R(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCATTGCTGCAGGCTGTATCT	0.458																																					p.C1549R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4645C	15						.						120.0	117.0	118.0					15																	48760237		2198	4296	6494	46547529	SO:0001583	missense	2200	exon38			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4645T>C	15.37:g.48760237A>G	ENSP00000325527:p.Cys1549Arg	Somatic		Capture	SOLID	Phase_I	46547529	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130254	0.77549	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.99875	-7.4	5.14	5.14	0.70334	Matrix fibril-associated (3);TGF-beta binding (1);	0.043429	0.85682	D	0.000000	D	0.99894	0.9949	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.96193	0.9139	10	0.87932	D	0	.	14.7971	0.69886	1.0:0.0:0.0:0.0	.	1549	P35555	FBN1_HUMAN	R	1549;117;439	ENSP00000325527:C1549R	ENSP00000325527:C1549R	C	-	1	0	FBN1	46547529	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.139000	0.94554	2.169000	0.68431	0.528000	0.53228	TGC		0.458	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
CGNL1	84952	hgsc.bcm.edu	37	15	57810694	57810694	+	Splice_Site	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:57810694A>G	ENST00000281282.5	+	10	2792	c.2714A>G	c.(2713-2715)cAg>cGg	p.Q905R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	905						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.Q905R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAGGCTGCTCAGGTAAACACC	0.512																																					p.Q905R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2714G	15						.						98.0	77.0	84.0					15																	57810694		2192	4292	6484	55597986	SO:0001630	splice_region_variant	84952	exon10			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2715+1A>G	15.37:g.57810694A>G		Somatic		Capture	SOLID	Phase_I	55597986	NM_032866	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360736	0.41801	.	.	ENSG00000128849	ENST00000281282	T	0.79141	-1.24	5.33	4.17	0.49024	.	0.267411	0.26719	N	0.022844	T	0.69788	0.3150	L	0.43152	1.355	0.35972	D	0.835387	B	0.15719	0.014	B	0.17098	0.017	T	0.69161	-0.5218	10	0.39692	T	0.17	-24.7204	11.5167	0.50526	0.9291:0.0:0.0709:0.0	.	905	Q0VF96	CGNL1_HUMAN	R	905	ENSP00000281282:Q905R	ENSP00000281282:Q905R	Q	+	2	0	CGNL1	55597986	1.000000	0.71417	0.973000	0.42090	0.601000	0.36947	5.180000	0.65048	0.994000	0.38892	0.533000	0.62120	CAG		0.512	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866	Missense_Mutation
TLN2	83660	hgsc.bcm.edu	37	15	62990968	62990968	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:62990968G>A	ENST00000561311.1	+	15	1719	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T	TLN2_ENST00000306829.6_Missense_Mutation_p.A497T			Q9Y4G6	TLN2_HUMAN	talin 2	497					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A497T(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCCCAGCAGGCCCTGATGGG	0.557																																					p.A497T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1489A	15						.						74.0	64.0	68.0					15																	62990968		2203	4300	6503	60778260	SO:0001583	missense	83660	exon13			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1489G>A	15.37:g.62990968G>A	ENSP00000453508:p.Ala497Thr	Somatic		Capture	SOLID	Phase_I	60778260	NM_015059	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149893	0.94645	.	.	ENSG00000171914	ENST00000306829	T	0.74526	-0.85	5.02	5.02	0.67125	Talin, central (3);	0.094547	0.64402	D	0.000001	T	0.79811	0.4510	M	0.76170	2.325	0.80722	D	1	B	0.23058	0.079	B	0.36244	0.22	T	0.77621	-0.2519	10	0.49607	T	0.09	-19.0665	18.8925	0.92410	0.0:0.0:1.0:0.0	.	497	Q9Y4G6	TLN2_HUMAN	T	497	ENSP00000303476:A497T	ENSP00000303476:A497T	A	+	1	0	TLN2	60778260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.767000	0.95098	0.655000	0.94253	GCC		0.557	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
ZNF609	23060	hgsc.bcm.edu	37	15	64966149	64966149	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:64966149C>T	ENST00000326648.3	+	4	1224	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	ZNF609_ENST00000559364.1_3'UTR|RNU6-549P_ENST00000384433.1_RNA	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	366						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R366C(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						CCTGGAAATGCGCAATGGCCG	0.478																																					p.R366C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1096T	15						.						64.0	69.0	68.0					15																	64966149		2203	4299	6502	62753202	SO:0001583	missense	23060	exon4			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.1096C>T	15.37:g.64966149C>T	ENSP00000316527:p.Arg366Cys	Somatic		Capture	SOLID	Phase_I	62753202	NM_015042	Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471387	0.63737	.	.	ENSG00000180357	ENST00000326648	T	0.57595	0.39	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78254	-0.2275	10	0.72032	D	0.01	-7.2471	19.534	0.95242	0.0:1.0:0.0:0.0	.	366	O15014	ZN609_HUMAN	C	366	ENSP00000316527:R366C	ENSP00000316527:R366C	R	+	1	0	ZNF609	62753202	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.893000	0.63199	2.613000	0.88420	0.655000	0.94253	CGC		0.478	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833	
RBPMS2	348093	hgsc.bcm.edu	37	15	65041300	65041300	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:65041300G>A	ENST00000300069.4	-	5	584	c.317C>T	c.(316-318)gCc>gTc	p.A106V	RBPMS2_ENST00000560606.1_5'UTR	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	106	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)	p.A106V(1)		breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						GTTGGCTTTGGCAAACTCTAG	0.537																																					p.A106V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C317T	15						.						183.0	160.0	168.0					15																	65041300		2202	4299	6501	62828353	SO:0001583	missense	348093	exon5			AY369207	CCDS32271.1	15q22.31	2014-05-15			ENSG00000166831	ENSG00000166831		"""RNA binding motif (RRM) containing"""	19098	protein-coding gene	gene with protein product							Standard	NM_194272		Approved		uc002anq.3	Q6ZRY4	OTTHUMG00000172423	ENST00000300069.4:c.317C>T	15.37:g.65041300G>A	ENSP00000300069:p.Ala106Val	Somatic		Capture	SOLID	Phase_I	62828353	NM_194272	A2RRG0	Missense_Mutation	SNP	ENST00000300069.4	37	CCDS32271.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999166	0.93227	.	.	ENSG00000166831	ENST00000300069	T	0.45668	0.89	5.08	4.16	0.48862	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.050377	0.85682	D	0.000000	T	0.77405	0.4125	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86564	0.1843	10	0.87932	D	0	5.7568	14.5701	0.68205	0.0:0.1473:0.8527:0.0	.	106	Q6ZRY4	RBPS2_HUMAN	V	106	ENSP00000300069:A106V	ENSP00000300069:A106V	A	-	2	0	RBPMS2	62828353	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.848000	0.99507	1.243000	0.43853	0.563000	0.77884	GCC		0.537	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418466.1		
KIF23	9493	hgsc.bcm.edu	37	15	69728060	69728060	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:69728060C>T	ENST00000260363.4	+	12	1339	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	KIF23_ENST00000559279.1_Missense_Mutation_p.R408W|KIF23_ENST00000537891.1_Missense_Mutation_p.R225W|KIF23_ENST00000558585.1_Missense_Mutation_p.R225W|KIF23_ENST00000352331.4_Missense_Mutation_p.R408W|KIF23_ENST00000395392.2_Missense_Mutation_p.R408W	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	408	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.R408W(1)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AGGAAAAGTGCGGATGATCGT	0.368																																					p.R408W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1222T	15						.						154.0	155.0	154.0					15																	69728060		2199	4298	6497	67515114	SO:0001583	missense	9493	exon12			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1222C>T	15.37:g.69728060C>T	ENSP00000260363:p.Arg408Trp	Somatic		Capture	SOLID	Phase_I	67515114	NM_004856	Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810003	0.70797	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	4.99	4.99	0.66335	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.83751	0.5322	L	0.53780	1.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.997;1.0	D	0.85003	0.0901	10	0.62326	D	0.03	.	17.6261	0.88095	0.0:1.0:0.0:0.0	.	225;408;408	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	W	408;408;408;225	ENSP00000260363:R408W;ENSP00000304978:R408W;ENSP00000378790:R408W;ENSP00000442969:R225W	ENSP00000260363:R408W	R	+	1	2	KIF23	67515114	0.999000	0.42202	0.511000	0.27724	0.625000	0.37756	4.428000	0.59894	2.465000	0.83290	0.467000	0.42956	CGG		0.368	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
MYO9A	4649	hgsc.bcm.edu	37	15	72170535	72170535	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:72170535T>C	ENST00000356056.5	-	31	6249	c.5777A>G	c.(5776-5778)tAt>tGt	p.Y1926C	MYO9A_ENST00000564571.1_Missense_Mutation_p.Y1926C|MYO9A_ENST00000444904.1_Missense_Mutation_p.Y1907C|MYO9A_ENST00000424560.1_Missense_Mutation_p.Y1997C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1926	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.Y1926C(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAATAGTGCATAGAGGTCTTT	0.373																																					p.Y1926C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5777G	15						.						75.0	73.0	74.0					15																	72170535		2199	4297	6496	69957589	SO:0001583	missense	4649	exon31			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5777A>G	15.37:g.72170535T>C	ENSP00000348349:p.Tyr1926Cys	Somatic		Capture	SOLID	Phase_I	69957589	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695786	0.68386	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.13538	2.58;2.58;2.58	5.21	5.21	0.72293	.	.	.	.	.	T	0.29190	0.0726	L	0.50333	1.59	0.42632	D	0.993384	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.01940	-1.1243	9	0.66056	D	0.02	.	9.8499	0.41051	0.0:0.0772:0.0:0.9228	.	1997;1926	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	C	1926;1997;1907	ENSP00000348349:Y1926C;ENSP00000399162:Y1997C;ENSP00000398250:Y1907C	ENSP00000348349:Y1926C	Y	-	2	0	MYO9A	69957589	0.998000	0.40836	0.995000	0.50966	0.991000	0.79684	5.905000	0.69893	2.075000	0.62263	0.482000	0.46254	TAT		0.373	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
MYO9A	4649	hgsc.bcm.edu	37	15	72192158	72192158	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:72192158G>A	ENST00000356056.5	-	24	3812	c.3340C>T	c.(3340-3342)Cgc>Tgc	p.R1114C	MYO9A_ENST00000564571.1_Missense_Mutation_p.R1114C|MYO9A_ENST00000444904.1_Missense_Mutation_p.R1095C|MYO9A_ENST00000566885.1_Missense_Mutation_p.R734C|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.R1114C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1114	Neck or regulatory domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.R1114C(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATGTGCCTGCGCCTATAGTAA	0.463																																					p.R1114C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3340T	15						.						84.0	78.0	80.0					15																	72192158		2199	4297	6496	69979212	SO:0001583	missense	4649	exon24			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3340C>T	15.37:g.72192158G>A	ENSP00000348349:p.Arg1114Cys	Somatic		Capture	SOLID	Phase_I	69979212	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	9.164	1.019356	0.19355	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	T;T;T	0.77620	-1.09;-1.11;-0.71	5.66	2.66	0.31614	.	.	.	.	.	T	0.76054	0.3934	M	0.80847	2.515	0.28707	N	0.903744	B;B;B	0.21309	0.011;0.054;0.003	B;B;B	0.20184	0.014;0.028;0.003	T	0.69910	-0.5017	9	0.66056	D	0.02	.	6.6172	0.22782	0.1337:0.0:0.6125:0.2537	.	1095;1095;1114	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	C	1114;1114;1095;1095	ENSP00000348349:R1114C;ENSP00000399162:R1114C;ENSP00000398250:R1095C	ENSP00000261864:R1095C	R	-	1	0	MYO9A	69979212	0.004000	0.15560	0.431000	0.26735	0.088000	0.18126	1.458000	0.35223	0.377000	0.24735	0.655000	0.94253	CGC		0.463	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
ACSBG1	23205	hgsc.bcm.edu	37	15	78466769	78466769	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:78466769A>G	ENST00000258873.4	-	12	2005	c.1800T>C	c.(1798-1800)atT>atC	p.I600I	ACSBG1_ENST00000541759.1_Silent_p.I358I|ACSBG1_ENST00000560817.1_Silent_p.I358I	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	600					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.I600I(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCTGGTCCCCAATGAGCATGG	0.587																																					p.I596I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1788C	15						.						117.0	97.0	104.0					15																	78466769		2196	4293	6489	76253824	SO:0001819	synonymous_variant	23205	exon12			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1800T>C	15.37:g.78466769A>G		Somatic		Capture	SOLID	Phase_I	76253824	NM_001199377	B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	CCDS10298.1																																																																																				0.587	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162	
RASGRF1	5923	hgsc.bcm.edu	37	15	79382767	79382767	+	Missense_Mutation	SNP	C	C	T	rs377356891		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:79382767C>T	ENST00000419573.3	-	1	348	c.74G>A	c.(73-75)cGc>cAc	p.R25H	RASGRF1_ENST00000558480.2_Missense_Mutation_p.R25H	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	25	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R25H(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTAGCCTTTGCGCGTGCCGTC	0.612																																					p.R25H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G74A	15						.	C	HIS/ARG,HIS/ARG	1,4391		0,1,2195	192.0	155.0	167.0		74,74	3.1	1.0	15		167	0,8586		0,0,4293	no	missense,missense	RASGRF1	NM_001145648.1,NM_002891.4	29,29	0,1,6488	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging	25/1258,25/1274	79382767	1,12977	2196	4293	6489	77169822	SO:0001583	missense	5923	exon1			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.74G>A	15.37:g.79382767C>T	ENSP00000405963:p.Arg25His	Somatic		Capture	SOLID	Phase_I	77169822	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	.	18.74	3.688296	0.68271	2.28E-4	0.0	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.12465	2.68	4.03	3.08	0.35506	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.075581	0.47093	D	0.000242	T	0.15652	0.0377	N	0.19112	0.55	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.989	P;D;P	0.63488	0.891;0.915;0.729	T	0.07309	-1.0779	10	0.46703	T	0.11	.	4.626	0.12479	0.22:0.6677:0.0:0.1123	.	25;25;25	Q8IUU5;Q13972;F8VPA5	.;RGRF1_HUMAN;.	H	25	ENSP00000405963:R25H	ENSP00000378224:R25H	R	-	2	0	RASGRF1	77169822	0.997000	0.39634	1.000000	0.80357	0.894000	0.52154	4.129000	0.57957	0.871000	0.35750	0.313000	0.20887	CGC		0.612	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
MRPS11	64963	hgsc.bcm.edu	37	15	89018438	89018438	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:89018438G>A	ENST00000325844.4	+	4	644	c.379G>A	c.(379-381)Gca>Aca	p.A127T	MRPS11_ENST00000557974.1_3'UTR|MRPS11_ENST00000353598.6_Missense_Mutation_p.A94T	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	127					DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A127T(1)		large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CACAGGCATCGCAGCACAGAC	0.542																																					p.A127T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G379A	15						.						136.0	113.0	121.0					15																	89018438		2201	4299	6500	86819442	SO:0001583	missense	64963	exon4			AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"""Mitochondrial ribosomal proteins / small subunits"""	14050	protein-coding gene	gene with protein product	"""cervical cancer proto-oncogene 2"""	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.379G>A	15.37:g.89018438G>A	ENSP00000317376:p.Ala127Thr	Somatic		Capture	SOLID	Phase_I	86819442	NM_022839	B2RD52|Q969D7|Q96GI3|Q9BYC3	Missense_Mutation	SNP	ENST00000325844.4	37	CCDS10342.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292206	0.59976	.	.	ENSG00000181991	ENST00000325844;ENST00000353598	T;T	0.69040	-0.37;0.08	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.86243	0.5886	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.969;0.999;0.989	D	0.89586	0.3824	10	0.87932	D	0	-14.2884	17.5392	0.87842	0.0:0.0:1.0:0.0	.	126;94;127	P82912-2;P82912-3;P82912	.;.;RT11_HUMAN	T	127;94	ENSP00000317376:A127T;ENSP00000318054:A94T	ENSP00000317376:A127T	A	+	1	0	MRPS11	86819442	1.000000	0.71417	0.699000	0.30290	0.988000	0.76386	8.166000	0.89665	2.479000	0.83701	0.655000	0.94253	GCA		0.542	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309067.2	NM_022839	
IQGAP1	8826	hgsc.bcm.edu	37	15	91017348	91017348	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:91017348A>G	ENST00000268182.5	+	22	2682	c.2558A>G	c.(2557-2559)gAt>gGt	p.D853G	IQGAP1_ENST00000560738.1_Missense_Mutation_p.D281G	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	853	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.D853G(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAGCTCGGGATGACTACAAG	0.428																																					p.D853G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2558G	15						.						56.0	55.0	55.0					15																	91017348		2198	4298	6496	88818352	SO:0001583	missense	8826	exon22			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2558A>G	15.37:g.91017348A>G	ENSP00000268182:p.Asp853Gly	Somatic		Capture	SOLID	Phase_I	88818352	NM_003870	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.333070	0.41297	.	.	ENSG00000140575	ENST00000268182	T	0.02216	4.39	5.49	5.49	0.81192	.	0.120539	0.56097	D	0.000040	T	0.03263	0.0095	L	0.41124	1.26	0.58432	D	0.999995	B	0.06786	0.001	B	0.15052	0.012	T	0.49204	-0.8964	10	0.51188	T	0.08	-29.1149	15.0649	0.71986	1.0:0.0:0.0:0.0	.	853	P46940	IQGA1_HUMAN	G	853	ENSP00000268182:D853G	ENSP00000268182:D853G	D	+	2	0	IQGAP1	88818352	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.264000	0.78432	2.218000	0.71995	0.533000	0.62120	GAT		0.428	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
IQGAP1	8826	hgsc.bcm.edu	37	15	91035795	91035795	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:91035795A>T	ENST00000268182.5	+	35	4604	c.4480A>T	c.(4480-4482)Agg>Tgg	p.R1494W	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R922W	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1494	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.R1494W(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GAATCAGCGGAGGTACCGACA	0.418																																					p.R1494W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4480T	15						.						80.0	75.0	77.0					15																	91035795		2198	4298	6496	88836799	SO:0001583	missense	8826	exon35			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4480A>T	15.37:g.91035795A>T	ENSP00000268182:p.Arg1494Trp	Somatic		Capture	SOLID	Phase_I	88836799	NM_003870	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.376208	0.82682	.	.	ENSG00000140575	ENST00000268182	T	0.49432	0.78	6.07	-7.59	0.01308	RasGAP protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67878	0.2940	M	0.84219	2.685	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.971;0.991	T	0.77213	-0.2670	10	0.72032	D	0.01	-19.7599	23.3278	0.99982	0.1932:0.8068:0.0:0.0	.	115;1494	B4DNP4;P46940	.;IQGA1_HUMAN	W	1494	ENSP00000268182:R1494W	ENSP00000268182:R1494W	R	+	1	2	IQGAP1	88836799	0.979000	0.34478	0.965000	0.40720	0.867000	0.49689	0.304000	0.19228	-0.961000	0.03609	-1.195000	0.01675	AGG		0.418	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
CHD2	1106	hgsc.bcm.edu	37	15	93563463	93563463	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr15:93563463C>T	ENST00000394196.4	+	38	6196	c.5128C>T	c.(5128-5130)Cgg>Tgg	p.R1710W	CHD2_ENST00000557381.1_Missense_Mutation_p.R1710W	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1710					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.R1710W(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCGAGACCACCGGGGACACAG	0.522																																					p.R1710W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5128T	15						.						77.0	66.0	70.0					15																	93563463		2197	4298	6495	91364467	SO:0001583	missense	1106	exon38			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5128C>T	15.37:g.93563463C>T	ENSP00000377747:p.Arg1710Trp	Somatic		Capture	SOLID	Phase_I	91364467	NM_001271	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028682	0.75390	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.92299	-3.01;-2.98	5.47	3.45	0.39498	.	0.000000	0.28933	U	0.013678	D	0.93106	0.7805	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.93668	0.6987	10	0.72032	D	0.01	-21.518	14.1835	0.65590	0.3867:0.6133:0.0:0.0	.	1710;1710	O14647;O14647-2	CHD2_HUMAN;.	W	1710	ENSP00000377747:R1710W;ENSP00000451366:R1710W	ENSP00000377747:R1710W	R	+	1	2	CHD2	91364467	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	0.360000	0.20250	1.268000	0.44264	0.561000	0.74099	CGG		0.522	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	
ADH4	127	hgsc.bcm.edu	37	4	100048387	100048387	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:100048387G>A	ENST00000265512.7	-	7	1026	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	ADH4_ENST00000508393.1_Missense_Mutation_p.R337C|ADH4_ENST00000505590.1_Missense_Mutation_p.R337C|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Missense_Mutation_p.R337C	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	318			R -> H (in dbSNP:rs29001219). {ECO:0000269|Ref.4}.		alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.R318C(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		TTTATAGTACGGCCGATTATT	0.388																																					p.R318C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C952T	4						.						81.0	82.0	82.0					4																	100048387		2203	4300	6503	100267410	SO:0001583	missense	127	exon7			M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.952C>T	4.37:g.100048387G>A	ENSP00000265512:p.Arg318Cys	Somatic		Capture	SOLID	Phase_I	100267410	NM_000670	A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146430	0.57044	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	3.65	2.8	0.32819	Alcohol dehydrogenase, C-terminal (1);	0.220935	0.27214	U	0.020390	T	0.44973	0.1319	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.45425	-0.9262	10	0.87932	D	0	-2.5265	5.9637	0.19313	0.1023:0.0:0.7088:0.1889	.	337;318	P08319-2;P08319	.;ADH4_HUMAN	C	337;318;337;337	ENSP00000424630:R337C;ENSP00000265512:R318C;ENSP00000397939:R337C;ENSP00000425416:R337C	ENSP00000265512:R318C	R	-	1	0	ADH4	100267410	0.981000	0.34729	0.955000	0.39395	0.022000	0.10575	1.842000	0.39250	1.128000	0.42052	0.655000	0.94253	CGT		0.388	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670	
MTTP	4547	hgsc.bcm.edu	37	4	100528111	100528111	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:100528111T>C	ENST00000265517.5	+	11	1754	c.1551T>C	c.(1549-1551)acT>acC	p.T517T	MTTP_ENST00000457717.1_Silent_p.T517T|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.T544T			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	517	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.T517T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CTTTCATAACTGATGAGGTAA	0.428																																					p.T517T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1551C	4						.						34.0	34.0	34.0					4																	100528111		2203	4300	6503	100747134	SO:0001819	synonymous_variant	4547	exon12				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1551T>C	4.37:g.100528111T>C		Somatic		Capture	SOLID	Phase_I	100747134	NM_000253	A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	T	8.748	0.920676	0.17982	.	.	ENSG00000138823	ENST00000538053	.	.	.	5.36	-10.7	0.00240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.7541	1.0936	0.01668	0.2391:0.2795:0.2866:0.1948	.	.	.	.	R	517	.	.	X	+	1	0	MTTP	100747134	0.000000	0.05858	0.039000	0.18376	0.978000	0.69477	-0.503000	0.06383	-1.249000	0.02500	0.533000	0.62120	TGA		0.428	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		
BANK1	55024	hgsc.bcm.edu	37	4	102791688	102791688	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:102791688A>G	ENST00000322953.4	+	5	1064	c.790A>G	c.(790-792)Aat>Gat	p.N264D	BANK1_ENST00000428908.1_Missense_Mutation_p.N131D|BANK1_ENST00000444316.2_Missense_Mutation_p.N234D|BANK1_ENST00000504592.1_Missense_Mutation_p.N249D|BANK1_ENST00000508653.1_Missense_Mutation_p.N131D	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	264	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				B cell activation (GO:0042113)			p.N264D(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGTCCATGTCAATGTCTACTG	0.373																																					p.N264D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A790G	4						.						137.0	127.0	130.0					4																	102791688		2203	4300	6503	103010711	SO:0001583	missense	55024	exon5			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.790A>G	4.37:g.102791688A>G	ENSP00000320509:p.Asn264Asp	Somatic		Capture	SOLID	Phase_I	103010711	NM_017935	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	A	9.203	1.028985	0.19512	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.18810	2.89;2.88;2.19;2.19;2.89	5.63	-7.91	0.01165	DBB domain (1);	1.084050	0.07237	N	0.863542	T	0.13841	0.0335	L	0.40543	1.245	0.09310	N	1	B;B;B	0.14438	0.004;0.01;0.01	B;B;B	0.11329	0.006;0.006;0.006	T	0.29912	-0.9996	10	0.40728	T	0.16	.	7.5883	0.28006	0.2568:0.3571:0.3861:0.0	.	131;264;249	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	D	249;264;131;131;234	ENSP00000421443:N249D;ENSP00000320509:N264D;ENSP00000412748:N131D;ENSP00000422314:N131D;ENSP00000388817:N234D	ENSP00000320509:N264D	N	+	1	0	BANK1	103010711	0.032000	0.19561	0.000000	0.03702	0.054000	0.15201	-0.519000	0.06260	-1.799000	0.01248	-0.408000	0.06270	AAT		0.373	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	
MANBA	4126	hgsc.bcm.edu	37	4	103556039	103556039	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:103556039T>C	ENST00000226578.4	-	16	2420	c.2321A>G	c.(2320-2322)tAc>tGc	p.Y774C	MANBA_ENST00000505239.1_Missense_Mutation_p.Y717C	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	774					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.Y774C(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AGCTGAAAGGTAAAAGGAAAC	0.532																																					p.Y774C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2321G	4						.						99.0	85.0	90.0					4																	103556039		2203	4300	6503	103775087	SO:0001583	missense	4126	exon16				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.2321A>G	4.37:g.103556039T>C	ENSP00000226578:p.Tyr774Cys	Somatic		Capture	SOLID	Phase_I	103775087	NM_005908	Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.279860	0.23392	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.42513	0.97;0.97	5.45	-2.68	0.06041	.	0.632796	0.17432	N	0.174449	T	0.28962	0.0719	L	0.57536	1.79	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.10450	0.003;0.005	T	0.17198	-1.0377	10	0.38643	T	0.18	-1.5955	2.0472	0.03563	0.2853:0.0692:0.2873:0.3582	.	717;774	E9PFW2;O00462	.;MANBA_HUMAN	C	774;717	ENSP00000226578:Y774C;ENSP00000427322:Y717C	ENSP00000226578:Y774C	Y	-	2	0	MANBA	103775087	0.114000	0.22134	0.094000	0.20943	0.027000	0.11550	1.319000	0.33655	0.009000	0.14813	-0.333000	0.08304	TAC		0.532	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2		
ARHGEF38	54848	hgsc.bcm.edu	37	4	106534579	106534579	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:106534579T>C	ENST00000420470.2	+	3	567	c.423T>C	c.(421-423)atT>atC	p.I141I	ARHGEF38_ENST00000265154.2_Silent_p.I141I	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	141	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I141I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						TTAGCAACATTGAGTCCGTGC	0.438																																					p.I141I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T423C	4						.						199.0	180.0	186.0					4																	106534579		2203	4300	6503	106754028	SO:0001819	synonymous_variant	54848	exon3			AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"""Rho guanine nucleotide exchange factors"""	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.423T>C	4.37:g.106534579T>C		Somatic		Capture	SOLID	Phase_I	106754028	NM_017700	C9JIB4	Silent	SNP	ENST00000420470.2	37	CCDS56338.1																																																																																				0.438	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700	
ZGRF1	55345	hgsc.bcm.edu	37	4	113539511	113539511	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:113539511T>C	ENST00000505019.1	-	6	1812	c.1687A>G	c.(1687-1689)Att>Gtt	p.I563V	C4orf21_ENST00000309071.5_Missense_Mutation_p.I563V|C4orf21_ENST00000445203.2_Missense_Mutation_p.I532V	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		563						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.I563V(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTAACCAAAATGTCCTTTACC	0.378																																					p.I563V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1687G	4						.						111.0	109.0	110.0					4																	113539511		2203	4299	6502	113758960	SO:0001583	missense	55345	exon6																														ENST00000505019.1:c.1687A>G	4.37:g.113539511T>C	ENSP00000424737:p.Ile563Val	Somatic		Capture	SOLID	Phase_I	113758960	NM_018392	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37		.	.	.	.	.	.	.	.	.	.	T	6.121	0.390479	0.11581	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.83755	-1.76;1.75;1.34	5.34	-2.86	0.05717	.	0.569359	0.16595	N	0.207598	T	0.58524	0.2128	N	0.19112	0.55	0.09310	N	1	B;B	0.13594	0.002;0.008	B;B	0.08055	0.003;0.001	T	0.51348	-0.8717	10	0.02654	T	1	-1.936	4.0668	0.09864	0.1064:0.3985:0.1092:0.3859	.	563;563	Q86YA3;G5EA02	CD021_HUMAN;.	V	563;563;532	ENSP00000424737:I563V;ENSP00000309095:I563V;ENSP00000390505:I532V	ENSP00000309095:I563V	I	-	1	0	C4orf21	113758960	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.492000	0.06467	-0.391000	0.07763	-0.472000	0.04984	ATT		0.378	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		
ANK2	287	hgsc.bcm.edu	37	4	114158160	114158160	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:114158160A>G	ENST00000357077.4	+	6	554	c.501A>G	c.(499-501)ctA>ctG	p.L167L	ANK2_ENST00000506722.1_Silent_p.L146L|ANK2_ENST00000264366.6_Silent_p.L167L|ANK2_ENST00000394537.3_Silent_p.L167L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	167					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.L167L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTACTCCTCTAGCTGTGGCAC	0.463																																					p.L167L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A501G	4						.						121.0	119.0	120.0					4																	114158160		2203	4300	6503	114377609	SO:0001819	synonymous_variant	287	exon6			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.501A>G	4.37:g.114158160A>G		Somatic		Capture	SOLID	Phase_I	114377609	NM_020977	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1																																																																																				0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	hgsc.bcm.edu	37	4	114223965	114223965	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:114223965A>G	ENST00000357077.4	+	23	2571	c.2518A>G	c.(2518-2520)Act>Gct	p.T840A	ANK2_ENST00000506722.1_Missense_Mutation_p.T819A|ANK2_ENST00000509550.1_Missense_Mutation_p.T49A|ANK2_ENST00000264366.6_Missense_Mutation_p.T840A|ANK2_ENST00000394537.3_Missense_Mutation_p.T840A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	840					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T840A(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAGACGATGACTGAGGTTCT	0.333																																					p.T840A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2518G	4						.						127.0	127.0	127.0					4																	114223965		2203	4300	6503	114443414	SO:0001583	missense	287	exon23			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2518A>G	4.37:g.114223965A>G	ENSP00000349588:p.Thr840Ala	Somatic		Capture	SOLID	Phase_I	114443414	NM_020977	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779286	0.70107	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.75589	-0.06;0.03;-0.16;-0.06;-0.15;-0.19;-0.21;-0.95	4.87	4.87	0.63330	Ankyrin repeat-containing domain (1);	0.000000	0.48767	D	0.000180	T	0.79828	0.4513	L	0.60455	1.87	0.80722	D	1	P;P;B;P;P;P	0.47350	0.894;0.864;0.338;0.798;0.69;0.811	B;P;B;P;B;P	0.57960	0.437;0.452;0.373;0.539;0.384;0.83	T	0.75863	-0.3167	10	0.15952	T	0.53	.	14.4877	0.67629	1.0:0.0:0.0:0.0	.	49;840;840;840;819;819	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.	A	819;786;819;855;840;840;840;819;49	ENSP00000423799:T819A;ENSP00000421011:T786A;ENSP00000421067:T819A;ENSP00000424722:T855A;ENSP00000378044:T840A;ENSP00000349588:T840A;ENSP00000264366:T840A;ENSP00000426944:T49A	ENSP00000264366:T840A	T	+	1	0	ANK2	114443414	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.339000	0.96797	1.818000	0.53035	0.460000	0.39030	ACT		0.333	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
TRPC3	7222	hgsc.bcm.edu	37	4	122853922	122853922	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:122853922T>A	ENST00000379645.3	-	2	564	c.491A>T	c.(490-492)gAg>gTg	p.E164V	TRPC3_ENST00000513531.1_Missense_Mutation_p.E91V|TRPC3_ENST00000264811.5_Missense_Mutation_p.E91V	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	79					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.E91V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAGCAGCAGCTCGGTCACCTC	0.622																																					p.E91V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A272T	4						.						60.0	53.0	55.0					4																	122853922		2203	4300	6503	123073372	SO:0001583	missense	7222	exon1			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.491A>T	4.37:g.122853922T>A	ENSP00000368966:p.Glu164Val	Somatic		Capture	SOLID	Phase_I	123073372	NM_003305	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.556129	0.86231	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.19	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.83008	0.5161	M	0.82517	2.595	0.49389	D	0.999787	D;D	0.71674	0.997;0.998	D;D	0.75020	0.983;0.985	D	0.84996	0.0897	10	0.59425	D	0.04	-5.2415	16.4237	0.83790	0.0:0.0:0.0:1.0	.	91;164	E9PCJ9;Q5G1L5	.;.	V	91;164;91;91	ENSP00000264811:E91V;ENSP00000368966:E164V;ENSP00000426899:E91V;ENSP00000422214:E91V	ENSP00000264811:E91V	E	-	2	0	TRPC3	123073372	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.246000	0.72405	2.279000	0.76181	0.533000	0.62120	GAG		0.622	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305	
SPRY1	10252	hgsc.bcm.edu	37	4	124323323	124323323	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:124323323A>G	ENST00000394339.2	+	2	917	c.577A>G	c.(577-579)Act>Gct	p.T193A	SPRY1_ENST00000339241.1_Missense_Mutation_p.T193A	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	193	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.T193A(1)		NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						TGGAGAATGCACTGCTCCCAG	0.502																																					p.T193A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A577G	4						.						182.0	151.0	162.0					4																	124323323		2203	4300	6503	124542773	SO:0001583	missense	10252	exon2			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.577A>G	4.37:g.124323323A>G	ENSP00000377871:p.Thr193Ala	Somatic		Capture	SOLID	Phase_I	124542773	NM_005841	D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	A	16.01	2.999970	0.54147	.	.	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.56444	0.46;1.2;0.46	5.06	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	L	0.41236	1.265	0.58432	D	0.999994	D	0.63046	0.992	D	0.74348	0.983	T	0.56300	-0.8002	9	.	.	.	-13.5863	10.1973	0.43062	0.922:0.0:0.078:0.0	.	193	O43609	SPY1_HUMAN	A	193	ENSP00000343785:T193A;ENSP00000421036:T193A;ENSP00000377871:T193A	.	T	+	1	0	SPRY1	124542773	1.000000	0.71417	0.972000	0.41901	0.964000	0.63967	6.475000	0.73582	0.965000	0.38133	0.459000	0.35465	ACT		0.502	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1		
INTU	27152	hgsc.bcm.edu	37	4	128627683	128627683	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:128627683C>T	ENST00000335251.6	+	12	1933	c.1830C>T	c.(1828-1830)tgC>tgT	p.C610C	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	610					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)		p.C610C(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTGGAGGTTGCGCATCCAAAG	0.373																																					p.C610C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1830T	4						.						123.0	117.0	119.0					4																	128627683		2203	4300	6503	128847133	SO:0001819	synonymous_variant	27152	exon12			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1830C>T	4.37:g.128627683C>T		Somatic		Capture	SOLID	Phase_I	128847133	NM_015693	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Silent	SNP	ENST00000335251.6	37	CCDS34061.1																																																																																				0.373	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	
SCLT1	132320	hgsc.bcm.edu	37	4	129878222	129878222	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:129878222A>C	ENST00000281142.5	-	13	1608	c.1105T>G	c.(1105-1107)Tct>Gct	p.S369A	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	369					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.S369A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						ACAAACCGAGAAACTGTCTCT	0.279																																					p.S369A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1105G	4						.						115.0	112.0	113.0					4																	129878222		2202	4297	6499	130097672	SO:0001583	missense	132320	exon13			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1105T>G	4.37:g.129878222A>C	ENSP00000281142:p.Ser369Ala	Somatic		Capture	SOLID	Phase_I	130097672	NM_144643	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682326	0.47991	.	.	ENSG00000151466	ENST00000281142	T	0.10005	2.92	5.17	3.94	0.45596	.	0.422642	0.24713	N	0.036214	T	0.18882	0.0453	L	0.60455	1.87	0.09310	N	0.999999	D	0.58620	0.983	P	0.55391	0.775	T	0.06285	-1.0835	9	.	.	.	-0.1354	6.5383	0.22367	0.6829:0.1618:0.0:0.1553	.	369	Q96NL6	SCLT1_HUMAN	A	369	ENSP00000281142:S369A	.	S	-	1	0	SCLT1	130097672	0.993000	0.37304	0.005000	0.12908	0.155000	0.21991	3.050000	0.49877	0.755000	0.32990	0.528000	0.53228	TCT		0.279	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643	
PCDH18	54510	hgsc.bcm.edu	37	4	138451485	138451485	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:138451485T>C	ENST00000344876.4	-	1	2144	c.1758A>G	c.(1756-1758)gcA>gcG	p.A586A	PCDH18_ENST00000507846.1_Silent_p.A366A|PCDH18_ENST00000412923.2_Silent_p.A586A|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	586	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.A586A(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)					TGGTGATTTCTGCCGTATTAT	0.468																																					p.A586A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1758G	4						.						207.0	193.0	198.0					4																	138451485		2203	4300	6503	138670935	SO:0001819	synonymous_variant	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.1758A>G	4.37:g.138451485T>C		Somatic		Capture	SOLID	Phase_I	138670935	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	CCDS34064.1																																																																																				0.468	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
HHIP	64399	hgsc.bcm.edu	37	4	145580893	145580893	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:145580893T>C	ENST00000296575.3	+	4	1389	c.734T>C	c.(733-735)cTg>cCg	p.L245P	HHIP_ENST00000434550.2_Missense_Mutation_p.L245P|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	245					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.L245P(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTCTTCATTCTGGAAAAAGAA	0.458																																					p.L245P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T734C	4						.						114.0	122.0	119.0					4																	145580893		2203	4300	6503	145800343	SO:0001583	missense	64399	exon4			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.734T>C	4.37:g.145580893T>C	ENSP00000296575:p.Leu245Pro	Somatic		Capture	SOLID	Phase_I	145800343	NM_022475	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072828	0.76415	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.50277	2.57;0.75	5.78	5.78	0.91487	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.979	T	0.58115	-0.7693	10	0.37606	T	0.19	-11.098	16.101	0.81172	0.0:0.0:0.0:1.0	.	245;245	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	P	245	ENSP00000296575:L245P;ENSP00000408587:L245P	ENSP00000296575:L245P	L	+	2	0	HHIP	145800343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.208000	0.71279	0.454000	0.30748	CTG		0.458	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2		
FBXW7	55294	hgsc.bcm.edu	37	4	153245450	153245450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:153245450G>A	ENST00000281708.4	-	11	2970	c.1741C>T	c.(1741-1743)Cag>Tag	p.Q581*	FBXW7_ENST00000263981.5_Nonsense_Mutation_p.Q501*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.Q463*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Q581*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.Q405*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Q581*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	581					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.Q581*(2)|p.G579_Q581>E(1)|p.Q342*(1)|p.Q501*(1)|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)				GTTAACGACTGGTGCCCTGTT	0.418			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.Q501X			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	.	.	6	Substitution - Nonsense(4)|Unknown(1)|Complex - deletion inframe(1)	large_intestine(5)|haematopoietic_and_lymphoid_tissue(1)	c.C1501T	4						.						151.0	125.0	134.0					4																	153245450		2203	4300	6503	153464900	SO:0001587	stop_gained	55294	exon10			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.1741C>T	4.37:g.153245450G>A	ENSP00000281708:p.Gln581*	Somatic		Capture	SOLID	Phase_I	153464900	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112618	0.77210	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.405	19.838	0.96666	0.0:0.0:1.0:0.0	.	.	.	.	X	581;463;501;405	.	ENSP00000263981:Q501X	Q	-	1	0	FBXW7	153464900	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.692000	0.91855	0.650000	0.86243	CAG		0.418	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FGA	2243	hgsc.bcm.edu	37	4	155505372	155505372	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:155505372A>C	ENST00000302053.3	-	6	2583	c.2505T>G	c.(2503-2505)taT>taG	p.Y835*		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	835	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.Y835*(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTCAATCTCATAAGGACTGT	0.493																																					p.Y835X	NSCLC(143;340 1922 20892 22370 48145)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T2505G	4						.						111.0	117.0	115.0					4																	155505372		2203	4300	6503	155724822	SO:0001587	stop_gained	2243	exon6				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2505T>G	4.37:g.155505372A>C	ENSP00000306361:p.Tyr835*	Somatic		Capture	SOLID	Phase_I	155724822	NM_000508	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Nonsense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	37	6.310202	0.97462	.	.	ENSG00000171560	ENST00000302053	.	.	.	5.71	0.153	0.14897	.	0.309004	0.36234	N	0.002715	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0305	0.36256	0.6311:0.0:0.3689:0.0	.	.	.	.	X	835	.	ENSP00000306361:Y835X	Y	-	3	2	FGA	155724822	0.986000	0.35501	0.964000	0.40570	0.833000	0.47200	0.428000	0.21395	-0.191000	0.10448	0.454000	0.30748	TAT		0.493	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
CTSO	1519	hgsc.bcm.edu	37	4	156847192	156847192	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:156847192A>G	ENST00000433477.3	-	8	1031	c.962T>C	c.(961-963)gTg>gCg	p.V321A		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	0					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|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)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)	p.V321A(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		AACATGTCACACAAATATAGA	0.308																																					p.V321A	Pancreas(148;2303 2598 8989 35298)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T962C	4						.						91.0	85.0	87.0					4																	156847192		2203	4300	6503	157066642	SO:0001583	missense	1519	exon8			X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.962T>C	4.37:g.156847192A>G	ENSP00000414904:p.Val321Ala	Somatic		Capture	SOLID	Phase_I	157066642	NM_001334	Q6FHS6	Missense_Mutation	SNP	ENST00000433477.3	37	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325483	0.60743	.	.	ENSG00000256043	ENST00000433477	T	0.74526	-0.85	5.68	5.68	0.88126	.	0.065935	0.64402	D	0.000017	T	0.80031	0.4549	L	0.51422	1.61	0.44834	D	0.997849	D	0.63880	0.993	P	0.56163	0.793	T	0.82222	-0.0564	10	0.87932	D	0	.	16.2155	0.82211	1.0:0.0:0.0:0.0	.	321	P43234	CATO_HUMAN	A	321	ENSP00000414904:V321A	ENSP00000281527:V321A	V	-	2	0	CTSO	157066642	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	6.541000	0.73865	2.285000	0.76669	0.533000	0.62120	GTG		0.308	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334	
GRIA2	2891	hgsc.bcm.edu	37	4	158281198	158281198	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:158281198T>C	ENST00000264426.9	+	13	2473	c.2194T>C	c.(2194-2196)Tac>Cac	p.Y732H	GRIA2_ENST00000507898.1_Missense_Mutation_p.Y685H|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000296526.7_Missense_Mutation_p.Y732H|GRIA2_ENST00000449365.1_Missense_Mutation_p.Y685H|GRIA2_ENST00000393815.2_Missense_Mutation_p.Y685H	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	732					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	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)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.Y732H(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GATGAACGAGTACATTGAGCA	0.507																																					p.Y685H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2053C	4						.						151.0	136.0	141.0					4																	158281198		2203	4300	6503	158500648	SO:0001583	missense	2891	exon13				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2194T>C	4.37:g.158281198T>C	ENSP00000264426:p.Tyr732His	Somatic		Capture	SOLID	Phase_I	158500648	NM_001083620	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.64|17.64	3.439484|3.439484	0.63067|0.63067	.|.	.|.	ENSG00000120251|ENSG00000120251	ENST00000510854|ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000421983;ENST00000449365	.|T;T;T;T;T	.|0.43688	.|0.94;0.94;0.94;0.94;0.94	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Ionotropic glutamate receptor (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72104|0.72104	0.3419|0.3419	M|M	0.90922|0.90922	3.16|3.16	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;0.999	.|D;D;D;D;D	.|0.97110	.|1.0;0.996;0.999;0.999;0.996	T|T	0.79557|0.79557	-0.1754|-0.1754	5|10	.|0.87932	.|D	.|0	.|.	15.8067|15.8067	0.78520|0.78520	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|760;732;732;732;685	.|Q59F93;P42262-3;P42262;P42262-2;A8MT92	.|.;.;GRIA2_HUMAN;.;.	A|H	62|685;685;732;732;4;685	.|ENSP00000426845:Y685H;ENSP00000377403:Y685H;ENSP00000296526:Y732H;ENSP00000264426:Y732H;ENSP00000389837:Y685H	.|ENSP00000264426:Y732H	V|Y	+|+	2|1	0|0	GRIA2|GRIA2	158500648|158500648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	8.040000|8.040000	0.89188|0.89188	2.131000|2.131000	0.65755|0.65755	0.533000|0.533000	0.62120|0.62120	GTA|TAC		0.507	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
TMEM144	55314	hgsc.bcm.edu	37	4	159165477	159165477	+	Silent	SNP	T	T	C	rs560631647		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:159165477T>C	ENST00000296529.6	+	12	1450	c.930T>C	c.(928-930)ggT>ggC	p.G310G	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	310						integral component of membrane (GO:0016021)		p.G310G(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CAATGTGGGGTATCTTCATGT	0.363													T|||	1	0.000199681	0.0	0.0	5008	,	,		15037	0.001		0.0	False		,,,				2504	0.0				p.G310G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T930C	4						.						83.0	86.0	85.0					4																	159165477		2203	4300	6503	159384927	SO:0001819	synonymous_variant	55314	exon12			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.930T>C	4.37:g.159165477T>C		Somatic		Capture	SOLID	Phase_I	159384927	NM_018342	D3DP24|Q49A05|Q9NUT3	Silent	SNP	ENST00000296529.6	37	CCDS3799.1																																																																																				0.363	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342	
NCAPG	64151	hgsc.bcm.edu	37	4	17842267	17842267	+	Silent	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:17842267T>G	ENST00000251496.2	+	19	2981	c.2805T>G	c.(2803-2805)ggT>ggG	p.G935G		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	935					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G935G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CACTCAGGGGTGTAAAAGCAA	0.299																																					p.G935G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2805G	4						.						62.0	63.0	63.0					4																	17842267		2203	4299	6502	17451365	SO:0001819	synonymous_variant	64151	exon19			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2805T>G	4.37:g.17842267T>G		Somatic		Capture	SOLID	Phase_I	17451365	NM_022346	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000251496.2	37	CCDS3424.1																																																																																				0.299	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346	
MARCH1	55016	hgsc.bcm.edu	37	4	164507057	164507057	+	Silent	SNP	T	T	C	rs372074247		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:164507057T>C	ENST00000503008.1	-	6	1243	c.267A>G	c.(265-267)gaA>gaG	p.E89E	MARCH1_ENST00000274056.7_Silent_p.E89E|MARCH1_ENST00000514618.1_Silent_p.E345E|MARCH1_ENST00000339875.5_Silent_p.E72E	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	89					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E72E(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGGGGCTCTCTTCATCCCCTT	0.532																																					p.E72E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A216G	4						.	T	,	0,4406		0,0,2203	68.0	65.0	66.0		267,216	-1.8	1.0	4		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MARCH1	NM_001166373.1,NM_017923.3	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	89/290,72/273	164507057	1,13005	2203	4300	6503	164726507	SO:0001819	synonymous_variant	55016	exon2			AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.267A>G	4.37:g.164507057T>C		Somatic		Capture	SOLID	Phase_I	164726507	NM_017923	D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	CCDS54814.1																																																																																				0.532	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	
GPM6A	2823	hgsc.bcm.edu	37	4	176573057	176573057	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:176573057T>C	ENST00000280187.7	-	5	514	c.469A>G	c.(469-471)Aat>Gat	p.N157D	GPM6A_ENST00000506894.1_Missense_Mutation_p.N146D|GPM6A_ENST00000393658.2_Missense_Mutation_p.N157D|GPM6A_ENST00000515090.1_Missense_Mutation_p.N150D	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	157					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.N157D(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GTCCACAGATTGAAGTACATG	0.448																																					p.N157D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A469G	4						.						126.0	113.0	118.0					4																	176573057		2203	4300	6503	176810051	SO:0001583	missense	2823	exon4				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.469A>G	4.37:g.176573057T>C	ENSP00000280187:p.Asn157Asp	Somatic		Capture	SOLID	Phase_I	176810051	NM_201591	B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.047866	0.93740	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754;ENST00000507520;ENST00000513667	D;D;D;D;D;D;D;D;D	0.99277	-5.67;-5.67;-5.67;-5.67;-5.67;-5.67;-5.67;-5.67;-5.67	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.99336	0.9767	M	0.78456	2.415	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.995;0.995	D	0.99243	1.0885	10	0.56958	D	0.05	-6.8971	16.1485	0.81594	0.0:0.0:0.0:1.0	.	150;146;157	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	D	157;157;146;150;149;94;94;94;94	ENSP00000280187:N157D;ENSP00000377268:N157D;ENSP00000421578:N146D;ENSP00000423984:N150D;ENSP00000422959:N149D;ENSP00000426984:N94D;ENSP00000426821:N94D;ENSP00000424075:N94D;ENSP00000421373:N94D	ENSP00000280187:N157D	N	-	1	0	GPM6A	176810051	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.628000	0.83189	2.281000	0.76405	0.533000	0.62120	AAT		0.448	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1		
WHSC1	7468	hgsc.bcm.edu	37	4	1902929	1902929	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:1902929T>G	ENST00000382895.3	+	4	979	c.548T>G	c.(547-549)cTt>cGt	p.L183R	WHSC1_ENST00000514045.1_Missense_Mutation_p.L183R|WHSC1_ENST00000436793.1_Missense_Mutation_p.L183R|WHSC1_ENST00000398261.1_Missense_Mutation_p.L183R|WHSC1_ENST00000382892.2_Missense_Mutation_p.L183R|WHSC1_ENST00000503128.1_Missense_Mutation_p.L183R|WHSC1_ENST00000420906.2_Missense_Mutation_p.L183R|WHSC1_ENST00000382891.5_Missense_Mutation_p.L183R|WHSC1_ENST00000508803.1_Missense_Mutation_p.L183R	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	183					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.L183R(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)		GAGCAGGGCCTTGTCGAAGCA	0.448			T	IGH@	MM																																p.L183R			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T548G	4						.						71.0	63.0	66.0					4																	1902929		2203	4300	6503	1872727	SO:0001583	missense	7468	exon3			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.548T>G	4.37:g.1902929T>G	ENSP00000372351:p.Leu183Arg	Somatic		Capture	SOLID	Phase_I	1872727	NM_133331	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106482	0.77096	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000515806;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;T;D;D;T;T;D;T;T;T	0.94931	-3.56;1.14;0.28;-3.56;-3.56;0.78;1.14;-3.56;1.13;1.12;1.13	5.47	5.47	0.80525	.	0.000000	0.49916	D	0.000135	D	0.94686	0.8286	L	0.36672	1.1	0.47009	D	0.999285	D;D;D;D;D	0.76494	0.998;0.998;0.991;0.999;0.998	D;D;P;D;D	0.74348	0.972;0.972;0.572;0.983;0.972	D	0.92538	0.6039	10	0.15499	T	0.54	.	14.1228	0.65201	0.0:0.0:0.0:1.0	.	183;183;183;183;183	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	R	183	ENSP00000423972:L183R;ENSP00000421681:L183R;ENSP00000427434:L183R;ENSP00000372347:L183R;ENSP00000372348:L183R;ENSP00000416725:L183R;ENSP00000399251:L183R;ENSP00000372351:L183R;ENSP00000425761:L183R;ENSP00000422878:L183R;ENSP00000381311:L183R	ENSP00000308780:L183R	L	+	2	0	WHSC1	1872727	1.000000	0.71417	0.891000	0.34965	0.986000	0.74619	1.673000	0.37534	2.064000	0.61679	0.533000	0.62120	CTT		0.448	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330	
GRK4	2868	hgsc.bcm.edu	37	4	3039118	3039118	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:3039118T>C	ENST00000398052.4	+	14	1768	c.1425T>C	c.(1423-1425)tgT>tgC	p.C475C	GRK4_ENST00000345167.6_Silent_p.C443C|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000504933.1_Silent_p.C475C|GRK4_ENST00000398051.4_Silent_p.C443C	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	475	AGC-kinase C-terminal.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.C475C(1)		lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCGTTTACTGTAAGGACGTCC	0.527											OREG0016045	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C475C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1425C	4						.						246.0	238.0	241.0					4																	3039118		2203	4300	6503	3008916	SO:0001819	synonymous_variant	2868	exon14				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1425T>C	4.37:g.3039118T>C		Somatic	608	Capture	SOLID	Phase_I	3008916	NM_182982	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Silent	SNP	ENST00000398052.4	37	CCDS33946.1																																																																																				0.527	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307	
LYAR	55646	hgsc.bcm.edu	37	4	4283621	4283621	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:4283621G>A	ENST00000343470.4	-	4	366	c.126C>T	c.(124-126)ggC>ggT	p.G42G	LYAR_ENST00000452476.1_Silent_p.G42G	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	42						nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G42G(1)		endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TATAGTCATCGCCCCTTTAAA	0.438																																					p.G42G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C126T	4						.						232.0	211.0	218.0					4																	4283621		2203	4300	6503	4334522	SO:0001819	synonymous_variant	55646	exon4			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.126C>T	4.37:g.4283621G>A		Somatic		Capture	SOLID	Phase_I	4334522	NM_001145725	D3DVS4|Q6FI78|Q9NYS1	Silent	SNP	ENST00000343470.4	37	CCDS3374.1																																																																																				0.438	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816	
EVC2	132884	hgsc.bcm.edu	37	4	5627564	5627564	+	Missense_Mutation	SNP	T	T	G	rs139678716		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:5627564T>G	ENST00000344408.5	-	13	2011	c.1958A>C	c.(1957-1959)aAg>aCg	p.K653T	EVC2_ENST00000344938.1_Missense_Mutation_p.K653T|EVC2_ENST00000310917.2_Missense_Mutation_p.K573T	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	653					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K653T(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAACTTCTGCTTGATTGAAAA	0.393																																					p.K573T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1718C	4						.						175.0	163.0	167.0					4																	5627564		2203	4300	6503	5678465	SO:0001583	missense	132884	exon13			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1958A>C	4.37:g.5627564T>G	ENSP00000342144:p.Lys653Thr	Somatic		Capture	SOLID	Phase_I	5678465	NM_001166136	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	T	16.50	3.140493	0.56936	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.81078	-1.45;-1.45;-1.45	5.54	0.344	0.16006	.	0.161694	0.56097	D	0.000040	D	0.83557	0.5280	M	0.67953	2.075	0.09310	N	1	D	0.76494	0.999	D	0.66847	0.947	T	0.72418	-0.4300	10	0.49607	T	0.09	-13.4318	5.2717	0.15628	0.0:0.2252:0.1407:0.634	.	653	Q86UK5	LBN_HUMAN	T	653;573;653	ENSP00000339954:K653T;ENSP00000311683:K573T;ENSP00000342144:K653T	ENSP00000311683:K573T	K	-	2	0	EVC2	5678465	0.932000	0.31603	0.028000	0.17463	0.958000	0.62258	1.544000	0.36158	0.058000	0.16222	0.528000	0.53228	AAG		0.393	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
PPP2R2C	5522	hgsc.bcm.edu	37	4	6325036	6325036	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:6325036A>G	ENST00000382599.4	-	9	1553	c.1337T>C	c.(1336-1338)aTg>aCg	p.M446T	PPP2R2C_ENST00000507294.1_Missense_Mutation_p.M439T|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.M439T|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.M446T|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.M429T			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	446					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.M446T(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TACCTAGTGCATGTCAGAGTT	0.562																																					p.M446T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1337C	4						.						202.0	146.0	165.0					4																	6325036		2203	4300	6503	6375937	SO:0001583	missense	5522	exon9			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.1337T>C	4.37:g.6325036A>G	ENSP00000372042:p.Met446Thr	Somatic		Capture	SOLID	Phase_I	6375937	NM_020416	A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37		.	.	.	.	.	.	.	.	.	.	A	11.51	1.659621	0.29515	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.28895	1.59;1.6;1.61;1.6;1.6	4.61	4.61	0.57282	.	0.143370	0.64402	D	0.000008	T	0.18676	0.0448	N	0.14661	0.345	0.47737	D	0.999509	B;B;B;B	0.27732	0.11;0.065;0.11;0.187	B;B;B;B	0.22601	0.027;0.027;0.027;0.04	T	0.05852	-1.0860	10	0.38643	T	0.18	-36.0082	13.3368	0.60522	1.0:0.0:0.0:0.0	.	439;446;429;446	B7Z3Y1;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;2ABG_HUMAN;.;.	T	446;439;429;446;439	ENSP00000335083:M446T;ENSP00000423649:M439T;ENSP00000422374:M429T;ENSP00000372042:M446T;ENSP00000425247:M439T	ENSP00000335083:M446T	M	-	2	0	PPP2R2C	6375937	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.811000	0.69187	1.942000	0.56320	0.459000	0.35465	ATG		0.562	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876	
RPL9	6133	hgsc.bcm.edu	37	4	39456504	39456504	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:39456504A>G	ENST00000449470.2	-	5	900	c.452T>C	c.(451-453)aTt>aCt	p.I151T	RPL9_ENST00000295955.9_Missense_Mutation_p.I151T	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	151					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)|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 large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.I151T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						AACAAGCTCAATGTCATTTCC	0.343																																					p.I151T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T452C	4						.						54.0	55.0	54.0					4																	39456504		2203	4298	6501	39132899	SO:0001583	missense	6133	exon6			D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367	ENST00000449470.2:c.452T>C	4.37:g.39456504A>G	ENSP00000400467:p.Ile151Thr	Somatic		Capture	SOLID	Phase_I	39132899	NM_000661		Missense_Mutation	SNP	ENST00000449470.2	37	CCDS3452.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.772270	0.49680	.	.	ENSG00000163682	ENST00000295955;ENST00000449470;ENST00000503040;ENST00000504470	.	.	.	5.49	5.49	0.81192	Ribosomal protein L6, alpha-beta domain (3);	0.000000	0.85682	U	0.000000	T	0.81522	0.4840	M	0.86805	2.84	0.58432	D	0.999998	B	0.19706	0.038	B	0.40636	0.335	T	0.81568	-0.0873	9	0.66056	D	0.02	.	14.8052	0.69948	1.0:0.0:0.0:0.0	.	151	P32969	RL9_HUMAN	T	151;151;146;151	.	ENSP00000346022:I151T	I	-	2	0	RPL9	39132899	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.374000	0.79633	2.090000	0.63153	0.459000	0.35465	ATT		0.343	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1		
LIMCH1	22998	hgsc.bcm.edu	37	4	41664994	41664994	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:41664994C>T	ENST00000313860.7	+	15	2183	c.2129C>T	c.(2128-2130)tCa>tTa	p.S710L	LIMCH1_ENST00000396595.3_Missense_Mutation_p.S556L|LIMCH1_ENST00000508501.1_Missense_Mutation_p.S710L|LIMCH1_ENST00000513024.1_Missense_Mutation_p.S539L|LIMCH1_ENST00000511496.1_Missense_Mutation_p.S551L|LIMCH1_ENST00000509277.1_Missense_Mutation_p.S544L|LIMCH1_ENST00000512820.1_Missense_Mutation_p.S698L|LIMCH1_ENST00000381753.4_Missense_Mutation_p.S544L|LIMCH1_ENST00000514096.1_Missense_Mutation_p.S551L|LIMCH1_ENST00000512632.1_Missense_Mutation_p.S710L|LIMCH1_ENST00000503057.1_Missense_Mutation_p.S1095L|LIMCH1_ENST00000512946.1_Missense_Mutation_p.S710L	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	710					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.S1095L(1)|p.S710L(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTGGTGCTGTCACAAAAGGTG	0.463																																					p.S544L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1631T	4						.						48.0	48.0	48.0					4																	41664994		2203	4300	6503	41359751	SO:0001583	missense	22998	exon9			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2129C>T	4.37:g.41664994C>T	ENSP00000316891:p.Ser710Leu	Somatic		Capture	SOLID	Phase_I	41359751	NM_001112720	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.51|12.51	1.960141|1.960141	0.34565|0.34565	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000508466|ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.57273	.|0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.676690	.|0.13641	.|N	.|0.372950	T|T	0.68430|0.68430	0.3000|0.3000	L|L	0.59436|0.59436	1.845|1.845	0.40495|0.40495	D|D	0.980585|0.980585	.|B;B;B;P;B;B;D;B;B;B;B;D	.|0.62365	.|0.007;0.003;0.125;0.893;0.005;0.01;0.991;0.005;0.019;0.016;0.028;0.991	.|B;B;B;B;B;B;D;B;B;B;B;D	.|0.78314	.|0.001;0.002;0.105;0.304;0.017;0.017;0.991;0.03;0.034;0.015;0.034;0.989	T|T	0.64884|0.64884	-0.6302|-0.6302	5|10	.|0.39692	.|T	.|0.17	-12.7054|-12.7054	13.8408|13.8408	0.63437|0.63437	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|551;461;544;710;544;556;1095;539;698;710;710;710	.|E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.|.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	Y|L	545|539;710;710;710;710;698;1095;551;1094;551;544;556;544;63	.|ENSP00000425222:S539L;ENSP00000424825:S710L;ENSP00000424645:S710L;ENSP00000316891:S710L;ENSP00000427045:S710L;ENSP00000424437:S698L;ENSP00000425631:S1095L;ENSP00000421242:S551L;ENSP00000426334:S551L;ENSP00000422864:S544L;ENSP00000379840:S556L;ENSP00000371172:S544L	.|ENSP00000316891:S710L	H|S	+|+	1|2	0|0	LIMCH1|LIMCH1	41359751|41359751	0.983000|0.983000	0.35010|0.35010	0.988000|0.988000	0.46212|0.46212	0.563000|0.563000	0.35712|0.35712	2.599000|2.599000	0.46231|0.46231	2.321000|2.321000	0.78463|0.78463	0.563000|0.563000	0.77884|0.77884	CAC|TCA		0.463	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988	
MOB1B	92597	hgsc.bcm.edu	37	4	71844877	71844877	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:71844877G>A	ENST00000309395.2	+	5	643	c.442G>A	c.(442-444)Gca>Aca	p.A148T	MOB1B_ENST00000511449.1_Intron|MOB1B_ENST00000396051.2_Missense_Mutation_p.A153T	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	148					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)	p.A148T(1)									CATGTCTGTGGCAAAAACTAT	0.408																																					p.A148T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442A	4						.						152.0	151.0	152.0					4																	71844877		2203	4300	6503	72063741	SO:0001583	missense	92597	exon5			BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.442G>A	4.37:g.71844877G>A	ENSP00000310189:p.Ala148Thr	Somatic		Capture	SOLID	Phase_I	72063741	NM_173468	B2R8U6|B4DRY3|Q8IY23	Missense_Mutation	SNP	ENST00000309395.2	37	CCDS34002.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299991	0.81136	.	.	ENSG00000173542	ENST00000309395;ENST00000396051	.	.	.	5.26	5.26	0.73747	.	0.048575	0.85682	D	0.000000	T	0.69360	0.3102	M	0.70275	2.135	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.20767	0.031;0.031	T	0.67891	-0.5553	9	0.59425	D	0.04	-41.7804	18.8604	0.92270	0.0:0.0:1.0:0.0	.	153;148	B4DRY3;Q7L9L4	.;MOB1B_HUMAN	T	148;153	.	ENSP00000310189:A148T	A	+	1	0	MOBKL1A	72063741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.452000	0.82932	0.561000	0.74099	GCA		0.408	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362634.1	NM_173468	
ALB	213	hgsc.bcm.edu	37	4	74276061	74276061	+	Silent	SNP	G	G	A	rs140065129	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:74276061G>A	ENST00000503124.1	+	4	405	c.198G>A	c.(196-198)tcG>tcA	p.S66S	ALB_ENST00000295897.4_Silent_p.S216S|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Silent_p.S101S|ALB_ENST00000509063.1_Silent_p.S216S|ALB_ENST00000415165.2_Intron			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.S216S(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAAGGCTTCGTCTGCCAAAC	0.373																																					p.S216S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G648A	4						.	G		0,4406		0,0,2203	85.0	90.0	88.0		648	-10.9	0.0	4	dbSNP_134	88	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ALB	NM_000477.5		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		216/610	74276061	3,13003	2203	4300	6503	74494925	SO:0001819	synonymous_variant	213	exon6			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.198G>A	4.37:g.74276061G>A		Somatic		Capture	SOLID	Phase_I	74494925	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000503124.1	37		.	.	.	.	.	.	.	.	.	.	G	11.55	1.673243	0.29693	0.0	3.49E-4	ENSG00000163631	ENST00000511370	.	.	.	5.46	-10.9	0.00192	.	.	.	.	.	T	0.13114	0.0318	.	.	.	0.19575	N	0.999965	.	.	.	.	.	.	T	0.13602	-1.0503	4	.	.	.	-2.8436	0.8618	0.01194	0.2389:0.3332:0.2106:0.2173	.	.	.	.	I	61	.	.	V	+	1	0	ALB	74494925	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-1.283000	0.02796	-1.416000	0.02019	-1.802000	0.00618	GTC		0.373	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
AFM	173	hgsc.bcm.edu	37	4	74357666	74357666	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:74357666A>G	ENST00000226355.3	+	8	1014	c.921A>G	c.(919-921)atA>atG	p.I307M		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	307	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.I307M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAAGAAAATACCAGAGCGCG	0.358																																					p.I307M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A921G	4						.						84.0	89.0	88.0					4																	74357666		2203	4300	6503	74576530	SO:0001583	missense	173	exon8			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.921A>G	4.37:g.74357666A>G	ENSP00000226355:p.Ile307Met	Somatic		Capture	SOLID	Phase_I	74576530	NM_001133	A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	A	8.893	0.954400	0.18431	.	.	ENSG00000079557	ENST00000226355	T	0.73897	-0.79	5.06	-6.66	0.01789	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.953080	0.08834	N	0.886789	T	0.53753	0.1816	L	0.27053	0.805	0.09310	N	1	B	0.22146	0.065	B	0.21917	0.037	T	0.40496	-0.9560	10	0.36615	T	0.2	.	6.4067	0.21668	0.2658:0.4038:0.3304:0.0	.	307	P43652	AFAM_HUMAN	M	307	ENSP00000226355:I307M	ENSP00000226355:I307M	I	+	3	3	AFM	74576530	0.000000	0.05858	0.000000	0.03702	0.735000	0.41995	-1.643000	0.02004	-1.012000	0.03387	0.369000	0.22263	ATA		0.358	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
SCARB2	950	hgsc.bcm.edu	37	4	77091128	77091128	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:77091128G>A	ENST00000264896.2	-	8	1354	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	SCARB2_ENST00000452464.2_Silent_p.I192I	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	335					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)	p.I335I(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			AAGACATAATGATGGGTGCAC	0.423																																					p.I335I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1005T	4						.						140.0	131.0	134.0					4																	77091128		2203	4300	6503	77310152	SO:0001819	synonymous_variant	950	exon8			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1005C>T	4.37:g.77091128G>A		Somatic		Capture	SOLID	Phase_I	77310152	NM_005506	B4DKD8|E7EM68|Q53Y63	Silent	SNP	ENST00000264896.2	37	CCDS3577.1																																																																																				0.423	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506	
THAP9	79725	hgsc.bcm.edu	37	4	83826083	83826083	+	Splice_Site	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:83826083A>G	ENST00000302236.5	+	2	326	c.275A>G	c.(274-276)aAg>aGg	p.K92R		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	92					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.K92R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TCTCTATACAAGGTATTTAAA	0.338																																					p.K92R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A275G	4						.						50.0	53.0	52.0					4																	83826083		2203	4300	6503	84045107	SO:0001630	splice_region_variant	79725	exon2			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.276+1A>G	4.37:g.83826083A>G		Somatic		Capture	SOLID	Phase_I	84045107	NM_024672	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.289508	0.23478	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90069	-2.61	3.62	2.41	0.29592	Zinc finger, C2CH-type (2);	1.867620	0.02948	N	0.141366	D	0.88043	0.6331	N	0.25485	0.75	0.26270	N	0.978437	D	0.55605	0.972	P	0.54401	0.751	T	0.76719	-0.2856	9	.	.	.	-11.0159	7.1202	0.25440	0.7698:0.2302:0.0:0.0	.	92	Q9H5L6	THAP9_HUMAN	R	92	ENSP00000305533:K92R	.	K	+	2	0	THAP9	84045107	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	3.990000	0.56965	0.749000	0.32854	-0.321000	0.08615	AAG		0.338	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672	Missense_Mutation
ARHGAP24	83478	hgsc.bcm.edu	37	4	86916028	86916028	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:86916028T>C	ENST00000395184.1	+	9	1687	c.1221T>C	c.(1219-1221)gtT>gtC	p.V407V	ARHGAP24_ENST00000395183.2_Silent_p.V312V|ARHGAP24_ENST00000264343.4_Silent_p.V314V	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	407					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.V314V(1)|p.V407V(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AGAACAGTGTTCACAAGCTAG	0.502																																					p.V314V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T942C	4						.						180.0	190.0	187.0					4																	86916028		2203	4300	6503	87135052	SO:0001819	synonymous_variant	83478	exon6			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1221T>C	4.37:g.86916028T>C		Somatic		Capture	SOLID	Phase_I	87135052	NM_031305	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	CCDS34025.1																																																																																				0.502	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305	
HERC3	8916	hgsc.bcm.edu	37	4	89579601	89579601	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:89579601T>C	ENST00000402738.1	+	10	1344	c.1105T>C	c.(1105-1107)Tct>Cct	p.S369P	HERC3_ENST00000543130.1_5'UTR|HERC3_ENST00000264345.3_Missense_Mutation_p.S369P	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	369					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S369P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GCAGATCTTCTCTGGAGGAGA	0.333																																					p.S369P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1105C	4						.						95.0	93.0	94.0					4																	89579601		2203	4300	6503	89798624	SO:0001583	missense	8916	exon10			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1105T>C	4.37:g.89579601T>C	ENSP00000385684:p.Ser369Pro	Somatic		Capture	SOLID	Phase_I	89798624	NM_014606	A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.197992	0.79015	.	.	ENSG00000138641	ENST00000402738;ENST00000264345	D;D	0.85484	-1.99;-1.99	5.18	5.18	0.71444	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.055932	0.85682	D	0.000000	D	0.92322	0.7564	M	0.82193	2.58	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.93402	0.6761	10	0.72032	D	0.01	.	15.1942	0.73071	0.0:0.0:0.0:1.0	.	369	Q15034	HERC3_HUMAN	P	369	ENSP00000385684:S369P;ENSP00000264345:S369P	ENSP00000264345:S369P	S	+	1	0	HERC3	89798624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.395000	0.59678	2.172000	0.68678	0.533000	0.62120	TCT		0.333	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606	
DCTD	1635	hgsc.bcm.edu	37	4	183815748	183815748	+	Silent	SNP	C	C	T	rs6552619	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr4:183815748C>T	ENST00000438320.2	-	4	545	c.255G>A	c.(253-255)gcG>gcA	p.A85A	DCTD_ENST00000510370.1_Silent_p.A85A|DCTD_ENST00000357067.3_Silent_p.A96A	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	85					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.A85A(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)	CATTCAGCTCCGCATGGCACA	0.428													G|||	6	0.00119808	0.0	0.0	5008	,	,		21355	0.006		0.0	False		,,,				2504	0.0				p.A85A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G255A	4						.						168.0	141.0	150.0					4																	183815748		2203	4300	6503	184052742	SO:0001819	synonymous_variant	1635	exon4			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.255G>A	4.37:g.183815748C>T		Somatic		Capture	SOLID	Phase_I	184052742	NM_001921	B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Silent	SNP	ENST00000438320.2	37	CCDS3831.1																																																																																				0.428	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361743.2		
BTK	695	hgsc.bcm.edu	37	X	100630268	100630268	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:100630268G>A	ENST00000308731.7	-	2	168	c.5C>T	c.(4-6)gCc>gTc	p.A2V	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.A2V	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	2					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.A2V(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AATCACTGCGGCCATAGCTTC	0.473									Agammaglobulinemia, X-linked																												p.A2V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5T	X						.						130.0	118.0	122.0					X																	100630268		2203	4300	6503	100516924	SO:0001583	missense	695	exon2	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.5C>T	X.37:g.100630268G>A	ENSP00000308176:p.Ala2Val	Somatic		Capture	SOLID	Phase_I	100516924	NM_000061	B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410416	0.62399	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;T	0.82619	-1.63;-1.01	5.35	5.35	0.76521	.	0.057298	0.64402	D	0.000001	T	0.73210	0.3558	N	0.08118	0	0.54753	D	0.999988	P;P;B	0.47762	0.9;0.666;0.437	B;B;B	0.43754	0.43;0.194;0.115	T	0.80091	-0.1527	10	0.72032	D	0.01	.	17.811	0.88616	0.0:0.0:1.0:0.0	.	2;2;2	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	V	2	ENSP00000361971:A2V;ENSP00000308176:A2V	ENSP00000308176:A2V	A	-	2	0	BTK	100516924	1.000000	0.71417	0.996000	0.52242	0.540000	0.34992	7.999000	0.88496	2.237000	0.73441	0.600000	0.82982	GCC		0.473	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	
RBM41	55285	hgsc.bcm.edu	37	X	106312568	106312568	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:106312568C>T	ENST00000372479.3	-	6	1022	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	RBM41_ENST00000372487.1_Missense_Mutation_p.R331Q	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	331	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R331Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						CTCCTGGAACCGAGCGAACAA	0.418																																					p.R331Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G992A	X						.						150.0	141.0	144.0					X																	106312568		2203	4300	6503	106199224	SO:0001583	missense	55285	exon6			BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.992G>A	X.37:g.106312568C>T	ENSP00000361557:p.Arg331Gln	Somatic		Capture	SOLID	Phase_I	106199224	NM_001171080	Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	ENST00000372479.3	37	CCDS14526.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714939	0.89112	.	.	ENSG00000089682	ENST00000372487;ENST00000372479	T;T	0.14516	2.5;2.5	5.83	4.97	0.65823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.23532	0.0569	L	0.31804	0.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01541	-1.1329	10	0.54805	T	0.06	.	9.7283	0.40346	0.0:0.9031:0.0:0.0969	.	331	Q96IZ5	RBM41_HUMAN	Q	331	ENSP00000361565:R331Q;ENSP00000361557:R331Q	ENSP00000361557:R331Q	R	-	2	0	RBM41	106199224	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.844000	0.69430	1.202000	0.43218	0.600000	0.82982	CGG		0.418	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301	
COL4A6	1288	hgsc.bcm.edu	37	X	107400241	107400241	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:107400241T>C	ENST00000372216.4	-	45	5165	c.5065A>G	c.(5065-5067)Aaa>Gaa	p.K1689E	COL4A6_ENST00000394872.2_Missense_Mutation_p.K1689E|COL4A6_ENST00000334504.7_Missense_Mutation_p.K1688E|COL4A6_ENST00000538570.1_Missense_Mutation_p.K1631E|COL4A6_ENST00000545689.1_Missense_Mutation_p.K1664E|COL4A6_ENST00000418180.1_Intron	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1689	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.K1688E(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TACAGGCTTTTCATACACACC	0.582									Alport syndrome with Diffuse Leiomyomatosis																												p.K1688E	Melanoma(87;1895 1945 2589 7165)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5062G	X						.						62.0	65.0	64.0					X																	107400241		2203	4300	6503	107286897	SO:0001583	missense	1288	exon45	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.5065A>G	X.37:g.107400241T>C	ENSP00000361290:p.Lys1689Glu	Somatic		Capture	SOLID	Phase_I	107286897	NM_033641	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705856	0.68615	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44	5.42	5.42	0.78866	C-type lectin fold (1);	0.173219	0.27749	N	0.018008	D	0.96842	0.8969	M	0.88105	2.93	0.43703	D	0.996162	P;P;P;P	0.48834	0.897;0.897;0.916;0.897	P;P;P;P	0.54664	0.639;0.639;0.754;0.758	D	0.97448	1.0026	10	0.87932	D	0	.	14.6738	0.68964	0.0:0.0:0.0:1.0	.	1664;1631;1689;1688	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	E	1689;1688;1689;1676;1664;1631	ENSP00000361290:K1689E;ENSP00000334733:K1688E;ENSP00000378340:K1689E;ENSP00000443707:K1664E;ENSP00000445236:K1631E	ENSP00000334733:K1688E	K	-	1	0	COL4A6	107286897	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.803000	0.85983	1.914000	0.55421	0.417000	0.27973	AAA		0.582	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
COL4A6	1288	hgsc.bcm.edu	37	X	107454945	107454945	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:107454945T>C	ENST00000372216.4	-	7	570	c.470A>G	c.(469-471)aAa>aGa	p.K157R	COL4A6_ENST00000394872.2_Missense_Mutation_p.K155R|COL4A6_ENST00000334504.7_Missense_Mutation_p.K156R|COL4A6_ENST00000538570.1_Missense_Mutation_p.K156R|COL4A6_ENST00000545689.1_Missense_Mutation_p.K156R	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	157	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.K156R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGGGTCACCTTTTGATCCTTT	0.398									Alport syndrome with Diffuse Leiomyomatosis																												p.K156R	Melanoma(87;1895 1945 2589 7165)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A467G	X						.						95.0	89.0	91.0					X																	107454945		2203	4300	6503	107341601	SO:0001583	missense	1288	exon7	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.470A>G	X.37:g.107454945T>C	ENSP00000361290:p.Lys157Arg	Somatic		Capture	SOLID	Phase_I	107341601	NM_033641	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.610241	0.28712	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.95588	-3.75;-3.75;-3.36;-3.75;-3.75	5.15	5.15	0.70609	.	0.400818	0.18775	N	0.131500	D	0.95066	0.8402	L	0.47716	1.5	0.32639	N	0.520951	D;D;D;D	0.57257	0.974;0.974;0.979;0.974	P;P;P;P	0.54664	0.641;0.758;0.755;0.641	D	0.95190	0.8307	10	0.36615	T	0.2	.	11.9404	0.52896	0.0:0.0:0.0:1.0	.	156;156;157;156	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	R	157;156;155;156;156;156	ENSP00000361290:K157R;ENSP00000334733:K156R;ENSP00000378340:K155R;ENSP00000443707:K156R;ENSP00000445236:K156R	ENSP00000334733:K156R	K	-	2	0	COL4A6	107341601	1.000000	0.71417	0.926000	0.36857	0.572000	0.35998	4.740000	0.62087	1.973000	0.57446	0.486000	0.48141	AAA		0.398	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
COL4A6	1288	hgsc.bcm.edu	37	X	107457429	107457429	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:107457429G>A	ENST00000372216.4	-	6	457	c.357C>T	c.(355-357)ggC>ggT	p.G119G	COL4A6_ENST00000394872.2_Silent_p.G117G|COL4A6_ENST00000334504.7_Silent_p.G118G|COL4A6_ENST00000538570.1_Silent_p.G118G|COL4A6_ENST00000545689.1_Silent_p.G118G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	119	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G118G(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GACCAGGTGGGCCTCTGGGGC	0.547									Alport syndrome with Diffuse Leiomyomatosis																												p.G118G	Melanoma(87;1895 1945 2589 7165)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C354T	X						.						89.0	80.0	83.0					X																	107457429		2203	4300	6503	107344085	SO:0001819	synonymous_variant	1288	exon6	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.357C>T	X.37:g.107457429G>A		Somatic		Capture	SOLID	Phase_I	107344085	NM_033641	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	CCDS14541.1																																																																																				0.547	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
COL4A5	1287	hgsc.bcm.edu	37	X	107842066	107842066	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:107842066T>C	ENST00000361603.2	+	25	2158	c.1914T>C	c.(1912-1914)ggT>ggC	p.G638G	COL4A5_ENST00000328300.6_Silent_p.G638G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	638	Triple-helical region.		G -> A (in APSX). {ECO:0000269|PubMed:7599631}.|G -> S (in APSX; juvenile type).|G -> V (in APSX). {ECO:0000269|PubMed:7599631}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.G638G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCATACAAGGTGTGGCAGGAA	0.483									Alport syndrome with Diffuse Leiomyomatosis																												p.G638G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1914C	X						.						71.0	75.0	73.0					X																	107842066		2203	4300	6503	107728722	SO:0001819	synonymous_variant	1287	exon25	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1914T>C	X.37:g.107842066T>C		Somatic		Capture	SOLID	Phase_I	107728722	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	CCDS14543.1																																																																																				0.483	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
IRS4	8471	hgsc.bcm.edu	37	X	107979262	107979262	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:107979262C>T	ENST00000372129.2	-	1	389	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	105	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.A105T(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGAGCTGGGGCGTCAGCAGTC	0.657																																					p.A105T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313A	X						.						63.0	54.0	57.0					X																	107979262		2203	4296	6499	107865918	SO:0001583	missense	8471	exon1			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.313G>A	X.37:g.107979262C>T	ENSP00000361202:p.Ala105Thr	Somatic		Capture	SOLID	Phase_I	107865918	NM_003604		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495417	0.64186	.	.	ENSG00000133124	ENST00000372129	T	0.71817	-0.6	3.87	2.99	0.34606	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.075121	0.53938	D	0.000054	T	0.61702	0.2368	L	0.33485	1.01	0.39174	D	0.962649	D	0.54601	0.967	B	0.44085	0.44	T	0.66795	-0.5833	10	0.59425	D	0.04	-2.4266	13.1886	0.59697	0.0:0.8432:0.1568:0.0	.	105	O14654	IRS4_HUMAN	T	105	ENSP00000361202:A105T	ENSP00000361202:A105T	A	-	1	0	IRS4	107865918	0.014000	0.17966	0.816000	0.32577	0.661000	0.39034	0.878000	0.28126	0.778000	0.33520	0.529000	0.55759	GCC		0.657	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
UPF3B	65109	hgsc.bcm.edu	37	X	118985490	118985490	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:118985490C>T	ENST00000276201.2	-	3	407	c.338G>A	c.(337-339)cGc>cAc	p.R113H	UPF3B_ENST00000345865.2_Missense_Mutation_p.R113H	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	113	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R113H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						ACCATCAAAGCGATCCCTGAA	0.358																																					p.R113H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G338A	X						.						115.0	94.0	101.0					X																	118985490		2203	4299	6502	118869518	SO:0001583	missense	65109	exon3			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.338G>A	X.37:g.118985490C>T	ENSP00000276201:p.Arg113His	Somatic		Capture	SOLID	Phase_I	118869518	NM_080632	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674817	0.88445	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.64991	-0.13;-0.13	5.1	5.1	0.69264	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.80834	0.4699	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.84327	0.0519	10	0.87932	D	0	.	16.142	0.81534	0.0:1.0:0.0:0.0	.	113;113	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	H	113	ENSP00000276201:R113H;ENSP00000245418:R113H	ENSP00000276201:R113H	R	-	2	0	UPF3B	118869518	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.226000	0.78060	2.111000	0.64477	0.600000	0.82982	CGC		0.358	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1		
ZNF449	203523	hgsc.bcm.edu	37	X	134494551	134494551	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:134494551C>A	ENST00000339249.4	+	5	1247	c.1107C>A	c.(1105-1107)caC>caA	p.H369Q		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	369					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.H369Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTTATAGACACCAACGACTTC	0.453																																					p.H369Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1107A	X						.						100.0	92.0	95.0					X																	134494551		2203	4299	6502	134322217	SO:0001583	missense	203523	exon5			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.1107C>A	X.37:g.134494551C>A	ENSP00000339585:p.His369Gln	Somatic		Capture	SOLID	Phase_I	134322217	NM_152695	Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100703	0.37048	.	.	ENSG00000173275	ENST00000339249	D	0.86865	-2.18	4.67	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000231	D	0.93848	0.8032	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93149	0.6548	10	0.87932	D	0	.	7.8349	0.29363	0.0:0.7849:0.0:0.2151	.	369	Q6P9G9	ZN449_HUMAN	Q	369	ENSP00000339585:H369Q	ENSP00000339585:H369Q	H	+	3	2	ZNF449	134322217	0.209000	0.23505	0.933000	0.37362	0.354000	0.29330	0.224000	0.17738	1.094000	0.41399	0.600000	0.82982	CAC		0.453	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695	
GPR112	139378	hgsc.bcm.edu	37	X	135427098	135427098	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:135427098T>C	ENST00000394143.1	+	6	1524	c.1233T>C	c.(1231-1233)tcT>tcC	p.S411S	GPR112_ENST00000394141.1_Silent_p.S206S|GPR112_ENST00000412101.1_Silent_p.S206S|GPR112_ENST00000287534.4_Silent_p.S348S|GPR112_ENST00000370652.1_Silent_p.S411S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	411					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S411S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGTCAACATCTATGTCTACAA	0.403																																					p.S411S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1233C	X						.						88.0	84.0	86.0					X																	135427098		2202	4300	6502	135254764	SO:0001819	synonymous_variant	139378	exon6			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1233T>C	X.37:g.135427098T>C		Somatic		Capture	SOLID	Phase_I	135254764	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																				0.403	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
VGLL1	51442	hgsc.bcm.edu	37	X	135630958	135630958	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:135630958T>A	ENST00000370634.3	+	3	595	c.425T>A	c.(424-426)tTa>tAa	p.L142*	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.L142*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					ACCAGCTCCTTAGAGCCTGGC	0.622																																					p.L142X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T425A	X						.						133.0	108.0	117.0					X																	135630958		2203	4300	6503	135458624	SO:0001587	stop_gained	51442	exon3			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.425T>A	X.37:g.135630958T>A	ENSP00000359668:p.Leu142*	Somatic		Capture	SOLID	Phase_I	135458624	NM_016267	Q5H915	Nonsense_Mutation	SNP	ENST00000370634.3	37	CCDS14658.1	.	.	.	.	.	.	.	.	.	.	T	9.754	1.168213	0.21621	.	.	ENSG00000102243	ENST00000370634	.	.	.	5.81	-1.61	0.08399	.	1.861750	0.02189	N	0.061192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	7.6558	5.7063	0.17911	0.1334:0.3539:0.0:0.5127	.	.	.	.	X	142	.	ENSP00000359668:L142X	L	+	2	0	VGLL1	135458624	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.103000	0.10940	-0.567000	0.06046	-0.287000	0.09952	TTA		0.622	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267	
FANCB	2187	hgsc.bcm.edu	37	X	14861943	14861943	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:14861943C>A	ENST00000324138.3	-	9	2479	c.2326G>T	c.(2326-2328)Gcc>Tcc	p.A776S	FANCB_ENST00000398334.1_Missense_Mutation_p.A776S	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	776					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)		p.A776S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TTAGCTATGGCAGAAGAAAGA	0.378								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.A776S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2326T	X						.						105.0	96.0	99.0					X																	14861943		2203	4299	6502	14771864	SO:0001583	missense	2187	exon10	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.2326G>T	X.37:g.14861943C>A	ENSP00000326819:p.Ala776Ser	Somatic		Capture	SOLID	Phase_I	14771864	NM_001018113	B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	C	9.595	1.127075	0.20959	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.6	0.536	0.17138	.	0.871986	0.10269	N	0.695008	T	0.39489	0.1080	M	0.61703	1.905	0.09310	N	1	D	0.59767	0.986	P	0.58130	0.833	T	0.28427	-1.0044	9	0.11182	T	0.66	0.77	0.1706	0.00113	0.2511:0.239:0.2424:0.2674	.	776	Q8NB91	FANCB_HUMAN	S	776	.	ENSP00000326819:A776S	A	-	1	0	FANCB	14771864	0.010000	0.17322	0.001000	0.08648	0.362000	0.29581	0.023000	0.13533	-0.356000	0.08187	-0.245000	0.11935	GCC		0.378	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633	
SOX3	6658	hgsc.bcm.edu	37	X	139586703	139586703	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:139586703C>T	ENST00000370536.2	-	1	522	c.523G>A	c.(523-525)Gcc>Acc	p.A175T		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	175					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A175T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					TTCCAGTCGGCGCCCAAGCGC	0.592																																					p.A175T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523A	X						.						73.0	70.0	71.0					X																	139586703		2203	4300	6503	139414369	SO:0001583	missense	6658	exon1				CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.523G>A	X.37:g.139586703C>T	ENSP00000359567:p.Ala175Thr	Somatic		Capture	SOLID	Phase_I	139414369	NM_005634	P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	c	27.2	4.805502	0.90623	.	.	ENSG00000134595	ENST00000370536	D	0.98075	-4.7	4.12	4.12	0.48240	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.97657	0.9232	L	0.46741	1.465	0.80722	D	1	D	0.71674	0.998	D	0.68039	0.955	D	0.97350	0.9963	9	.	.	.	.	14.7169	0.69275	0.0:1.0:0.0:0.0	.	175	P41225	SOX3_HUMAN	T	175	ENSP00000359567:A175T	.	A	-	1	0	SOX3	139414369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.208000	0.77907	1.638000	0.50547	0.525000	0.51046	GCC		0.592	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1		
VMA21	203547	hgsc.bcm.edu	37	X	150572106	150572106	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:150572106T>C	ENST00000330374.6	+	2	162	c.57T>C	c.(55-57)aaT>aaC	p.N19N	VMA21_ENST00000477649.1_3'UTR|VMA21_ENST00000370361.1_Silent_p.N74N	NM_001017980.3	NP_001017980.1			VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)									p.N19N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						ATTCCAGAAATGAAAGCTCAT	0.358																																					p.N19N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T57C	X						.						187.0	180.0	182.0					X																	150572106		2203	4300	6503	150322764	SO:0001819	synonymous_variant	203547	exon2			AK096835	CCDS35430.1	Xq28	2014-09-17			ENSG00000160131	ENSG00000160131			22082	protein-coding gene	gene with protein product		300913	"""myopathy with excessive autophagy"""	MEAX		2892402, 10757644, 19379691	Standard	NM_001017980		Approved	XMEA	uc004feu.3	Q3ZAQ7	OTTHUMG00000024168	ENST00000330374.6:c.57T>C	X.37:g.150572106T>C		Somatic		Capture	SOLID	Phase_I	150322764	NM_001017980		Silent	SNP	ENST00000330374.6	37	CCDS35430.1																																																																																				0.358	VMA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060876.1	NM_001017980	
GAB3	139716	hgsc.bcm.edu	37	X	153944340	153944340	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:153944340T>C	ENST00000369575.3	-	2	368	c.337A>G	c.(337-339)Agt>Ggt	p.S113G	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.S113G	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	113	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				macrophage differentiation (GO:0030225)			p.S113G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGACCTGACTGATGCTGTGC	0.517																																					p.S113G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A337G	X						.						173.0	148.0	156.0					X																	153944340		2203	4300	6503	153597534	SO:0001583	missense	139716	exon2			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.337A>G	X.37:g.153944340T>C	ENSP00000358588:p.Ser113Gly	Somatic		Capture	SOLID	Phase_I	153597534	NM_001081573	A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.850457	0.51270	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.75938	-0.98;-0.98;-0.98	5.03	5.03	0.67393	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.170778	0.64402	D	0.000004	T	0.72070	0.3415	N	0.20357	0.565	0.39448	D	0.967362	D;D;D	0.56968	0.978;0.978;0.978	P;P;P	0.57911	0.829;0.829;0.829	T	0.75348	-0.3349	10	0.49607	T	0.09	-15.0974	11.7064	0.51599	0.0:0.0:0.0:1.0	.	113;113;113	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	G	113	ENSP00000358588:S113G;ENSP00000358581:S113G;ENSP00000399588:S113G	ENSP00000358581:S113G	S	-	1	0	GAB3	153597534	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.471000	0.45127	1.664000	0.50801	0.425000	0.28330	AGT		0.517	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573	
DKC1	1736	hgsc.bcm.edu	37	X	153994220	153994220	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:153994220A>G	ENST00000369550.5	+	4	420	c.210A>G	c.(208-210)acA>acG	p.T70T	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	70					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)	p.T70T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACACTATACACCTCTTGCAT	0.388									Congenital Dyskeratosis																												p.T70T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A210G	X						.						181.0	154.0	163.0					X																	153994220		2203	4300	6503	153647414	SO:0001819	synonymous_variant	1736	exon4	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.210A>G	X.37:g.153994220A>G		Somatic		Capture	SOLID	Phase_I	153647414	NM_001363	F5BSB3|O43845|Q96G67|Q9Y505	Silent	SNP	ENST00000369550.5	37	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.326981	0.24080	.	.	ENSG00000130826	ENST00000437719	D	0.97598	-4.45	5.88	-3.34	0.04943	.	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87244	0.2268	7	0.87932	D	0	-18.7209	0.495	0.00570	0.4183:0.1684:0.1608:0.2525	.	.	.	.	A	56	ENSP00000395693:T56A	ENSP00000395693:T56A	T	+	1	0	DKC1	153647414	0.200000	0.23398	0.950000	0.38849	0.838000	0.47535	-0.459000	0.06728	-0.983000	0.03511	0.486000	0.48141	ACC		0.388	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363	
ARSH	347527	hgsc.bcm.edu	37	X	2924731	2924731	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:2924731T>C	ENST00000381130.2	+	1	78	c.78T>C	c.(76-78)ggT>ggC	p.G26G		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	26					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.G26G(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCTGCTACGGTAATAACTCAG	0.502																																					p.G26G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T78C	X						.						242.0	169.0	194.0					X																	2924731		2203	4300	6503	2934731	SO:0001819	synonymous_variant	347527	exon1			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.78T>C	X.37:g.2924731T>C		Somatic		Capture	SOLID	Phase_I	2934731	NM_001011719		Silent	SNP	ENST00000381130.2	37	CCDS35198.1																																																																																				0.502	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719	
MXRA5	25878	hgsc.bcm.edu	37	X	3240772	3240772	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:3240772T>C	ENST00000217939.6	-	5	3108	c.2954A>G	c.(2953-2955)aAg>aGg	p.K985R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	985						extracellular vesicular exosome (GO:0070062)		p.K985R(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGTTGTGACTTAGTCTCCAA	0.473																																					p.K985R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2954G	X						.						135.0	99.0	111.0					X																	3240772		2203	4300	6503	3250772	SO:0001583	missense	25878	exon5			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2954A>G	X.37:g.3240772T>C	ENSP00000217939:p.Lys985Arg	Somatic		Capture	SOLID	Phase_I	3250772	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	7.272	0.607420	0.14002	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63255	-0.03	3.19	2.01	0.26516	.	1.372390	0.05252	U	0.514065	T	0.40522	0.1120	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.10450	0.005	T	0.24048	-1.0171	10	0.27785	T	0.31	.	5.8573	0.18727	0.0:0.136:0.0:0.864	.	985	Q9NR99	MXRA5_HUMAN	R	985	ENSP00000217939:K985R	ENSP00000217939:K985R	K	-	2	0	MXRA5	3250772	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.277000	0.18734	0.201000	0.20466	0.430000	0.28490	AAG		0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	hgsc.bcm.edu	37	X	3248200	3248200	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:3248200A>C	ENST00000217939.6	-	4	722	c.568T>G	c.(568-570)Tta>Gta	p.L190V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	190						extracellular vesicular exosome (GO:0070062)		p.L190V(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCTCTGCTAAGTAGAGGTGC	0.493																																					p.L190V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T568G	X						.						84.0	68.0	73.0					X																	3248200		2203	4300	6503	3258200	SO:0001583	missense	25878	exon4			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.568T>G	X.37:g.3248200A>C	ENSP00000217939:p.Leu190Val	Somatic		Capture	SOLID	Phase_I	3258200	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.344154	0.41498	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.07800	3.16	3.56	-7.13	0.01532	.	0.000000	0.29783	U	0.011205	T	0.25901	0.0631	M	0.83774	2.66	0.09310	N	0.999997	D	0.76494	0.999	D	0.78314	0.991	T	0.40021	-0.9585	10	0.87932	D	0	.	16.8055	0.85626	0.3015:0.0:0.6985:0.0	.	190	Q9NR99	MXRA5_HUMAN	V	190	ENSP00000217939:L190V	ENSP00000217939:L190V	L	-	1	2	MXRA5	3258200	0.949000	0.32298	0.000000	0.03702	0.004000	0.04260	0.044000	0.13992	-2.534000	0.00489	-1.035000	0.02400	TTA		0.493	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
GRPR	2925	hgsc.bcm.edu	37	X	16142156	16142156	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:16142156A>C	ENST00000380289.2	+	1	478	c.80A>C	c.(79-81)gAt>gCt	p.D27A		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	27					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)	p.D27A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CACAGTGCGGATCTCCCCGTG	0.488											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D27A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A80C	X						.						198.0	183.0	188.0					X																	16142156		2203	4300	6503	16052077	SO:0001583	missense	2925	exon1				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.80A>C	X.37:g.16142156A>C	ENSP00000369643:p.Asp27Ala	Somatic	708	Capture	SOLID	Phase_I	16052077	NM_005314	B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964305	0.34659	.	.	ENSG00000126010	ENST00000380289	T	0.37058	1.22	5.72	1.68	0.24146	.	1.831750	0.02098	N	0.053695	T	0.25791	0.0628	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10314	-1.0635	10	0.10902	T	0.67	-8.0E-4	3.8244	0.08848	0.6649:0.1327:0.0724:0.13	.	27	P30550	GRPR_HUMAN	A	27	ENSP00000369643:D27A	ENSP00000369643:D27A	D	+	2	0	GRPR	16052077	0.122000	0.22280	0.001000	0.08648	0.091000	0.18340	1.604000	0.36804	-0.004000	0.14419	0.486000	0.48141	GAT		0.488	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314	
RBBP7	5931	hgsc.bcm.edu	37	X	16870190	16870190	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:16870190C>T	ENST00000380087.2	-	9	1379	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	RBBP7_ENST00000404022.1_Missense_Mutation_p.R331H|RBBP7_ENST00000380084.4_Missense_Mutation_p.R384H			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	340					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)	p.R340H(1)		biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CACATTCAGGCGGCGGTCAGT	0.378																																					p.R384H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1151A	X						.						226.0	193.0	204.0					X																	16870190		2203	4300	6503	16780111	SO:0001583	missense	5931	exon9			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.1019G>A	X.37:g.16870190C>T	ENSP00000369427:p.Arg340His	Somatic		Capture	SOLID	Phase_I	16780111	NM_001198719	Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332239	0.95733	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000444437;ENST00000416035	T;T;T;T;T	0.64085	0.21;0.21;0.21;0.21;-0.08	5.46	5.46	0.80206	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	M	0.76938	2.355	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.935;0.999;0.935	T	0.80594	-0.1313	9	.	.	.	-10.0579	17.4651	0.87630	0.0:1.0:0.0:0.0	.	331;340;384	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	H	340;384;331;144;279	ENSP00000369427:R340H;ENSP00000369424:R384H;ENSP00000386068:R331H;ENSP00000402796:R144H;ENSP00000392714:R279H	.	R	-	2	0	RBBP7	16780111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.039000	0.70972	2.426000	0.82243	0.538000	0.68166	CGC		0.378	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893	
RAI2	10742	hgsc.bcm.edu	37	X	17819894	17819894	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:17819894C>T	ENST00000545871.1	-	3	697	c.237G>A	c.(235-237)caG>caA	p.Q79Q	RAI2_ENST00000360011.1_Silent_p.Q79Q|RAI2_ENST00000331511.1_Silent_p.Q79Q|RAI2_ENST00000451717.1_Silent_p.Q79Q|RAI2_ENST00000415486.3_Intron	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	79					embryo development (GO:0009790)			p.Q79Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGCACAGGGGCTGCAACACAG	0.617																																					p.Q79Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G237A	X						.						67.0	65.0	66.0					X																	17819894		2203	4300	6503	17729815	SO:0001819	synonymous_variant	10742	exon3			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.237G>A	X.37:g.17819894C>T		Somatic		Capture	SOLID	Phase_I	17729815	NM_001172739	B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Silent	SNP	ENST00000545871.1	37	CCDS14183.1																																																																																				0.617	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785	
DMD	1756	hgsc.bcm.edu	37	X	32834689	32834689	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:32834689G>T	ENST00000357033.4	-	6	632	c.426C>A	c.(424-426)agC>agA	p.S142R	DMD_ENST00000378677.2_Missense_Mutation_p.S138R|DMD_ENST00000288447.4_Missense_Mutation_p.S134R	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	142	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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.S137R(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)				GTCGGACCCAGCTCAGGAGAA	0.388																																					p.S142R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C426A	X						.						174.0	149.0	158.0					X																	32834689		2202	4300	6502	32744610	SO:0001583	missense	1756	exon6			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.426C>A	X.37:g.32834689G>T	ENSP00000354923:p.Ser142Arg	Somatic		Capture	SOLID	Phase_I	32744610	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009880	0.75046	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	D;D;D	0.94497	-3.44;-3.44;-3.44	5.51	5.51	0.81932	Calponin homology domain (5);	0.000000	0.44285	U	0.000464	D	0.95749	0.8617	L	0.37897	1.145	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.989;1.0	D;D;D;P;D	0.91635	0.999;0.999;0.994;0.89;0.996	D	0.95973	0.8971	10	0.51188	T	0.08	.	18.4573	0.90725	0.0:0.0:1.0:0.0	.	142;134;134;142;138	F5H6K1;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	R	134;138;142;142;19;134	ENSP00000367948:S138R;ENSP00000354923:S142R;ENSP00000288447:S134R	ENSP00000288447:S134R	S	-	3	2	DMD	32744610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.567000	0.67378	2.300000	0.77407	0.600000	0.82982	AGC		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
UBA1	7317	hgsc.bcm.edu	37	X	47070258	47070258	+	Silent	SNP	G	G	A	rs377475497		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:47070258G>A	ENST00000335972.6	+	19	2400	c.2217G>A	c.(2215-2217)gcG>gcA	p.A739A	UBA1_ENST00000377351.4_Silent_p.A739A|UBA1_ENST00000377269.3_Silent_p.A187A	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	739					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.A739A(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCTCAGGAGCGCCGTTCTGGT	0.542																																					p.A739A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2217A	X						.	G	,	0,3835		0,0,1632,571	104.0	80.0	88.0		2217,2217	-5.4	0.1	X		88	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous	UBA1	NM_003334.3,NM_153280.2	,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,	739/1059,739/1059	47070258	1,10562	2203	4300	6503	46955202	SO:0001819	synonymous_variant	7317	exon19			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2217G>A	X.37:g.47070258G>A		Somatic		Capture	SOLID	Phase_I	46955202	NM_153280	Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	CCDS14275.1																																																																																				0.542	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334	
SSX5	6758	hgsc.bcm.edu	37	X	48054552	48054552	+	Intron	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:48054552T>C	ENST00000376923.1	-	1	69				SSX5_ENST00000347757.1_Intron|SSX5_ENST00000311798.1_Missense_Mutation_p.Q28R			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.Q28R(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GTCACAGACTTGTCTCCAGGG	0.557																																					p.Q28R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A83G	X						.						85.0	76.0	79.0					X																	48054552		2203	4299	6502	47939496	SO:0001627	intron_variant	6758	exon3			BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.69+173A>G	X.37:g.48054552T>C		Somatic		Capture	SOLID	Phase_I	47939496	NM_021015	Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	11.29	1.594709	0.28445	.	.	ENSG00000165583	ENST00000311798	T	0.08896	3.04	1.4	-0.0785	0.13714	.	.	.	.	.	T	0.17195	0.0413	.	.	.	0.09310	N	1	D	0.61080	0.989	D	0.70487	0.969	T	0.14448	-1.0472	8	0.40728	T	0.16	.	3.0184	0.06067	0.3977:0.0:0.0:0.6023	.	28	O60225-2	.	R	28	ENSP00000312415:Q28R	ENSP00000312415:Q28R	Q	-	2	0	SSX5	47939496	0.000000	0.05858	0.001000	0.08648	0.113000	0.19764	-0.549000	0.06041	-0.070000	0.12908	0.143000	0.16000	CAA		0.557	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015	
CACNA1F	778	hgsc.bcm.edu	37	X	49074984	49074984	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:49074984A>G	ENST00000376265.2	-	24	2952	c.2891T>C	c.(2890-2892)gTg>gCg	p.V964A	CACNA1F_ENST00000323022.5_Missense_Mutation_p.V953A|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V899A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	964					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|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.V964A(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AATCTTCACCACCGAGATGGC	0.632																																					p.V964A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2891C	X						.						38.0	34.0	35.0					X																	49074984		2197	4292	6489	48961928	SO:0001583	missense	778	exon24			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2891T>C	X.37:g.49074984A>G	ENSP00000365441:p.Val964Ala	Somatic		Capture	SOLID	Phase_I	48961928	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	24.8	4.567180	0.86439	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98419	-4.92;-4.92;-4.92	5.39	5.39	0.77823	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98353	0.9453	L	0.55481	1.735	0.53688	D	0.99997	D;P	0.71674	0.998;0.951	D;D	0.77557	0.99;0.95	D	0.99201	1.0873	10	0.59425	D	0.04	.	13.4017	0.60887	1.0:0.0:0.0:0.0	.	953;964	F5CIQ9;O60840	.;CAC1F_HUMAN	A	899;953;964	ENSP00000365427:V899A;ENSP00000321618:V953A;ENSP00000365441:V964A	ENSP00000321618:V953A	V	-	2	0	CACNA1F	48961928	1.000000	0.71417	0.910000	0.35882	0.965000	0.64279	9.339000	0.96797	1.807000	0.52817	0.430000	0.28490	GTG		0.632	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
FOXP3	50943	hgsc.bcm.edu	37	X	49110402	49110402	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:49110402T>C	ENST00000376207.4	-	9	1130	c.943A>G	c.(943-945)Agc>Ggc	p.S315G	FOXP3_ENST00000376197.1_Missense_Mutation_p.S265G|FOXP3_ENST00000376199.2_Missense_Mutation_p.S280G|FOXP3_ENST00000557224.1_Missense_Mutation_p.S280G|FOXP3_ENST00000518685.1_Missense_Mutation_p.S280G|FOXP3_ENST00000455775.2_Missense_Mutation_p.S288G	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	315					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S315G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					TTTCCATGGCTACCCCACAGG	0.622																																					p.S315G	GBM(182;1432 2112 16160 23073 31774)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A943G	X						.						75.0	43.0	54.0					X																	49110402		2203	4300	6503	48997346	SO:0001583	missense	50943	exon9				CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.943A>G	X.37:g.49110402T>C	ENSP00000365380:p.Ser315Gly	Somatic		Capture	SOLID	Phase_I	48997346	NM_014009	A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.347871	0.41599	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.97994	-3.69;-3.67;-4.65;-3.67;-4.61;-4.05	5.46	5.46	0.80206	.	0.225856	0.39834	N	0.001247	D	0.94238	0.8150	L	0.31664	0.95	0.28099	N	0.931472	P;P;B;P;P	0.46064	0.489;0.872;0.061;0.55;0.623	B;B;B;B;B	0.40506	0.122;0.331;0.012;0.162;0.242	D	0.90297	0.4327	10	0.38643	T	0.18	.	10.8893	0.46986	0.0:0.0:0.0:1.0	.	288;338;280;315;280	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	G	315;280;280;280;265;288	ENSP00000365380:S315G;ENSP00000365372:S280G;ENSP00000451208:S280G;ENSP00000428952:S280G;ENSP00000365369:S265G;ENSP00000396415:S288G	ENSP00000365369:S265G	S	-	1	0	FOXP3	48997346	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.640000	0.54350	1.841000	0.53522	0.347000	0.21830	AGC		0.622	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009	
MAGED1	9500	hgsc.bcm.edu	37	X	51638175	51638175	+	Silent	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:51638175C>A	ENST00000375722.1	+	3	324	c.72C>A	c.(70-72)gcC>gcA	p.A24A	MAGED1_ENST00000375695.2_Silent_p.A80A|MAGED1_ENST00000375772.3_Silent_p.A24A|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.A24A			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	24					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.A80A(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AAGACAGCGCCTTGCTTATGC	0.582										Multiple Myeloma(10;0.10)																											p.A24A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C72A	X						.						35.0	34.0	34.0					X																	51638175		2203	4300	6503	51654915	SO:0001819	synonymous_variant	9500	exon3			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.72C>A	X.37:g.51638175C>A		Somatic		Capture	SOLID	Phase_I	51654915	NM_006986	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	CCDS14337.1																																																																																				0.582	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332	
MAGED1	9500	hgsc.bcm.edu	37	X	51639966	51639966	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:51639966G>A	ENST00000375722.1	+	4	1467	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P	MAGED1_ENST00000375695.2_Silent_p.P461P|MAGED1_ENST00000375772.3_Silent_p.P405P|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.P405P			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	405	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.P461P(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTGACTGGCCGCTACCACCCG	0.632										Multiple Myeloma(10;0.10)																											p.P405P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1215A	X						.						28.0	19.0	22.0					X																	51639966		2199	4294	6493	51656706	SO:0001819	synonymous_variant	9500	exon4			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1215G>A	X.37:g.51639966G>A		Somatic		Capture	SOLID	Phase_I	51656706	NM_006986	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	CCDS14337.1																																																																																				0.632	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332	
SMC1A	8243	hgsc.bcm.edu	37	X	53409443	53409443	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:53409443C>T	ENST00000322213.4	-	21	3396	c.3269G>A	c.(3268-3270)cGc>cAc	p.R1090H	SMC1A_ENST00000469129.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1090					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.R1090H(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						ACTGCTATTGCGGGACAGGGC	0.522																																					p.R1090H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3269A	X						.						65.0	52.0	56.0					X																	53409443		2203	4300	6503	53426168	SO:0001583	missense	8243	exon21			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.3269G>A	X.37:g.53409443C>T	ENSP00000323421:p.Arg1090His	Somatic		Capture	SOLID	Phase_I	53426168	NM_006306	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856162	0.71834	.	.	ENSG00000072501	ENST00000322213	T	0.78126	-1.15	5.45	4.59	0.56863	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.86326	0.5906	M	0.83384	2.64	0.80722	D	1	D	0.63880	0.993	P	0.59825	0.864	D	0.87970	0.2736	10	0.87932	D	0	.	12.711	0.57089	0.0:0.9163:0.0:0.0837	.	1090	Q14683	SMC1A_HUMAN	H	1090	ENSP00000323421:R1090H	ENSP00000323421:R1090H	R	-	2	0	SMC1A	53426168	1.000000	0.71417	0.980000	0.43619	0.819000	0.46315	7.683000	0.84093	1.196000	0.43129	-0.208000	0.12717	CGC		0.522	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
HUWE1	10075	hgsc.bcm.edu	37	X	53563519	53563519	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:53563519T>C	ENST00000342160.3	-	78	12704	c.12247A>G	c.(12247-12249)Acc>Gcc	p.T4083A	HUWE1_ENST00000262854.6_Missense_Mutation_p.T4083A			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4083	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.T3973A(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCAGGTGAGGTACGGAACAAG	0.507																																					p.T4083A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A12247G	X						.						197.0	159.0	172.0					X																	53563519		2203	4300	6503	53580244	SO:0001583	missense	10075	exon79			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12247A>G	X.37:g.53563519T>C	ENSP00000340648:p.Thr4083Ala	Somatic		Capture	SOLID	Phase_I	53580244	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.18|15.18	2.758436|2.758436	0.49468|0.49468	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.42513|.	0.97;0.97|.	5.5|5.5	5.5|5.5	0.81552|0.81552	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61110|0.61110	0.2321|0.2321	L|L	0.45470|0.45470	1.425|1.425	0.80722|0.80722	D|D	1|1	P;P|.	0.45396|.	0.73;0.857|.	P;P|.	0.58130|.	0.833;0.823|.	T|T	0.58864|0.58864	-0.7561|-0.7561	10|5	0.14656|.	T|.	0.56|.	.|.	13.7361|13.7361	0.62817|0.62817	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	4083;4067|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	A|C	4083|3116;905	ENSP00000340648:T4083A;ENSP00000262854:T4083A|.	ENSP00000262854:T4083A|.	T|Y	-|-	1|2	0|0	HUWE1|HUWE1	53580244|53580244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.435000|7.435000	0.80391|0.80391	1.956000|1.956000	0.56807|0.56807	0.481000|0.481000	0.45027|0.45027	ACC|TAC		0.507	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
HUWE1	10075	hgsc.bcm.edu	37	X	53654789	53654789	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:53654789A>C	ENST00000342160.3	-	15	1741	c.1284T>G	c.(1282-1284)ttT>ttG	p.F428L	HUWE1_ENST00000262854.6_Missense_Mutation_p.F428L|HUWE1_ENST00000218328.8_Missense_Mutation_p.F428L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	428					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.F428L(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCTGGTGACAAATGTTATCT	0.393																																					p.F428L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1284G	X						.						100.0	83.0	89.0					X																	53654789		2203	4300	6503	53671514	SO:0001583	missense	10075	exon16			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1284T>G	X.37:g.53654789A>C	ENSP00000340648:p.Phe428Leu	Somatic		Capture	SOLID	Phase_I	53671514	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	22.9|22.9	4.348862|4.348862	0.82132|0.82132	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000424562|ENST00000342160;ENST00000262854;ENST00000218328;ENST00000396323	.|T;T;T	.|0.63744	.|1.33;1.33;-0.06	4.85|4.85	4.85|4.85	0.62838|0.62838	.|Armadillo-type fold (1);	.|0.381500	.|0.26627	.|N	.|0.023328	T|T	0.64034|0.64034	0.2562|0.2562	M|M	0.74258|0.74258	2.255|2.255	0.52501|0.52501	D|D	0.999957|0.999957	.|P	.|0.34864	.|0.473	.|B	.|0.36608	.|0.229	T|T	0.68477|0.68477	-0.5398|-0.5398	5|10	.|0.72032	.|D	.|0.01	.|.	12.6189|12.6189	0.56592|0.56592	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|428	.|Q7Z6Z7	.|HUWE1_HUMAN	G|L	26|428;428;428;54	.|ENSP00000340648:F428L;ENSP00000262854:F428L;ENSP00000218328:F428L	.|ENSP00000218328:F428L	C|F	-|-	1|3	0|2	HUWE1|HUWE1	53671514|53671514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	4.206000|4.206000	0.58473|0.58473	1.616000|1.616000	0.50265|0.50265	0.438000|0.438000	0.28831|0.28831	TGT|TTT		0.393	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
FAM120C	54954	hgsc.bcm.edu	37	X	54143103	54143103	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:54143103G>A	ENST00000375180.2	-	10	2243	c.2187C>T	c.(2185-2187)ggC>ggT	p.G729G	FAM120C_ENST00000328235.4_Silent_p.G729G	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	729							poly(A) RNA binding (GO:0044822)	p.G729G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAACTGCTTTGCCTAGCCAGA	0.532																																					p.G729G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2187T	X						.						148.0	112.0	124.0					X																	54143103		2203	4300	6503	54159828	SO:0001819	synonymous_variant	54954	exon10			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2187C>T	X.37:g.54143103G>A		Somatic		Capture	SOLID	Phase_I	54159828	NM_017848	B2RMT7	Silent	SNP	ENST00000375180.2	37	CCDS14356.1																																																																																				0.532	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848	
RRAGB	10325	hgsc.bcm.edu	37	X	55779880	55779880	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:55779880A>G	ENST00000262850.7	+	8	1195	c.752A>G	c.(751-753)aAc>aGc	p.N251S	RRAGB_ENST00000374941.4_Missense_Mutation_p.N223S	NM_016656.3	NP_057740.2			Ras-related GTP binding B									p.N251S(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						CTGGAAATGAACCTAAGGAAT	0.388																																					p.N251S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A752G	X						.						138.0	109.0	119.0					X																	55779880		2203	4300	6503	55796605	SO:0001583	missense	10325	exon8			X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.752A>G	X.37:g.55779880A>G	ENSP00000262850:p.Asn251Ser	Somatic		Capture	SOLID	Phase_I	55796605	NM_016656		Missense_Mutation	SNP	ENST00000262850.7	37	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	A	5.270	0.235230	0.09969	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.63744	-0.06;-0.06	4.7	4.7	0.59300	.	0.040543	0.85682	D	0.000000	T	0.38558	0.1045	N	0.10916	0.065	0.54753	D	0.999988	B;B	0.12630	0.006;0.003	B;B	0.14023	0.008;0.01	T	0.24261	-1.0165	10	0.09084	T	0.74	-7.8031	11.5751	0.50856	1.0:0.0:0.0:0.0	.	223;251	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	S	223;185;251	ENSP00000364077:N223S;ENSP00000410630:N185S	ENSP00000262850:N251S	N	+	2	0	RRAGB	55796605	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	8.753000	0.91637	1.810000	0.52873	0.486000	0.48141	AAC		0.388	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656	
KLF8	11279	hgsc.bcm.edu	37	X	56291903	56291903	+	Silent	SNP	G	G	A	rs151194413	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:56291903G>A	ENST00000468660.1	+	3	660	c.372G>A	c.(370-372)acG>acA	p.T124T	KLF8_ENST00000374928.3_Silent_p.T124T	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	124					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.T124T(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						TGGTGTCCACGTCAACATCTG	0.547																																					p.T124T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G372A	X						.	G	,	2,3833		0,1,1,1631,570	110.0	86.0	94.0		372,372	-0.8	0.7	X	dbSNP_134	94	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	KLF8	NM_001159296.1,NM_007250.4	,	0,1,1,4059,2442	AA,AG,A,GG,G		0.0,0.0522,0.0189	,	124/258,124/360	56291903	2,10561	2203	4300	6503	56308628	SO:0001819	synonymous_variant	11279	exon4			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.372G>A	X.37:g.56291903G>A		Somatic		Capture	SOLID	Phase_I	56308628	NM_001159296	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Silent	SNP	ENST00000468660.1	37	CCDS14373.1																																																																																				0.547	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250	
UBQLN2	29978	hgsc.bcm.edu	37	X	56591117	56591117	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:56591117A>G	ENST00000338222.5	+	1	1092	c.811A>G	c.(811-813)Atg>Gtg	p.M271V		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	271					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.M271V(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						TTTACGGCGCATGTACACTGA	0.507																																					p.M271V	Esophageal Squamous(104;218 1492 6022 10838 28884)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A811G	X						.						62.0	60.0	61.0					X																	56591117		2203	4300	6503	56607842	SO:0001583	missense	29978	exon1			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.811A>G	X.37:g.56591117A>G	ENSP00000345195:p.Met271Val	Somatic		Capture	SOLID	Phase_I	56607842	NM_013444	O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.524230	0.27299	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.80304	-1.36	5.05	3.84	0.44239	.	0.000000	0.85682	D	0.000000	D	0.84329	0.5448	M	0.82716	2.605	0.46823	D	0.999214	P;P	0.46220	0.58;0.874	B;P	0.49799	0.397;0.622	D	0.83613	0.0135	10	0.52906	T	0.07	-9.9244	9.2567	0.37588	0.8203:0.1797:0.0:0.0	.	271;271	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	V	271	ENSP00000345195:M271V	ENSP00000345195:M271V	M	+	1	0	UBQLN2	56607842	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.896000	0.75665	0.807000	0.34208	0.486000	0.48141	ATG		0.507	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444	
PDZD11	51248	hgsc.bcm.edu	37	X	69506957	69506957	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:69506957C>T	ENST00000239666.4	-	7	530	c.398G>A	c.(397-399)cGc>cAc	p.R133H	KIF4A_ENST00000374388.3_5'Flank|PDZD11_ENST00000473667.1_5'Flank|PDZD11_ENST00000374454.1_Missense_Mutation_p.R133H|KIF4A_ENST00000374403.3_5'Flank	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	133						basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	protein C-terminus binding (GO:0008022)	p.R133H(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						CTCTTTTTGGCGATGATAATC	0.483																																					p.R133H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G398A	X						.						56.0	46.0	49.0					X																	69506957		2202	4297	6499	69423682	SO:0001583	missense	51248	exon7			AF151061	CCDS14400.1	Xq13.1	2008-02-05		2006-01-24	ENSG00000120509	ENSG00000120509			28034	protein-coding gene	gene with protein product		300632		PDZK11		11042152, 12975309	Standard	NM_016484		Approved		uc004dyd.1	Q5EBL8	OTTHUMG00000021771	ENST00000239666.4:c.398G>A	X.37:g.69506957C>T	ENSP00000239666:p.Arg133His	Somatic		Capture	SOLID	Phase_I	69423682	NM_016484	D3DVU3|Q6UWE1|Q9P0Q1	Missense_Mutation	SNP	ENST00000239666.4	37	CCDS14400.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720743	0.68959	.	.	ENSG00000120509	ENST00000239666;ENST00000374454	T;T	0.41400	1.0;1.0	5.65	5.65	0.86999	.	0.048437	0.85682	D	0.000000	T	0.49813	0.1579	N	0.24115	0.695	0.58432	D	0.999998	D;D	0.76494	0.999;0.983	P;B	0.62014	0.897;0.412	T	0.52968	-0.8504	10	0.72032	D	0.01	.	17.55	0.87873	0.0:1.0:0.0:0.0	.	164;133	Q5EBL8-2;Q5EBL8	.;PDZ11_HUMAN	H	133	ENSP00000239666:R133H;ENSP00000363578:R133H	ENSP00000239666:R133H	R	-	2	0	PDZD11	69423682	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	5.678000	0.68153	2.618000	0.88619	0.600000	0.82982	CGC		0.483	PDZD11-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057060.1	NM_016484	
ERCC6L	54821	hgsc.bcm.edu	37	X	71426757	71426757	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:71426757A>G	ENST00000334463.3	-	2	1995	c.1860T>C	c.(1858-1860)agT>agC	p.S620S	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Silent_p.S497S	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	620	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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.S620S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATTCTTGTTTACTAAAATATC	0.383																																					p.S620S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1860C	X						.						67.0	66.0	66.0					X																	71426757		2203	4300	6503	71343482	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.1860T>C	X.37:g.71426757A>G		Somatic		Capture	SOLID	Phase_I	71343482	NM_017669	Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	37	CCDS35329.1																																																																																				0.383	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669	
KIAA2022	340533	hgsc.bcm.edu	37	X	73960247	73960247	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:73960247T>G	ENST00000055682.6	-	3	4756	c.4145A>C	c.(4144-4146)aAc>aCc	p.N1382T		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1382					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.N1382T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGACCCACTGTTGATCTTTTT	0.448																																					p.N1382T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4145C	X						.						144.0	109.0	121.0					X																	73960247		2203	4300	6503	73876972	SO:0001583	missense	340533	exon3				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4145A>C	X.37:g.73960247T>G	ENSP00000055682:p.Asn1382Thr	Somatic		Capture	SOLID	Phase_I	73876972	NM_001008537	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	5.885	0.347442	0.11126	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.33438	1.41;1.41	5.36	0.216	0.15258	.	0.304016	0.40222	N	0.001151	T	0.14960	0.0361	N	0.19112	0.55	0.28503	N	0.91391	B	0.10296	0.003	B	0.09377	0.004	T	0.15694	-1.0428	10	0.23891	T	0.37	-5.51	6.3015	0.21115	0.0:0.1251:0.2492:0.6257	.	1382	Q5QGS0	K2022_HUMAN	T	1382	ENSP00000362567:N1382T;ENSP00000055682:N1382T	ENSP00000055682:N1382T	N	-	2	0	KIAA2022	73876972	0.995000	0.38212	0.943000	0.38184	0.986000	0.74619	1.383000	0.34385	0.176000	0.19873	0.441000	0.28932	AAC		0.448	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
CYSLTR1	10800	hgsc.bcm.edu	37	X	77529090	77529090	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:77529090A>G	ENST00000373304.3	-	3	446	c.154T>C	c.(154-156)Tat>Cat	p.Y52H		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	52					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)	p.Y52H(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TTCTTGTGATAGGTTTTTATG	0.413																																					p.Y52H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T154C	X						.						110.0	91.0	98.0					X																	77529090		2203	4300	6503	77415746	SO:0001583	missense	10800	exon3			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.154T>C	X.37:g.77529090A>G	ENSP00000362401:p.Tyr52His	Somatic		Capture	SOLID	Phase_I	77415746	NM_006639	B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	a	12.64	1.998392	0.35226	.	.	ENSG00000173198	ENST00000373304	T	0.36520	1.25	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.615529	0.17263	N	0.180690	T	0.38480	0.1042	N	0.20574	0.59	0.25619	N	0.986421	D	0.65815	0.995	D	0.63283	0.913	T	0.16247	-1.0409	10	0.22109	T	0.4	.	10.9063	0.47081	1.0:0.0:0.0:0.0	.	52	Q9Y271	CLTR1_HUMAN	H	52	ENSP00000362401:Y52H	ENSP00000362401:Y52H	Y	-	1	0	CYSLTR1	77415746	0.997000	0.39634	0.997000	0.53966	0.701000	0.40568	4.322000	0.59215	1.467000	0.48044	0.368000	0.22195	TAT		0.413	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1		
BRWD3	254065	hgsc.bcm.edu	37	X	79938013	79938013	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:79938013T>G	ENST00000373275.4	-	38	4564	c.4348A>C	c.(4348-4350)Aaa>Caa	p.K1450Q	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1450					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.K1450Q(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTTAGACGTTTTCTGTACCGT	0.378																																					p.K1450Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4348C	X						.						304.0	238.0	260.0					X																	79938013		2203	4300	6503	79824669	SO:0001583	missense	254065	exon38				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4348A>C	X.37:g.79938013T>G	ENSP00000362372:p.Lys1450Gln	Somatic		Capture	SOLID	Phase_I	79824669	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.821289	0.50633	.	.	ENSG00000165288	ENST00000373275	T	0.56103	0.48	4.82	4.82	0.62117	.	0.259610	0.44483	D	0.000454	T	0.40979	0.1139	L	0.38175	1.15	0.28743	N	0.901874	B	0.33694	0.421	B	0.29942	0.109	T	0.34750	-0.9816	9	.	.	.	-19.2594	13.5846	0.61921	0.0:0.0:0.0:1.0	.	1450	Q6RI45	BRWD3_HUMAN	Q	1450	ENSP00000362372:K1450Q	.	K	-	1	0	BRWD3	79824669	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.662000	0.46766	1.780000	0.52325	0.339000	0.21740	AAA		0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
HDX	139324	hgsc.bcm.edu	37	X	83723566	83723566	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:83723566T>C	ENST00000297977.5	-	3	1276	c.1165A>G	c.(1165-1167)Aat>Gat	p.N389D	HDX_ENST00000373177.2_Missense_Mutation_p.N389D|HDX_ENST00000506585.2_Missense_Mutation_p.N331D	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	389						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N389D(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGATTGGTATTACTGTACATT	0.333																																					p.N389D	Pancreas(53;231 1169 36156 43751 51139)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1165G	X						.						156.0	128.0	138.0					X																	83723566		2203	4300	6503	83610222	SO:0001583	missense	139324	exon4			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1165A>G	X.37:g.83723566T>C	ENSP00000297977:p.Asn389Asp	Somatic		Capture	SOLID	Phase_I	83610222	NM_001177479	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	T	5.524	0.281535	0.10458	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.30714	1.53;1.52;1.53	5.19	4.03	0.46877	.	0.451841	0.25076	N	0.033339	T	0.20373	0.0490	L	0.36672	1.1	0.24470	N	0.994395	B	0.16166	0.016	B	0.14578	0.011	T	0.09015	-1.0694	10	0.34782	T	0.22	-35.9951	4.8693	0.13624	0.0:0.1634:0.1597:0.6769	.	389	Q7Z353	HDX_HUMAN	D	389;331;389	ENSP00000297977:N389D;ENSP00000362272:N331D;ENSP00000423670:N389D	ENSP00000297977:N389D	N	-	1	0	HDX	83610222	1.000000	0.71417	0.999000	0.59377	0.500000	0.33767	2.070000	0.41491	1.719000	0.51432	0.339000	0.21740	AAT		0.333	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657	
ZNF711	7552	hgsc.bcm.edu	37	X	84526266	84526266	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:84526266A>G	ENST00000373165.3	+	9	2024	c.1718A>G	c.(1717-1719)gAt>gGt	p.D573G	ZNF711_ENST00000542798.1_Missense_Mutation_p.D415G|ZNF711_ENST00000276123.3_Missense_Mutation_p.D573G|ZNF711_ENST00000395402.1_Missense_Mutation_p.D581G|ZNF711_ENST00000360700.4_Missense_Mutation_p.D619G	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	573					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.D583G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GCATTTGGTGATGAGAGGGAG	0.408																																					p.D573G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1718G	X						.						73.0	58.0	63.0					X																	84526266		2201	4298	6499	84412922	SO:0001583	missense	7552	exon9			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1718A>G	X.37:g.84526266A>G	ENSP00000362260:p.Asp573Gly	Somatic		Capture	SOLID	Phase_I	84412922	NM_021998	B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.344519	0.41498	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.19	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.45126	D	0.000394	T	0.21062	0.0507	L	0.49513	1.565	0.50632	D	0.99988	B;P	0.38711	0.328;0.643	B;B	0.43889	0.221;0.435	T	0.02087	-1.1216	10	0.54805	T	0.06	-11.1788	10.972	0.47444	0.8459:0.1541:0.0:0.0	.	619;573	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	G	581;573;573;619;415	ENSP00000378798:D581G;ENSP00000362260:D573G;ENSP00000276123:D573G;ENSP00000353922:D619G;ENSP00000442071:D415G	ENSP00000276123:D573G	D	+	2	0	ZNF711	84412922	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.396000	0.79891	1.740000	0.51718	0.417000	0.27973	GAT		0.408	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998	
PABPC5	140886	hgsc.bcm.edu	37	X	90690879	90690879	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:90690879A>G	ENST00000312600.3	+	2	517	c.303A>G	c.(301-303)agA>agG	p.R101R	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	101						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R101R(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ACCGCTTAAGAAAGTCTGGAG	0.423																																					p.R101R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A303G	X						.						55.0	51.0	52.0					X																	90690879		2203	4300	6503	90577535	SO:0001819	synonymous_variant	140886	exon2			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.303A>G	X.37:g.90690879A>G		Somatic		Capture	SOLID	Phase_I	90577535	NM_080832	A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	ENST00000312600.3	37	CCDS14460.1																																																																																				0.423	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832	
TSPAN6	7105	hgsc.bcm.edu	37	X	99890588	99890588	+	Silent	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:99890588A>C	ENST00000373020.4	-	2	354	c.243T>G	c.(241-243)gcT>gcG	p.A81A	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	81					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.A81A(1)		endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						CTCGGCAGGTAGCAAAACAAC	0.388																																					p.A81A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T243G	X						.						49.0	40.0	43.0					X																	99890588		2203	4300	6503	99777244	SO:0001819	synonymous_variant	7105	exon2			AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"""Tetraspanins"""	11858	protein-coding gene	gene with protein product		300191	"""transmembrane 4 superfamily member 6"""	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.243T>G	X.37:g.99890588A>C		Somatic		Capture	SOLID	Phase_I	99777244	NM_003270	Q54A42|Q6IAN9	Silent	SNP	ENST00000373020.4	37	CCDS14470.1																																																																																				0.388	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1		
SYTL4	94121	hgsc.bcm.edu	37	X	99936280	99936280	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:99936280A>C	ENST00000372989.1	-	16	1833	c.1502T>G	c.(1501-1503)gTt>gGt	p.V501G	SYTL4_ENST00000454200.2_Missense_Mutation_p.V503G|SYTL4_ENST00000455616.1_Missense_Mutation_p.V501G|SYTL4_ENST00000263033.5_Missense_Mutation_p.V501G|SYTL4_ENST00000276141.6_Missense_Mutation_p.V501G|SYTL4_ENST00000491602.1_5'Flank	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	501					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.V501G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTTCAATGAAACCACCAACTC	0.493																																					p.V501G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1502G	X						.						82.0	68.0	73.0					X																	99936280		2203	4300	6503	99822936	SO:0001583	missense	94121	exon15				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1502T>G	X.37:g.99936280A>C	ENSP00000362080:p.Val501Gly	Somatic		Capture	SOLID	Phase_I	99822936	NM_001129896	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385555	0.82792	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0	5.07	5.07	0.68467	C2 calcium/lipid-binding domain, CaLB (1);	0.054266	0.64402	D	0.000001	T	0.30293	0.0760	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.01528	-1.1332	9	.	.	.	-15.2173	13.9971	0.64409	1.0:0.0:0.0:0.0	.	501	Q96C24	SYTL4_HUMAN	G	501;501;503;501;501	ENSP00000362080:V501G;ENSP00000390252:V501G;ENSP00000403556:V503G;ENSP00000276141:V501G;ENSP00000263033:V501G	.	V	-	2	0	SYTL4	99822936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.083000	0.89515	1.880000	0.54463	0.430000	0.28490	GTT		0.493	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737	
DKC1	1736	hgsc.bcm.edu	37	X	153994226	153994226	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chrX:153994226T>C	ENST00000369550.5	+	4	426	c.216T>C	c.(214-216)ctT>ctC	p.L72L	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	72			L -> F (in DKCX; dbSNP:rs121912306). {ECO:0000269|PubMed:17417794}.|L -> Y (in DKCX; requires 2 nucleotide substitutions; dbSNP:rs121912294). {ECO:0000269|PubMed:9590285}.		cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)	p.L72L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATACACCTCTTGCATGTGGTT	0.388									Congenital Dyskeratosis																												p.L72L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T216C	X						.						177.0	151.0	160.0					X																	153994226		2203	4300	6503	153647420	SO:0001819	synonymous_variant	1736	exon4	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.216T>C	X.37:g.153994226T>C		Somatic		Capture	SOLID	Phase_I	153647420	NM_001363	F5BSB3|O43845|Q96G67|Q9Y505	Silent	SNP	ENST00000369550.5	37	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	T	9.295	1.051701	0.19827	.	.	ENSG00000130826	ENST00000437719	.	.	.	5.88	4.71	0.59529	.	.	.	.	.	T	0.59432	0.2193	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58002	-0.7713	4	.	.	.	-13.6741	8.6241	0.33879	0.0:0.1516:0.0:0.8484	.	.	.	.	R	58	.	.	C	+	1	0	DKC1	153647420	0.997000	0.39634	1.000000	0.80357	0.799000	0.45148	0.376000	0.20535	1.987000	0.57996	0.486000	0.48141	TGC		0.388	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363	
GCC2	9648	hgsc.bcm.edu	37	2	109098745	109098745	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:109098745T>C	ENST00000309863.6	+	11	3897	c.3183T>C	c.(3181-3183)tgT>tgC	p.C1061C		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1061					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.C1061C(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CATTTCAGTGTGAAACAATAA	0.328																																					p.C1061C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3183C	2						.						69.0	69.0	69.0					2																	109098745		2203	4297	6500	108465177	SO:0001819	synonymous_variant	9648	exon11			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3183T>C	2.37:g.109098745T>C		Somatic		Capture	SOLID	Phase_I	108465177	NM_181453	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	CCDS33268.1																																																																																				0.328	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
MERTK	10461	hgsc.bcm.edu	37	2	112786400	112786400	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:112786400T>C	ENST00000295408.4	+	19	3216	c.2959T>C	c.(2959-2961)Ttt>Ctt	p.F987L	MERTK_ENST00000409780.1_Missense_Mutation_p.F811L|MERTK_ENST00000421804.2_Missense_Mutation_p.F987L			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	987					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F987L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGAACTTTTGTTTGCTGACGA	0.512																																					p.F987L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2959C	2						.						50.0	51.0	51.0					2																	112786400		2203	4300	6503	112502871	SO:0001583	missense	10461	exon19			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2959T>C	2.37:g.112786400T>C	ENSP00000295408:p.Phe987Leu	Somatic		Capture	SOLID	Phase_I	112502871	NM_006343	Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799850	0.50208	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.74842	-0.88;-0.88;-0.82	5.8	5.8	0.92144	.	0.257408	0.20568	U	0.089788	T	0.72260	0.3438	L	0.57536	1.79	0.36438	D	0.865293	B	0.09022	0.002	B	0.08055	0.003	T	0.72421	-0.4299	10	0.46703	T	0.11	-12.4603	15.7999	0.78447	0.0:0.0:0.0:1.0	.	987	Q12866	MERTK_HUMAN	L	987;987;811	ENSP00000295408:F987L;ENSP00000389152:F987L;ENSP00000387277:F811L	ENSP00000295408:F987L	F	+	1	0	MERTK	112502871	1.000000	0.71417	0.877000	0.34402	0.219000	0.24729	5.083000	0.64456	2.205000	0.71048	0.533000	0.62120	TTT		0.512	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		
POLR1B	84172	hgsc.bcm.edu	37	2	113330247	113330247	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:113330247A>G	ENST00000263331.5	+	13	2763	c.2183A>G	c.(2182-2184)gAt>gGt	p.D728G	POLR1B_ENST00000537335.1_Missense_Mutation_p.D517G|POLR1B_ENST00000541869.1_Missense_Mutation_p.D766G|POLR1B_ENST00000417433.2_Missense_Mutation_p.D672G|POLR1B_ENST00000409894.3_Missense_Mutation_p.D545G	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	728					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.D728G(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCCATGTATGATTATTATGAC	0.428																																					p.D672G	Ovarian(16;256 576 9537 23969 41147)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2015G	2						.						155.0	146.0	149.0					2																	113330247		2203	4300	6503	113046718	SO:0001583	missense	84172	exon12			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.2183A>G	2.37:g.113330247A>G	ENSP00000263331:p.Asp728Gly	Somatic		Capture	SOLID	Phase_I	113046718	NM_001137604	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.519391	0.85495	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000458012;ENST00000536096	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.2	5.2	0.72013	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.88198	0.6372	M	0.82517	2.595	0.80722	D	1	D;D;B;D	0.76494	0.997;0.996;0.327;0.999	D;D;B;D	0.79784	0.962;0.993;0.264;0.984	D	0.89650	0.3869	10	0.62326	D	0.03	-22.0349	14.0459	0.64704	1.0:0.0:0.0:0.0	.	766;545;672;728	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	G	728;766;545;517;672;113;87	ENSP00000263331:D728G;ENSP00000444136:D766G;ENSP00000387143:D545G;ENSP00000437914:D517G;ENSP00000405358:D672G;ENSP00000394408:D113G	ENSP00000263331:D728G	D	+	2	0	POLR1B	113046718	1.000000	0.71417	0.980000	0.43619	0.977000	0.68977	8.876000	0.92379	1.950000	0.56595	0.460000	0.39030	GAT		0.428	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014	
POLR1B	84172	hgsc.bcm.edu	37	2	113333217	113333217	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:113333217A>G	ENST00000263331.5	+	15	3899	c.3319A>G	c.(3319-3321)Atc>Gtc	p.I1107V	POLR1B_ENST00000537335.1_Missense_Mutation_p.I896V|POLR1B_ENST00000541869.1_Missense_Mutation_p.I1145V|POLR1B_ENST00000417433.2_Missense_Mutation_p.I1051V|POLR1B_ENST00000409894.3_Missense_Mutation_p.I924V	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1107					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.I1107V(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CAGTGACACTATCGATACTGT	0.433																																					p.I1051V	Ovarian(16;256 576 9537 23969 41147)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3151G	2						.						137.0	120.0	126.0					2																	113333217		2203	4300	6503	113049688	SO:0001583	missense	84172	exon14			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3319A>G	2.37:g.113333217A>G	ENSP00000263331:p.Ile1107Val	Somatic		Capture	SOLID	Phase_I	113049688	NM_001137604	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	A	0.530	-0.858214	0.02610	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.37	4.22	0.49857	RNA polymerase Rpb2, domain 7 (1);	0.209080	0.50627	N	0.000108	T	0.55737	0.1939	N	0.12443	0.215	0.27616	N	0.9485	B;B;B;B	0.10296	0.002;0.001;0.0;0.003	B;B;B;B	0.16289	0.009;0.002;0.005;0.015	T	0.39840	-0.9594	10	0.16420	T	0.52	-23.5163	6.7014	0.23227	0.7477:0.0:0.2523:0.0	.	1145;924;1051;1107	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	V	1107;1145;924;896;1051	ENSP00000263331:I1107V;ENSP00000444136:I1145V;ENSP00000387143:I924V;ENSP00000437914:I896V;ENSP00000405358:I1051V	ENSP00000263331:I1107V	I	+	1	0	POLR1B	113049688	0.997000	0.39634	0.734000	0.30879	0.980000	0.70556	3.383000	0.52471	0.883000	0.36040	-0.385000	0.06624	ATC		0.433	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014	
NTSR2	23620	hgsc.bcm.edu	37	2	11798828	11798828	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:11798828T>C	ENST00000306928.5	-	4	1044	c.1010A>G	c.(1009-1011)cAc>cGc	p.H337R		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	337					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.H337R(1)		breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GTAGAAGTAGTGGTAGAAATT	0.512																																					p.H337R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1010G	2						.						96.0	96.0	96.0					2																	11798828		2203	4300	6503	11716279	SO:0001583	missense	23620	exon4			Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.1010A>G	2.37:g.11798828T>C	ENSP00000303686:p.His337Arg	Somatic		Capture	SOLID	Phase_I	11716279	NM_012344	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938594	0.73557	.	.	ENSG00000169006	ENST00000306928	T	0.71222	-0.55	4.22	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.105569	0.41396	D	0.000899	T	0.75917	0.3915	L	0.43152	1.355	0.45318	D	0.998312	D	0.76494	0.999	D	0.91635	0.999	T	0.71968	-0.4432	10	0.23302	T	0.38	-33.2615	11.8457	0.52383	0.0:0.0:0.0:1.0	.	337	O95665	NTR2_HUMAN	R	337	ENSP00000303686:H337R	ENSP00000303686:H337R	H	-	2	0	NTSR2	11716279	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.868000	0.75516	1.836000	0.53414	0.528000	0.53228	CAC		0.512	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1		
IL36RN	26525	hgsc.bcm.edu	37	2	113819745	113819745	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:113819745C>A	ENST00000393200.2	+	4	321	c.160C>A	c.(160-162)Ctg>Atg	p.L54M	IL36RN_ENST00000346807.3_Missense_Mutation_p.L54M	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	54					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)	p.L54M(1)		large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGATGCCAGCCTGTCCCCCGT	0.617																																					p.L54M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C160A	2						.						62.0	58.0	59.0					2																	113819745		2203	4300	6503	113536216	SO:0001583	missense	26525	exon4			AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"""Interleukins and interleukin receptors"""	15561	protein-coding gene	gene with protein product	"""family of interleukin 1-delta"", ""interleukin-1 receptor antagonist homolog 1"", ""interleukin-1 HY1"", ""IL-1 related protein 3"""	605507	"""interleukin 1 family, member 5 (delta)"""	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.160C>A	2.37:g.113819745C>A	ENSP00000376896:p.Leu54Met	Somatic		Capture	SOLID	Phase_I	113536216	NM_012275	A8K2I4|Q56AT9|Q7RTZ6	Missense_Mutation	SNP	ENST00000393200.2	37	CCDS2111.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465279	0.43839	.	.	ENSG00000136695	ENST00000346807;ENST00000393200;ENST00000437409	T;T;T	0.77750	-1.12;-1.12;-1.12	5.36	3.57	0.40892	.	0.544303	0.19511	N	0.112506	T	0.77994	0.4214	L	0.51422	1.61	0.09310	N	1	P	0.43392	0.805	P	0.51777	0.679	T	0.67067	-0.5764	10	0.46703	T	0.11	-13.0386	7.9465	0.29989	0.0:0.8118:0.0:0.1882	.	54	Q9UBH0	I36RA_HUMAN	M	54	ENSP00000259212:L54M;ENSP00000376896:L54M;ENSP00000409262:L54M	ENSP00000259212:L54M	L	+	1	2	IL36RN	113536216	0.000000	0.05858	0.091000	0.20842	0.946000	0.59487	0.350000	0.20079	0.646000	0.30693	0.655000	0.94253	CTG		0.617	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330729.1	NM_173170	
MARCO	8685	hgsc.bcm.edu	37	2	119750834	119750834	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:119750834C>T	ENST00000327097.4	+	16	1522	c.1387C>T	c.(1387-1389)Ctg>Ttg	p.L463L	MARCO_ENST00000541757.1_Silent_p.L385L	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	463	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.L463L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CTGCCGCATGCTGGGTTACTC	0.542																																					p.L463L	GBM(8;18 374 7467 11269 32796)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1387T	2						.						145.0	142.0	143.0					2																	119750834		2203	4300	6503	119467304	SO:0001819	synonymous_variant	8685	exon16			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1387C>T	2.37:g.119750834C>T		Somatic		Capture	SOLID	Phase_I	119467304	NM_006770	B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	CCDS2124.1																																																																																				0.542	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	
POLR2D	5433	hgsc.bcm.edu	37	2	128610554	128610554	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:128610554A>G	ENST00000272645.4	-	2	255	c.199T>C	c.(199-201)Tac>Cac	p.Y67H	POLR2D_ENST00000487079.1_Intron|POLR2D_ENST00000409698.1_Missense_Mutation_p.Y29H|POLR2D_ENST00000409955.1_Missense_Mutation_p.Y67H	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	67					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus in response to heat stress (GO:0031990)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleotide-excision repair (GO:0006289)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex (GO:0034402)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)|translation initiation factor binding (GO:0031369)	p.Y67H(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		CGGGCTGTGTAGTTTAATGTT	0.403																																					p.Y67H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T199C	2						.						171.0	166.0	168.0					2																	128610554		2203	4300	6503	128327024	SO:0001583	missense	5433	exon2			U85510	CCDS2151.1	2q21	2013-01-21			ENSG00000144231	ENSG00000144231		"""RNA polymerase subunits"""	9191	protein-coding gene	gene with protein product	"""RNA polymerase II subunit hsRBP4"""	606017				9528765	Standard	NM_004805		Approved	RBP4	uc002tpj.3	O15514	OTTHUMG00000131531	ENST00000272645.4:c.199T>C	2.37:g.128610554A>G	ENSP00000272645:p.Tyr67His	Somatic		Capture	SOLID	Phase_I	128327024	NM_004805	Q52LT4	Missense_Mutation	SNP	ENST00000272645.4	37	CCDS2151.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513268	0.64522	.	.	ENSG00000144231	ENST00000272645;ENST00000409955;ENST00000409698	.	.	.	5.43	5.43	0.79202	HRDC-like (1);RNA polymerase II, Rpb4, core (1);	0.000000	0.85682	D	0.000000	T	0.78622	0.4312	M	0.79926	2.475	0.80722	D	1	B;P	0.50710	0.012;0.938	B;P	0.62435	0.033;0.902	T	0.81276	-0.1006	9	0.59425	D	0.04	-15.9369	15.4867	0.75573	1.0:0.0:0.0:0.0	.	67;67	E9PHV4;O15514	.;RPB4_HUMAN	H	67;67;29	.	ENSP00000272645:Y67H	Y	-	1	0	POLR2D	128327024	1.000000	0.71417	0.948000	0.38648	0.201000	0.24016	9.301000	0.96167	2.057000	0.61298	0.454000	0.30748	TAC		0.403	POLR2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254388.3	NM_004805	
MAP3K19	80122	hgsc.bcm.edu	37	2	135744690	135744690	+	Silent	SNP	A	A	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:135744690A>T	ENST00000375845.3	-	7	1782	c.1752T>A	c.(1750-1752)ccT>ccA	p.P584P	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_De_novo_Start_InFrame|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.P601P|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.P471P	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	584							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P584P(1)									GCAATTGCCAAGGCCTGGGGT	0.423																																					p.P584P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1752A	2						.						82.0	88.0	86.0					2																	135744690		2203	4300	6503	135461160	SO:0001819	synonymous_variant	80122	exon7			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1752T>A	2.37:g.135744690A>T		Somatic		Capture	SOLID	Phase_I	135461160	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	CCDS2176.2																																																																																				0.423	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
LCT	3938	hgsc.bcm.edu	37	2	136566255	136566255	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:136566255A>G	ENST00000264162.2	-	8	3672	c.3662T>C	c.(3661-3663)cTa>cCa	p.L1221P	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1221	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.L1221P(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)	GGGTGGGTTTAGCCTGGGTGT	0.587																																					p.L1221P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3662C	2						.						175.0	153.0	160.0					2																	136566255		2203	4300	6503	136282725	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.3662T>C	2.37:g.136566255A>G	ENSP00000264162:p.Leu1221Pro	Somatic		Capture	SOLID	Phase_I	136282725	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779304	0.31502	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.32753	1.44	5.65	5.65	0.86999	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.127450	0.53938	D	0.000050	T	0.40094	0.1103	N	0.15975	0.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45804	-0.9236	10	0.66056	D	0.02	-12.315	15.8743	0.79151	1.0:0.0:0.0:0.0	.	1221	P09848	LPH_HUMAN	P	1221;653	ENSP00000264162:L1221P	ENSP00000264162:L1221P	L	-	2	0	LCT	136282725	1.000000	0.71417	0.188000	0.23233	0.076000	0.17211	9.339000	0.96797	2.140000	0.66376	0.460000	0.39030	CTA		0.587	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LCT	3938	hgsc.bcm.edu	37	2	136567138	136567138	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:136567138T>C	ENST00000264162.2	-	8	2789	c.2779A>G	c.(2779-2781)Aaa>Gaa	p.K927E	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	927	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.K927E(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)	CTGGGGCCTTTGCCATCGGCA	0.537																																					p.K927E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2779G	2						.						74.0	75.0	74.0					2																	136567138		2203	4300	6503	136283608	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.2779A>G	2.37:g.136567138T>C	ENSP00000264162:p.Lys927Glu	Somatic		Capture	SOLID	Phase_I	136283608	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370895	0.82573	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.41758	0.99	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.079174	0.85682	D	0.000000	T	0.74604	0.3738	H	0.94847	3.59	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.82617	-0.0369	10	0.87932	D	0	-24.5381	16.1146	0.81295	0.0:0.0:0.0:1.0	.	927	P09848	LPH_HUMAN	E	927;359	ENSP00000264162:K927E	ENSP00000264162:K927E	K	-	1	0	LCT	136283608	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	8.040000	0.89188	2.200000	0.70718	0.460000	0.39030	AAA		0.537	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LCT	3938	hgsc.bcm.edu	37	2	136570465	136570465	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:136570465C>T	ENST00000264162.2	-	7	1779	c.1769G>A	c.(1768-1770)cGc>cAc	p.R590H	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	590	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.R590H(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)	CTGCTGTGGGCGATGATGGCT	0.537																																					p.R590H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1769A	2						.						52.0	47.0	48.0					2																	136570465		2203	4300	6503	136286935	SO:0001583	missense	3938	exon7			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.1769G>A	2.37:g.136570465C>T	ENSP00000264162:p.Arg590His	Somatic		Capture	SOLID	Phase_I	136286935	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006580	0.74932	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.53640	0.61	5.49	5.49	0.81192	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.051365	0.85682	D	0.000000	T	0.72875	0.3515	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75031	-0.3461	10	0.52906	T	0.07	-21.3824	19.3929	0.94592	0.0:1.0:0.0:0.0	.	590	P09848	LPH_HUMAN	H	590;22	ENSP00000264162:R590H	ENSP00000264162:R590H	R	-	2	0	LCT	136286935	1.000000	0.71417	0.498000	0.27564	0.226000	0.24999	7.818000	0.86416	2.583000	0.87209	0.655000	0.94253	CGC		0.537	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LRP1B	53353	hgsc.bcm.edu	37	2	141359074	141359074	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:141359074T>C	ENST00000389484.3	-	42	7905	c.6934A>G	c.(6934-6936)Atc>Gtc	p.I2312V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2312					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.I2312V(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)		GACATGGTGATGACAGCTTCC	0.448										TSP Lung(27;0.18)																											p.I2312V	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6934G	2						.						162.0	134.0	143.0					2																	141359074		2203	4300	6503	141075544	SO:0001583	missense	53353	exon42			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.6934A>G	2.37:g.141359074T>C	ENSP00000374135:p.Ile2312Val	Somatic		Capture	SOLID	Phase_I	141075544	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.260227	0.23051	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89123	-2.47	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.148218	0.46145	D	0.000319	T	0.74458	0.3719	N	0.05078	-0.115	0.34973	D	0.753337	B	0.17465	0.022	B	0.09377	0.004	T	0.71126	-0.4683	10	0.02654	T	1	.	15.0609	0.71951	0.0:0.0:0.0:1.0	.	2312	Q9NZR2	LRP1B_HUMAN	V	2312;2250	ENSP00000374135:I2312V	ENSP00000374135:I2312V	I	-	1	0	LRP1B	141075544	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.001000	0.70685	2.015000	0.59207	0.459000	0.35465	ATC		0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	hgsc.bcm.edu	37	2	141986891	141986891	+	Silent	SNP	A	A	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:141986891A>T	ENST00000389484.3	-	6	1682	c.711T>A	c.(709-711)acT>acA	p.T237T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	237					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.T237T(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)		TAAAATCCAGAGTATGAATTT	0.289										TSP Lung(27;0.18)																											p.T237T	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T711A	2						.						56.0	58.0	57.0					2																	141986891		2200	4296	6496	141703361	SO:0001819	synonymous_variant	53353	exon6			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.711T>A	2.37:g.141986891A>T		Somatic		Capture	SOLID	Phase_I	141703361	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
KCNJ3	3760	hgsc.bcm.edu	37	2	155711678	155711678	+	Silent	SNP	T	T	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:155711678T>A	ENST00000295101.2	+	3	1836	c.1359T>A	c.(1357-1359)tcT>tcA	p.S453S		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	453					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.S453S(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AACTGGTATCTAAAACCACCA	0.458																																					p.S453S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1359A	2						.						51.0	54.0	53.0					2																	155711678		2203	4300	6503	155419924	SO:0001819	synonymous_variant	3760	exon3			U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1359T>A	2.37:g.155711678T>A		Somatic		Capture	SOLID	Phase_I	155419924	NM_002239	B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	CCDS2200.1																																																																																				0.458	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239	
NR4A2	4929	hgsc.bcm.edu	37	2	157186376	157186376	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:157186376G>A	ENST00000339562.4	-	3	685	c.323C>T	c.(322-324)cCc>cTc	p.P108L	NR4A2_ENST00000409108.2_Missense_Mutation_p.P108L|NR4A2_ENST00000426264.1_Missense_Mutation_p.P45L|NR4A2_ENST00000429376.1_Missense_Mutation_p.P45L|NR4A2_ENST00000539077.1_Missense_Mutation_p.P119L|NR4A2_ENST00000409572.1_Missense_Mutation_p.P108L	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	108	Gln-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.P108H(1)|p.P108L(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTCAGACTGGGGGGGCAGGTG	0.612																																					p.P108L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C323T	2						.						85.0	84.0	85.0					2																	157186376		2203	4300	6503	156894622	SO:0001583	missense	4929	exon3			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.323C>T	2.37:g.157186376G>A	ENSP00000344479:p.Pro108Leu	Somatic		Capture	SOLID	Phase_I	156894622	NM_006186	Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100023	0.56183	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077;ENST00000421709	D;D;D;D;D;D;T;D	0.92752	-2.87;-2.9;-2.87;-2.88;-3.1;-3.05;-1.34;-2.2	5.94	5.94	0.96194	.	.	.	.	.	D	0.91005	0.7171	L	0.55990	1.75	0.80722	D	1	B	0.32051	0.354	B	0.30716	0.119	D	0.89465	0.3739	9	0.87932	D	0	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	108	P43354	NR4A2_HUMAN	L	108;45;108;119;108;45;108;45	ENSP00000344479:P108L;ENSP00000389986:P45L;ENSP00000386747:P108L;ENSP00000444925:P119L;ENSP00000386993:P108L;ENSP00000410952:P45L;ENSP00000406808:P108L;ENSP00000388120:P45L	ENSP00000344479:P108L	P	-	2	0	NR4A2	156894622	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	CCC		0.612	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2		
WDSUB1	151525	hgsc.bcm.edu	37	2	160116331	160116331	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:160116331A>G	ENST00000409990.3	-	6	1050	c.794T>C	c.(793-795)gTa>gCa	p.V265A	WDSUB1_ENST00000409124.1_Missense_Mutation_p.V265A|WDSUB1_ENST00000358147.4_Intron|WDSUB1_ENST00000392796.3_Missense_Mutation_p.V265A|WDSUB1_ENST00000359774.4_Missense_Mutation_p.V265A	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	265							ubiquitin-protein transferase activity (GO:0004842)	p.V265A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						AGTATCATATACTATGACAGA	0.264																																					p.V265A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T794C	2						.						21.0	22.0	22.0					2																	160116331		2164	4244	6408	159824577	SO:0001583	missense	151525	exon6			AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.794T>C	2.37:g.160116331A>G	ENSP00000387078:p.Val265Ala	Somatic		Capture	SOLID	Phase_I	159824577	NM_152528	Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352118	0.61183	.	.	ENSG00000196151	ENST00000359774;ENST00000392796;ENST00000409990;ENST00000409124	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.338199	0.33813	N	0.004526	T	0.67636	0.2914	M	0.82823	2.61	0.34451	D	0.700711	B;P	0.41131	0.296;0.739	B;B	0.38985	0.205;0.287	T	0.81745	-0.0792	10	0.87932	D	0	.	16.1324	0.81449	1.0:0.0:0.0:0.0	.	265;265	B8ZZF2;Q8N9V3	.;WSDU1_HUMAN	A	265	ENSP00000352820:V265A;ENSP00000376545:V265A;ENSP00000387078:V265A;ENSP00000386891:V265A	ENSP00000352820:V265A	V	-	2	0	WDSUB1	159824577	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.780000	0.75063	2.261000	0.74972	0.477000	0.44152	GTA		0.264	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528	
SCN2A	6326	hgsc.bcm.edu	37	2	166223817	166223817	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:166223817T>C	ENST00000375437.2	+	19	3901	c.3611T>C	c.(3610-3612)aTa>aCa	p.I1204T	SCN2A_ENST00000357398.3_Missense_Mutation_p.I1204T|SCN2A_ENST00000375427.2_Missense_Mutation_p.I1204T|SCN2A_ENST00000283256.6_Missense_Mutation_p.I1204T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1204					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I1204T(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCTATAAGATAGTGGAGCAC	0.428																																					p.I1204T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3611C	2						.						186.0	169.0	175.0					2																	166223817		2203	4300	6503	165932063	SO:0001583	missense	6326	exon18			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3611T>C	2.37:g.166223817T>C	ENSP00000364586:p.Ile1204Thr	Somatic		Capture	SOLID	Phase_I	165932063	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.715884	0.89112	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	6.07	6.07	0.98685	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.96463	0.8846	H	0.96142	3.775	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.87578	0.957;0.998	D	0.97620	1.0135	10	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	1204;1204	Q99250-2;Q99250	.;SCN2A_HUMAN	T	1204	ENSP00000364586:I1204T;ENSP00000349973:I1204T;ENSP00000283256:I1204T;ENSP00000364576:I1204T	ENSP00000283256:I1204T	I	+	2	0	SCN2A	165932063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	ATA		0.428	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
ITGA6	3655	hgsc.bcm.edu	37	2	173338958	173338958	+	Silent	SNP	C	C	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:173338958C>A	ENST00000264106.6	+	7	1271	c.1068C>A	c.(1066-1068)ggC>ggA	p.G356G	ITGA6_ENST00000343713.4_Silent_p.G312G|ITGA6_ENST00000264107.7_Silent_p.G317G|ITGA6_ENST00000375221.2_Silent_p.G356G|ITGA6_ENST00000409532.1_Silent_p.G198G|ITGA6_ENST00000409080.1_Silent_p.G317G			P23229	ITA6_HUMAN	integrin, alpha 6	356					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.G317G(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CTTCATTTGGCTATGATGTGG	0.473																																					p.G317G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C951A	2						.						113.0	100.0	104.0					2																	173338958		2203	4300	6503	173047204	SO:0001819	synonymous_variant	3655	exon6				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1068C>A	2.37:g.173338958C>A		Somatic		Capture	SOLID	Phase_I	173047204	NM_000210	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37																																																																																					0.473	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			
GPR155	151556	hgsc.bcm.edu	37	2	175304748	175304748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:175304748C>T	ENST00000392552.2	-	15	2428	c.2190G>A	c.(2188-2190)tgG>tgA	p.W730*	GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Nonsense_Mutation_p.W730*|GPR155_ENST00000392551.2_Nonsense_Mutation_p.W730*	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	730					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.W730*(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CTTTATTGTTCCATAGGAATT	0.388																																					p.W730X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2190A	2						.						105.0	104.0	104.0					2																	175304748		2203	4300	6503	175012994	SO:0001587	stop_gained	151556	exon16			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2190G>A	2.37:g.175304748C>T	ENSP00000376335:p.Trp730*	Somatic		Capture	SOLID	Phase_I	175012994	NM_001033045	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Nonsense_Mutation	SNP	ENST00000392552.2	37	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	43	9.988509	0.99312	.	.	ENSG00000163328	ENST00000392552;ENST00000510236;ENST00000392551;ENST00000295500	.	.	.	5.59	5.59	0.84812	.	0.105590	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9591	19.5907	0.95509	0.0:1.0:0.0:0.0	.	.	.	.	X	730;210;730;730	.	ENSP00000295500:W730X	W	-	3	0	GPR155	175012994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.366000	0.73095	2.640000	0.89533	0.655000	0.94253	TGG		0.388	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529	
SESTD1	91404	hgsc.bcm.edu	37	2	180036941	180036941	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:180036941A>G	ENST00000428443.3	-	5	591	c.275T>C	c.(274-276)gTg>gCg	p.V92A	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	92	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.V92A(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)			AACAAGGGACACCTCAGCTGG	0.313																																					p.V92A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T275C	2						.						90.0	93.0	92.0					2																	180036941		2203	4300	6503	179745186	SO:0001583	missense	91404	exon5			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.275T>C	2.37:g.180036941A>G	ENSP00000415332:p.Val92Ala	Somatic		Capture	SOLID	Phase_I	179745186	NM_178123	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353164	0.82132	.	.	ENSG00000187231	ENST00000428443;ENST00000440010;ENST00000435047	T;T;T	0.64085	-0.08;-0.08;-0.08	5.16	5.16	0.70880	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69940	0.3167	L	0.38838	1.175	0.80722	D	1	D	0.53885	0.963	D	0.71414	0.973	T	0.68432	-0.5410	9	.	.	.	-9.9438	14.993	0.71406	1.0:0.0:0.0:0.0	.	92	Q86VW0	SESD1_HUMAN	A	92	ENSP00000415332:V92A;ENSP00000416164:V92A;ENSP00000410286:V92A	.	V	-	2	0	SESTD1	179745186	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	9.240000	0.95396	1.946000	0.56461	0.459000	0.35465	GTG		0.313	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123	
NT5C1B	93034	hgsc.bcm.edu	37	2	18764161	18764161	+	Missense_Mutation	SNP	G	G	A	rs183534911		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:18764161G>A	ENST00000359846.2	-	7	1251	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	NT5C1B_ENST00000304081.4_Missense_Mutation_p.R332W|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R392W|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R392W|NT5C1B_ENST00000460052.1_5'Flank	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	392					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.R392W(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTTATAAGCCGCACTCCCACT	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21000	0.0		0.0	False		,,,				2504	0.0				p.R332W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C994T	2						.						137.0	130.0	132.0					2																	18764161		2203	4300	6503	18627642	SO:0001583	missense	93034	exon6			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1174C>T	2.37:g.18764161G>A	ENSP00000352904:p.Arg392Trp	Somatic		Capture	SOLID	Phase_I	18627642	NM_033253	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	CCDS33150.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	19.69|19.69	3.873924|3.873924	0.72180|0.72180	.|.	.|.	ENSG00000185013|ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000418427|ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	.|D	.|0.95518	.|-3.73	6.13|6.13	3.21|3.21	0.36854|0.36854	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98422|0.98422	0.9475|0.9475	H|H	0.96333|0.96333	3.805|3.805	0.51233|0.51233	D|D	0.999911|0.999911	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.97110	.|0.999;0.999;0.999;0.999;1.0;0.999;0.999;0.996	D|D	0.99813|0.99813	1.1042|1.1042	5|10	.|0.87932	.|D	.|0	-26.8245|-26.8245	16.0469|16.0469	0.80725|0.80725	0.0:0.0:0.5092:0.4908|0.0:0.0:0.5092:0.4908	.|.	.|375;409;332;375;334;332;392;392	.|E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.|.;.;.;.;.;.;5NT1B_HUMAN;.	V|W	46|392;334;332;392	.|ENSP00000412639:R334W	.|ENSP00000305979:R332W	A|R	-|-	2|1	0|2	NT5C1B|NT5C1B-RDH14;NT5C1B	18627642|18627642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	1.477000|1.477000	0.35431|0.35431	0.881000|0.881000	0.35993|0.35993	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.408	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1		
ZNF804A	91752	hgsc.bcm.edu	37	2	185803400	185803400	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:185803400A>G	ENST00000302277.6	+	4	3871	c.3277A>G	c.(3277-3279)Acc>Gcc	p.T1093A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1093							metal ion binding (GO:0046872)	p.T1093A(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTTATGTTCTACCTCTGTAAC	0.537																																					p.T1093A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3277G	2						.						96.0	94.0	94.0					2																	185803400		2203	4300	6503	185511645	SO:0001583	missense	91752	exon4			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3277A>G	2.37:g.185803400A>G	ENSP00000303252:p.Thr1093Ala	Somatic		Capture	SOLID	Phase_I	185511645	NM_194250	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399691	0.42512	.	.	ENSG00000170396	ENST00000302277	T	0.11385	2.78	5.06	5.06	0.68205	.	0.000000	0.49916	D	0.000122	T	0.09158	0.0226	L	0.52126	1.63	0.30406	N	0.779533	P	0.38473	0.633	B	0.29862	0.108	T	0.11372	-1.0590	10	0.38643	T	0.18	-10.4535	8.8059	0.34938	0.9113:0.0:0.0887:0.0	.	1093	Q7Z570	Z804A_HUMAN	A	1093	ENSP00000303252:T1093A	ENSP00000303252:T1093A	T	+	1	0	ZNF804A	185511645	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.598000	0.54038	1.896000	0.54893	0.254000	0.18369	ACC		0.537	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
PMS1	5378	hgsc.bcm.edu	37	2	190660635	190660635	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:190660635T>C	ENST00000441310.2	+	3	506	c.273T>C	c.(271-273)ggT>ggC	p.G91G	PMS1_ENST00000409823.3_Silent_p.G91G|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409985.1_Silent_p.G91G|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000374826.4_Silent_p.G91G|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000447232.2_Silent_p.G91G	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	91					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.G91G(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CAACTTACGGTTTTCGTGGAG	0.358			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																													p.G91G		yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T273C	2						.						112.0	111.0	111.0					2																	190660635		2203	4300	6503	190368880	SO:0001819	synonymous_variant	5378	exon3				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.273T>C	2.37:g.190660635T>C		Somatic		Capture	SOLID	Phase_I	190368880	NM_000534	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Silent	SNP	ENST00000441310.2	37	CCDS2302.1																																																																																				0.358	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2		
APOB	338	hgsc.bcm.edu	37	2	21225486	21225486	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:21225486T>C	ENST00000233242.1	-	29	12935	c.12808A>G	c.(12808-12810)Agg>Ggg	p.R4270G	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4270			R -> T (in dbSNP:rs1801702). {ECO:0000269|PubMed:22095935}.		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.R4270G(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)					AACAGTTCCCTATACATCGAG	0.363																																					p.R4270G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A12808G	2						.						127.0	139.0	135.0					2																	21225486		2203	4300	6503	21078991	SO:0001583	missense	338	exon29			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.12808A>G	2.37:g.21225486T>C	ENSP00000233242:p.Arg4270Gly	Somatic		Capture	SOLID	Phase_I	21078991	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	8.751	0.921317	0.17982	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00745	5.75	5.3	2.22	0.28083	.	0.921478	0.09246	N	0.828523	T	0.00608	0.0020	N	0.11427	0.14	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.47674	-0.9099	10	0.32370	T	0.25	.	7.6025	0.28083	0.0:0.242:0.0:0.758	.	4270	P04114	APOB_HUMAN	G	4270	ENSP00000233242:R4270G	ENSP00000233242:R4270G	R	-	1	2	APOB	21078991	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.764000	0.26532	0.244000	0.21351	0.528000	0.53228	AGG		0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	hgsc.bcm.edu	37	2	21230334	21230334	+	Missense_Mutation	SNP	G	G	A	rs72653102	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:21230334G>A	ENST00000233242.1	-	26	9533	c.9406C>T	c.(9406-9408)Cgt>Tgt	p.R3136C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3136					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.R3136C(2)		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)					TAAGGTAGACGCATTTCAGGA	0.378													G|||	2	0.000399361	0.0	0.0	5008	,	,		19260	0.001		0.001	False		,,,				2504	0.0				p.R3136C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9406T	2						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	111.0	115.0	114.0		9406	0.4	0.1	2	dbSNP_130	114	2,8598	2.2+/-6.3	0,2,4298	yes	missense	APOB	NM_000384.2	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging	3136/4564	21230334	3,13003	2203	4300	6503	21083839	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.9406C>T	2.37:g.21230334G>A	ENSP00000233242:p.Arg3136Cys	Somatic		Capture	SOLID	Phase_I	21083839	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	2.552	-0.303744	0.05495	2.27E-4	2.33E-4	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.37058	1.22	5.68	0.363	0.16118	.	0.768179	0.12102	N	0.499372	T	0.18215	0.0437	N	0.08118	0	0.09310	N	0.999999	P	0.49961	0.93	B	0.42522	0.39	T	0.11470	-1.0586	10	0.56958	D	0.05	.	6.5686	0.22525	0.0:0.2131:0.3469:0.4399	.	3136	P04114	APOB_HUMAN	C	3136	ENSP00000233242:R3136C	ENSP00000233242:R3136C	R	-	1	0	APOB	21083839	0.000000	0.05858	0.119000	0.21687	0.139000	0.21198	0.171000	0.16685	0.102000	0.17638	-0.262000	0.10625	CGT		0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
WDR12	55759	hgsc.bcm.edu	37	2	203764338	203764338	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:203764338T>C	ENST00000261015.4	-	4	1003	c.254A>G	c.(253-255)tAc>tGc	p.Y85C	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3			WD repeat domain 12									p.Y85C(1)		endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						CTTCTCCACGTATTCTATTTC	0.393																																					p.Y85C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A254G	2						.						113.0	101.0	105.0					2																	203764338		2203	4300	6503	203472583	SO:0001583	missense	55759	exon4			AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.254A>G	2.37:g.203764338T>C	ENSP00000261015:p.Tyr85Cys	Somatic		Capture	SOLID	Phase_I	203472583	NM_018256		Missense_Mutation	SNP	ENST00000261015.4	37	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211628	0.79240	.	.	ENSG00000138442	ENST00000261015	T	0.64260	-0.09	5.48	5.48	0.80851	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82697	0.5093	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.97	D	0.86334	0.1700	10	0.56958	D	0.05	-13.458	15.561	0.76244	0.0:0.0:0.0:1.0	.	85;85	Q53T99;Q9GZL7	.;WDR12_HUMAN	C	85	ENSP00000261015:Y85C	ENSP00000261015:Y85C	Y	-	2	0	WDR12	203472583	1.000000	0.71417	0.947000	0.38551	0.708000	0.40852	7.868000	0.87116	2.079000	0.62486	0.402000	0.26972	TAC		0.393	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256	
ERBB4	2066	hgsc.bcm.edu	37	2	212587198	212587198	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:212587198T>C	ENST00000342788.4	-	7	1113	c.803A>G	c.(802-804)tAc>tGc	p.Y268C	ERBB4_ENST00000484474.1_5'Flank|ERBB4_ENST00000402597.1_Missense_Mutation_p.Y268C|ERBB4_ENST00000436443.1_Missense_Mutation_p.Y268C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	268	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y268C(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GGTTGGATTGTAGACAAAGGT	0.383										TSP Lung(8;0.080)																											p.Y268C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A803G	2						.						173.0	158.0	163.0					2																	212587198		2203	4300	6503	212295443	SO:0001583	missense	2066	exon7			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.803A>G	2.37:g.212587198T>C	ENSP00000342235:p.Tyr268Cys	Somatic		Capture	SOLID	Phase_I	212295443	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.2|23.2	4.384155|4.384155	0.82792|0.82792	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.29655	.|1.56;1.56;1.56	5.83|5.83	5.83|5.83	0.93111|0.93111	.|Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66799|0.66799	0.2826|0.2826	M|M	0.93197|0.93197	3.39|3.39	0.80722|0.80722	D|D	1|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	.|1.0;1.0;0.999;1.0;1.0	T|T	0.76629|0.76629	-0.2889|-0.2889	5|10	.|0.87932	.|D	.|0	.|.	16.1946|16.1946	0.82018|0.82018	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|268;268;127;268;268	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	A|C	268|268	.|ENSP00000342235:Y268C;ENSP00000403204:Y268C;ENSP00000385565:Y268C	.|ENSP00000342235:Y268C	T|Y	-|-	1|2	0|0	ERBB4|ERBB4	212295443|212295443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.977000|7.977000	0.88081|0.88081	2.228000|2.228000	0.72767|0.72767	0.528000|0.528000	0.53228|0.53228	ACA|TAC		0.383	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
PRKAG3	53632	hgsc.bcm.edu	37	2	219691753	219691753	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:219691753A>G	ENST00000529249.1	-	10	1381	c.1066T>C	c.(1066-1068)Ttc>Ctc	p.F356L	PRKAG3_ENST00000545803.1_Missense_Mutation_p.F172L|PRKAG3_ENST00000439262.2_Missense_Mutation_p.F331L|PRKAG3_ENST00000392098.3_Silent_p.H340H			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	356	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.F356L(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	AAGTCTCGGAATGTGCCGATG	0.592																																					p.F356L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1066C	2						.						115.0	113.0	114.0					2																	219691753		2203	4300	6503	219399997	SO:0001583	missense	53632	exon10			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1066T>C	2.37:g.219691753A>G	ENSP00000436068:p.Phe356Leu	Somatic		Capture	SOLID	Phase_I	219399997	NM_017431	Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	A	34	5.320207	0.95682	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.87571	-1.61;-2.27;-1.62	5.77	5.77	0.91146	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	D	0.92479	0.7612	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.92783	0.6242	10	0.56958	D	0.05	-24.9866	15.2696	0.73689	1.0:0.0:0.0:0.0	.	356	Q9UGI9	AAKG3_HUMAN	L	331;172;356	ENSP00000397133:F331L;ENSP00000444536:F172L;ENSP00000436068:F356L	ENSP00000233944:F356L	F	-	1	0	PRKAG3	219399997	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.120000	0.94369	2.203000	0.70933	0.533000	0.62120	TTC		0.592	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1		
ABCB6	10058	hgsc.bcm.edu	37	2	220078322	220078322	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:220078322T>C	ENST00000265316.3	-	10	1961	c.1645A>G	c.(1645-1647)Acc>Gcc	p.T549A	ABCB6_ENST00000439002.2_Missense_Mutation_p.T503A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	549	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.T549A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTAGTAGGTGCCAAACCAA	0.507																																					p.T549A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1645G	2						.						103.0	104.0	104.0					2																	220078322		2203	4300	6503	219786566	SO:0001583	missense	10058	exon10			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1645A>G	2.37:g.220078322T>C	ENSP00000265316:p.Thr549Ala	Somatic		Capture	SOLID	Phase_I	219786566	NM_005689	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530151	0.85706	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.93811	-3.29;-3.27	5.01	5.01	0.66863	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	H	0.96720	3.87	0.80722	D	1	D;D	0.71674	0.988;0.998	D;D	0.66847	0.944;0.947	D	0.98600	1.0658	10	0.59425	D	0.04	-25.4474	14.4008	0.67044	0.0:0.0:0.0:1.0	.	503;549	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	A	549;503	ENSP00000265316:T549A;ENSP00000394333:T503A	ENSP00000265316:T549A	T	-	1	0	ABCB6	219786566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.917000	0.87498	1.881000	0.54492	0.533000	0.62120	ACC		0.507	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689	
GMPPA	29926	hgsc.bcm.edu	37	2	220371447	220371447	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:220371447T>C	ENST00000358215.3	+	13	1559	c.1190T>C	c.(1189-1191)gTg>gCg	p.V397A	GMPPA_ENST00000373917.3_Missense_Mutation_p.V450A|GMPPA_ENST00000313597.5_Missense_Mutation_p.V397A|GMPPA_ENST00000341142.3_Missense_Mutation_p.V397A|GMPPA_ENST00000373908.1_Missense_Mutation_p.V397A|AC053503.11_ENST00000429882.1_RNA	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	397					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.V397A(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)		CCTGCCGAGGTGCTCATCCTG	0.637																																					p.V397A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1190C	2						.						91.0	74.0	80.0					2																	220371447		2203	4300	6503	220079691	SO:0001583	missense	29926	exon13			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.1190T>C	2.37:g.220371447T>C	ENSP00000350949:p.Val397Ala	Somatic		Capture	SOLID	Phase_I	220079691	NM_205847	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359548	0.82353	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	T;T;T;T;T	0.23147	1.92;1.97;1.92;1.92;1.92	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.79011	2.435	0.80722	D	1	D;P	0.54772	0.968;0.82	P;B	0.50570	0.644;0.41	T	0.47420	-0.9119	10	0.66056	D	0.02	-1.0494	13.0359	0.58870	0.0:0.0:0.0:1.0	.	450;397	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	A	397;450;397;397;397	ENSP00000315925:V397A;ENSP00000363027:V450A;ENSP00000350949:V397A;ENSP00000363016:V397A;ENSP00000340760:V397A	ENSP00000315925:V397A	V	+	2	0	GMPPA	220079691	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.073000	0.71245	1.610000	0.50200	0.383000	0.25322	GTG		0.637	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335	
AGFG1	3267	hgsc.bcm.edu	37	2	228399682	228399682	+	Silent	SNP	C	C	T	rs139146021		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:228399682C>T	ENST00000310078.8	+	8	1406	c.1146C>T	c.(1144-1146)agC>agT	p.S382S	AGFG1_ENST00000409315.1_Silent_p.S361S|AGFG1_ENST00000409171.1_Silent_p.S382S|AGFG1_ENST00000409979.2_Silent_p.S406S|AGFG1_ENST00000373671.3_Silent_p.S342S	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	382					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S382S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AACTAGACAGCGTTTTCAGTT	0.473																																					p.S382S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1146T	2						.	C	,,,	0,4406		0,0,2203	160.0	143.0	148.0		1218,1146,1026,1146	-3.6	1.0	2	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AGFG1	NM_001135187.1,NM_001135188.1,NM_001135189.1,NM_004504.4	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	406/585,382/561,342/523,382/563	228399682	1,13005	2203	4300	6503	228107926	SO:0001819	synonymous_variant	3267	exon8				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1146C>T	2.37:g.228399682C>T		Somatic		Capture	SOLID	Phase_I	228107926	NM_004504	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Silent	SNP	ENST00000310078.8	37	CCDS2467.1																																																																																				0.473	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504	
DGKD	8527	hgsc.bcm.edu	37	2	234359586	234359586	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:234359586A>C	ENST00000264057.2	+	17	2069	c.2057A>C	c.(2056-2058)gAa>gCa	p.E686A	DGKD_ENST00000409813.3_Missense_Mutation_p.E642A	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	686					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCTCCGTGTGAAAAGCTGATC	0.557																																					p.E686A												.	.	0			c.A2057C	2						.						165.0	153.0	157.0					2																	234359586		2203	4300	6503	234024325	SO:0001583	missense	8527	exon17			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2057A>C	2.37:g.234359586A>C	ENSP00000264057:p.Glu686Ala	Somatic		Capture	SOLID	Phase_I	234024325	NM_152879	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670542	0.47781	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.80909	-1.25;-1.43	4.0	4.0	0.46444	.	0.000000	0.56097	D	0.000028	T	0.73148	0.3550	L	0.45581	1.43	0.47862	D	0.999535	B;B;B	0.25809	0.077;0.135;0.0	B;B;B	0.29942	0.044;0.109;0.002	T	0.66862	-0.5816	10	0.15952	T	0.53	.	11.9305	0.52843	1.0:0.0:0.0:0.0	.	570;642;686	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	A	686;642	ENSP00000264057:E686A;ENSP00000386455:E642A	ENSP00000264057:E686A	E	+	2	0	DGKD	234024325	1.000000	0.71417	0.940000	0.37924	0.591000	0.36615	7.501000	0.81600	1.815000	0.52974	0.533000	0.62120	GAA		0.557	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
C2orf44	80304	hgsc.bcm.edu	37	2	24262332	24262332	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:24262332A>G	ENST00000295148.4	-	2	90	c.33T>C	c.(31-33)acT>acC	p.T11T	C2orf44_ENST00000406895.3_Silent_p.T11T	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	11								p.T11T(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTCAGTCCAGTCCTGAGTA	0.443			T	ALK	NSCLC																																p.T11T			Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T33C	2						.						75.0	70.0	72.0					2																	24262332		2203	4300	6503	24115836	SO:0001819	synonymous_variant	80304	exon2			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.33T>C	2.37:g.24262332A>G		Somatic		Capture	SOLID	Phase_I	24115836	NM_025203	D6W532|Q8IYK0|Q9HBP5	Silent	SNP	ENST00000295148.4	37	CCDS1705.1																																																																																				0.443	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203	
COL6A3	1293	hgsc.bcm.edu	37	2	238249158	238249158	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:238249158A>G	ENST00000295550.4	-	38	8853	c.8401T>C	c.(8401-8403)Tcc>Ccc	p.S2801P	COL6A3_ENST00000347401.3_Missense_Mutation_p.S2600P|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2601P|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2595P|COL6A3_ENST00000472056.1_Missense_Mutation_p.S2194P|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2595P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2801	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.S2801P(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)		AGCTCGGTGGACTTGTCCACT	0.557																																					p.S2194P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6580C	2						.						97.0	86.0	90.0					2																	238249158		2203	4300	6503	237913897	SO:0001583	missense	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.8401T>C	2.37:g.238249158A>G	ENSP00000295550:p.Ser2801Pro	Somatic		Capture	SOLID	Phase_I	237913897	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	5.151	0.213397	0.09757	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.65	-3.37	0.04898	von Willebrand factor, type A (3);	0.246207	0.28465	N	0.015244	T	0.53753	0.1816	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.26002	0.0;0.0;0.139	B;B;B	0.35727	0.0;0.0;0.209	T	0.57118	-0.7866	10	0.23891	T	0.37	.	6.8946	0.24249	0.2134:0.3068:0.4798:0.0	.	2194;2595;2801	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	P	2801;2600;2595;2194;2595;2601	ENSP00000295550:S2801P;ENSP00000315609:S2600P;ENSP00000315873:S2595P;ENSP00000418285:S2194P;ENSP00000386844:S2595P;ENSP00000295546:S2601P	ENSP00000295550:S2801P	S	-	1	0	COL6A3	237913897	0.917000	0.31117	0.002000	0.10522	0.138000	0.21146	0.242000	0.18087	-0.371000	0.08004	-0.274000	0.10170	TCC		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
MTERF4	130916	hgsc.bcm.edu	37	2	242038847	242038847	+	Missense_Mutation	SNP	G	G	A	rs530783597	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:242038847G>A	ENST00000391980.2	-	2	542	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	MTERFD2_ENST00000407095.3_Missense_Mutation_p.R162C|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.R162C|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		162					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)	p.R162C(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TAACTGGAGCGCTTCCTCATT	0.468													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19877	0.0		0.0	False		,,,				2504	0.0				p.R162C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C484T	2						.						102.0	102.0	102.0					2																	242038847		2203	4300	6503	241687520	SO:0001583	missense	130916	exon2																														ENST00000391980.2:c.484C>T	2.37:g.242038847G>A	ENSP00000375840:p.Arg162Cys	Somatic		Capture	SOLID	Phase_I	241687520	NM_182501	A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420906	0.42918	.	.	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.61510	0.1;0.1;2.76;2.76;2.76;0.21	4.71	4.71	0.59529	.	0.082448	0.46442	D	0.000294	T	0.73361	0.3577	M	0.74881	2.28	0.42496	D	0.992919	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.989	T	0.75980	-0.3126	10	0.56958	D	0.05	-17.8701	12.0069	0.53265	0.0:0.0:0.8268:0.1732	.	162;162	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	C	162;162;162;155;162;141	ENSP00000419315:R162C;ENSP00000385183:R162C;ENSP00000375840:R162C;ENSP00000409023:R155C;ENSP00000385630:R162C;ENSP00000393063:R141C	ENSP00000241527:R162C	R	-	1	0	MTERFD2	241687520	0.912000	0.30974	0.495000	0.27527	0.341000	0.28922	2.409000	0.44583	2.340000	0.79590	0.591000	0.81541	CGC		0.468	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4		
TRAPPC12	51112	hgsc.bcm.edu	37	2	3481467	3481467	+	Splice_Site	SNP	T	T	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:3481467T>A	ENST00000324266.5	+	10	1973	c.1778T>A	c.(1777-1779)aTt>aAt	p.I593N	TRAPPC12_ENST00000382110.2_Splice_Site_p.I593N	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	593					vesicle-mediated transport (GO:0016192)			p.I593N(1)									TCAAAGCAGATTGGAGACATA	0.303																																					p.I593N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1778A	2						.						53.0	57.0	56.0					2																	3481467		2203	4300	6503	3460474	SO:0001630	splice_region_variant	51112	exon10			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1777-1T>A	2.37:g.3481467T>A		Somatic		Capture	SOLID	Phase_I	3460474	NM_016030	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404666	0.83230	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266;ENST00000415624	T;T;T	0.76968	-0.99;-0.99;-1.06	5.52	5.52	0.82312	.	0.045544	0.85682	D	0.000000	D	0.87067	0.6085	M	0.78637	2.42	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.64776	0.897;0.929	D	0.88671	0.3195	10	0.72032	D	0.01	.	15.1195	0.72432	0.0:0.0:0.0:1.0	.	582;593	E7ENL7;Q8WVT3	.;TPC12_HUMAN	N	593;582;593;92	ENSP00000371544:I593N;ENSP00000324318:I593N;ENSP00000396592:I92N	ENSP00000303612:I582N	I	+	2	0	TTC15	3460474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.151000	0.77411	2.232000	0.73038	0.528000	0.53228	ATT		0.303	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030	Missense_Mutation
ADCY3	109	hgsc.bcm.edu	37	2	25046126	25046126	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:25046126A>G	ENST00000260600.5	-	17	3686	c.2835T>C	c.(2833-2835)ggT>ggC	p.G945G	ADCY3_ENST00000405392.1_Silent_p.G532G|RP11-443B20.1_ENST00000606114.1_RNA	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	945					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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.G945G(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GACACTCAATACCACCATTGT	0.498																																					p.G945G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2835C	2						.						147.0	116.0	126.0					2																	25046126		2203	4300	6503	24899630	SO:0001819	synonymous_variant	109	exon17			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2835T>C	2.37:g.25046126A>G		Somatic		Capture	SOLID	Phase_I	24899630	NM_004036	B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	CCDS1715.1																																																																																				0.498	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2		
DNMT3A	1788	hgsc.bcm.edu	37	2	25497887	25497887	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:25497887G>T	ENST00000264709.3	-	6	899	c.562C>A	c.(562-564)Ctc>Atc	p.L188I	DNMT3A_ENST00000321117.5_Missense_Mutation_p.L188I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	188					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.L188I(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)					TGGAAGGTGAGCCTCGGCATG	0.672			"""Mis, F, N, S"""		AML																																p.L188I			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C562A	2						.						31.0	29.0	30.0					2																	25497887		2203	4300	6503	25351391	SO:0001583	missense	1788	exon6				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.562C>A	2.37:g.25497887G>T	ENSP00000264709:p.Leu188Ile	Somatic		Capture	SOLID	Phase_I	25351391	NM_175629	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356013	0.41700	.	.	ENSG00000119772	ENST00000321117;ENST00000264709	D;D	0.92752	-3.1;-3.1	5.24	5.24	0.73138	.	0.630887	0.15311	N	0.269090	D	0.84428	0.5470	N	0.14661	0.345	0.80722	D	1	B	0.17038	0.02	B	0.09377	0.004	T	0.78600	-0.2141	10	0.11794	T	0.64	-4.9883	16.3295	0.83004	0.0:0.0:1.0:0.0	.	188	Q9Y6K1	DNM3A_HUMAN	I	188	ENSP00000324375:L188I;ENSP00000264709:L188I	ENSP00000264709:L188I	L	-	1	0	DNMT3A	25351391	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.409000	0.52657	2.448000	0.82819	0.561000	0.74099	CTC		0.672	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	
FOSL2	2355	hgsc.bcm.edu	37	2	28635192	28635192	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:28635192C>T	ENST00000264716.4	+	4	1721	c.858C>T	c.(856-858)agC>agT	p.S286S	FOSL2_ENST00000545753.1_Silent_p.S247S|FOSL2_ENST00000379619.1_Silent_p.S278S	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	286					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S286S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCTATCCTAGCGTCCTGGAGC	0.612																																					p.S286S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C858T	2						.						80.0	63.0	69.0					2																	28635192		2203	4300	6503	28488696	SO:0001819	synonymous_variant	2355	exon4				CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.858C>T	2.37:g.28635192C>T		Somatic		Capture	SOLID	Phase_I	28488696	NM_005253	B2RD58|B3KP27|B4DYV4|Q6FG46	Silent	SNP	ENST00000264716.4	37	CCDS1766.1																																																																																				0.612	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253	
TRMT61B	55006	hgsc.bcm.edu	37	2	29092516	29092516	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:29092516T>C	ENST00000306108.5	-	1	651	c.628A>G	c.(628-630)Atg>Gtg	p.M210V		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	210					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)	p.M210V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CTCCTCAGCATGTACTGCTTA	0.498																																					p.M210V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A628G	2						.						159.0	170.0	166.0					2																	29092516		2203	4300	6503	28946020	SO:0001583	missense	55006	exon1			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.628A>G	2.37:g.29092516T>C	ENSP00000302801:p.Met210Val	Somatic		Capture	SOLID	Phase_I	28946020	NM_017910	Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	T	5.784	0.328983	0.10956	.	.	ENSG00000171103	ENST00000306108	T	0.20598	2.06	5.5	-2.4	0.06583	.	0.685062	0.14334	N	0.326183	T	0.12178	0.0296	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.12156	0.0;0.007	T	0.17992	-1.0351	10	0.27785	T	0.31	.	15.6559	0.77133	0.0:0.0675:0.7416:0.1909	.	210;210	F8WDR2;Q9BVS5	.;TR61B_HUMAN	V	210	ENSP00000302801:M210V	ENSP00000302801:M210V	M	-	1	0	TRMT61B	28946020	0.004000	0.15560	0.003000	0.11579	0.003000	0.03518	-0.046000	0.11983	-0.680000	0.05211	-0.379000	0.06801	ATG		0.498	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910	
PRKD3	23683	hgsc.bcm.edu	37	2	37501767	37501767	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:37501767G>A	ENST00000379066.1	-	11	2210	c.1448C>T	c.(1447-1449)cCa>cTa	p.P483L	PRKD3_ENST00000234179.2_Missense_Mutation_p.P483L			O94806	KPCD3_HUMAN	protein kinase D3	483	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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.P483L(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)				AAAACAGTGTGGATTGCTGCC	0.388																																					p.P483L	Melanoma(80;621 1355 8613 11814 51767)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1448T	2						.						94.0	85.0	88.0					2																	37501767		2203	4300	6503	37355271	SO:0001583	missense	23683	exon10			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.1448C>T	2.37:g.37501767G>A	ENSP00000368356:p.Pro483Leu	Somatic		Capture	SOLID	Phase_I	37355271	NM_005813	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244105	0.79912	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.76060	-0.99;-0.99	5.42	4.54	0.55810	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.061129	0.64402	N	0.000003	T	0.77751	0.4177	M	0.74881	2.28	0.80722	D	1	B;B	0.22414	0.069;0.009	B;B	0.36092	0.217;0.096	T	0.75031	-0.3461	10	0.40728	T	0.16	-6.9621	13.8833	0.63693	0.0733:0.0:0.9267:0.0	.	483;483	O94806-2;O94806	.;KPCD3_HUMAN	L	483	ENSP00000368356:P483L;ENSP00000234179:P483L	ENSP00000234179:P483L	P	-	2	0	PRKD3	37355271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.791000	0.85805	1.269000	0.44280	0.585000	0.79938	CCA		0.388	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813	
GEMIN6	79833	hgsc.bcm.edu	37	2	39008711	39008711	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:39008711A>G	ENST00000281950.3	+	3	297	c.181A>G	c.(181-183)Atg>Gtg	p.M61V	GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	61					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.M61V(1)		kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				GACCGGAATTATGGGACATGC	0.448																																					p.M61V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A181G	2						.						107.0	104.0	105.0					2																	39008711		2203	4300	6503	38862215	SO:0001583	missense	79833	exon3			AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.181A>G	2.37:g.39008711A>G	ENSP00000281950:p.Met61Val	Somatic		Capture	SOLID	Phase_I	38862215	NM_024775	B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Missense_Mutation	SNP	ENST00000281950.3	37	CCDS1799.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785790	0.49997	.	.	ENSG00000152147	ENST00000281950	T	0.44083	0.93	5.67	5.67	0.87782	.	0.119132	0.85682	D	0.000000	T	0.43722	0.1260	L	0.56769	1.78	0.80722	D	1	P	0.40144	0.704	B	0.42462	0.388	T	0.45644	-0.9247	10	0.62326	D	0.03	-38.5523	10.6274	0.45516	0.8205:0.0:0.0:0.1795	.	61	Q8WXD5	GEMI6_HUMAN	V	61	ENSP00000281950:M61V	ENSP00000281950:M61V	M	+	1	0	GEMIN6	38862215	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	1.552000	0.36244	2.165000	0.68154	0.482000	0.46254	ATG		0.448	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250441.3		
GEMIN6	79833	hgsc.bcm.edu	37	2	39008997	39008997	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:39008997A>G	ENST00000281950.3	+	3	583	c.467A>G	c.(466-468)cAg>cGg	p.Q156R	GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	156					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.Q156R(1)		kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				TCGCGTGTTCAGGATCTTATT	0.428																																					p.Q156R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A467G	2						.						99.0	103.0	102.0					2																	39008997		2203	4300	6503	38862501	SO:0001583	missense	79833	exon3			AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.467A>G	2.37:g.39008997A>G	ENSP00000281950:p.Gln156Arg	Somatic		Capture	SOLID	Phase_I	38862501	NM_024775	B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Missense_Mutation	SNP	ENST00000281950.3	37	CCDS1799.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277804	0.80692	.	.	ENSG00000152147	ENST00000281950	T	0.55052	0.54	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.73467	-0.3973	10	0.87932	D	0	-24.3938	15.7604	0.78076	1.0:0.0:0.0:0.0	.	156	Q8WXD5	GEMI6_HUMAN	R	156	ENSP00000281950:Q156R	ENSP00000281950:Q156R	Q	+	2	0	GEMIN6	38862501	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.673000	0.68109	2.210000	0.71456	0.482000	0.46254	CAG		0.428	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250441.3		
VPS54	51542	hgsc.bcm.edu	37	2	64211014	64211014	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:64211014A>G	ENST00000272322.4	-	2	274	c.120T>C	c.(118-120)tgT>tgC	p.C40C	VPS54_ENST00000409558.4_Silent_p.C40C			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	40					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.C40C(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GTTCCTTGGGACACACATCTG	0.383																																					p.C40C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T120C	2						.						121.0	125.0	124.0					2																	64211014		2203	4300	6503	64064518	SO:0001819	synonymous_variant	51542	exon2			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.120T>C	2.37:g.64211014A>G		Somatic		Capture	SOLID	Phase_I	64064518	NM_016516	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	ENST00000272322.4	37	CCDS33208.1																																																																																				0.383	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516	
PELI1	57162	hgsc.bcm.edu	37	2	64335391	64335391	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:64335391A>G	ENST00000358912.4	-	2	496	c.54T>C	c.(52-54)ggT>ggC	p.G18G	PELI1_ENST00000466177.2_5'UTR	NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	18					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.G18G(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CAATGAGTTCACCATATTTTA	0.358																																					p.G18G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T54C	2						.						195.0	181.0	186.0					2																	64335391		2203	4300	6503	64188895	SO:0001819	synonymous_variant	57162	exon2				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.54T>C	2.37:g.64335391A>G		Somatic		Capture	SOLID	Phase_I	64188895	NM_020651	Q96SM0|Q9GZY5|Q9HCX0	Silent	SNP	ENST00000358912.4	37	CCDS1876.1																																																																																				0.358	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651	
ANXA4	307	hgsc.bcm.edu	37	2	70035077	70035077	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:70035077G>T	ENST00000394295.4	+	6	594	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S	ANXA4_ENST00000536030.1_Missense_Mutation_p.A32S|ANXA4_ENST00000409920.1_Missense_Mutation_p.A94S	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	114					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)	p.A116S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGAGATCCTGGCCTCCCGGAC	0.567																																					p.A116S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G346T	2						.						70.0	62.0	65.0					2																	70035077		2203	4300	6503	69888581	SO:0001583	missense	307	exon6			M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.346G>T	2.37:g.70035077G>T	ENSP00000377833:p.Ala116Ser	Somatic		Capture	SOLID	Phase_I	69888581	NM_001153	B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195694	0.94960	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.03745	3.82;3.82;3.82	5.86	5.86	0.93980	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.15912	0.0383	L	0.60455	1.87	0.58432	D	0.999999	D;P;D	0.76494	0.998;0.946;0.999	D;P;D	0.97110	0.997;0.789;1.0	T	0.00080	-1.2109	9	.	.	.	.	17.6924	0.88272	0.0:0.0:1.0:0.0	.	114;94;116	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	S	94;116;32	ENSP00000386756:A94S;ENSP00000377833:A116S;ENSP00000441931:A32S	.	A	+	1	0	ANXA4	69888581	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.250000	0.58772	2.781000	0.95711	0.650000	0.86243	GCC		0.567	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153	
GMCL1	64395	hgsc.bcm.edu	37	2	70081983	70081983	+	Silent	SNP	T	T	C	rs185003963	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:70081983T>C	ENST00000282570.3	+	9	1214	c.963T>C	c.(961-963)acT>acC	p.T321T		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	321					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)		p.T321T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TTCTTGAAACTGAACAAGGAA	0.328																																					p.T321T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T963C	2						.						75.0	77.0	76.0					2																	70081983		2203	4293	6496	69935487	SO:0001819	synonymous_variant	64395	exon9			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.963T>C	2.37:g.70081983T>C		Somatic		Capture	SOLID	Phase_I	69935487	NM_178439	Q9H826|Q9H8V7|Q9H927	Silent	SNP	ENST00000282570.3	37	CCDS1895.1																																																																																				0.328	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439	
DQX1	165545	hgsc.bcm.edu	37	2	74746319	74746319	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:74746319G>A	ENST00000404568.3	-	11	2064	c.1845C>T	c.(1843-1845)ctC>ctT	p.L615L	DQX1_ENST00000393951.2_Silent_p.L615L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	615						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.L497L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TATGGGTTAGGAGAAGGTAAT	0.498																																					p.L615L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1845T	2						.						89.0	93.0	92.0					2																	74746319		2203	4300	6503	74599827	SO:0001819	synonymous_variant	165545	exon11			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1845C>T	2.37:g.74746319G>A		Somatic		Capture	SOLID	Phase_I	74599827	NM_133637	Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	CCDS1949.2																																																																																				0.498	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637	
NCAPH	23397	hgsc.bcm.edu	37	2	97019077	97019077	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:97019077T>C	ENST00000240423.4	+	8	987	c.944T>C	c.(943-945)aTc>aCc	p.I315T	NCAPH_ENST00000427946.1_Missense_Mutation_p.I179T|NCAPH_ENST00000455200.1_Missense_Mutation_p.I304T	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	315					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.I315T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GATCGCCAGATCTGCCCTTCC	0.502																																					p.I315T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T944C	2						.						122.0	103.0	109.0					2																	97019077		2203	4300	6503	96382804	SO:0001583	missense	23397	exon8			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.944T>C	2.37:g.97019077T>C	ENSP00000240423:p.Ile315Thr	Somatic		Capture	SOLID	Phase_I	96382804	NM_015341	B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309031	0.81247	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000456906;ENST00000455200	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.76	5.76	0.90799	.	0.098313	0.64402	D	0.000002	T	0.74906	0.3778	M	0.80746	2.51	0.45995	D	0.998803	D;D;P;D	0.61697	0.99;0.99;0.928;0.99	D;D;P;D	0.63381	0.914;0.914;0.751;0.914	T	0.78753	-0.2081	10	0.72032	D	0.01	-14.433	14.0316	0.64619	0.0:0.0:0.0:1.0	.	291;304;304;315	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	T	315;179;304;196;304	ENSP00000240423:I315T;ENSP00000400774:I179T;ENSP00000405237:I304T;ENSP00000401227:I196T;ENSP00000407308:I304T	ENSP00000240423:I315T	I	+	2	0	NCAPH	96382804	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.629000	0.67798	2.206000	0.71126	0.533000	0.62120	ATC		0.502	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341	
CNNM3	26505	hgsc.bcm.edu	37	2	97493492	97493492	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:97493492G>A	ENST00000305510.3	+	4	1572	c.1544G>A	c.(1543-1545)cGc>cAc	p.R515H	CNNM3_ENST00000377060.3_Missense_Mutation_p.R467H|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	515					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.R515H(1)		NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						AGCCCGCTGCGCATCTCTGAG	0.567																																					p.R515H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1544A	2						.						112.0	100.0	104.0					2																	97493492		2203	4300	6503	96857219	SO:0001583	missense	26505	exon4			AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1544G>A	2.37:g.97493492G>A	ENSP00000305449:p.Arg515His	Somatic		Capture	SOLID	Phase_I	96857219	NM_017623	B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220322	0.39201	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.90504	-2.33;-2.68	5.93	5.06	0.68205	.	0.069308	0.56097	D	0.000025	D	0.83972	0.5370	L	0.41710	1.295	0.80722	D	1	B;B	0.34264	0.247;0.446	B;B	0.26864	0.074;0.034	T	0.81040	-0.1113	10	0.15499	T	0.54	-4.6494	13.9695	0.64230	0.0736:0.0:0.9264:0.0	.	467;515	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	H	467;467;515	ENSP00000366260:R467H;ENSP00000305449:R515H	ENSP00000305449:R515H	R	+	2	0	CNNM3	96857219	1.000000	0.71417	0.078000	0.20375	0.443000	0.32047	5.392000	0.66272	1.524000	0.49035	0.655000	0.94253	CGC		0.567	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623	
SLC25A12	8604	hgsc.bcm.edu	37	2	172749723	172749724	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	AT	AT	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:172749723_172749724delAT	ENST00000422440.2	-	2	94_95	c.57_58delAT	c.(55-60)atatttfs	p.F20fs	SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	20					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)	p.F20fs*7(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ACCTGTAGAAATATGTTTCTTA	0.381																																					p.19_20del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.57_58del	2						.																																			172457970	SO:0001589	frameshift_variant	8604	exon2			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.57_58delAT	2.37:g.172749725_172749726delAT	ENSP00000388658:p.Phe20fs	Somatic		Capture	SOLID	Phase_I	172457969	NM_003705	B3KR64|Q96AM8	Frame_Shift_Del	DEL	ENST00000422440.2	37	CCDS33327.1																																																																																				0.381	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705	
NCKAP1	10787	hgsc.bcm.edu	37	2	183795487	183795489	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	TGA	TGA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:183795487_183795489delTGA	ENST00000361354.4	-	27	3259_3261	c.2887_2889delTCA	c.(2887-2889)tcadel	p.S963del	NCKAP1_ENST00000360982.2_In_Frame_Del_p.S969del|NCKAP1_ENST00000478449.1_5'UTR	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	963					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.S969delS(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATCCGGCAGCTGATGATAACTCA	0.33																																					p.963_963del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.2887_2889del	2						.																																			183503734	SO:0001651	inframe_deletion	10787	exon27			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2887_2889delTCA	2.37:g.183795490_183795492delTGA	ENSP00000355348:p.Ser963del	Somatic		Capture	SOLID	Phase_I	183503732	NM_013436	O60329|Q53QN5|Q53S94|Q53Y35	In_Frame_Del	DEL	ENST00000361354.4	37	CCDS2287.1																																																																																				0.330	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842	
HDLBP	3069	hgsc.bcm.edu	37	2	242202167	242202167	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr2:242202167T>C	ENST00000391975.1	-	5	636	c.409A>G	c.(409-411)Atg>Gtg	p.M137V	HDLBP_ENST00000427183.2_Missense_Mutation_p.M173V|HDLBP_ENST00000391976.2_Missense_Mutation_p.M137V|HDLBP_ENST00000310931.4_Missense_Mutation_p.M137V	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	137					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.M137V(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CGAGCTTTCATGACAGCATCC	0.537																																					p.M137V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A409G	2						.						193.0	169.0	177.0					2																	242202167		2203	4300	6503	241850840	SO:0001583	missense	3069	exon5				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.409A>G	2.37:g.242202167T>C	ENSP00000375836:p.Met137Val	Somatic		Capture	SOLID	Phase_I	241850840	NM_005336	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.68|16.68	3.189894|3.189894	0.57909|0.57909	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000422933;ENST00000428482;ENST00000452065;ENST00000444092;ENST00000430918	.|T;T;T;T;T;T;T;T;T	.|0.62232	.|2.28;2.28;2.28;2.25;1.55;0.97;0.04;0.91;0.91	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63022|0.63022	0.2476|0.2476	M|M	0.72118|0.72118	2.19|2.19	0.47441|0.47441	D|D	0.999428|0.999428	.|B;B	.|0.33345	.|0.034;0.409	.|B;B	.|0.33690	.|0.053;0.168	T|T	0.61267|0.61267	-0.7097|-0.7097	5|10	.|0.27785	.|T	.|0.31	-47.6556|-47.6556	16.3943|16.3943	0.83563|0.83563	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|173;137	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	R|V	14|137;137;137;173;137;137;137;137;137	.|ENSP00000375836:M137V;ENSP00000375837:M137V;ENSP00000312042:M137V;ENSP00000399139:M173V;ENSP00000403807:M137V;ENSP00000405109:M137V;ENSP00000387782:M137V;ENSP00000416559:M137V;ENSP00000403913:M137V	.|ENSP00000312042:M137V	H|M	-|-	2|1	0|0	HDLBP|HDLBP	241850840|241850840	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.975000|7.975000	0.88055|0.88055	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.537	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	
ERP44	23071	hgsc.bcm.edu	37	9	102782961	102782961	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:102782961T>C	ENST00000262455.6	-	6	723	c.524A>G	c.(523-525)tAt>tGt	p.Y175C		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	175					cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)	p.Y175C(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						AAAAACTCTATAGTTGTCCGA	0.328																																					p.Y175C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A524G	9						.						103.0	90.0	95.0					9																	102782961		2203	4300	6503	101822782	SO:0001583	missense	23071	exon6			AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"""Protein disulfide isomerases"""	18311	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 10"""	609170	"""thioredoxin domain containing 4 (endoplasmic reticulum)"""	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.524A>G	9.37:g.102782961T>C	ENSP00000262455:p.Tyr175Cys	Somatic		Capture	SOLID	Phase_I	101822782	NM_015051	O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Missense_Mutation	SNP	ENST00000262455.6	37	CCDS35082.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867707	0.72065	.	.	ENSG00000023318	ENST00000262455	T	0.78707	-1.2	5.51	5.51	0.81932	Thioredoxin-like fold (2);	0.054165	0.85682	D	0.000000	D	0.87947	0.6306	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.88395	0.3011	10	0.45353	T	0.12	-2.6516	10.816	0.46575	0.1411:0.0:0.0:0.8589	.	175	Q9BS26	ERP44_HUMAN	C	175	ENSP00000262455:Y175C	ENSP00000262455:Y175C	Y	-	2	0	ERP44	101822782	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.682000	0.61671	2.097000	0.63578	0.455000	0.32223	TAT		0.328	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	XM_088476	
ALDOB	229	hgsc.bcm.edu	37	9	104189817	104189817	+	Missense_Mutation	SNP	C	C	T	rs17852652		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:104189817C>T	ENST00000374855.4	-	5	611	c.487G>A	c.(487-489)Gct>Act	p.A163T	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	163					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.A163T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCCTGGATAGCGAGGCTGGAT	0.562																																					p.A163T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G487A	9						.						112.0	87.0	95.0					9																	104189817		2203	4300	6503	103229638	SO:0001583	missense	229	exon5			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.487G>A	9.37:g.104189817C>T	ENSP00000363988:p.Ala163Thr	Somatic		Capture	SOLID	Phase_I	103229638	NM_000035	Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	C	37	6.084131	0.97267	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.88975	-2.45	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);	0.097634	0.64402	D	0.000001	D	0.95671	0.8592	M	0.93638	3.44	0.80722	D	1	D	0.76494	0.999	P	0.59703	0.862	D	0.95905	0.8918	10	0.87932	D	0	-5.3594	19.8676	0.96824	0.0:1.0:0.0:0.0	.	163	P05062	ALDOB_HUMAN	T	163;90;163	ENSP00000363988:A163T	ENSP00000363986:A90T	A	-	1	0	ALDOB	103229638	1.000000	0.71417	0.993000	0.49108	0.856000	0.48823	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCT		0.562	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2		
ZNF483	158399	hgsc.bcm.edu	37	9	114304130	114304130	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:114304130C>T	ENST00000309235.5	+	6	1073	c.915C>T	c.(913-915)agC>agT	p.S305S	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	305					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.S305S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CAGATAAAAGCCCCTTTGGAC	0.398																																					p.S305S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C915T	9						.						86.0	96.0	93.0					9																	114304130		2203	4300	6503	113343951	SO:0001819	synonymous_variant	158399	exon6			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.915C>T	9.37:g.114304130C>T		Somatic		Capture	SOLID	Phase_I	113343951	NM_133464	Q5VZN2|Q8NAE1	Silent	SNP	ENST00000309235.5	37	CCDS35106.1																																																																																				0.398	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567	
TNC	3371	hgsc.bcm.edu	37	9	117783544	117783544	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:117783544G>A	ENST00000350763.4	-	28	6909	c.6498C>T	c.(6496-6498)ggC>ggT	p.G2166G	TNC_ENST00000535648.1_Silent_p.G1711G|TNC_ENST00000537320.1_Silent_p.G1529G|TNC_ENST00000345230.3_Silent_p.G1529G|TNC_ENST00000542877.1_Silent_p.G1803G|TNC_ENST00000341037.4_Silent_p.G1984G|TNC_ENST00000346706.3_Silent_p.G1620G|TNC_ENST00000340094.3_Silent_p.G1802G|TNC_ENST00000423613.2_Silent_p.G1893G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2166	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.G2166G(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACCAGTTAACGCCCTGTTAAA	0.458																																					p.G2166G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6498T	9						.						66.0	63.0	64.0					9																	117783544		2203	4300	6503	116823365	SO:0001819	synonymous_variant	3371	exon28				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6498C>T	9.37:g.117783544G>A		Somatic		Capture	SOLID	Phase_I	116823365	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1																																																																																				0.458	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
DENND1A	57706	hgsc.bcm.edu	37	9	126319874	126319874	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:126319874T>C	ENST00000373624.2	-	13	1169	c.968A>G	c.(967-969)tAc>tGc	p.Y323C	DENND1A_ENST00000373620.3_Missense_Mutation_p.Y323C|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.Y291C|DENND1A_ENST00000394215.2_Missense_Mutation_p.Y293C|DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000373618.1_Missense_Mutation_p.Y291C	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	323	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Y323C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AGCGTTTCGGTAGCTACCGAA	0.542																																					p.Y323C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A968G	9						.						85.0	73.0	77.0					9																	126319874		2203	4300	6503	125359695	SO:0001583	missense	57706	exon13			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.968A>G	9.37:g.126319874T>C	ENSP00000362727:p.Tyr323Cys	Somatic		Capture	SOLID	Phase_I	125359695	NM_024820	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351208	0.82132	.	.	ENSG00000119522	ENST00000373624;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.69	5.69	0.88448	dDENN (3);	0.000000	0.85682	D	0.000000	D	0.85839	0.5790	M	0.84948	2.725	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	0.998;0.993;0.981;0.995;0.999;0.993	D	0.88114	0.2827	10	0.87932	D	0	-13.0452	16.296	0.82769	0.0:0.0:0.0:1.0	.	291;291;293;323;323;221	Q8TEH3-6;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3;Q9HCG4	.;.;.;.;DEN1A_HUMAN;.	C	323;291;323;293;291	ENSP00000362727:Y323C;ENSP00000377766:Y291C;ENSP00000362722:Y323C;ENSP00000377763:Y293C;ENSP00000362720:Y291C	ENSP00000362720:Y291C	Y	-	2	0	DENND1A	125359695	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.572000	0.82409	2.304000	0.77564	0.529000	0.55759	TAC		0.542	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820	
ANGPTL2	23452	hgsc.bcm.edu	37	9	129851332	129851332	+	Silent	SNP	G	G	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:129851332G>C	ENST00000373425.3	-	5	1985	c.1368C>G	c.(1366-1368)ggC>ggG	p.G456G	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Silent_p.G154G	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	456	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.G456G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TCCGGTAATGGCCCCCGCGGT	0.587																																					p.G456G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1368G	9						.						123.0	124.0	123.0					9																	129851332		2203	4300	6503	128891153	SO:0001819	synonymous_variant	23452	exon5			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.1368C>G	9.37:g.129851332G>C		Somatic		Capture	SOLID	Phase_I	128891153	NM_012098	Q5JT58|Q8NCH7	Silent	SNP	ENST00000373425.3	37	CCDS6868.1																																																																																				0.587	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098	
SLC25A25	114789	hgsc.bcm.edu	37	9	130869349	130869349	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:130869349C>T	ENST00000373064.5	+	9	1379	c.1116C>T	c.(1114-1116)agC>agT	p.S372S	RP11-395P17.11_ENST00000602939.1_RNA|SLC25A25_ENST00000373068.2_Silent_p.S406S|SLC25A25_ENST00000373066.5_Silent_p.S404S|SLC25A25_ENST00000432073.2_Silent_p.S392S|SLC25A25_ENST00000373069.5_Silent_p.S418S|SLC25A25_ENST00000433501.1_Silent_p.S269S	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	372					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.S406S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						CAGTGAACAGCGCGGACCCCG	0.612																																					p.S269S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C807T	9						.						104.0	104.0	104.0					9																	130869349		2203	4300	6503	129909170	SO:0001819	synonymous_variant	114789	exon9			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.1116C>T	9.37:g.130869349C>T		Somatic		Capture	SOLID	Phase_I	129909170	NM_001006643	Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Silent	SNP	ENST00000373064.5	37	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	C	6.130	0.392266	0.11638	.	.	ENSG00000148339	ENST00000466983	.	.	.	5.33	-6.54	0.01860	.	.	.	.	.	T	0.63498	0.2516	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66752	-0.5844	4	.	.	.	-30.8216	16.1686	0.81788	0.0:0.3742:0.0:0.6258	.	.	.	.	C	110	.	.	R	+	1	0	SLC25A25	129909170	0.000000	0.05858	0.816000	0.32577	0.689000	0.40095	-2.240000	0.01197	-1.183000	0.02723	-0.415000	0.06103	CGC		0.612	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901	
DOLK	22845	hgsc.bcm.edu	37	9	131708488	131708488	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:131708488T>C	ENST00000372586.3	-	1	1410	c.1095A>G	c.(1093-1095)gtA>gtG	p.V365V	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	365					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)	p.V365V(1)		breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCGCCAGGCATACAGTGGCGG	0.537																																					p.V365V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1095G	9						.						115.0	124.0	121.0					9																	131708488		2203	4300	6503	130748309	SO:0001819	synonymous_variant	22845	exon1			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1095A>G	9.37:g.131708488T>C		Somatic		Capture	SOLID	Phase_I	130748309	NM_014908	Q5SRE6	Silent	SNP	ENST00000372586.3	37	CCDS6915.1																																																																																				0.537	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908	
GLIS3	169792	hgsc.bcm.edu	37	9	4118443	4118443	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:4118443C>T	ENST00000324333.10	-	3	763	c.570G>A	c.(568-570)ccG>ccA	p.P190P	GLIS3_ENST00000381971.3_Silent_p.P345P	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	190					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.P190P(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)		CGTAGACCTCCGGCTGCGGGG	0.682																																					p.P190P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G570A	9						.						26.0	23.0	24.0					9																	4118443		2201	4295	6496	4108443	SO:0001819	synonymous_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.570G>A	9.37:g.4118443C>T		Somatic		Capture	SOLID	Phase_I	4108443	NM_152629	B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	CCDS6451.1																																																																																				0.682	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629	
PSIP1	11168	hgsc.bcm.edu	37	9	15468734	15468734	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:15468734T>C	ENST00000380733.4	-	14	1657	c.1314A>G	c.(1312-1314)caA>caG	p.Q438Q	PSIP1_ENST00000380738.4_Silent_p.Q438Q			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	438					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)	p.Q438Q(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TATTCAGCACTTGGGTGATCA	0.388																																					p.Q438Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1314G	9						.						233.0	223.0	227.0					9																	15468734		2203	4300	6503	15458734	SO:0001819	synonymous_variant	11168	exon14			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1314A>G	9.37:g.15468734T>C		Somatic		Capture	SOLID	Phase_I	15458734	NM_001128217	D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Silent	SNP	ENST00000380733.4	37	CCDS6479.1																																																																																				0.388	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222	
FOCAD	54914	hgsc.bcm.edu	37	9	20995590	20995590	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:20995590A>G	ENST00000380249.1	+	46	5732	c.5368A>G	c.(5368-5370)Aag>Gag	p.K1790E	PTPLAD2_ENST00000513293.2_3'UTR|FOCAD_ENST00000605086.1_Missense_Mutation_p.K1226E|FOCAD_ENST00000338382.6_Missense_Mutation_p.K1790E	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1790						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.K1790E(1)									CCCAGAGTTTAAGAAGAAAGC	0.428																																					p.K1790E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5368G	9						.						121.0	115.0	117.0					9																	20995590		2203	4300	6503	20985590	SO:0001583	missense	54914	exon46			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.5368A>G	9.37:g.20995590A>G	ENSP00000369599:p.Lys1790Glu	Somatic		Capture	SOLID	Phase_I	20985590	NM_017794	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148475	0.78001	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.24538	1.85;1.85	5.92	5.92	0.95590	.	0.196730	0.52532	D	0.000063	T	0.39682	0.1087	M	0.70595	2.14	0.80722	D	1	P	0.40398	0.716	P	0.45610	0.487	T	0.28490	-1.0042	10	0.72032	D	0.01	-34.9079	16.0219	0.80503	1.0:0.0:0.0:0.0	.	1790	Q5VW36	K1797_HUMAN	E	1790	ENSP00000369599:K1790E;ENSP00000344307:K1790E	ENSP00000344307:K1790E	K	+	1	0	KIAA1797	20985590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.592000	0.82676	2.260000	0.74910	0.528000	0.53228	AAG		0.428	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	
PRSS3	5646	hgsc.bcm.edu	37	9	33796644	33796644	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:33796644C>T	ENST00000361005.5	+	2	215	c.215C>T	c.(214-216)gCt>gTt	p.A72V	PRSS3_ENST00000342836.4_Missense_Mutation_p.A29V|PRSS3_ENST00000379405.3_Missense_Mutation_p.A15V|PRSS3_ENST00000429677.3_Missense_Mutation_p.A8V|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	72					cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A15V(1)		large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			ACTCCAGTTGCTGTCCCCTTT	0.522																																					p.A15V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C44T	9						.						193.0	182.0	185.0					9																	33796644		2203	4300	6503	33786644	SO:0001583	missense	5646	exon2				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.215C>T	9.37:g.33796644C>T	ENSP00000354280:p.Ala72Val	Somatic		Capture	SOLID	Phase_I	33786644	NM_002771	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556643	0.65425	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.89270	-2.49;-2.28;-2.41;-2.43;-2.44	3.21	2.29	0.28610	Peptidase cysteine/serine, trypsin-like (1);	0.048523	0.85682	D	0.000000	T	0.78233	0.4251	N	0.08118	0	0.50313	D	0.999869	B;P;P	0.42941	0.301;0.564;0.794	B;B;B	0.44224	0.444;0.202;0.444	T	0.75488	-0.3300	10	0.52906	T	0.07	.	8.1922	0.31374	0.0:0.8714:0.0:0.1286	.	15;72;29	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	V	72;27;29;8;15	ENSP00000354280:A72V;ENSP00000401249:A27V;ENSP00000340889:A29V;ENSP00000401828:A8V;ENSP00000368715:A15V	ENSP00000340889:A29V	A	+	2	0	PRSS3	33786644	1.000000	0.71417	0.042000	0.18584	0.096000	0.18686	5.114000	0.64648	0.482000	0.27582	0.306000	0.20318	GCT		0.522	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	
C9orf131	138724	hgsc.bcm.edu	37	9	35044045	35044045	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:35044045C>T	ENST00000312292.5	+	2	1466	c.1419C>T	c.(1417-1419)agC>agT	p.S473S	C9orf131_ENST00000354479.5_Silent_p.S400S|C9orf131_ENST00000421362.2_Silent_p.S425S|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	473								p.S473S(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CACCTCCCAGCCTTCCCTCAG	0.547																																					p.S400S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1200T	9						.						75.0	80.0	79.0					9																	35044045		2203	4300	6503	35034045	SO:0001819	synonymous_variant	138724	exon2			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1419C>T	9.37:g.35044045C>T		Somatic		Capture	SOLID	Phase_I	35034045	NM_001040411	A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	CCDS6572.2																																																																																				0.547	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
UNC13B	10497	hgsc.bcm.edu	37	9	35380483	35380483	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:35380483T>G	ENST00000378495.3	+	17	2197	c.1975T>G	c.(1975-1977)Tct>Gct	p.S659A	UNC13B_ENST00000378496.4_Missense_Mutation_p.S659A|UNC13B_ENST00000396787.1_Missense_Mutation_p.S671A	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	659	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)	p.S659A(1)		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)			CCACAACTCCTCTGACCGCAT	0.498																																					p.S659A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1975G	9						.						119.0	87.0	98.0					9																	35380483		2203	4300	6503	35370483	SO:0001583	missense	10497	exon17			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.1975T>G	9.37:g.35380483T>G	ENSP00000367756:p.Ser659Ala	Somatic		Capture	SOLID	Phase_I	35370483	NM_006377	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.879348	0.91740	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.68765	-0.35;-0.35;-0.35	5.39	5.39	0.77823	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	N	0.19112	0.55	0.58432	D	0.999998	P;B	0.46220	0.874;0.036	D;B	0.63283	0.913;0.05	T	0.74300	-0.3710	10	0.72032	D	0.01	-9.4357	14.5705	0.68208	0.0:0.0:0.0:1.0	.	659;659	F8W8M9;O14795	.;UN13B_HUMAN	A	671;659;659;246	ENSP00000380006:S671A;ENSP00000367756:S659A;ENSP00000367757:S659A	ENSP00000367756:S659A	S	+	1	0	UNC13B	35370483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.121000	0.71602	2.054000	0.61138	0.482000	0.46254	TCT		0.498	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
TLN1	7094	hgsc.bcm.edu	37	9	35720449	35720449	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:35720449C>T	ENST00000314888.9	-	12	1617	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	TLN1_ENST00000540444.1_Missense_Mutation_p.D422N	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	422	Interaction with LAYN. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.D422N(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACACTGAGTCCTCCAGCATA	0.493																																					p.D422N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1264A	9						.						220.0	222.0	221.0					9																	35720449		2203	4300	6503	35710449	SO:0001583	missense	7094	exon12			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1264G>A	9.37:g.35720449C>T	ENSP00000316029:p.Asp422Asn	Somatic		Capture	SOLID	Phase_I	35710449	NM_006289	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602283	0.87055	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70986	-0.52;-0.53	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.71206	2.165	0.80722	D	1	B	0.24043	0.096	B	0.27170	0.077	T	0.69617	-0.5097	10	0.46703	T	0.11	-25.8553	20.1577	0.98120	0.0:1.0:0.0:0.0	.	422	Q9Y490	TLN1_HUMAN	N	422	ENSP00000316029:D422N;ENSP00000442981:D422N	ENSP00000316029:D422N	D	-	1	0	TLN1	35710449	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	GAC		0.493	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	
MELK	9833	hgsc.bcm.edu	37	9	36597229	36597229	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:36597229T>C	ENST00000298048.2	+	6	600	c.416T>C	c.(415-417)cTg>cCg	p.L139P	MELK_ENST00000536987.1_Missense_Mutation_p.L8P|MELK_ENST00000536860.1_Missense_Mutation_p.L91P|MELK_ENST00000545008.1_Intron|MELK_ENST00000536329.1_Missense_Mutation_p.L68P|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000541717.1_Missense_Mutation_p.L139P|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000543751.1_Missense_Mutation_p.L107P	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.L139P(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GAAAATTTGCTGTTTGATGAA	0.343																																					p.L139P	Ovarian(82;980 1317 7225 14391 18624)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T416C	9						.						100.0	101.0	101.0					9																	36597229		2203	4300	6503	36587229	SO:0001583	missense	9833	exon6			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.416T>C	9.37:g.36597229T>C	ENSP00000298048:p.Leu139Pro	Somatic		Capture	SOLID	Phase_I	36587229	NM_014791	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227174	0.79576	.	.	ENSG00000165304	ENST00000298048;ENST00000536987;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T	0.80909	0.31;-1.43;0.31;0.31;0.31;0.31	5.65	5.65	0.86999	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	D	0.94172	0.8130	H	0.99011	4.4	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	0.96512	0.9379	10	0.87932	D	0	-6.9164	16.1864	0.81955	0.0:0.0:0.0:1.0	.	59;91;139;68;107;139	B7Z1G6;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;MELK_HUMAN	P	139;8;91;68;139;107	ENSP00000298048:L139P;ENSP00000439184:L8P;ENSP00000439792:L91P;ENSP00000443550:L68P;ENSP00000437804:L139P;ENSP00000441596:L107P	ENSP00000298048:L139P	L	+	2	0	MELK	36587229	1.000000	0.71417	0.992000	0.48379	0.948000	0.59901	7.120000	0.77153	2.281000	0.76405	0.528000	0.53228	CTG		0.343	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791	
NCBP1	4686	hgsc.bcm.edu	37	9	100423348	100423348	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:100423348A>G	ENST00000375147.3	+	16	1854	c.1598A>G	c.(1597-1599)gAc>gGc	p.D533G		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	533					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)	p.D533G(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				GATGATGACGACGGTAAGTGG	0.378																																					p.D533G	Ovarian(36;879 898 2893 44212 50307)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1598G	9						.						128.0	122.0	124.0					9																	100423348		2203	4300	6503	99463169	SO:0001583	missense	4686	exon16			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1598A>G	9.37:g.100423348A>G	ENSP00000364289:p.Asp533Gly	Somatic		Capture	SOLID	Phase_I	99463169	NM_002486	B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001472	0.35320	.	.	ENSG00000136937	ENST00000375147	.	.	.	5.33	5.33	0.75918	MIF4G-like, type 2 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	L	0.31664	0.95	0.80722	D	1	B	0.16603	0.018	B	0.12156	0.007	T	0.42849	-0.9427	9	0.21014	T	0.42	-23.3324	15.6725	0.77289	1.0:0.0:0.0:0.0	.	533	Q09161	NCBP1_HUMAN	G	533	.	ENSP00000364289:D533G	D	+	2	0	NCBP1	99463169	1.000000	0.71417	0.942000	0.38095	0.914000	0.54420	8.201000	0.89735	2.324000	0.78689	0.533000	0.62120	GAC		0.378	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486	
SH3GLB2	56904	hgsc.bcm.edu	37	9	131770990	131770990	+	Silent	SNP	A	A	G	rs148767802		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr9:131770990A>G	ENST00000372564.3	-	11	1306	c.1161T>C	c.(1159-1161)ccT>ccC	p.P387P	SH3GLB2_ENST00000416629.1_Silent_p.P366P|SH3GLB2_ENST00000417224.1_Silent_p.P392P|SH3GLB2_ENST00000372559.1_Silent_p.P387P|SH3GLB2_ENST00000372554.4_Silent_p.P396P	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	387	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)		p.P387P(1)		NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						AGTAGGTGACAGGGACCTTGC	0.597											OREG0003926	type=REGULATORY REGION|Gene=SH3GLB2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.P387P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1161C	9						.	A		0,4406		0,0,2203	151.0	129.0	137.0		1161	-12.1	0.1	9	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SH3GLB2	NM_020145.2		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		387/396	131770990	1,13005	2203	4300	6503	130810811	SO:0001819	synonymous_variant	56904	exon11			AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"""SH3-domain, GRB2-like, endophilin B2"""			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.1161T>C	9.37:g.131770990A>G		Somatic	1590	Capture	SOLID	Phase_I	130810811	NM_020145	A6NC47|A8MPS4|Q8WY61|Q96JH9	Silent	SNP	ENST00000372564.3	37	CCDS6916.1																																																																																				0.597	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2		
NALCN	259232	hgsc.bcm.edu	37	13	101733921	101733921	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:101733921G>A	ENST00000251127.6	-	34	3923	c.3842C>T	c.(3841-3843)aCg>aTg	p.T1281M		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1281					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.T1281M(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCCAAGCGACGTCACCAGGAG	0.458																																					p.T1281M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3842T	13						.						201.0	156.0	171.0					13																	101733921		2203	4300	6503	100531922	SO:0001583	missense	259232	exon34			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3842C>T	13.37:g.101733921G>A	ENSP00000251127:p.Thr1281Met	Somatic		Capture	SOLID	Phase_I	100531922	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417179	0.62511	.	.	ENSG00000102452	ENST00000251127	D	0.98550	-4.99	5.62	5.62	0.85841	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99026	0.9667	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99827	1.1051	10	0.87932	D	0	.	19.6767	0.95936	0.0:0.0:1.0:0.0	.	1281	Q8IZF0	NALCN_HUMAN	M	1281	ENSP00000251127:T1281M	ENSP00000251127:T1281M	T	-	2	0	NALCN	100531922	1.000000	0.71417	0.976000	0.42696	0.045000	0.14185	9.465000	0.97660	2.634000	0.89283	0.655000	0.94253	ACG		0.458	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
MYO16	23026	hgsc.bcm.edu	37	13	109318304	109318304	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:109318304T>C	ENST00000357550.2	+	1	74	c.33T>C	c.(31-33)ctT>ctC	p.L11L	MYO16_ENST00000251041.5_Silent_p.L11L|MYO16_ENST00000356711.2_Silent_p.L11L	NM_001198950.1	NP_001185879.1			myosin XVI									p.L11L(1)		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)			TAGAGTCCCTTCCCCTTGGCC	0.522																																					p.L33L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T99C	13						.						84.0	75.0	78.0					13																	109318304		2203	4300	6503	108116305	SO:0001819	synonymous_variant	23026	exon2				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.33T>C	13.37:g.109318304T>C		Somatic		Capture	SOLID	Phase_I	108116305	NM_001198950		Silent	SNP	ENST00000357550.2	37	CCDS32008.1																																																																																				0.522	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
TMCO3	55002	hgsc.bcm.edu	37	13	114150242	114150242	+	Missense_Mutation	SNP	G	G	A	rs372910754		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:114150242G>A	ENST00000434316.2	+	2	705	c.346G>A	c.(346-348)Gga>Aga	p.G116R	TMCO3_ENST00000375391.1_Missense_Mutation_p.G116R|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	116						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.G116R(1)		NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	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;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			AGCTGTCTACGGACTGCAGAG	0.507													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19387	0.0		0.0	False		,,,				2504	0.0				p.G116R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G346A	13						.	G	ARG/GLY	0,4406		0,0,2203	36.0	39.0	38.0		346	5.5	0.1	13		38	2,8598	2.2+/-6.3	0,2,4298	no	missense	TMCO3	NM_017905.4	125	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	116/678	114150242	2,13004	2203	4300	6503	113198243	SO:0001583	missense	55002	exon2			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.346G>A	13.37:g.114150242G>A	ENSP00000389399:p.Gly116Arg	Somatic		Capture	SOLID	Phase_I	113198243	NM_017905	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694712	0.68386	0.0	2.33E-4	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.32753	1.44	5.46	5.46	0.80206	.	0.052791	0.85682	D	0.000000	T	0.51024	0.1650	M	0.69823	2.125	0.80722	D	1	D;D	0.64830	0.99;0.994	P;P	0.54965	0.587;0.765	T	0.54268	-0.8319	10	0.72032	D	0.01	-27.1954	19.3579	0.94422	0.0:0.0:1.0:0.0	.	116;116	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	R	116	ENSP00000389399:G116R	ENSP00000364540:G116R	G	+	1	0	TMCO3	113198243	1.000000	0.71417	0.128000	0.21923	0.277000	0.26821	5.296000	0.65698	2.590000	0.87494	0.555000	0.69702	GGA		0.507	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905	
PARP4	143	hgsc.bcm.edu	37	13	25008634	25008634	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:25008634T>C	ENST00000381989.3	-	31	4750	c.4645A>G	c.(4645-4647)Atc>Gtc	p.I1549V		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1549					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I1549V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAGCACAGGATACTGTCATCT	0.398																																					p.I1549V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4645G	13						.						147.0	133.0	138.0					13																	25008634		2203	4300	6503	23906634	SO:0001583	missense	143	exon31			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4645A>G	13.37:g.25008634T>C	ENSP00000371419:p.Ile1549Val	Somatic		Capture	SOLID	Phase_I	23906634	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	t	0.006	-2.117528	0.00349	.	.	ENSG00000102699	ENST00000381989	T	0.01705	4.68	2.72	-2.51	0.06365	.	4.260630	0.03305	U	0.189648	T	0.01222	0.0040	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.42666	-0.9438	10	0.02654	T	1	6.5196	3.3419	0.07122	0.4082:0.0:0.2094:0.3824	.	1549	Q9UKK3	PARP4_HUMAN	V	1549	ENSP00000371419:I1549V	ENSP00000371419:I1549V	I	-	1	0	PARP4	23906634	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.125000	0.03257	-0.598000	0.05806	0.260000	0.18958	ATC		0.398	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
RNF6	6049	hgsc.bcm.edu	37	13	26788645	26788645	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:26788645A>G	ENST00000381588.4	-	5	2126	c.1374T>C	c.(1372-1374)agT>agC	p.S458S	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Silent_p.S458S|RNF6_ENST00000381570.3_Silent_p.S458S|RNF6_ENST00000399762.2_Silent_p.S102S	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	458					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S458S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTGTTATGGTACTAACATAGG	0.443																																					p.S458S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1374C	13						.						100.0	98.0	99.0					13																	26788645		2203	4300	6503	25686645	SO:0001819	synonymous_variant	6049	exon5			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1374T>C	13.37:g.26788645A>G		Somatic		Capture	SOLID	Phase_I	25686645	NM_005977	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Silent	SNP	ENST00000381588.4	37	CCDS9316.1																																																																																				0.443	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977	
FLT1	2321	hgsc.bcm.edu	37	13	28903839	28903839	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:28903839C>T	ENST00000282397.4	-	19	2871	c.2620G>A	c.(2620-2622)Gct>Act	p.A874T	FLT1_ENST00000540678.1_Missense_Mutation_p.A92T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	874	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|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 phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.A874T(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCATCAGAGCTTTGTACTCG	0.572																																					p.A874T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2620A	13						.						139.0	119.0	126.0					13																	28903839		2203	4300	6503	27801839	SO:0001583	missense	2321	exon19			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2620G>A	13.37:g.28903839C>T	ENSP00000282397:p.Ala874Thr	Somatic		Capture	SOLID	Phase_I	27801839	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	36	5.696823	0.96802	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	D;D	0.83419	-1.72;-1.72	6.02	6.02	0.97574	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89150	0.6633	L	0.42632	1.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89051	0.3455	10	0.87932	D	0	.	20.5269	0.99230	0.0:1.0:0.0:0.0	.	874	P17948	VGFR1_HUMAN	T	874;92	ENSP00000282397:A874T;ENSP00000443311:A92T	ENSP00000282397:A874T	A	-	1	0	FLT1	27801839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.720000	0.84759	2.859000	0.98148	0.591000	0.81541	GCT		0.572	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
RXFP2	122042	hgsc.bcm.edu	37	13	32367140	32367140	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:32367140T>C	ENST00000298386.2	+	16	1772	c.1701T>C	c.(1699-1701)taT>taC	p.Y567Y	RXFP2_ENST00000380314.1_Silent_p.Y543Y	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	567					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.Y567Y(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)		GAAACTTTTATGGGAAAAATG	0.343																																					p.Y543Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1629C	13						.						45.0	49.0	47.0					13																	32367140		2203	4300	6503	31265140	SO:0001819	synonymous_variant	122042	exon15			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.1701T>C	13.37:g.32367140T>C		Somatic		Capture	SOLID	Phase_I	31265140	NM_001166058	B1ALE9|Q3KU23	Silent	SNP	ENST00000298386.2	37	CCDS9342.1																																																																																				0.343	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806	
CCDC122	160857	hgsc.bcm.edu	37	13	44433922	44433922	+	Silent	SNP	T	T	C	rs200119263		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:44433922T>C	ENST00000444614.3	-	5	699	c.441A>G	c.(439-441)tcA>tcG	p.S147S	CCDC122_ENST00000281508.3_Silent_p.S147S|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	147								p.S147S(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		CAGTCATAAATGACCATTTGC	0.323													T|||	1	0.000199681	0.0008	0.0	5008	,	,		16393	0.0		0.0	False		,,,				2504	0.0				p.S147S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A441G	13						.						140.0	135.0	137.0					13																	44433922		2203	4299	6502	43331922	SO:0001819	synonymous_variant	160857	exon5			AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.441A>G	13.37:g.44433922T>C		Somatic		Capture	SOLID	Phase_I	43331922	NM_144974	B2RP70|B7ZMI9|Q96MV0	Silent	SNP	ENST00000444614.3	37	CCDS9390.2																																																																																				0.323	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276172.4	NM_144974	
ZC3H13	23091	hgsc.bcm.edu	37	13	46549627	46549627	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:46549627T>G	ENST00000242848.4	-	12	2607	c.2259A>C	c.(2257-2259)agA>agC	p.R753S	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R753S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	753	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R753S(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)		ctctctcttctctttctcgtt	0.522																																					p.R753S	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2259C	13						.						186.0	150.0	162.0					13																	46549627		2203	4299	6502	45447628	SO:0001583	missense	23091	exon12			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.2259A>C	13.37:g.46549627T>G	ENSP00000242848:p.Arg753Ser	Somatic		Capture	SOLID	Phase_I	45447628	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	T	11.49	1.655303	0.29425	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.38722	2.1;1.12	5.19	0.957	0.19613	.	0.320112	0.21306	N	0.076729	T	0.51975	0.1706	.	.	.	0.80722	D	1	D;D	0.61080	0.981;0.989	D;D	0.75020	0.966;0.985	T	0.48445	-0.9035	9	0.38643	T	0.18	.	3.286	0.06932	0.0:0.3823:0.2318:0.386	.	753;753	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	S	753	ENSP00000242848:R753S;ENSP00000282007:R753S	ENSP00000242848:R753S	R	-	3	2	ZC3H13	45447628	1.000000	0.71417	0.997000	0.53966	0.802000	0.45316	0.683000	0.25349	0.359000	0.24239	0.455000	0.32223	AGA		0.522	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
LCP1	3936	hgsc.bcm.edu	37	13	46704955	46704955	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:46704955T>C	ENST00000398576.2	-	18	2133	c.1745A>G	c.(1744-1746)aAt>aGt	p.N582S	LCP1_ENST00000323076.2_Missense_Mutation_p.N582S|LCP1_ENST00000435666.2_Missense_Mutation_p.N151S			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	582	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.N582S(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05)		GTACTTTGCATTGTTGAGTTT	0.418			T	BCL6	NHL																																p.N582S			Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1745G	13						.						192.0	184.0	187.0					13																	46704955		2203	4300	6503	45602956	SO:0001583	missense	3936	exon15			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1745A>G	13.37:g.46704955T>C	ENSP00000381581:p.Asn582Ser	Somatic		Capture	SOLID	Phase_I	45602956	NM_002298	B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519145	0.85495	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.97710	-4.5;-4.5;-4.5	5.36	5.36	0.76844	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	M	0.92412	3.305	0.80722	D	1	D;B	0.56035	0.974;0.127	D;B	0.64321	0.924;0.245	D	0.99643	1.0989	10	0.87932	D	0	-23.7722	14.8295	0.70137	0.0:0.0:0.0:1.0	.	151;582	B4DUA0;P13796	.;PLSL_HUMAN	S	582;582;151	ENSP00000315757:N582S;ENSP00000381581:N582S;ENSP00000405134:N151S	ENSP00000315757:N582S	N	-	2	0	LCP1	45602956	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.983000	0.88140	2.159000	0.67721	0.496000	0.49642	AAT		0.418	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298	
VPS36	51028	hgsc.bcm.edu	37	13	52992163	52992163	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:52992163G>A	ENST00000378060.4	-	11	896	c.869C>T	c.(868-870)gCg>gTg	p.A290V		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	290					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.A290V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CATCTTGCACGCATTCACTAA	0.398																																					p.A290V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C869T	13						.						87.0	77.0	80.0					13																	52992163		2203	4300	6503	51890164	SO:0001583	missense	51028	exon11			AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.869C>T	13.37:g.52992163G>A	ENSP00000367299:p.Ala290Val	Somatic		Capture	SOLID	Phase_I	51890164	NM_016075	A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	SNP	ENST00000378060.4	37	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	34	5.311118	0.95629	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.85712	0.5760	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87731	0.2579	9	0.62326	D	0.03	-21.6969	18.7353	0.91751	0.0:0.0:1.0:0.0	.	290	Q86VN1	VPS36_HUMAN	V	290	.	ENSP00000367299:A290V	A	-	2	0	VPS36	51890164	1.000000	0.71417	0.961000	0.40146	0.940000	0.58332	9.231000	0.95317	2.653000	0.90120	0.561000	0.74099	GCG		0.398	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3		
KLF5	688	hgsc.bcm.edu	37	13	73649860	73649860	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:73649860A>G	ENST00000377687.4	+	4	1746	c.1210A>G	c.(1210-1212)Aag>Gag	p.K404E	KLF5_ENST00000539231.1_Missense_Mutation_p.K313E	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	404					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)	p.K404E(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AAAGCCATACAAGTGTACCTG	0.532																																					p.K404E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1210G	13						.						129.0	132.0	131.0					13																	73649860		2203	4300	6503	72547861	SO:0001583	missense	688	exon4			D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1210A>G	13.37:g.73649860A>G	ENSP00000366915:p.Lys404Glu	Somatic		Capture	SOLID	Phase_I	72547861	NM_001730	L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188671	0.78789	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.35973	1.28;1.28	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.112285	0.64402	D	0.000016	T	0.47210	0.1433	L	0.42744	1.35	0.50813	D	0.999893	D	0.61697	0.99	P	0.54759	0.76	T	0.44360	-0.9333	10	0.72032	D	0.01	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	404	Q13887	KLF5_HUMAN	E	313;404;384	ENSP00000440407:K313E;ENSP00000366915:K404E	ENSP00000366915:K404E	K	+	1	0	KLF5	72547861	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.246000	0.43142	2.326000	0.78906	0.533000	0.62120	AAG		0.532	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1		
LMO7	4008	hgsc.bcm.edu	37	13	76195903	76195903	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:76195903C>G	ENST00000341547.4	+	1	1334	c.74C>G	c.(73-75)aCa>aGa	p.T25R	RP11-173B14.5_ENST00000568302.1_RNA|RP11-173B14.5_ENST00000568735.1_RNA|LMO7_ENST00000377534.3_Missense_Mutation_p.T25R|LMO7_ENST00000357063.3_Missense_Mutation_p.T25R|RP11-29G8.3_ENST00000563635.1_RNA	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	25					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T25R(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCCAGAGAACAGAGCTCGGA	0.393																																					p.T25R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C74G	13						.						78.0	77.0	78.0					13																	76195903		2203	4300	6503	75093904	SO:0001583	missense	4008	exon1			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.74C>G	13.37:g.76195903C>G	ENSP00000342112:p.Thr25Arg	Somatic		Capture	SOLID	Phase_I	75093904	NM_005358	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652033	0.29336	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534	T;T;T	0.58940	0.3;0.3;0.3	4.34	1.6	0.23607	.	3.784860	0.01358	N	0.012131	T	0.46889	0.1416	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.35624	-0.9781	9	0.87932	D	0	.	4.0077	0.09608	0.0:0.5793:0.1971:0.2235	.	25	Q8WWI1-3	.	R	25	ENSP00000342112:T25R;ENSP00000349571:T25R;ENSP00000366757:T25R	ENSP00000342112:T25R	T	+	2	0	LMO7	75093904	0.044000	0.20184	0.013000	0.15412	0.140000	0.21249	0.150000	0.16263	0.117000	0.18138	0.655000	0.94253	ACA		0.393	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358	
SLITRK5	26050	hgsc.bcm.edu	37	13	88328684	88328684	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:88328684G>A	ENST00000325089.6	+	2	1260	c.1041G>A	c.(1039-1041)cgG>cgA	p.R347R	SLITRK5_ENST00000400028.3_Silent_p.R106R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	347					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.R347R(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCACCTCTCGGCAGCCCTCTA	0.592																																					p.R347R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1041A	13						.						59.0	62.0	61.0					13																	88328684		2203	4300	6503	87126685	SO:0001819	synonymous_variant	26050	exon2			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1041G>A	13.37:g.88328684G>A		Somatic		Capture	SOLID	Phase_I	87126685	NM_015567	B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	CCDS9465.1																																																																																				0.592	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3		
GPC6	10082	hgsc.bcm.edu	37	13	94197639	94197639	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:94197639G>A	ENST00000377047.4	+	2	899	c.284G>A	c.(283-285)cGc>cAc	p.R95H		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	95					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.R95H(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)				CATTTTGTGCGCACCACTTTT	0.398																																					p.R95H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G284A	13						.						152.0	145.0	147.0					13																	94197639		2203	4300	6503	92995640	SO:0001583	missense	10082	exon2			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.284G>A	13.37:g.94197639G>A	ENSP00000366246:p.Arg95His	Somatic		Capture	SOLID	Phase_I	92995640	NM_005708	A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172925	0.78452	.	.	ENSG00000183098	ENST00000377047	T	0.52526	0.66	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000002	T	0.60856	0.2301	L	0.48362	1.52	0.45366	D	0.998359	D;P	0.64830	0.994;0.727	P;B	0.60789	0.879;0.233	T	0.61950	-0.6957	10	0.54805	T	0.06	.	18.8368	0.92165	0.0:0.0:1.0:0.0	.	95;95	B4E2M1;Q9Y625	.;GPC6_HUMAN	H	95	ENSP00000366246:R95H	ENSP00000366246:R95H	R	+	2	0	GPC6	92995640	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	9.173000	0.94815	2.518000	0.84900	0.644000	0.83932	CGC		0.398	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708	
TFDP1	7027	hgsc.bcm.edu	37	13	114265354	114265354	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr13:114265354A>G	ENST00000375370.5	+	3	268	c.56A>G	c.(55-57)gAc>gGc	p.D19G	TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_5'UTR|TFDP1_ENST00000538138.1_5'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	19					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.D19G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GTCTTCATAGACCAGAACCTT	0.448										TSP Lung(29;0.18)																											p.D19G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A56G	13						.						182.0	170.0	174.0					13																	114265354		2203	4300	6503	113313355	SO:0001583	missense	7027	exon3			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.56A>G	13.37:g.114265354A>G	ENSP00000364519:p.Asp19Gly	Somatic		Capture	SOLID	Phase_I	113313355	NM_007111	B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	a	19.70	3.876011	0.72180	.	.	ENSG00000198176	ENST00000375370;ENST00000408980;ENST00000453989	T;T;T	0.39997	1.55;1.14;1.05	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.71581	2.175	0.80722	D	1	P;D;D	0.89917	0.956;1.0;0.982	B;D;P	0.83275	0.3;0.996;0.591	T	0.62859	-0.6765	10	0.62326	D	0.03	.	9.7957	0.40733	1.0:0.0:0.0:0.0	.	19;19;19	Q5JSB5;Q5JSB6;Q14186	.;.;TFDP1_HUMAN	G	19	ENSP00000364519:D19G;ENSP00000386145:D19G;ENSP00000401389:D19G	ENSP00000364519:D19G	D	+	2	0	TFDP1	113313355	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.173000	0.71937	1.572000	0.49736	0.398000	0.26397	GAC		0.448	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111	
ARL3	403	hgsc.bcm.edu	37	10	104459169	104459169	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:104459169T>C	ENST00000260746.5	-	3	356	c.225A>G	c.(223-225)agA>agG	p.R75R		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	75					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|photoreceptor cell development (GO:0042461)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|spindle microtubule (GO:0005876)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)	p.R75R(1)		large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		TCCAGTATGGTCTGATTTTCC	0.358																																					p.R75R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A225G	10						.						166.0	152.0	156.0					10																	104459169		2203	4300	6503	104449159	SO:0001819	synonymous_variant	403	exon3			U07151	CCDS7538.1	10q23.3	2014-05-09			ENSG00000138175	ENSG00000138175		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	694	protein-coding gene	gene with protein product		604695				8034651, 10072593	Standard	NM_004311		Approved	ARFL3	uc001kwa.3	P36405	OTTHUMG00000018965	ENST00000260746.5:c.225A>G	10.37:g.104459169T>C		Somatic		Capture	SOLID	Phase_I	104449159	NM_004311	B2R6C7|Q53X83|Q5JSM2	Silent	SNP	ENST00000260746.5	37	CCDS7538.1																																																																																				0.358	ARL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050088.2	NM_004311	
HABP2	3026	hgsc.bcm.edu	37	10	115336949	115336949	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:115336949A>G	ENST00000351270.3	+	5	468	c.372A>G	c.(370-372)caA>caG	p.Q124Q	HABP2_ENST00000541666.1_Silent_p.Q124Q|HABP2_ENST00000537906.1_Missense_Mutation_p.N113S|HABP2_ENST00000542051.1_Silent_p.Q98Q	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	124	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.Q124Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	GCCGGGGCCAATGTCTCATTA	0.507																																					p.Q98Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A294G	10						.						164.0	138.0	147.0					10																	115336949		2203	4300	6503	115326939	SO:0001819	synonymous_variant	3026	exon5				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.372A>G	10.37:g.115336949A>G		Somatic		Capture	SOLID	Phase_I	115326939	NM_001177660	A8K467|B7Z8U5|F5H5M6|O00663	Silent	SNP	ENST00000351270.3	37	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.242196	0.39598	.	.	ENSG00000148702	ENST00000537906	.	.	.	5.65	-1.22	0.09494	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.19945	N	0.999941	B	0.24721	0.11	B	0.26310	0.068	T	0.33240	-0.9876	7	0.87932	D	0	.	0.285	0.00250	0.2978:0.2754:0.1671:0.2597	.	113	F5H475	.	S	113	.	ENSP00000446135:N113S	N	+	2	0	HABP2	115326939	0.999000	0.42202	0.777000	0.31699	0.924000	0.55760	0.469000	0.22067	-0.485000	0.06754	-0.327000	0.08410	AAT		0.507	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132	
ABLIM1	3983	hgsc.bcm.edu	37	10	116417865	116417865	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:116417865G>A	ENST00000277895.5	-	1	192	c.95C>T	c.(94-96)tCg>tTg	p.S32L	snoU13_ENST00000458910.1_RNA|ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369252.4_Intron	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	32					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.S32L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTTCTGTTCGAGCCCCTGGC	0.527																																					p.S32L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C95T	10						.						94.0	94.0	94.0					10																	116417865		2203	4300	6503	116407855	SO:0001583	missense	3983	exon1			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.95C>T	10.37:g.116417865G>A	ENSP00000277895:p.Ser32Leu	Somatic		Capture	SOLID	Phase_I	116407855	NM_002313	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434077	0.62955	.	.	ENSG00000099204	ENST00000336585;ENST00000369262;ENST00000277895	T	0.32515	1.45	5.77	3.93	0.45458	.	1.559170	0.04325	N	0.351415	T	0.23965	0.0580	N	0.14661	0.345	0.25017	N	0.991367	B	0.09022	0.002	B	0.04013	0.001	T	0.30179	-0.9987	10	0.87932	D	0	.	10.4943	0.44768	0.1483:0.0:0.8517:0.0	.	32	O14639	ABLM1_HUMAN	L	32	ENSP00000277895:S32L	ENSP00000277895:S32L	S	-	2	0	ABLIM1	116407855	0.997000	0.39634	0.095000	0.20976	0.018000	0.09664	2.859000	0.48364	0.805000	0.34159	0.650000	0.86243	TCG		0.527	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		
PLEKHA1	59338	hgsc.bcm.edu	37	10	124189326	124189326	+	Missense_Mutation	SNP	C	C	G	rs141904579	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:124189326C>G	ENST00000368990.3	+	12	1218	c.1087C>G	c.(1087-1089)Cca>Gca	p.P363A	PLEKHA1_ENST00000368988.1_Silent_p.L376L|PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000368989.2_Silent_p.L376L|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.P363A	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	363					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)	p.P363A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACTGTCTCTCCAAGAGAACC	0.463																																					p.P363A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1087G	10						.						94.0	89.0	90.0					10																	124189326		2203	4300	6503	124179316	SO:0001583	missense	59338	exon12			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.1087C>G	10.37:g.124189326C>G	ENSP00000357986:p.Pro363Ala	Somatic		Capture	SOLID	Phase_I	124179316	NM_001001974	B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	C	1.036	-0.680446	0.03353	.	.	ENSG00000107679	ENST00000368990;ENST00000409427;ENST00000433307	T;T	0.04917	3.53;3.53	5.44	1.27	0.21489	.	1.265230	0.05124	N	0.491296	T	0.03011	0.0089	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47971	-0.9075	10	0.02654	T	1	-1.0298	5.2249	0.15389	0.1128:0.3177:0.4395:0.1301	.	363	Q9HB21	PKHA1_HUMAN	A	363	ENSP00000357986:P363A;ENSP00000394416:P363A	ENSP00000357986:P363A	P	+	1	0	PLEKHA1	124179316	0.966000	0.33281	0.998000	0.56505	0.999000	0.98932	-0.037000	0.12164	0.036000	0.15547	0.650000	0.86243	CCA		0.463	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974	
HTRA1	5654	hgsc.bcm.edu	37	10	124268259	124268259	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:124268259A>G	ENST00000368984.3	+	6	1221	c.1093A>G	c.(1093-1095)Acg>Gcg	p.T365A		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	365	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.T365A(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AAAGTTCCTCACGGAGTCCCA	0.517																																					p.T365A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1093G	10						.						104.0	107.0	106.0					10																	124268259		2203	4300	6503	124258249	SO:0001583	missense	5654	exon6			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1093A>G	10.37:g.124268259A>G	ENSP00000357980:p.Thr365Ala	Somatic		Capture	SOLID	Phase_I	124258249	NM_002775	D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	37	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	A	0.798	-0.756384	0.03019	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	T;T	0.14766	2.48;2.48	5.16	5.16	0.70880	Peptidase cysteine/serine, trypsin-like (1);PDZ/DHR/GLGF (1);	0.112142	0.64402	D	0.000006	T	0.03011	0.0089	N	0.00387	-1.565	0.45161	D	0.998178	B	0.02656	0.0	B	0.01281	0.0	T	0.33163	-0.9879	10	0.06099	T	0.92	-7.9539	9.5163	0.39106	0.921:0.0:0.079:0.0	.	365	Q92743	HTRA1_HUMAN	A	365;332;106	ENSP00000357980:T365A;ENSP00000412676:T106A	ENSP00000357980:T365A	T	+	1	0	HTRA1	124258249	1.000000	0.71417	0.326000	0.25389	0.462000	0.32619	4.154000	0.58125	1.952000	0.56665	0.533000	0.62120	ACG		0.517	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775	
EDRF1	26098	hgsc.bcm.edu	37	10	127426925	127426925	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:127426925G>T	ENST00000356792.4	+	15	2124	c.1892G>T	c.(1891-1893)aGc>aTc	p.S631I	C10orf137_ENST00000337623.3_Missense_Mutation_p.S597I	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S597I(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)				GCTGACCCCAGCACTCCAATC	0.428																																					p.S597I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1790T	10						.						76.0	84.0	82.0					10																	127426925		2203	4300	6503	127416915	SO:0001583	missense	26098	exon14																														ENST00000356792.4:c.1892G>T	10.37:g.127426925G>T	ENSP00000349244:p.Ser631Ile	Somatic		Capture	SOLID	Phase_I	127416915	NM_015608	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423754	0.25639	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623;ENST00000368813	T	0.48522	0.81	5.01	0.441	0.16577	.	0.404586	0.32175	N	0.006472	T	0.44201	0.1282	N	0.19112	0.55	0.41397	D	0.987654	D;B;B;B	0.57571	0.98;0.078;0.226;0.032	P;B;B;B	0.56700	0.804;0.054;0.246;0.037	T	0.41556	-0.9502	10	0.51188	T	0.08	.	12.8715	0.57968	0.261:0.0:0.739:0.0	.	631;631;597;631	F8W695;Q3B7T1;Q3B7T1-5;Q3B7T1-3	.;EDRF1_HUMAN;.;.	I	631;631;597;51	ENSP00000357803:S51I	ENSP00000336727:S597I	S	+	2	0	C10orf137	127416915	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.924000	0.28777	0.206000	0.20587	0.585000	0.79938	AGC		0.428	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		
C10orf90	118611	hgsc.bcm.edu	37	10	128193110	128193110	+	Missense_Mutation	SNP	C	C	T	rs369459666		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:128193110C>T	ENST00000284694.7	-	3	779	c.659G>A	c.(658-660)cGc>cAc	p.R220H	C10orf90_ENST00000392694.1_Missense_Mutation_p.R173H|C10orf90_ENST00000454341.1_Missense_Mutation_p.R220H|C10orf90_ENST00000356858.3_Missense_Mutation_p.R173H|C10orf90_ENST00000544758.1_Missense_Mutation_p.R317H|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	220	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R220H(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CCAGTACTTGCGTCTCTCACA	0.562											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R220H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G659A	10						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	74.0	73.0		659	-4.2	0.0	10		73	0,8600		0,0,4300	no	missense	C10orf90	NM_001004298.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	220/700	128193110	1,13005	2203	4300	6503	128183100	SO:0001583	missense	118611	exon3			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.659G>A	10.37:g.128193110C>T	ENSP00000284694:p.Arg220His	Somatic	1563	Capture	SOLID	Phase_I	128183100	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	9.092	1.002090	0.19121	2.27E-4	0.0	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.22539	2.28;2.28;2.27;2.28;1.95	5.0	-4.18	0.03846	.	1.025660	0.07745	N	0.947590	T	0.08492	0.0211	N	0.02916	-0.46	0.09310	N	1	B;B;B;B;B	0.18610	0.004;0.029;0.011;0.004;0.004	B;B;B;B;B	0.12156	0.002;0.005;0.007;0.002;0.002	T	0.42275	-0.9461	10	0.13853	T	0.58	-1.7765	14.364	0.66792	0.0:0.7039:0.0:0.2961	.	317;317;173;220;220	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	H	173;220;220;317;220;173;173	ENSP00000284694:R220H;ENSP00000398786:R220H;ENSP00000444369:R317H;ENSP00000405995:R220H;ENSP00000376459:R173H	ENSP00000284694:R220H	R	-	2	0	C10orf90	128183100	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.604000	0.05667	-1.025000	0.03334	-0.140000	0.14226	CGC		0.562	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
LARP4B	23185	hgsc.bcm.edu	37	10	890939	890939	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:890939T>G	ENST00000316157.3	-	5	527	c.487A>C	c.(487-489)Aca>Cca	p.T163P		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AATTCCAATGTTTTTTTAAGT	0.353																																					p.T163P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A487C	10						.						127.0	120.0	122.0					10																	890939		2203	4300	6503	880939	SO:0001583	missense	23185	exon5			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.487A>C	10.37:g.890939T>G	ENSP00000326128:p.Thr163Pro	Somatic		Capture	SOLID	Phase_I	880939	NM_015155	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.585596	0.66105	.	.	ENSG00000107929	ENST00000316157	T	0.43688	0.94	5.65	5.65	0.86999	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	N	0.22421	0.69	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.57039	-0.7879	10	0.72032	D	0.01	-19.1071	16.1611	0.81712	0.0:0.0:0.0:1.0	.	163	Q92615	LAR4B_HUMAN	P	163	ENSP00000326128:T163P	ENSP00000326128:T163P	T	-	1	0	LARP4B	880939	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.550000	0.53691	2.272000	0.75746	0.460000	0.39030	ACA		0.353	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155	
PFKP	5214	hgsc.bcm.edu	37	10	3172158	3172158	+	Missense_Mutation	SNP	G	G	A	rs148701004		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:3172158G>A	ENST00000381125.4	+	17	1907	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	PFKP_ENST00000381075.2_Missense_Mutation_p.D603N|PFKP_ENST00000381072.1_Missense_Mutation_p.D29N	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	611	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)	p.D611N(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGAGCCCTTCGACATCAGGGA	0.612																																					p.D611N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1831A	10						.	G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	43.0	38.0	40.0		1807,1831	3.4	0.2	10	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PFKP	NM_001242339.1,NM_002627.4	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	603/777,611/785	3172158	1,13005	2203	4300	6503	3162158	SO:0001583	missense	5214	exon17			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1831G>A	10.37:g.3172158G>A	ENSP00000370517:p.Asp611Asn	Somatic		Capture	SOLID	Phase_I	3162158	NM_002627	B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	1.271	-0.613117	0.03690	0.0	1.16E-4	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	T;T;T	0.81330	-1.48;-1.48;-1.48	4.33	3.43	0.39272	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	N	0.25825	0.765	0.51233	D	0.999918	B;B;B	0.24368	0.028;0.028;0.102	B;B;B	0.24541	0.054;0.054;0.031	T	0.57745	-0.7758	10	0.13853	T	0.58	.	12.3873	0.55338	0.083:0.0:0.917:0.0	.	603;603;611	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	N	611;600;603;29	ENSP00000370517:D611N;ENSP00000370465:D603N;ENSP00000370462:D29N	ENSP00000370462:D29N	D	+	1	0	PFKP	3162158	1.000000	0.71417	0.187000	0.23214	0.048000	0.14542	3.968000	0.56809	0.822000	0.34565	-0.368000	0.07277	GAC		0.612	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627	
RBM17	84991	hgsc.bcm.edu	37	10	6154312	6154312	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:6154312G>A	ENST00000446108.1	+	8	1488	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	RBM17_ENST00000379888.4_Missense_Mutation_p.A282T	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	282	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A282T(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CGTGGGCGACGCCACAGAGAA	0.602																																					p.A282T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G844A	10						.						43.0	35.0	38.0					10																	6154312		2203	4300	6503	6194318	SO:0001583	missense	84991	exon8			AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.844G>A	10.37:g.6154312G>A	ENSP00000388638:p.Ala282Thr	Somatic		Capture	SOLID	Phase_I	6194318	NM_032905	Q96GY6	Missense_Mutation	SNP	ENST00000446108.1	37	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.826089	0.32237	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	5.58	4.62	0.57501	.	0.346611	0.34002	N	0.004345	T	0.33527	0.0866	L	0.29908	0.895	0.29090	N	0.882173	B	0.18863	0.031	B	0.14023	0.01	T	0.10291	-1.0636	9	0.12430	T	0.62	-7.3497	13.8873	0.63717	0.0:0.0:0.7227:0.2773	.	282	Q96I25	SPF45_HUMAN	T	282	.	ENSP00000369218:A282T	A	+	1	0	RBM17	6194318	0.278000	0.24230	0.033000	0.17914	0.361000	0.29550	1.790000	0.38734	2.623000	0.88846	0.462000	0.41574	GCC		0.602	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905	
OPTN	10133	hgsc.bcm.edu	37	10	13167996	13167996	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:13167996A>G	ENST00000378748.3	+	12	1561	c.1199A>G	c.(1198-1200)cAt>cGt	p.H400R	OPTN_ENST00000378764.2_Missense_Mutation_p.H394R|OPTN_ENST00000378752.3_Missense_Mutation_p.H394R|OPTN_ENST00000263036.5_Missense_Mutation_p.H400R|OPTN_ENST00000378747.3_Missense_Mutation_p.H400R|OPTN_ENST00000378757.2_Missense_Mutation_p.H400R	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	400					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)	p.H400R(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CTTCAAGAACATAATAATGCA	0.313																																					p.H400R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1199G	10						.						79.0	78.0	78.0					10																	13167996		2203	4299	6502	13208002	SO:0001583	missense	10133	exon10			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.1199A>G	10.37:g.13167996A>G	ENSP00000368022:p.His400Arg	Somatic		Capture	SOLID	Phase_I	13208002	NM_021980	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	37	CCDS7094.1	.	.	.	.	.	.	.	.	.	.	A	8.021	0.759541	0.15846	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.87103	-2.2;-2.21;-2.2;-2.21;-2.2;-2.2	5.57	5.57	0.84162	.	0.329091	0.37809	N	0.001921	D	0.82536	0.5058	L	0.47716	1.5	0.09310	N	0.999995	P;P	0.44195	0.828;0.736	B;B	0.41332	0.354;0.282	T	0.77670	-0.2501	10	0.49607	T	0.09	-3.8413	9.333	0.38034	0.8403:0.0:0.0:0.1597	.	394;400	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	R	400;394;400;394;400;400	ENSP00000263036:H400R;ENSP00000368040:H394R;ENSP00000368032:H400R;ENSP00000368027:H394R;ENSP00000368022:H400R;ENSP00000368021:H400R	ENSP00000263036:H400R	H	+	2	0	OPTN	13208002	0.815000	0.29118	0.210000	0.23637	0.050000	0.14768	1.971000	0.40530	2.239000	0.73571	0.528000	0.53228	CAT		0.313	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980	
BEND7	222389	hgsc.bcm.edu	37	10	13481380	13481380	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:13481380T>C	ENST00000396900.2	-	9	1351	c.1352A>G	c.(1351-1353)gAg>gGg	p.E451G	BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000341083.3_Missense_Mutation_p.E400G			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	451						extracellular vesicular exosome (GO:0070062)		p.E400G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						ATGCTGCTCCTCCCAGGGTTC	0.537																																					p.E400G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1199G	10						.						173.0	154.0	160.0					10																	13481380		2203	4300	6503	13521386	SO:0001583	missense	222389	exon9			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1352A>G	10.37:g.13481380T>C	ENSP00000380108:p.Glu451Gly	Somatic		Capture	SOLID	Phase_I	13521386	NM_152751	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37		.	.	.	.	.	.	.	.	.	.	T	7.065	0.567068	0.13560	.	.	ENSG00000165626	ENST00000396900;ENST00000341083	T;T	0.51817	0.7;0.69	2.33	-4.67	0.03319	.	.	.	.	.	T	0.23289	0.0563	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16247	-1.0409	9	0.87932	D	0	.	6.8877	0.24212	0.0:0.6072:0.1531:0.2397	.	400	Q8N7W2-3	.	G	451;400	ENSP00000380108:E451G;ENSP00000345773:E400G	ENSP00000345773:E400G	E	-	2	0	BEND7	13521386	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.040000	0.12104	-2.026000	0.00934	-0.337000	0.08149	GAG		0.537	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751	
FAM171A1	221061	hgsc.bcm.edu	37	10	15325986	15325986	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:15325986G>A	ENST00000378116.4	-	2	222	c.216C>T	c.(214-216)ggC>ggT	p.G72G		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	72						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G72G(1)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TAAAGGCGACGCCATCAGTCC	0.577																																					p.G72G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C216T	10						.						83.0	72.0	76.0					10																	15325986		2203	4300	6503	15365992	SO:0001819	synonymous_variant	221061	exon2			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.216C>T	10.37:g.15325986G>A		Somatic		Capture	SOLID	Phase_I	15365992	NM_001010924	D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	CCDS31154.1																																																																																				0.577	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709	
KIAA1217	56243	hgsc.bcm.edu	37	10	24790430	24790430	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:24790430G>A	ENST00000376454.3	+	9	1987	c.1957G>A	c.(1957-1959)Gtg>Atg	p.V653M	KIAA1217_ENST00000396445.1_Missense_Mutation_p.V336M|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V336M|KIAA1217_ENST00000376451.2_Missense_Mutation_p.V336M|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V618M|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V336M|KIAA1217_ENST00000376462.1_Missense_Mutation_p.V573M|KIAA1217_ENST00000430453.2_Missense_Mutation_p.V539M|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V618M	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	653					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.V653M(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAGGCGGAGCGTGGCGGAACT	0.627																																					p.V653M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1957A	10						.						76.0	68.0	71.0					10																	24790430		2203	4300	6503	24830436	SO:0001583	missense	56243	exon9			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1957G>A	10.37:g.24790430G>A	ENSP00000365637:p.Val653Met	Somatic		Capture	SOLID	Phase_I	24830436	NM_019590	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168435	0.94768	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.71	5.71	0.89125	.	0.174590	0.50627	N	0.000119	T	0.69477	0.3115	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;1.0;0.999;0.998;0.999	T	0.70215	-0.4933	10	0.66056	D	0.02	.	19.8462	0.96708	0.0:0.0:1.0:0.0	.	618;618;336;336;336;336;653;653	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	M	573;618;618;336;653;618;468;539;336;336;336;336;336	ENSP00000365645:V573M;ENSP00000365639:V618M;ENSP00000392625:V618M;ENSP00000365637:V653M;ENSP00000365635:V618M;ENSP00000404798:V468M;ENSP00000389680:V539M;ENSP00000302343:V336M;ENSP00000379722:V336M;ENSP00000365634:V336M;ENSP00000379723:V336M	ENSP00000302343:V336M	V	+	1	0	KIAA1217	24830436	1.000000	0.71417	0.963000	0.40424	0.961000	0.63080	6.698000	0.74608	2.704000	0.92352	0.655000	0.94253	GTG		0.627	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
ARHGAP21	57584	hgsc.bcm.edu	37	10	24884680	24884680	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:24884680G>A	ENST00000396432.2	-	19	4164	c.3678C>T	c.(3676-3678)ttC>ttT	p.F1226F	ARHGAP21_ENST00000320481.6_Silent_p.F1013F|ARHGAP21_ENST00000493154.1_5'Flank	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1225	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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.F1225F(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						GTTTTCTGAAGAAGGATTTTA	0.368																																					p.F1226F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3678T	10						.						64.0	63.0	64.0					10																	24884680		2203	4300	6503	24924686	SO:0001819	synonymous_variant	57584	exon19			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.3678C>T	10.37:g.24884680G>A		Somatic		Capture	SOLID	Phase_I	24924686	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	8.922	0.961221	0.18583	.	.	ENSG00000107863	ENST00000418033	.	.	.	5.27	4.35	0.52113	.	.	.	.	.	T	0.58004	0.2092	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54214	-0.8327	4	.	.	.	.	8.4103	0.32640	0.2213:0.0:0.7787:0.0	.	.	.	.	F	40	.	.	L	-	1	0	ARHGAP21	24924686	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.419000	0.52728	2.630000	0.89119	0.655000	0.94253	CTT		0.368	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
MYO3A	53904	hgsc.bcm.edu	37	10	26442827	26442827	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:26442827G>A	ENST00000265944.5	+	24	2850	c.2684G>A	c.(2683-2685)aGg>aAg	p.R895K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	895	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R895K(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TATCAAATGAGGACTTCAGAA	0.313																																					p.R895K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2684A	10						.						33.0	35.0	34.0					10																	26442827		2202	4288	6490	26482833	SO:0001583	missense	53904	exon24			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2684G>A	10.37:g.26442827G>A	ENSP00000265944:p.Arg895Lys	Somatic		Capture	SOLID	Phase_I	26482833	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	3.734	-0.054976	0.07362	.	.	ENSG00000095777	ENST00000265944	D	0.86694	-2.16	5.58	-4.6	0.03390	Myosin head, motor domain (2);	0.607232	0.19309	N	0.117459	T	0.73225	0.3560	L	0.31578	0.945	0.51482	D	0.999927	B	0.06786	0.001	B	0.15484	0.013	T	0.58278	-0.7664	10	0.05620	T	0.96	.	12.9378	0.58325	0.5093:0.0:0.4907:0.0	.	895	Q8NEV4	MYO3A_HUMAN	K	895	ENSP00000265944:R895K	ENSP00000265944:R895K	R	+	2	0	MYO3A	26482833	1.000000	0.71417	0.094000	0.20943	0.824000	0.46624	0.928000	0.28831	-1.490000	0.01842	-1.031000	0.02408	AGG		0.313	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MASTL	84930	hgsc.bcm.edu	37	10	27475383	27475383	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:27475383A>G	ENST00000375940.4	+	12	2615	c.2558A>G	c.(2557-2559)cAg>cGg	p.Q853R	MASTL_ENST00000375946.4_Missense_Mutation_p.Q852R|MASTL_ENST00000342386.6_Missense_Mutation_p.Q814R|MASTL_ENST00000477034.1_3'UTR			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	853	AGC-kinase C-terminal.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)	p.Q852R(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCATCCCCCAGCCAGATGAT	0.403																																					p.Q853R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2558G	10						.						158.0	148.0	151.0					10																	27475383		2203	4300	6503	27515389	SO:0001583	missense	84930	exon12			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.2558A>G	10.37:g.27475383A>G	ENSP00000365107:p.Gln853Arg	Somatic		Capture	SOLID	Phase_I	27515389	NM_001172303	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097527	0.76870	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.38560	1.13;1.13;1.13	5.63	5.63	0.86233	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	L	0.55213	1.73	0.80722	D	1	D;P;D	0.89917	1.0;0.929;0.998	D;P;D	0.87578	0.998;0.812;0.994	T	0.59563	-0.7431	10	0.45353	T	0.12	-17.8713	15.8431	0.78864	1.0:0.0:0.0:0.0	.	814;853;852	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	R	852;814;853	ENSP00000365113:Q852R;ENSP00000343446:Q814R;ENSP00000365107:Q853R	ENSP00000343446:Q814R	Q	+	2	0	MASTL	27515389	1.000000	0.71417	0.995000	0.50966	0.440000	0.31957	8.965000	0.93393	2.136000	0.66102	0.533000	0.62120	CAG		0.403	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844	
ARHGAP12	94134	hgsc.bcm.edu	37	10	32097592	32097592	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:32097592A>G	ENST00000344936.2	-	19	2585	c.2351T>C	c.(2350-2352)tTc>tCc	p.F784S	ARHGAP12_ENST00000311380.4_Missense_Mutation_p.F732S|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.F732S|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.F779S|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.F754S	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	784	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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.F784S(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GAGATGTCGGAAAAGAATCTG	0.507																																					p.F784S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2351C	10						.						322.0	273.0	290.0					10																	32097592		2203	4300	6503	32137598	SO:0001583	missense	94134	exon19			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.2351T>C	10.37:g.32097592A>G	ENSP00000345808:p.Phe784Ser	Somatic		Capture	SOLID	Phase_I	32137598	NM_018287	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.628385	0.87560	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	5.36	5.36	0.76844	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	M	0.74647	2.275	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	T	0.51371	-0.8714	10	0.87932	D	0	.	15.6436	0.77029	1.0:0.0:0.0:0.0	.	737;754;779;784;732;83	Q1RLN5;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3;Q9NV28	.;.;.;RHG12_HUMAN;.;.	S	732;754;784;779;732	ENSP00000310984:F732S;ENSP00000364399:F754S;ENSP00000345808:F784S;ENSP00000379448:F779S;ENSP00000364394:F732S	ENSP00000310984:F732S	F	-	2	0	ARHGAP12	32137598	1.000000	0.71417	0.969000	0.41365	0.798000	0.45092	9.287000	0.95975	2.154000	0.67381	0.528000	0.53228	TTC		0.507	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1		
PARD3	56288	hgsc.bcm.edu	37	10	34606210	34606210	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:34606210T>C	ENST00000374789.3	-	20	3224	c.2899A>G	c.(2899-2901)Agt>Ggt	p.S967G	PARD3_ENST00000374788.3_Missense_Mutation_p.S964G|PARD3_ENST00000545260.1_Missense_Mutation_p.S877G|PARD3_ENST00000374794.3_Missense_Mutation_p.S892G|PARD3_ENST00000545693.1_Missense_Mutation_p.S951G|PARD3_ENST00000340077.5_Missense_Mutation_p.S964G|PARD3_ENST00000374790.3_Missense_Mutation_p.S907G|PARD3_ENST00000346874.4_Missense_Mutation_p.S967G|PARD3_ENST00000544292.1_Missense_Mutation_p.S680G|PARD3_ENST00000350537.4_Missense_Mutation_p.S921G|PARD3_ENST00000374773.1_Missense_Mutation_p.S934G|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374776.1_Missense_Mutation_p.S921G	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	967					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.S967G(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)				GGCTGATCACTGGCTGTGGAT	0.408																																					p.S967G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2899G	10						.						114.0	113.0	113.0					10																	34606210		2203	4300	6503	34646216	SO:0001583	missense	56288	exon20			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.2899A>G	10.37:g.34606210T>C	ENSP00000363921:p.Ser967Gly	Somatic		Capture	SOLID	Phase_I	34646216	NM_001184787	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744323	0.49151	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.76	5.76	0.90799	.	0.127354	0.64402	D	0.000001	T	0.45617	0.1351	L	0.39397	1.21	0.46356	D	0.999004	B;D;D;B;D;B;B;B;B;B;B;B;D;B;B	0.60575	0.022;0.986;0.988;0.043;0.988;0.04;0.043;0.046;0.025;0.025;0.013;0.022;0.988;0.022;0.022	B;D;D;B;D;B;B;B;B;B;B;B;D;B;B	0.79108	0.075;0.971;0.992;0.132;0.992;0.075;0.132;0.062;0.062;0.062;0.034;0.075;0.99;0.075;0.075	T	0.16453	-1.0402	10	0.19147	T	0.46	.	16.3634	0.83296	0.0:0.0:0.0:1.0	.	892;877;921;921;951;967;964;967;907;951;934;964;921;933;680	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	G	951;877;967;964;967;892;921;907;921;964;934;680	ENSP00000443147:S951G;ENSP00000440857:S877G;ENSP00000363921:S967G;ENSP00000363920:S964G;ENSP00000340591:S967G;ENSP00000363926:S892G;ENSP00000311986:S921G;ENSP00000363922:S907G;ENSP00000363908:S921G;ENSP00000341844:S964G;ENSP00000363905:S934G;ENSP00000444429:S680G	ENSP00000341844:S964G	S	-	1	0	PARD3	34646216	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	4.426000	0.59882	2.324000	0.78689	0.533000	0.62120	AGT		0.408	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619	
MAPK8	5599	hgsc.bcm.edu	37	10	49617971	49617971	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:49617971T>C	ENST00000374189.1	+	4	483	c.302T>C	c.(301-303)tTt>tCt	p.F101S	MAPK8_ENST00000374182.3_Missense_Mutation_p.F101S|MAPK8_ENST00000374174.1_Missense_Mutation_p.F101S|MAPK8_ENST00000395611.3_Missense_Mutation_p.F101S|MAPK8_ENST00000360332.3_Missense_Mutation_p.F101S			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	101	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|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)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)	p.F101S(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CTAGAAGAATTTCAAGATGTG	0.279																																					p.F101S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T302C	10						.						42.0	46.0	45.0					10																	49617971		2195	4298	6493	49287977	SO:0001583	missense	5599	exon3			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.302T>C	10.37:g.49617971T>C	ENSP00000363304:p.Phe101Ser	Somatic		Capture	SOLID	Phase_I	49287977	NM_002750	B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578219	0.86645	.	.	ENSG00000107643	ENST00000432379;ENST00000429041;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	T;T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (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	0.77850	0.4192	M	0.66560	2.04	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	0.997;1.0;0.995;0.995;1.0	T	0.80374	-0.1409	10	0.87932	D	0	.	15.9088	0.79450	0.0:0.0:0.0:1.0	.	101;101;101;101;101	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	S	101;18;101;101;101;101;101;101;101;101	ENSP00000387936:F101S;ENSP00000393223:F18S;ENSP00000363304:F101S;ENSP00000397729:F101S;ENSP00000363297:F101S;ENSP00000363294:F101S;ENSP00000353483:F101S;ENSP00000363291:F101S;ENSP00000363289:F101S;ENSP00000378974:F101S	ENSP00000353483:F101S	F	+	2	0	MAPK8	49287977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.996000	0.88334	2.221000	0.72209	0.528000	0.53228	TTT		0.279	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1		
CHAT	1103	hgsc.bcm.edu	37	10	50872938	50872938	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:50872938G>A	ENST00000337653.2	+	15	2246	c.2093G>A	c.(2092-2094)aGc>aAc	p.S698N	CHAT_ENST00000395559.2_Missense_Mutation_p.S580N|CHAT_ENST00000339797.1_Missense_Mutation_p.S580N|CHAT_ENST00000395562.2_Missense_Mutation_p.S616N|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000351556.3_Missense_Mutation_p.S580N	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	698					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.S698N(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	AGCTTTCACAGCTGCAAAGAG	0.507																																					p.S580N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1739A	10						.						196.0	181.0	186.0					10																	50872938		2203	4300	6503	50542944	SO:0001583	missense	1103	exon15			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.2093G>A	10.37:g.50872938G>A	ENSP00000337103:p.Ser698Asn	Somatic		Capture	SOLID	Phase_I	50542944	NM_001142929	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813087	0.32053	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	5.76	2.57	0.30868	.	0.777488	0.12626	N	0.452623	D	0.87849	0.6281	L	0.55103	1.725	0.22253	N	0.999257	B	0.06786	0.001	B	0.08055	0.003	T	0.78633	-0.2128	10	0.51188	T	0.08	-7.4927	5.2611	0.15573	0.5465:0.0:0.4535:0.0	.	698	P28329	CLAT_HUMAN	N	580;580;580;698;616	ENSP00000343486:S580N;ENSP00000345878:S580N;ENSP00000378926:S580N;ENSP00000337103:S698N;ENSP00000378929:S616N	ENSP00000337103:S698N	S	+	2	0	CHAT	50542944	0.995000	0.38212	0.759000	0.31340	0.995000	0.86356	2.424000	0.44714	0.810000	0.34279	0.655000	0.94253	AGC		0.507	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	
PRKG1	5592	hgsc.bcm.edu	37	10	53822299	53822299	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:53822299A>G	ENST00000401604.2	+	7	992	c.798A>G	c.(796-798)gtA>gtG	p.V266V	PRKG1_ENST00000373980.4_Silent_p.V281V|PRKG1_ENST00000373975.2_5'UTR|PRKG1_ENST00000373985.1_Silent_p.V254V			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	266	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.V281V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CTTTGCAGGTAAATGTCACTC	0.403																																					p.V281V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A843G	10						.						64.0	62.0	63.0					10																	53822299		2203	4300	6503	53492305	SO:0001819	synonymous_variant	5592	exon7				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.798A>G	10.37:g.53822299A>G		Somatic		Capture	SOLID	Phase_I	53492305	NM_006258	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP	ENST00000401604.2	37	CCDS44399.1																																																																																				0.403	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
ANK3	288	hgsc.bcm.edu	37	10	61834731	61834731	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:61834731T>C	ENST00000280772.2	-	37	6099	c.5908A>G	c.(5908-5910)Aat>Gat	p.N1970D	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1970					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.N1970D(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						GATCCTTTATTATCTACACAT	0.373																																					p.N1970D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5908G	10						.						68.0	67.0	67.0					10																	61834731		2203	4300	6503	61504737	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.5908A>G	10.37:g.61834731T>C	ENSP00000280772:p.Asn1970Asp	Somatic		Capture	SOLID	Phase_I	61504737	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	1.085	-0.665862	0.03428	.	.	ENSG00000151150	ENST00000280772	T	0.61980	0.06	5.93	4.77	0.60923	.	0.328689	0.21616	N	0.071714	T	0.36331	0.0963	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23226	-1.0194	10	0.02654	T	1	.	11.4607	0.50208	0.0:0.0708:0.0:0.9292	.	1970	Q12955	ANK3_HUMAN	D	1970	ENSP00000280772:N1970D	ENSP00000280772:N1970D	N	-	1	0	ANK3	61504737	0.267000	0.24122	0.952000	0.39060	0.996000	0.88848	2.039000	0.41193	1.036000	0.39998	0.533000	0.62120	AAT		0.373	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
EGR2	1959	hgsc.bcm.edu	37	10	64574107	64574107	+	Silent	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:64574107G>T	ENST00000242480.3	-	2	616	c.291C>A	c.(289-291)tcC>tcA	p.S97S	EGR2_ENST00000411732.1_Silent_p.S47S|EGR2_ENST00000439032.1_Silent_p.S97S|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	97					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.S97S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAGGGTCAATGGAGAACTTGC	0.522																																					p.S97S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C291A	10						.						166.0	148.0	154.0					10																	64574107		2203	4300	6503	64244113	SO:0001819	synonymous_variant	1959	exon2			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.291C>A	10.37:g.64574107G>T		Somatic		Capture	SOLID	Phase_I	64244113	NM_000399	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	CCDS7267.1																																																																																				0.522	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399	
LRRTM3	347731	hgsc.bcm.edu	37	10	68687197	68687197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:68687197C>T	ENST00000361320.4	+	2	1101	c.523C>T	c.(523-525)Cga>Tga	p.R175*	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	175					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R175*(4)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CATCCCTGTGCGAATATTCCA	0.483																																					p.R175X												.	.	4	Substitution - Nonsense(4)	large_intestine(2)|endometrium(2)	c.C523T	10						.						77.0	83.0	81.0					10																	68687197		2203	4300	6503	68357203	SO:0001587	stop_gained	347731	exon2			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.523C>T	10.37:g.68687197C>T	ENSP00000355187:p.Arg175*	Somatic		Capture	SOLID	Phase_I	68357203	NM_178011	A8K2A3|Q2NKX7|Q6N0A3	Nonsense_Mutation	SNP	ENST00000361320.4	37	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	40	8.405933	0.98796	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	.	.	.	5.42	0.605	0.17553	.	0.000000	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	15.4298	0.75084	0.5543:0.4456:0.0:0.0	.	.	.	.	X	175	.	ENSP00000355187:R175X	R	+	1	2	LRRTM3	68357203	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.541000	0.36126	0.197000	0.20387	-0.271000	0.10264	CGA		0.483	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011	
TET1	80312	hgsc.bcm.edu	37	10	70426920	70426920	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:70426920T>C	ENST00000373644.4	+	7	4789	c.4580T>C	c.(4579-4581)cTt>cCt	p.L1527P		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1527					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.L1527P(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGCATCCCTCTTCCAATGGCC	0.493																																					p.L1527P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4580C	10						.						110.0	89.0	96.0					10																	70426920		2203	4300	6503	70096926	SO:0001583	missense	80312	exon7			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.4580T>C	10.37:g.70426920T>C	ENSP00000362748:p.Leu1527Pro	Somatic		Capture	SOLID	Phase_I	70096926	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.097551	0.37048	.	.	ENSG00000138336	ENST00000373644	T	0.44881	0.91	5.21	1.0	0.19881	TET cysteine-rich domain (1);	0.675779	0.14388	N	0.322728	T	0.23766	0.0575	N	0.25890	0.77	0.26286	N	0.978209	B	0.25955	0.138	B	0.25140	0.058	T	0.15263	-1.0443	10	0.44086	T	0.13	.	1.8503	0.03168	0.1955:0.0992:0.1339:0.5715	.	1527	Q8NFU7	TET1_HUMAN	P	1527	ENSP00000362748:L1527P	ENSP00000362748:L1527P	L	+	2	0	TET1	70096926	0.589000	0.26807	0.011000	0.14972	0.497000	0.33675	0.975000	0.29449	0.411000	0.25702	0.477000	0.44152	CTT		0.493	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
PALD1	27143	hgsc.bcm.edu	37	10	72285714	72285714	+	Missense_Mutation	SNP	A	A	G	rs369687767		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:72285714A>G	ENST00000263563.6	+	2	275	c.7A>G	c.(7-9)Aca>Gca	p.T3A		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	3						cytosol (GO:0005829)		p.T3A(1)									GACTATGGGTACAACGGCCAG	0.612																																					p.T3A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7G	10						.	A	ALA/THR	0,4404		0,0,2202	52.0	50.0	51.0		7	5.2	1.0	10		51	1,8595		0,1,4297	no	missense	KIAA1274	NM_014431.2	58	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	3/857	72285714	1,12999	2202	4298	6500	71955720	SO:0001583	missense	27143	exon2			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.7A>G	10.37:g.72285714A>G	ENSP00000263563:p.Thr3Ala	Somatic		Capture	SOLID	Phase_I	71955720	NM_014431	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.662216	0.88251	0.0	1.16E-4	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.29397	1.57	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64626	-0.6363	10	0.87932	D	0	-9.0824	15.0632	0.71970	1.0:0.0:0.0:0.0	.	3	Q9ULE6	PALD_HUMAN	A	3	ENSP00000263563:T3A	ENSP00000263563:T3A	T	+	1	0	KIAA1274	71955720	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.186000	0.94906	2.107000	0.64212	0.533000	0.62120	ACA		0.612	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431	
ADAMTS14	140766	hgsc.bcm.edu	37	10	72492012	72492012	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:72492012T>C	ENST00000373207.1	+	7	1105	c.1105T>C	c.(1105-1107)Tat>Cat	p.Y369H	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.Y372H	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	369	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y372H(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TTCGGCAGGGTATGCACCCGT	0.602																																					p.Y369H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1105C	10						.						91.0	71.0	78.0					10																	72492012		2203	4300	6503	72162018	SO:0001583	missense	140766	exon7			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1105T>C	10.37:g.72492012T>C	ENSP00000362303:p.Tyr369His	Somatic		Capture	SOLID	Phase_I	72162018	NM_080722	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356430	0.82243	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	D;D	0.85955	-2.05;-2.05	4.68	4.68	0.58851	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000001	D	0.92506	0.7620	M	0.84846	2.72	0.48762	D	0.999704	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	D	0.93715	0.7027	10	0.87932	D	0	.	14.2739	0.66167	0.0:0.0:0.0:1.0	.	369;372	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	H	372;369	ENSP00000362304:Y372H;ENSP00000362303:Y369H	ENSP00000362303:Y369H	Y	+	1	0	ADAMTS14	72162018	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.868000	0.87116	2.107000	0.64212	0.533000	0.62120	TAT		0.602	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
NDST2	8509	hgsc.bcm.edu	37	10	75567161	75567161	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:75567161A>G	ENST00000309979.6	-	3	1542	c.986T>C	c.(985-987)aTg>aCg	p.M329T	NDST2_ENST00000299641.4_Missense_Mutation_p.M206T|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.M329T			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	329	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.M329T(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGCCACCTTCATGCGGGTCCC	0.488																																					p.M329T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T986C	10						.						85.0	82.0	83.0					10																	75567161		2203	4300	6503	75237167	SO:0001583	missense	8509	exon3			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.986T>C	10.37:g.75567161A>G	ENSP00000310657:p.Met329Thr	Somatic		Capture	SOLID	Phase_I	75237167	NM_003635	Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.218987	0.58560	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.51817	0.96;0.69	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.73225	0.3560	M	0.86651	2.83	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.81914	0.995;0.995	T	0.78713	-0.2097	10	0.87932	D	0	.	16.0356	0.80625	1.0:0.0:0.0:0.0	.	206;329	B4E139;P52849	.;NDST2_HUMAN	T	329;206	ENSP00000310657:M329T;ENSP00000299641:M206T	ENSP00000299641:M206T	M	-	2	0	NDST2	75237167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.329000	0.96413	2.193000	0.70182	0.529000	0.55759	ATG		0.488	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635	
CAMK2G	818	hgsc.bcm.edu	37	10	75585076	75585076	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:75585076T>C	ENST00000444854.2	-	7	541	c.421A>G	c.(421-423)Aag>Gag	p.K141E	CAMK2G_ENST00000322680.3_Silent_p.V340V|CAMK2G_ENST00000372765.1_Intron|CAMK2G_ENST00000394762.2_Intron|CAMK2G_ENST00000322635.3_Intron|CAMK2G_ENST00000351293.3_Intron|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Silent_p.V351V|CAMK2G_ENST00000423381.1_Silent_p.V372V			Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.V340V(1)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	GGGCTGGGCTTACGAGACTGT	0.572																																					p.V340V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1020G	10						.						165.0	136.0	146.0					10																	75585076		2203	4300	6503	75255082	SO:0001583	missense	818	exon14			U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000444854.2:c.421A>G	10.37:g.75585076T>C	ENSP00000399680:p.Lys141Glu	Somatic		Capture	SOLID	Phase_I	75255082	NM_172171	O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Silent	SNP	ENST00000444854.2	37		.	.	.	.	.	.	.	.	.	.	T	15.84	2.951642	0.53186	.	.	ENSG00000148660	ENST00000441192;ENST00000444854	T	0.70749	-0.51	5.99	5.99	0.97316	.	.	.	.	.	T	0.72447	0.3461	.	.	.	0.29379	N	0.863437	.	.	.	.	.	.	T	0.69558	-0.5113	5	.	.	.	.	14.7241	0.69329	0.0:0.0:0.0:1.0	.	.	.	.	E	119;141	ENSP00000399680:K141E	.	K	-	1	0	CAMK2G	75255082	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.105000	0.64591	2.291000	0.77112	0.533000	0.62120	AAG		0.572	CAMK2G-204	KNOWN	basic	protein_coding	protein_coding		NM_172169	
DLG5	9231	hgsc.bcm.edu	37	10	79595578	79595578	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:79595578G>T	ENST00000372391.2	-	8	1545	c.1540C>A	c.(1540-1542)Cag>Aag	p.Q514K	DLG5_ENST00000372388.2_Missense_Mutation_p.Q514K	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	514					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.Q514K(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCCGCCTCCTGGAGGGCTTCC	0.582																																					p.Q514K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1540A	10						.						89.0	76.0	80.0					10																	79595578		2203	4300	6503	79265584	SO:0001583	missense	9231	exon8			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1540C>A	10.37:g.79595578G>T	ENSP00000361467:p.Gln514Lys	Somatic		Capture	SOLID	Phase_I	79265584	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241144	0.79912	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.05081	3.5;3.55	5.7	5.7	0.88788	.	0.000000	0.36815	N	0.002387	T	0.26376	0.0644	M	0.68317	2.08	0.47037	D	0.999291	D;D;D	0.76494	0.999;0.997;0.982	D;D;D	0.83275	0.996;0.977;0.968	T	0.00105	-1.2057	10	0.66056	D	0.02	.	19.8471	0.96713	0.0:0.0:1.0:0.0	.	404;514;514	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	K	514	ENSP00000361467:Q514K;ENSP00000361464:Q514K	ENSP00000361464:Q514K	Q	-	1	0	DLG5	79265584	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.476000	0.97823	2.688000	0.91661	0.655000	0.94253	CAG		0.582	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		
SFTPD	6441	hgsc.bcm.edu	37	10	81700493	81700493	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:81700493T>C	ENST00000372292.3	-	7	759	c.719A>G	c.(718-720)cAc>cGc	p.H240R		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	240				H -> P (in Ref. 7; AA sequence). {ECO:0000305}.	defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)	p.H240R(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			AGCCTGGAGGTGCTGTACTTG	0.522																																					p.H240R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A719G	10						.						93.0	89.0	90.0					10																	81700493		2203	4300	6503	81690473	SO:0001583	missense	6441	exon7			L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.719A>G	10.37:g.81700493T>C	ENSP00000361366:p.His240Arg	Somatic		Capture	SOLID	Phase_I	81690473	NM_003019	Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447293	0.25987	.	.	ENSG00000133661	ENST00000372292	D	0.93811	-3.29	5.93	-7.62	0.01294	Lung surfactant protein D-like multimerisation domain (1);Lung surfactant protein D coiled-coil trimerisation (1);	2.172200	0.01766	N	0.030895	T	0.76926	0.4056	N	0.01817	-0.705	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74109	-0.3771	10	0.11485	T	0.65	5.103	5.1365	0.14937	0.1801:0.5478:0.0986:0.1735	.	240	P35247	SFTPD_HUMAN	R	240	ENSP00000361366:H240R	ENSP00000361366:H240R	H	-	2	0	SFTPD	81690473	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.024000	0.03603	-0.861000	0.04094	0.533000	0.62120	CAC		0.522	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1		
SFTPD	6441	hgsc.bcm.edu	37	10	81702569	81702569	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:81702569T>C	ENST00000372292.3	-	3	306	c.266A>G	c.(265-267)gAc>gGc	p.D89G		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	89	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)	p.D89G(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			AGAGCCATTGTCCCCTTTGGG	0.582																																					p.D89G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A266G	10						.						154.0	119.0	131.0					10																	81702569		2203	4300	6503	81692549	SO:0001583	missense	6441	exon3			L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.266A>G	10.37:g.81702569T>C	ENSP00000361366:p.Asp89Gly	Somatic		Capture	SOLID	Phase_I	81692549	NM_003019	Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354705	0.82243	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	D;D	0.96200	-3.94;-3.94	5.82	4.69	0.59074	.	0.598474	0.16692	N	0.203496	D	0.93667	0.7977	L	0.55990	1.75	0.29309	N	0.868141	P	0.42078	0.77	B	0.42995	0.404	D	0.89399	0.3694	10	0.48119	T	0.1	-10.5752	10.1059	0.42533	0.0:0.0795:0.0:0.9205	.	89	P35247	SFTPD_HUMAN	G	89;102	ENSP00000361366:D89G;ENSP00000394325:D102G	ENSP00000361366:D89G	D	-	2	0	SFTPD	81692549	0.991000	0.36638	0.982000	0.44146	0.969000	0.65631	3.529000	0.53532	1.018000	0.39521	0.533000	0.62120	GAC		0.582	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1		
KIF20B	9585	hgsc.bcm.edu	37	10	91497688	91497688	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:91497688T>C	ENST00000371728.3	+	20	3155	c.3090T>C	c.(3088-3090)ggT>ggC	p.G1030G	KIF20B_ENST00000416354.1_Silent_p.G1060G|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.G990G|KIF20B_ENST00000394289.2_Silent_p.G1030G	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1030					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.G990G(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACCTTTTAGGTAATGATTATT	0.343																																					p.G990G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2970C	10						.						74.0	84.0	80.0					10																	91497688		2203	4294	6497	91487668	SO:0001819	synonymous_variant	9585	exon20			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3090T>C	10.37:g.91497688T>C		Somatic		Capture	SOLID	Phase_I	91487668	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37																																																																																					0.343	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
ANKRD1	27063	hgsc.bcm.edu	37	10	92675313	92675313	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:92675313T>C	ENST00000371697.3	-	8	1084	c.836A>G	c.(835-837)aAc>aGc	p.N279S		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	279					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)	p.N279S(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				GTTCTTGATGTTGAGATCCGC	0.458																																					p.N279S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A836G	10						.						110.0	98.0	102.0					10																	92675313		2203	4300	6503	92665293	SO:0001583	missense	27063	exon8			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.836A>G	10.37:g.92675313T>C	ENSP00000360762:p.Asn279Ser	Somatic		Capture	SOLID	Phase_I	92665293	NM_014391	Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	T	7.850	0.723874	0.15439	.	.	ENSG00000148677	ENST00000371697	T	0.57752	0.38	5.41	0.133	0.14766	Ankyrin repeat-containing domain (4);	0.687692	0.14307	N	0.327903	T	0.40040	0.1101	L	0.45051	1.395	0.21984	N	0.999431	B	0.06786	0.001	B	0.12837	0.008	T	0.35001	-0.9806	10	0.62326	D	0.03	.	6.1829	0.20482	0.0:0.2047:0.3448:0.4505	.	279	Q15327	ANKR1_HUMAN	S	279	ENSP00000360762:N279S	ENSP00000360762:N279S	N	-	2	0	ANKRD1	92665293	0.167000	0.22975	0.207000	0.23584	0.647000	0.38526	0.500000	0.22562	0.050000	0.15949	0.533000	0.62120	AAC		0.458	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391	
TNKS2	80351	hgsc.bcm.edu	37	10	93619258	93619258	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:93619258A>G	ENST00000371627.4	+	25	3513	c.3134A>G	c.(3133-3135)gAt>gGt	p.D1045G		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1045	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.D1045G(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)				AAAGGCTTTGATGAAAGGCAT	0.333																																					p.D1045G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3134G	10						.						122.0	121.0	121.0					10																	93619258		2203	4300	6503	93609238	SO:0001583	missense	80351	exon25			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.3134A>G	10.37:g.93619258A>G	ENSP00000360689:p.Asp1045Gly	Somatic		Capture	SOLID	Phase_I	93609238	NM_025235	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.701773	0.88924	.	.	ENSG00000107854	ENST00000371627	T	0.14766	2.48	5.75	5.75	0.90469	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.64402	D	0.000006	T	0.51398	0.1672	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67078	-0.5761	10	0.87932	D	0	.	16.0432	0.80698	1.0:0.0:0.0:0.0	.	1045	Q9H2K2	TNKS2_HUMAN	G	1045	ENSP00000360689:D1045G	ENSP00000360689:D1045G	D	+	2	0	TNKS2	93609238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.331000	0.96430	2.196000	0.70406	0.472000	0.43445	GAT		0.333	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
CPEB3	22849	hgsc.bcm.edu	37	10	93812149	93812149	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:93812149G>T	ENST00000265997.4	-	10	2089	c.1917C>A	c.(1915-1917)tgC>tgA	p.C639*	CPEB3_ENST00000412050.4_Nonsense_Mutation_p.C625*	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	639					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)	p.C639*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GTGTGCCCTGGCACTCATCAC	0.483																																					p.C639X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1917A	10						.						139.0	123.0	128.0					10																	93812149		2203	4300	6503	93802129	SO:0001587	stop_gained	22849	exon10			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1917C>A	10.37:g.93812149G>T	ENSP00000265997:p.Cys639*	Somatic		Capture	SOLID	Phase_I	93802129	NM_014912	Q5T389|Q9NQJ7|Q9Y2E9	Nonsense_Mutation	SNP	ENST00000265997.4	37	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	G	34	5.362281	0.95877	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	.	.	.	5.81	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5699	14.0135	0.64511	0.0736:0.0:0.9264:0.0	.	.	.	.	X	625;625;639	.	ENSP00000265997:C639X	C	-	3	2	CPEB3	93802129	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.578000	0.60929	1.429000	0.47314	0.655000	0.94253	TGC		0.483	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912	
CYP2C9	1559	hgsc.bcm.edu	37	10	96698480	96698480	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:96698480T>C	ENST00000260682.6	+	1	53	c.41T>C	c.(40-42)tTg>tCg	p.L14S	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	14				L -> M (in Ref. 11; AAB23864). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.L14S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTCTCATGTTTGCTTCTCCTT	0.468																																					p.L14S	Ovarian(54;1266 1406 16072 35076)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T41C	10						.						272.0	256.0	261.0					10																	96698480		2203	4300	6503	96688470	SO:0001583	missense	1559	exon1			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.41T>C	10.37:g.96698480T>C	ENSP00000260682:p.Leu14Ser	Somatic		Capture	SOLID	Phase_I	96688470	NM_000771	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	13.82	2.350210	0.41599	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.72835	-0.69	3.69	2.48	0.30137	.	1.163550	0.06498	U	0.735905	T	0.76083	0.3938	M	0.69823	2.125	0.09310	N	0.999997	D;D;P	0.58620	0.983;0.983;0.952	P;P;P	0.50314	0.637;0.637;0.5	T	0.60475	-0.7256	10	0.87932	D	0	.	8.1319	0.31033	0.0:0.0:0.2049:0.7951	.	14;14;14	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	S	14	ENSP00000260682:L14S	ENSP00000260682:L14S	L	+	2	0	CYP2C9	96688470	0.095000	0.21747	0.007000	0.13788	0.573000	0.36030	1.688000	0.37690	0.525000	0.28522	0.397000	0.26171	TTG		0.468	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771	
MKI67	4288	hgsc.bcm.edu	37	10	129905213	129905213	+	Nonsense_Mutation	SNP	G	G	A	rs201295589		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:129905213G>A	ENST00000368654.3	-	13	5266	c.4891C>T	c.(4891-4893)Cga>Tga	p.R1631*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.R1271*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1631	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R1631*(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGAGCCGTCGCTTGGAGCTT	0.502																																					p.R1271X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3811T	10						.						218.0	218.0	218.0					10																	129905213		2203	4300	6503	129795203	SO:0001587	stop_gained	4288	exon12			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4891C>T	10.37:g.129905213G>A	ENSP00000357643:p.Arg1631*	Somatic		Capture	SOLID	Phase_I	129795203	NM_001145966	Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	44	10.893918	0.99484	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	2.75	0.31	0.15825	.	0.461817	0.16195	N	0.225197	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	6.3224	0.21225	0.0:0.1026:0.4831:0.4144	.	.	.	.	X	1631;1271;1630	.	ENSP00000357642:R1271X	R	-	1	2	MKI67	129795203	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.838000	0.04372	-0.220000	0.09988	-2.582000	0.00168	CGA		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
FBXL17	64839	hgsc.bcm.edu	37	5	107197437	107197437	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:107197437G>C	ENST00000542267.1	-	9	2496	c.2090C>G	c.(2089-2091)tCt>tGt	p.S697C	FBXL17_ENST00000359660.5_Missense_Mutation_p.S299C	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	697								p.S299C(1)		endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GGAGGCGGCAGACATGTTGGG	0.587																																					p.S697C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2090G	5						.						110.0	83.0	92.0					5																	107197437		2202	4300	6502	107225336	SO:0001583	missense	64839	exon9			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.2090C>G	5.37:g.107197437G>C	ENSP00000437464:p.Ser697Cys	Somatic		Capture	SOLID	Phase_I	107225336	NM_001163315	A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313203	0.81358	.	.	ENSG00000145743	ENST00000359660;ENST00000542267	T;T	0.15139	2.65;2.45	5.59	4.73	0.59995	.	9.287700	0.00166	N	0.000000	T	0.34424	0.0897	L	0.36672	1.1	0.45129	D	0.998144	D	0.71674	0.998	P	0.57371	0.819	T	0.00333	-1.1810	10	0.87932	D	0	.	14.2192	0.65815	0.0716:0.0:0.9284:0.0	.	697	Q9UF56	FXL17_HUMAN	C	299;697	ENSP00000352683:S299C;ENSP00000437464:S697C	ENSP00000352683:S299C	S	-	2	0	FBXL17	107225336	1.000000	0.71417	0.966000	0.40874	0.893000	0.52053	9.095000	0.94175	1.372000	0.46190	0.585000	0.79938	TCT		0.587	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
MAN2A1	4124	hgsc.bcm.edu	37	5	109152979	109152979	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:109152979T>A	ENST00000261483.4	+	13	3001	c.1949T>A	c.(1948-1950)cTt>cAt	p.L650H		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	650					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	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)	p.L650H(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGCAGGTACCTTGTGGTCTAT	0.368																																					p.L650H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1949A	5						.						134.0	125.0	128.0					5																	109152979		2202	4300	6502	109180878	SO:0001583	missense	4124	exon13				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1949T>A	5.37:g.109152979T>A	ENSP00000261483:p.Leu650His	Somatic		Capture	SOLID	Phase_I	109180878	NM_002372	Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.545784	0.86022	.	.	ENSG00000112893	ENST00000261483	D	0.85339	-1.97	5.42	5.42	0.78866	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.64402	D	0.000001	D	0.92567	0.7639	M	0.83603	2.65	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.93643	0.6966	10	0.87932	D	0	-23.1734	15.4144	0.74952	0.0:0.0:0.0:1.0	.	650	Q16706	MA2A1_HUMAN	H	650	ENSP00000261483:L650H	ENSP00000261483:L650H	L	+	2	0	MAN2A1	109180878	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.990000	0.70595	2.176000	0.68965	0.528000	0.53228	CTT		0.368	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1		
APC	324	hgsc.bcm.edu	37	5	112164616	112164616	+	Nonsense_Mutation	SNP	C	C	T	rs137854574		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:112164616C>T	ENST00000457016.1	+	14	2070	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	APC_ENST00000508376.2_Nonsense_Mutation_p.R564*|CTC-554D6.1_ENST00000520401.1_Silent_p.C59C|APC_ENST00000257430.4_Nonsense_Mutation_p.R564*			P25054	APC_HUMAN	adenomatous polyposis coli	564	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.R564*(14)|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)		AAAGACGTTGCGAGAAGTTGG	0.313		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.R546X	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,NS,Substitution - Nonsense,0	.	15	Substitution - Nonsense(14)|Unknown(1)	large_intestine(14)|skin(1)	c.C1636T	5	GRCh37	CM920035	APC	M	rs137854574	.						126.0	137.0	134.0					5																	112164616		2202	4300	6502	112192515	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.1690C>T	5.37:g.112164616C>T	ENSP00000413133:p.Arg564*	Somatic		Capture	SOLID	Phase_I	112192515	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	7.921767	0.98563	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.62	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3959	14.5777	0.68262	0.2726:0.7274:0.0:0.0	.	.	.	.	X	564;546;564;564;564	.	ENSP00000257430:R564X	R	+	1	2	APC	112192515	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.526000	0.45607	1.313000	0.45069	0.655000	0.94253	CGA		0.313	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112178834	112178834	+	Missense_Mutation	SNP	A	A	G	rs554356011	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:112178834A>G	ENST00000457016.1	+	16	7923	c.7543A>G	c.(7543-7545)Ata>Gta	p.I2515V	APC_ENST00000508376.2_Missense_Mutation_p.I2515V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.I2515V			P25054	APC_HUMAN	adenomatous polyposis coli	2515	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.I2515V(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)		CAGTCCCACTATAGAGTATAA	0.453		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)			A|||	6	0.00119808	0.0	0.0	5008	,	,		20324	0.0		0.0	False		,,,				2504	0.0061				p.I2497V	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"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	c.A7489G	5						.						96.0	84.0	88.0					5																	112178834		2202	4299	6501	112206733	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.7543A>G	5.37:g.112178834A>G	ENSP00000413133:p.Ile2515Val	Somatic		Capture	SOLID	Phase_I	112206733	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	3.302	-0.142620	0.06669	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.83075	-1.68;-1.68;-1.68	5.95	-5.19	0.02832	Adenomatous polyposis coli protein basic domain (1);	0.616352	0.17551	N	0.170174	T	0.48114	0.1482	N	0.00926	-1.1	0.20307	N	0.999913	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.53961	-0.8364	9	.	.	.	-4.2201	8.4097	0.32636	0.2469:0.0956:0.5635:0.094	.	2517;2515	Q4LE70;P25054	.;APC_HUMAN	V	2515	ENSP00000413133:I2515V;ENSP00000257430:I2515V;ENSP00000427089:I2515V	.	I	+	1	0	APC	112206733	0.059000	0.20769	0.422000	0.26621	0.845000	0.48019	-0.382000	0.07408	-0.775000	0.04584	-0.912000	0.02778	ATA		0.453	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
DTWD2	285605	hgsc.bcm.edu	37	5	118176673	118176673	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:118176673A>G	ENST00000510708.1	-	6	869	c.836T>C	c.(835-837)aTg>aCg	p.M279T	DTWD2_ENST00000304058.4_Missense_Mutation_p.M213T|DTWD2_ENST00000515439.3_Missense_Mutation_p.M183T	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	279								p.M279T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		GTTCTTTGGCATTGGTTTAGG	0.383																																					p.M279T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T836C	5						.						152.0	134.0	140.0					5																	118176673		2202	4300	6502	118204572	SO:0001583	missense	285605	exon6				CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.836T>C	5.37:g.118176673A>G	ENSP00000425048:p.Met279Thr	Somatic		Capture	SOLID	Phase_I	118204572	NM_173666		Missense_Mutation	SNP	ENST00000510708.1	37	CCDS34216.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.133256	0.56828	.	.	ENSG00000169570	ENST00000304058;ENST00000510708;ENST00000515439	.	.	.	5.53	5.53	0.82687	.	0.040458	0.85682	D	0.000000	T	0.41236	0.1150	L	0.44542	1.39	0.58432	D	0.999994	P	0.42827	0.791	B	0.35859	0.212	T	0.32402	-0.9908	9	0.11485	T	0.65	-30.0306	15.3319	0.74219	1.0:0.0:0.0:0.0	.	279	Q8NBA8	DTWD2_HUMAN	T	213;279;183	.	ENSP00000302892:M213T	M	-	2	0	DTWD2	118204572	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.701000	0.91331	2.099000	0.63709	0.528000	0.53228	ATG		0.383	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666	
SLC12A2	6558	hgsc.bcm.edu	37	5	127450304	127450304	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:127450304G>A	ENST00000262461.2	+	4	1168	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A327T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	327					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.A327T(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AATAATGATGGCCACTGTTGT	0.363																																					p.A327T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G979A	5						.						138.0	131.0	133.0					5																	127450304		2203	4300	6503	127478203	SO:0001583	missense	6558	exon4				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.979G>A	5.37:g.127450304G>A	ENSP00000262461:p.Ala327Thr	Somatic		Capture	SOLID	Phase_I	127478203	NM_001046	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187364	0.78789	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98835	-5.17;-5.17	5.36	5.36	0.76844	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98754	0.9581	L	0.58969	1.84	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.974;0.992	D	0.98669	1.0687	10	0.32370	T	0.25	.	18.0132	0.89230	0.0:0.0:1.0:0.0	.	327;327	P55011-3;P55011	.;S12A2_HUMAN	T	327	ENSP00000262461:A327T;ENSP00000340878:A327T	ENSP00000262461:A327T	A	+	1	0	SLC12A2	127478203	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.643000	0.74334	2.779000	0.95612	0.650000	0.86243	GCC		0.363	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
SLC12A2	6558	hgsc.bcm.edu	37	5	127512812	127512812	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:127512812G>A	ENST00000262461.2	+	21	3134	c.2945G>A	c.(2944-2946)gGc>gAc	p.G982D	SLC12A2_ENST00000343225.4_Intron	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	982					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.G982D(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GAAGAGGATGGCAAGACTGCA	0.279																																					p.G982D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2945A	5						.						67.0	73.0	71.0					5																	127512812		2203	4297	6500	127540711	SO:0001583	missense	6558	exon21				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2945G>A	5.37:g.127512812G>A	ENSP00000262461:p.Gly982Asp	Somatic		Capture	SOLID	Phase_I	127540711	NM_001046	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064274	0.36373	.	.	ENSG00000064651	ENST00000262461	D	0.84800	-1.9	5.11	4.24	0.50183	.	0.368465	0.26955	N	0.021642	T	0.73513	0.3596	N	0.22421	0.69	0.80722	D	1	B	0.13145	0.007	B	0.11329	0.006	T	0.66650	-0.5870	10	0.25106	T	0.35	.	9.698	0.40169	0.0736:0.0:0.7859:0.1405	.	982	P55011	S12A2_HUMAN	D	982	ENSP00000262461:G982D	ENSP00000262461:G982D	G	+	2	0	SLC12A2	127540711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.831000	0.75324	1.512000	0.48834	0.591000	0.81541	GGC		0.279	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
FBN2	2201	hgsc.bcm.edu	37	5	127681270	127681270	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:127681270C>T	ENST00000508053.1	-	30	3970	c.2996G>A	c.(2995-2997)cGc>cAc	p.R999H	FBN2_ENST00000508989.1_Missense_Mutation_p.R966H|FBN2_ENST00000262464.4_Missense_Mutation_p.R999H			P35556	FBN2_HUMAN	fibrillin 2	999					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R999H(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGCTCCATGCGAATATCTAC	0.512																																					p.R999H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2996A	5						.						75.0	70.0	72.0					5																	127681270		2203	4300	6503	127709169	SO:0001583	missense	2201	exon24			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2996G>A	5.37:g.127681270C>T	ENSP00000424571:p.Arg999His	Somatic		Capture	SOLID	Phase_I	127709169	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782658	0.90282	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.91351	-2.83;-2.83;-2.83	4.08	4.08	0.47627	Matrix fibril-associated (2);	0.000000	0.64402	D	0.000006	D	0.95446	0.8521	M	0.82823	2.61	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.987	D	0.95772	0.8809	10	0.62326	D	0.03	.	17.5943	0.88006	0.0:1.0:0.0:0.0	.	966;999	D6RJI3;P35556	.;FBN2_HUMAN	H	999;999;966	ENSP00000262464:R999H;ENSP00000424571:R999H;ENSP00000425596:R966H	ENSP00000262464:R999H	R	-	2	0	FBN2	127709169	1.000000	0.71417	0.996000	0.52242	0.835000	0.47333	7.609000	0.82925	2.567000	0.86603	0.563000	0.77884	CGC		0.512	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
CHSY3	337876	hgsc.bcm.edu	37	5	129520327	129520327	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:129520327A>G	ENST00000305031.4	+	3	1850	c.1492A>G	c.(1492-1494)Acc>Gcc	p.T498A		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	498					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)	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.T498A(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ACTGGATGATACCGTCCTACA	0.493																																					p.T498A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1492G	5						.						60.0	58.0	59.0					5																	129520327		2203	4300	6503	129548226	SO:0001583	missense	337876	exon3			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1492A>G	5.37:g.129520327A>G	ENSP00000302629:p.Thr498Ala	Somatic		Capture	SOLID	Phase_I	129548226	NM_175856	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	8.779	0.927739	0.18056	.	.	ENSG00000198108	ENST00000305031	T	0.14640	2.49	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000010	T	0.09686	0.0238	N	0.17800	0.525	0.58432	D	0.999996	B	0.18013	0.025	B	0.20577	0.03	T	0.19679	-1.0298	9	.	.	.	-5.3811	14.6584	0.68850	1.0:0.0:0.0:0.0	.	498	Q70JA7	CHSS3_HUMAN	A	498	ENSP00000302629:T498A	.	T	+	1	0	CHSY3	129548226	1.000000	0.71417	0.958000	0.39756	0.170000	0.22686	6.087000	0.71362	2.187000	0.69744	0.528000	0.53228	ACC		0.493	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856	
KDM3B	51780	hgsc.bcm.edu	37	5	137727725	137727725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:137727725C>T	ENST00000314358.5	+	8	2604	c.2404C>T	c.(2404-2406)Cga>Tga	p.R802*	KDM3B_ENST00000394866.1_Nonsense_Mutation_p.R458*|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	802					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R802*(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ACTGGATGAACGAAGCTTGGC	0.522																																					p.R802X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2404T	5						.						112.0	123.0	119.0					5																	137727725		2203	4300	6503	137755624	SO:0001587	stop_gained	51780	exon8			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2404C>T	5.37:g.137727725C>T	ENSP00000326563:p.Arg802*	Somatic		Capture	SOLID	Phase_I	137755624	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Nonsense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	36	5.769132	0.96914	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0921	20.106	0.97895	0.0:1.0:0.0:0.0	.	.	.	.	X	802;592;458	.	ENSP00000326563:R802X	R	+	1	2	KDM3B	137755624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.401000	0.52601	2.762000	0.94881	0.561000	0.74099	CGA		0.522	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
ANKHD1	54882	hgsc.bcm.edu	37	5	139866560	139866560	+	Silent	SNP	G	G	A	rs371378838		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:139866560G>A	ENST00000360839.2	+	14	2314	c.2160G>A	c.(2158-2160)acG>acA	p.T720T	ANKHD1_ENST00000297183.6_Silent_p.T720T|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.T720T	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	720						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T720T(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGCCAACGCATACACTTG	0.418																																					p.T720T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2160A	5						.	G	,	0,4406		0,0,2203	86.0	79.0	81.0		2160,2160	4.1	1.0	5		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ANKHD1,ANKHD1-EIF4EBP3	NM_017747.2,NM_020690.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	720/2543,720/2618	139866560	1,13005	2203	4300	6503	139846744	SO:0001819	synonymous_variant	404734	exon14			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2160G>A	5.37:g.139866560G>A		Somatic		Capture	SOLID	Phase_I	139846744	NM_017747	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	CCDS4225.1																																																																																				0.418	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
PCDHA1	56147	hgsc.bcm.edu	37	5	140166148	140166148	+	Missense_Mutation	SNP	T	T	G	rs376884080		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:140166148T>G	ENST00000504120.2	+	1	273	c.273T>G	c.(271-273)gaT>gaG	p.D91E	PCDHA1_ENST00000394633.3_Missense_Mutation_p.D91E|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D91E	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	91	Cadherin 1. {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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D91E(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGATCGATCGCGAGGAGC	0.567																																					p.D91E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T273G	5						.						86.0	91.0	89.0					5																	140166148		2203	4300	6503	140146332	SO:0001583	missense	56147	exon1			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.273T>G	5.37:g.140166148T>G	ENSP00000420840:p.Asp91Glu	Somatic		Capture	SOLID	Phase_I	140146332	NM_031410	O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	t	14.62	2.588636	0.46110	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.51325	0.71;0.71;0.71	4.31	2.42	0.29668	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.45361	U	0.000371	T	0.80243	0.4587	H	0.99626	4.665	0.31390	N	0.677941	D;D;P	0.76494	0.994;0.999;0.944	D;D;P	0.75020	0.925;0.985;0.804	T	0.83060	-0.0148	10	0.87932	D	0	.	10.3613	0.43996	0.0:0.8343:0.0:0.1657	.	91;91;91	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	E	91	ENSP00000420840:D91E;ENSP00000378129:D91E;ENSP00000367373:D91E	ENSP00000367373:D91E	D	+	3	2	PCDHA1	140146332	0.990000	0.36364	0.996000	0.52242	0.070000	0.16714	0.923000	0.28757	0.389000	0.25086	-0.182000	0.12963	GAT		0.567	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHA4	56144	hgsc.bcm.edu	37	5	140187198	140187198	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:140187198C>T	ENST00000530339.1	+	1	426	c.426C>T	c.(424-426)atC>atT	p.I142I	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.I142I|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.I142I|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	142	Cadherin 2. {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)	p.I142I(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGTCCATCGCGGAATCCA	0.567																																					p.I142I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C426T	5						.						76.0	78.0	77.0					5																	140187198		2203	4300	6503	140167382	SO:0001819	synonymous_variant	56144	exon1			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.426C>T	5.37:g.140187198C>T		Somatic		Capture	SOLID	Phase_I	140167382	NM_031500	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																				0.567	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHB2	56133	hgsc.bcm.edu	37	5	140474736	140474736	+	Missense_Mutation	SNP	C	C	T	rs372878606		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:140474736C>T	ENST00000194155.4	+	1	510	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A121V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTTTCAGGCGGAGCTACGG	0.448																																					p.A121V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C362T	5						.						40.0	44.0	43.0					5																	140474736		2202	4300	6502	140454920	SO:0001583	missense	56133	exon1			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.362C>T	5.37:g.140474736C>T	ENSP00000194155:p.Ala121Val	Somatic		Capture	SOLID	Phase_I	140454920	NM_018936	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	4.229	0.041421	0.08196	.	.	ENSG00000112852	ENST00000194155	T	0.35048	1.33	5.12	3.28	0.37604	Cadherin (2);	.	.	.	.	T	0.18593	0.0446	N	0.21448	0.665	0.09310	N	1	B	0.18310	0.027	B	0.10450	0.005	T	0.26121	-1.0112	9	0.11182	T	0.66	.	2.83	0.05497	0.2303:0.5243:0.0:0.2454	.	121	Q9Y5E7	PCDB2_HUMAN	V	121	ENSP00000194155:A121V	ENSP00000194155:A121V	A	+	2	0	PCDHB2	140454920	0.000000	0.05858	0.505000	0.27651	0.064000	0.16182	-0.114000	0.10757	1.250000	0.43966	0.655000	0.94253	GCG		0.448	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
PCDHB3	56132	hgsc.bcm.edu	37	5	140480275	140480275	+	Silent	SNP	C	C	A	rs61738741	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:140480275C>A	ENST00000231130.2	+	1	42	c.42C>A	c.(40-42)gtC>gtA	p.V14V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	14					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V14V(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGGCAAGTCTTGCTTCTCT	0.512																																					p.V14V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C42A	5						.						93.0	104.0	100.0					5																	140480275		2203	4300	6503	140460459	SO:0001819	synonymous_variant	56132	exon1			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.42C>A	5.37:g.140480275C>A		Somatic		Capture	SOLID	Phase_I	140460459	NM_018937	B2R8P2	Silent	SNP	ENST00000231130.2	37	CCDS4245.1																																																																																				0.512	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHB12	56124	hgsc.bcm.edu	37	5	140589902	140589902	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:140589902G>A	ENST00000239450.2	+	1	1612	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A138T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	475	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)	p.A475T(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCATCAGCGCCACAGACAG	0.652																																					p.A475T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1423A	5						.						88.0	87.0	87.0					5																	140589902		2203	4298	6501	140570086	SO:0001583	missense	56124	exon1			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1423G>A	5.37:g.140589902G>A	ENSP00000239450:p.Ala475Thr	Somatic		Capture	SOLID	Phase_I	140570086	NM_018932	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188674	0.78789	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.61392	0.11;0.11	3.61	3.61	0.41365	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81725	0.4883	H	0.94734	3.575	0.36835	D	0.88711	D	0.89917	1.0	D	0.78314	0.991	D	0.89927	0.4063	9	0.87932	D	0	.	15.2747	0.73732	0.0:0.0:1.0:0.0	.	475	Q9Y5F1	PCDBC_HUMAN	T	138;475;95	ENSP00000440199:A138T;ENSP00000239450:A475T	ENSP00000239450:A475T	A	+	1	0	PCDHB12	140570086	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.679000	0.84048	1.741000	0.51731	0.485000	0.47835	GCC		0.652	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
PCDHGC4	56098	hgsc.bcm.edu	37	5	140865569	140865569	+	Missense_Mutation	SNP	G	G	A	rs372373315		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:140865569G>A	ENST00000306593.1	+	1	829	c.829G>A	c.(829-831)Gtc>Atc	p.V277I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	277	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V277I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGGTAACGTCACCTTTTA	0.532																																					p.V277I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G829A	5						.	G	,,,,,,,,,,,,,,,,,,,ILE/VAL,,,,ILE/VAL	0,4406		0,0,2203	73.0	81.0	79.0		,,,,,,,,,,,,,,,,,,,829,,,,829	2.9	1.0	5		79	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,intron,missense	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGC4,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_018928.2,NM_032088.1,NM_032092.1,NM_032403.1,NM_032406.1	,,,,,,,,,,,,,,,,,,,29,,,,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,,,,,277/939,,,,277/872	140865569	1,13005	2203	4300	6503	140845753	SO:0001583	missense	56098	exon1			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.829G>A	5.37:g.140865569G>A	ENSP00000306918:p.Val277Ile	Somatic		Capture	SOLID	Phase_I	140845753	NM_032406	Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	G	0.078	-1.189275	0.01607	0.0	1.16E-4	ENSG00000242419	ENST00000306593	T	0.01705	4.68	4.87	2.9	0.33743	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01189	0.0039	N	0.13327	0.33	0.23192	N	0.998146	B;B	0.15141	0.012;0.005	B;B	0.12156	0.004;0.007	T	0.43750	-0.9372	9	0.02654	T	1	.	10.1741	0.42929	0.2305:0.0:0.7695:0.0	.	277;277	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	I	277	ENSP00000306918:V277I	ENSP00000306918:V277I	V	+	1	0	PCDHGC4	140845753	0.051000	0.20477	1.000000	0.80357	0.990000	0.78478	0.381000	0.20619	1.247000	0.43917	0.462000	0.41574	GTC		0.532	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928	
TRIO	7204	hgsc.bcm.edu	37	5	14287011	14287011	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:14287011A>G	ENST00000344204.4	+	4	403	c.379A>G	c.(379-381)Atc>Gtc	p.I127V	TRIO_ENST00000537187.1_Missense_Mutation_p.I127V|TRIO_ENST00000509967.2_Missense_Mutation_p.I78V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	127	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|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)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I127V(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTCACGGTGATCGTGGACAT	0.562																																					p.I127V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A379G	5						.						110.0	96.0	101.0					5																	14287011		2203	4300	6503	14340011	SO:0001583	missense	7204	exon4			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.379A>G	5.37:g.14287011A>G	ENSP00000339299:p.Ile127Val	Somatic		Capture	SOLID	Phase_I	14340011	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.204890	0.58234	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	D;D;D	0.86694	-2.16;-2.16;-2.16	5.55	5.55	0.83447	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.84754	0.5542	N	0.21142	0.635	0.58432	D	0.999999	P;B	0.35575	0.51;0.025	P;B	0.47573	0.55;0.015	T	0.81627	-0.0847	10	0.19147	T	0.46	.	15.6948	0.77488	1.0:0.0:0.0:0.0	.	78;127	F5H228;O75962	.;TRIO_HUMAN	V	127;127;78	ENSP00000339299:I127V;ENSP00000446348:I127V;ENSP00000445592:I78V	ENSP00000339299:I127V	I	+	1	0	TRIO	14340011	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.576000	0.82467	2.114000	0.64651	0.477000	0.44152	ATC		0.562	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
FAM105A	54491	hgsc.bcm.edu	37	5	14608885	14608885	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:14608885A>G	ENST00000274217.3	+	7	776	c.656A>G	c.(655-657)tAt>tGt	p.Y219C		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	219	OTU.							p.Y219C(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					ATTAGAGATTATCACAAGAGA	0.328																																					p.Y219C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A656G	5						.						69.0	69.0	69.0					5																	14608885		2203	4300	6503	14661885	SO:0001583	missense	54491	exon7				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.656A>G	5.37:g.14608885A>G	ENSP00000274217:p.Tyr219Cys	Somatic		Capture	SOLID	Phase_I	14661885	NM_019018	Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192251	0.38707	.	.	ENSG00000145569	ENST00000274217	T	0.16897	2.31	4.51	1.87	0.25490	.	0.620813	0.14817	N	0.296701	T	0.17195	0.0413	L	0.36672	1.1	0.24187	N	0.99557	D	0.55800	0.973	P	0.50192	0.634	T	0.10660	-1.0620	10	0.39692	T	0.17	-5.6194	6.4816	0.22065	0.5407:0.3101:0.0:0.1493	.	219	Q9NUU6	F105A_HUMAN	C	219	ENSP00000274217:Y219C	ENSP00000274217:Y219C	Y	+	2	0	FAM105A	14661885	0.013000	0.17824	0.929000	0.37066	0.981000	0.71138	0.892000	0.28322	0.077000	0.16863	0.397000	0.26171	TAT		0.328	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018	
NR3C1	2908	hgsc.bcm.edu	37	5	142780378	142780378	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:142780378A>G	ENST00000343796.2	-	2	1020	c.27T>C	c.(25-27)ccT>ccC	p.P9P	NR3C1_ENST00000503201.1_Silent_p.P9P|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Silent_p.P9P|NR3C1_ENST00000424646.2_Silent_p.P9P|NR3C1_ENST00000231509.3_Silent_p.P9P|NR3C1_ENST00000394466.2_Silent_p.P9P|NR3C1_ENST00000504572.1_Silent_p.P9P|NR3C1_ENST00000394464.2_Silent_p.P9P	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	9	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.P9P(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	CTTCTCTACCAGGAGTTAATG	0.413																																					p.P9P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T27C	5						.						50.0	50.0	50.0					5																	142780378		2203	4300	6503	142760571	SO:0001819	synonymous_variant	2908	exon2			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.27T>C	5.37:g.142780378A>G		Somatic		Capture	SOLID	Phase_I	142760571	NM_001018074	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Silent	SNP	ENST00000343796.2	37	CCDS4278.1																																																																																				0.413	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		
SYNPO	11346	hgsc.bcm.edu	37	5	150029597	150029597	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:150029597C>T	ENST00000394243.1	+	3	2866	c.2492C>T	c.(2491-2493)gCt>gTt	p.A831V	SYNPO_ENST00000522122.1_Missense_Mutation_p.A831V|SYNPO_ENST00000307662.4_Missense_Mutation_p.A587V|SYNPO_ENST00000519664.1_Missense_Mutation_p.A587V	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	831	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)	p.A587V(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACCAAGAGCTGCCTCGCCC	0.672																																					p.A831V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2492T	5						.						60.0	69.0	66.0					5																	150029597		2203	4300	6503	150009790	SO:0001583	missense	11346	exon3			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2492C>T	5.37:g.150029597C>T	ENSP00000377789:p.Ala831Val	Somatic		Capture	SOLID	Phase_I	150009790	NM_001166208	A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658332	0.47467	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.25250	1.81;1.81;1.82	5.3	5.3	0.74995	.	0.000000	0.52532	D	0.000070	T	0.42899	0.1223	L	0.57536	1.79	0.41125	D	0.985847	D;D	0.67145	0.992;0.996	P;P	0.59948	0.866;0.866	T	0.21109	-1.0255	10	0.45353	T	0.12	-14.8289	14.5672	0.68185	0.1468:0.8532:0.0:0.0	.	587;831	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	V	831;831;587;587	ENSP00000377789:A831V;ENSP00000428378:A831V;ENSP00000429268:A587V	ENSP00000302139:A587V	A	+	2	0	SYNPO	150009790	0.962000	0.33011	0.868000	0.34077	0.397000	0.30659	1.873000	0.39558	2.480000	0.83734	0.462000	0.41574	GCT		0.672	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286	
GEMIN5	25929	hgsc.bcm.edu	37	5	154271213	154271213	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:154271213G>A	ENST00000285873.7	-	26	3925	c.3850C>T	c.(3850-3852)Cgt>Tgt	p.R1284C		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1284					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.R1284C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCATACAGACGCCCATAAAGA	0.502																																					p.R1284C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3850T	5						.						49.0	55.0	53.0					5																	154271213		2203	4300	6503	154251406	SO:0001583	missense	25929	exon26			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3850C>T	5.37:g.154271213G>A	ENSP00000285873:p.Arg1284Cys	Somatic		Capture	SOLID	Phase_I	154251406	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651268	0.47362	.	.	ENSG00000082516	ENST00000285873	T	0.71579	-0.58	5.8	4.01	0.46588	.	0.802457	0.11864	N	0.522108	T	0.63094	0.2482	L	0.40543	1.245	0.29867	N	0.827196	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.59789	-0.7388	10	0.66056	D	0.02	-0.1687	11.2468	0.49002	0.1432:0.0:0.8568:0.0	.	1283;1284	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	C	1284	ENSP00000285873:R1284C	ENSP00000285873:R1284C	R	-	1	0	GEMIN5	154251406	0.239000	0.23836	0.165000	0.22776	0.938000	0.57974	2.333000	0.43912	0.781000	0.33589	0.655000	0.94253	CGT		0.502	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		
GEMIN5	25929	hgsc.bcm.edu	37	5	154284103	154284103	+	Missense_Mutation	SNP	C	C	T	rs555023335		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:154284103C>T	ENST00000285873.7	-	18	2671	c.2596G>A	c.(2596-2598)Gac>Aac	p.D866N		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	866					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.D866N(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACCAAACAGTCCTGATGAAGC	0.433																																					p.D866N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2596A	5						.						148.0	144.0	146.0					5																	154284103		2203	4300	6503	154264296	SO:0001583	missense	25929	exon18			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2596G>A	5.37:g.154284103C>T	ENSP00000285873:p.Asp866Asn	Somatic		Capture	SOLID	Phase_I	154264296	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181688	0.94885	.	.	ENSG00000082516	ENST00000285873	T	0.78246	-1.16	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.88295	0.6398	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.89430	0.3716	10	0.87932	D	0	-24.5768	18.9802	0.92752	0.0:1.0:0.0:0.0	.	865;866	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	N	866	ENSP00000285873:D866N	ENSP00000285873:D866N	D	-	1	0	GEMIN5	154264296	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.231000	0.78106	2.550000	0.86006	0.467000	0.42956	GAC		0.433	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		
EBF1	1879	hgsc.bcm.edu	37	5	158135175	158135175	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:158135175G>A	ENST00000313708.6	-	15	1838	c.1556C>T	c.(1555-1557)cCa>cTa	p.P519L	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.P451L|EBF1_ENST00000380654.4_Missense_Mutation_p.P488L	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	519	Pro/Ser/Thr-rich.				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.P519L(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)			GGGGCTGGATGGCACTACTGA	0.572			T	HMGA2	lipoma																																p.P519L			Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1556T	5						.						59.0	58.0	59.0					5																	158135175		2200	4295	6495	158067753	SO:0001583	missense	1879	exon15			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.1556C>T	5.37:g.158135175G>A	ENSP00000322898:p.Pro519Leu	Somatic		Capture	SOLID	Phase_I	158067753	NM_024007	Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677419	0.68042	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.46819	0.86;0.86;0.86	5.22	5.22	0.72569	.	0.065831	0.64402	D	0.000008	T	0.53158	0.1779	M	0.73962	2.25	0.80722	D	1	B;B;B;B	0.10296	0.001;0.003;0.001;0.002	B;B;B;B	0.12837	0.002;0.003;0.005;0.008	T	0.54616	-0.8267	10	0.62326	D	0.03	-2.6823	18.8129	0.92065	0.0:0.0:1.0:0.0	.	519;506;519;488	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	L	519;519;488;451	ENSP00000322898:P519L;ENSP00000370029:P488L;ENSP00000428020:P451L	ENSP00000322898:P519L	P	-	2	0	EBF1	158067753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.437000	0.82529	0.655000	0.94253	CCA		0.572	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	
RANBP17	64901	hgsc.bcm.edu	37	5	170343541	170343541	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:170343541C>G	ENST00000523189.1	+	9	1071	c.907C>G	c.(907-909)Ctt>Gtt	p.L303V		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	303					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.L303V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCCAAGTACCTTGGTAATTT	0.318			T	TRD@	ALL																																p.L303V			Dom	yes		5	5q34	64901	RAN binding protein 17		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C907G	5						.						79.0	83.0	82.0					5																	170343541		2203	4298	6501	170276146	SO:0001583	missense	64901	exon9			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.907C>G	5.37:g.170343541C>G	ENSP00000427975:p.Leu303Val	Somatic		Capture	SOLID	Phase_I	170276146	NM_022897	Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	19.80|19.80	3.895173|3.895173	0.72639|0.72639	.|.	.|.	ENSG00000204764|ENSG00000204764	ENST00000523189;ENST00000545246|ENST00000522734	T|.	0.31769|.	1.48|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Armadillo-type fold (1);|.	0.000000|.	0.52532|.	D|.	0.000064|.	D|D	0.85089|0.85089	0.5617|0.5617	M|M	0.90705|0.90705	3.14|3.14	0.46849|0.46849	D|D	0.999223|0.999223	D|.	0.65815|.	0.995|.	D|.	0.64144|.	0.922|.	D|D	0.87568|0.87568	0.2476|0.2476	10|5	0.52906|.	T|.	0.07|.	-12.6835|-12.6835	18.1491|18.1491	0.89668|0.89668	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	303|.	Q9H2T7|.	RBP17_HUMAN|.	V|R	303;199|85	ENSP00000427975:L303V|.	ENSP00000373770:L303V|.	L|P	+|+	1|2	0|0	RANBP17|RANBP17	170276146|170276146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.797000|5.797000	0.69087|0.69087	2.594000|2.594000	0.87642|0.87642	0.561000|0.561000	0.74099|0.74099	CTT|CCT		0.318	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	
CDH10	1008	hgsc.bcm.edu	37	5	24491761	24491761	+	Silent	SNP	A	A	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:24491761A>T	ENST00000264463.4	-	11	2307	c.1800T>A	c.(1798-1800)gcT>gcA	p.A600A	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	600	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A600A(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCAGGGCTTCAGCACTGCAGG	0.517										HNSCC(23;0.051)																											p.A600A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1800A	5						.						140.0	125.0	130.0					5																	24491761		2203	4300	6503	24527518	SO:0001819	synonymous_variant	1008	exon11			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1800T>A	5.37:g.24491761A>T		Somatic		Capture	SOLID	Phase_I	24527518	NM_006727	Q9ULB3	Silent	SNP	ENST00000264463.4	37	CCDS3892.1																																																																																				0.517	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
TARS	6897	hgsc.bcm.edu	37	5	33457497	33457497	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:33457497A>G	ENST00000265112.3	+	9	1284	c.973A>G	c.(973-975)Aaa>Gaa	p.K325E	TARS_ENST00000502553.1_Missense_Mutation_p.K325E|TARS_ENST00000541634.1_Missense_Mutation_p.K221E|TARS_ENST00000414361.2_Missense_Mutation_p.K204E|TARS_ENST00000455217.2_Missense_Mutation_p.K358E	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	325					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.K325E(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AGATCATAGGAAAATTGGCAG	0.383																																					p.K325E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A973G	5						.						108.0	113.0	112.0					5																	33457497		2203	4300	6503	33493254	SO:0001583	missense	6897	exon9			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.973A>G	5.37:g.33457497A>G	ENSP00000265112:p.Lys325Glu	Somatic		Capture	SOLID	Phase_I	33493254	NM_152295	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.665792	0.88251	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T	0.48522	0.81;0.81;0.82	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.79076	0.4385	H	0.96604	3.85	0.80722	D	1	P;D;D;D	0.69078	0.911;0.997;0.995;0.997	P;D;D;D	0.70227	0.459;0.928;0.923;0.968	D	0.86400	0.1741	10	0.72032	D	0.01	-0.6486	16.0011	0.80292	1.0:0.0:0.0:0.0	.	204;358;221;325	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	E	325;325;221;358;204	ENSP00000424387:K325E;ENSP00000265112:K325E;ENSP00000387710:K358E	ENSP00000265112:K325E	K	+	1	0	TARS	33493254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.326000	0.96389	2.183000	0.69458	0.529000	0.55759	AAA		0.383	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295	
ADAMTS12	81792	hgsc.bcm.edu	37	5	33630981	33630981	+	Silent	SNP	G	G	A			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:33630981G>A	ENST00000504830.1	-	13	2261	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	642	Cys-rich.				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.G642G(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						CAGAAAACTGGCCATCTATGG	0.463										HNSCC(64;0.19)																											p.G642G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1926T	5						.						103.0	102.0	102.0					5																	33630981		2203	4300	6503	33666738	SO:0001819	synonymous_variant	81792	exon13			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.1926C>T	5.37:g.33630981G>A		Somatic		Capture	SOLID	Phase_I	33666738	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
CDC20B	166979	hgsc.bcm.edu	37	5	54420700	54420700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:54420700C>T	ENST00000381375.2	-	9	1291	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	CDC20B_ENST00000296733.1_Nonsense_Mutation_p.W382*|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Nonsense_Mutation_p.W382*			Q86Y33	CD20B_HUMAN	cell division cycle 20B	382								p.W382*(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GATCGTGGGGCCATATTGTCA	0.537																																					p.W382X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1146A	5						.						110.0	97.0	101.0					5																	54420700		2203	4300	6503	54456457	SO:0001587	stop_gained	166979	exon9			AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1146G>A	5.37:g.54420700C>T	ENSP00000370781:p.Trp382*	Somatic		Capture	SOLID	Phase_I	54456457	NM_001170402	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Nonsense_Mutation	SNP	ENST00000381375.2	37	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345617	0.82022	.	.	ENSG00000164287	ENST00000296733;ENST00000381375;ENST00000322374	.	.	.	4.66	4.66	0.58398	.	0.000000	0.46442	D	0.000295	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.372	17.3439	0.87305	0.0:1.0:0.0:0.0	.	.	.	.	X	382	.	ENSP00000296733:W382X	W	-	3	0	CDC20B	54456457	1.000000	0.71417	0.619000	0.29118	0.107000	0.19398	6.083000	0.71326	2.402000	0.81655	0.650000	0.86243	TGG		0.537	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623	
ANKRD55	79722	hgsc.bcm.edu	37	5	55466560	55466560	+	Missense_Mutation	SNP	C	C	T	rs370043337|rs78025637	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:55466560C>T	ENST00000341048.4	-	5	534	c.383G>A	c.(382-384)cGc>cAc	p.R128H	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R128H|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R99H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	128								p.R128H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CAGTGGCAGGCGGCCATTTTT	0.488																																					p.R128H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	5						.						105.0	105.0	105.0					5																	55466560		2203	4300	6503	55502317	SO:0001583	missense	79722	exon5			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.383G>A	5.37:g.55466560C>T	ENSP00000342295:p.Arg128His	Somatic		Capture	SOLID	Phase_I	55502317	NM_024669	B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198357	0.94997	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586	T;T;T	0.54279	2.38;0.58;0.58	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	L	0.35414	1.06	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.54827	-0.8235	10	0.16896	T	0.51	.	18.5119	0.90920	0.0:1.0:0.0:0.0	.	128	B3KVT8	.	H	128;128;128;99;128	ENSP00000342295:R128H;ENSP00000424230:R128H;ENSP00000423507:R99H	ENSP00000342295:R128H	R	-	2	0	ANKRD55	55502317	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.334000	0.72944	2.461000	0.83175	0.561000	0.74099	CGC		0.488	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669	
CD180	4064	hgsc.bcm.edu	37	5	66492383	66492383	+	Silent	SNP	A	A	G			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:66492383A>G	ENST00000256447.4	-	1	244	c.87T>C	c.(85-87)atT>atC	p.I29I		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	29					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I29I(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GACTCACCTCAATGCACATCT	0.453																																					p.I29I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T87C	5						.						163.0	162.0	162.0					5																	66492383		2203	4300	6503	66528139	SO:0001819	synonymous_variant	4064	exon1			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.87T>C	5.37:g.66492383A>G		Somatic		Capture	SOLID	Phase_I	66528139	NM_005582	B2R7Z7|Q32MM5	Silent	SNP	ENST00000256447.4	37	CCDS3992.1																																																																																				0.453	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582	
ACOT12	134526	hgsc.bcm.edu	37	5	80638529	80638529	+	Missense_Mutation	SNP	C	C	A	rs560641833		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:80638529C>A	ENST00000307624.3	-	11	1118	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S	ACOT12_ENST00000508234.1_Intron	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	364	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.A364S(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CCCCTTTTGGCTGCCAGTTTT	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		19176	0.001		0.0	False		,,,				2504	0.0				p.A364S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1090T	5						.						153.0	140.0	144.0					5																	80638529		2203	4300	6503	80674285	SO:0001583	missense	134526	exon11			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1090G>T	5.37:g.80638529C>A	ENSP00000303246:p.Ala364Ser	Somatic		Capture	SOLID	Phase_I	80674285	NM_130767	B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	C	7.650	0.682705	0.14907	.	.	ENSG00000172497	ENST00000307624	T	0.27557	1.66	5.24	2.42	0.29668	Lipid-binding START (1);START-like domain (1);	0.212680	0.40144	N	0.001170	T	0.21387	0.0515	L	0.41415	1.275	0.80722	D	1	B	0.23735	0.09	B	0.26517	0.07	T	0.05869	-1.0859	10	0.27785	T	0.31	2.55	5.6294	0.17501	0.1615:0.6701:0.0:0.1684	.	364	Q8WYK0	ACO12_HUMAN	S	364	ENSP00000303246:A364S	ENSP00000303246:A364S	A	-	1	0	ACOT12	80674285	0.418000	0.25440	0.335000	0.25508	0.183000	0.23260	0.743000	0.26231	0.196000	0.20367	0.655000	0.94253	GCC		0.443	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	
CCNH	902	hgsc.bcm.edu	37	5	86708507	86708507	+	Silent	SNP	C	C	A	rs11551415		TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:86708507C>A	ENST00000256897.4	-	1	329	c.105G>T	c.(103-105)gtG>gtT	p.V35V	CCNH_ENST00000504878.1_5'UTR|CCNH_ENST00000513499.1_5'UTR|CCNH_ENST00000508855.1_5'Flank	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	35					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)	p.V35V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		TCCCGTTGGCCACGGCTTTGC	0.587								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																													p.V35V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G105T	5						.						91.0	68.0	76.0					5																	86708507		2203	4300	6503	86744263	SO:0001819	synonymous_variant	902	exon1			U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"""General transcription factor IIH complex subunits"""	1594	protein-coding gene	gene with protein product	"""CDK-activating kinase complex subunit"", ""cyclin-dependent kinase-activating kinase complex subunit"", ""MO15-associated protein"", ""CAK complex subunit"""	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.105G>T	5.37:g.86708507C>A		Somatic		Capture	SOLID	Phase_I	86744263	NM_001239	Q53X72|Q8TBL9	Silent	SNP	ENST00000256897.4	37	CCDS4064.1																																																																																				0.587	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239	
NR2F1	7025	hgsc.bcm.edu	37	5	92923819	92923819	+	Silent	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:92923819C>T	ENST00000327111.3	+	2	2347	c.660C>T	c.(658-660)tgC>tgT	p.C220C	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	220					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.C220C(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)		AGAACATCTGCGAGCTGGCCG	0.652																																					p.C220C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C660T	5						.						78.0	76.0	77.0					5																	92923819		2203	4300	6503	92949575	SO:0001819	synonymous_variant	7025	exon2			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.660C>T	5.37:g.92923819C>T		Somatic		Capture	SOLID	Phase_I	92949575	NM_005654		Silent	SNP	ENST00000327111.3	37	CCDS4068.1																																																																																				0.652	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654	
TTC37	9652	hgsc.bcm.edu	37	5	94826699	94826699	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:94826699C>T	ENST00000358746.2	-	37	4142	c.3844G>A	c.(3844-3846)Gct>Act	p.A1282T		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1282						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.A1282T(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTATCATCAGCGTGACAGGCT	0.398																																					p.A1282T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3844A	5						.						91.0	81.0	84.0					5																	94826699		2203	4300	6503	94852455	SO:0001583	missense	9652	exon37			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3844G>A	5.37:g.94826699C>T	ENSP00000351596:p.Ala1282Thr	Somatic		Capture	SOLID	Phase_I	94852455	NM_014639	O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932851	0.52866	.	.	ENSG00000198677	ENST00000358746	T	0.79247	-1.25	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);	0.047724	0.85682	D	0.000000	T	0.65207	0.2669	L	0.39898	1.24	0.45390	D	0.998372	P	0.43662	0.814	B	0.31495	0.131	T	0.64647	-0.6358	10	0.14252	T	0.57	.	16.376	0.83392	0.1323:0.8677:0.0:0.0	.	1282	Q6PGP7	TTC37_HUMAN	T	1282	ENSP00000351596:A1282T	ENSP00000351596:A1282T	A	-	1	0	TTC37	94852455	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	2.719000	0.47244	2.941000	0.99782	0.655000	0.94253	GCT		0.398	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	
SPATA9	83890	hgsc.bcm.edu	37	5	94994386	94994386	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:94994386T>C	ENST00000274432.8	-	5	847	c.706A>G	c.(706-708)Aac>Gac	p.N236D	SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	236					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.N236D(1)		large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		ACTTGGATGTTATTACTCTGC	0.368																																					p.N236D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A706G	5						.						86.0	88.0	87.0					5																	94994386		2203	4298	6501	95020142	SO:0001583	missense	83890	exon5			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.706A>G	5.37:g.94994386T>C	ENSP00000274432:p.Asn236Asp	Somatic		Capture	SOLID	Phase_I	95020142	NM_031952	A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678347	0.47886	.	.	ENSG00000145757	ENST00000274432	T	0.29397	1.57	5.07	3.91	0.45181	.	0.198687	0.35903	N	0.002916	T	0.15046	0.0363	N	0.08118	0	0.80722	D	1	B	0.12630	0.006	B	0.13407	0.009	T	0.04946	-1.0916	10	0.45353	T	0.12	-12.4196	7.6396	0.28286	0.0:0.0949:0.0:0.9051	.	236	Q9BWV2	SPAT9_HUMAN	D	236	ENSP00000274432:N236D	ENSP00000274432:N236D	N	-	1	0	SPATA9	95020142	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	3.711000	0.54868	1.070000	0.40811	0.528000	0.53228	AAC		0.368	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952	
SQSTM1	8878	hgsc.bcm.edu	37	5	179250952	179250952	+	Silent	SNP	T	T	C			TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr5:179250952T>C	ENST00000389805.4	+	3	574	c.396T>C	c.(394-396)aaT>aaC	p.N132N	SQSTM1_ENST00000360718.5_Silent_p.N48N|SQSTM1_ENST00000510187.1_Silent_p.N132N|SQSTM1_ENST00000376929.3_Silent_p.N48N|SQSTM1_ENST00000402874.3_Silent_p.N48N	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	132	Interaction with GABRR3. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.N132N(1)	SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGCTGCAATGGGCCTGTGG	0.622																																					p.N48N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T144C	5						.						82.0	79.0	80.0					5																	179250952		2203	4300	6503	179183558	SO:0001819	synonymous_variant	8878	exon4			U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.396T>C	5.37:g.179250952T>C		Somatic		Capture	SOLID	Phase_I	179183558	NM_001142299	A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Silent	SNP	ENST00000389805.4	37	CCDS34317.1																																																																																				0.622	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1		
CFAP46	54777	hgsc.bcm.edu	37	10	134648268	134648268	+	Silent	SNP	G	G	A	rs150362711	byFrequency	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01Q-01A-01W-A005-10	TCGA-AA-A01Q-10A-01W-A005-10	g.chr10:134648268G>A	ENST00000368586.5	-	48	6856	c.6756C>T	c.(6754-6756)ggC>ggT	p.G2252G	TTC40_ENST00000263170.5_Silent_p.G413G	NM_001200049.2	NP_001186978.2												p.G413G(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCACCTGCAGGCCTTCTGGTT	0.652																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	10						.						32.0	34.0	33.0					10																	134648268		2202	4300	6502	134498258	SO:0001819	synonymous_variant	54777	.																														ENST00000368586.5:c.6756C>T	10.37:g.134648268G>A		Somatic		Capture	SOLID	Phase_I	134498258	.		Silent	SNP	ENST00000368586.5	37	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	G	3.696	-0.062485	0.07273	.	.	ENSG00000171811	ENST00000448925	.	.	.	3.19	-3.0	0.05480	.	.	.	.	.	T	0.20618	0.0496	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29336	-1.0015	4	.	.	.	.	3.5672	0.07904	0.4869:0.0:0.33:0.1831	.	.	.	.	V	21	.	.	A	-	2	0	C10orf93	134498258	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.750000	0.01822	-0.397000	0.07691	0.462000	0.41574	GCC		0.652	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3		
